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Sample records for sapho syndrome diagnosis

  1. SAPHO syndrome in the differential diagnosis of metastasis.

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    Berenguer Francés, Miguel Ángel; Lafaurie Acevedo, Alejandro; Tormo Ferrero, Vicente; Cardenal Macia, Rafael; Andreu Martínez, Francisco José

    2016-01-01

    SAPHO syndrome was proposed in the late 80s in order to group different osteoarticular manifestations with specific radiological findings such as the hyperostosis of the front part of the chest wall. Prevalence, etiology and pathogenesis of the disease are unknown, while diagnosis is made both clinically and by the specific gammagraphic image of «bull horn» in the sternoclavicular joint. The following case of a 64-year-old woman diagnosed with infiltrating ductal carcinoma of the right breast pT1N0Mx is reported. When studying the extent of the disease, a gammagraphic image of diffuse blast injury in the sterna manubrium was evidenced, which allowed the suspicion of Paget's disease or metastatic injury. Study was completed with a chest CT in which manubrium sclerosis was evidenced, suggesting metástasis. Res ults of the studies pointed out SAPHO syndrome as the most likely diagnostic option. The low tumor stage of the patient prompted the idea of possible alternative diagnoses. A deeper knowledge of this clinical condition may be crucial to avoid mistakes when classifying a subject in more advanced tumor stages, and consequently, to prevent the use of more aggressive chemotherapy and radiotherapy treatments. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  2. SAPHO syndrome: the clinical case

    Directory of Open Access Journals (Sweden)

    T. P. Makarova

    2017-01-01

    Full Text Available Syndrome Sapho is a combination of hyperostosis of the sternoclavicular joint with pustulosis of the palms and/or plants, pustular/vulgar psoriasis, or deep acne, which also celebrates spinal cord injury, osteitis and arthritis, including sacroiliitis. As trigger factors, the role of infections, such as Staphylococcus epidermidis, streptococci and viruses, is considered. They are associated with autoimmune post- or parainfectious pathogenesis of the SAPHO syndrome. As with the other seronegative spondyloarthritis important for the pathogenesis of SAPHO syndrome is a factor in hypothermia. Presents a clinical case of the syndrome of Sappho from the group of seronegative spondyloarthritis. Features of the course, the complexity of diagnosis in a particular patient and the possibility of targeted therapy with genetically engineered drugs, are shown.

  3. SAPHO syndrome with affection of the mandible: diagnosis, treatment, and review of literature.

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    Zemann, Wolfgang; Pau, Mauro; Feichtinger, Matthias; Ferra-Matschy, Barbara; Kaercher, Hans

    2011-02-01

    The synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare syndrome of unknown etiology. Involvement of the mandible is found in almost 10% of cases. In the literature, conservative treatment is recommended most often, because decortication and partial resection are found to be ineffective and of temporary profit. We report a case of SAPHO syndrome in a 44-year-old women with unilateral hyperostosis of the mandible and massive painful swelling of the surrounding soft tissues. Owing to facial disfiguration and pain, resection of the affected bone followed by immediate reconstruction with a microvascular iliac crest flap were performed. The aim of this paper was to present the necessity of surgical intervention in SAPHO syndrome of the mandible in cases of esthetic and functional limitation. Copyright © 2011 Mosby, Inc. All rights reserved.

  4. SAPHO: syndrome or concept? Imaging findings

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    Earwaker, J.W.S. [Department of Medical Imaging, Holy Spirit Hospital, Brisbane (Australia); Cotten, A. [Service de Radiologie OsteoArticulaire, Hopital Roger Salengro, Lille (France)

    2003-06-01

    The SAPHO syndrome was a term coined to include a variety of musculoskeletal disorders associated with skin conditions, mainly palmoplantar pustulosis and acne conglobata. It is more correctly a spectrum which includes the following: skin lesions, osteoarticular manifestations of synovitis hyperostosis and osteitis affecting particular target sites, and.a clinical course marked by relapses and remissions. The major sites of involvement are the anterior chest wall, the spine, long bones, flat bones, and large and small joints. The distribution and severity of involvement varies from the adult to the pediatric form of chronic recurrent multifocal osteomyelitis (CRMO). The diagnosis of SAPHO syndrome is not difficult when the typical osteoarticular lesions are located in characteristic target sites. The diagnosis is more difficult if atypical sites are involved and there is no skin disease. (orig.)

  5. The SAPHO syndrome revisited with an emphasis on spinal manifestations

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    Leone, Antonio; Casale, Roberto; Magarelli, Nicola; Semprini, Alessia; Colosimo, Cesare [Catholic University, School of Medicine, Department of Radiological Sciences, Rome (Italy); Cassar-Pullicino, Victor N. [The Robert Jones and Agnes Hunt Orthopaedic and District Hospital, Department of Diagnostic Imaging, Shropshire, England (United Kingdom)

    2015-01-15

    The synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome includes a group of chronic, relapsing, inflammatory musculoskeletal disorders with similar manifestations, in particular synovitis, hyperostosis, and osteitis, which may or may not be associated with neutrophilic skin eruptions such as palmoplantar pustulosis and acne conglobata. The syndrome occurs at any age, can involve any skeletal site, and its imaging appearances are variable, depending on the stage/age of the lesion and imaging method. The diagnosis is difficult if there is no skin disease. Awareness of the imaging appearances, especially in the spine, may help the radiologist in avoiding misdiagnosis (e.g., infection, tumor) and unnecessary invasive procedures, while facilitating early diagnosis and selection of an effective treatment. In this article, we provide an overview of the radiological appearances of SAPHO syndrome, focusing on the magnetic resonance imaging findings of vertebral involvement, and present relevant clinical and pathological features that assist early diagnosis. (orig.)

  6. Thrombotic manifestations in SAPHO syndrome. Review of the literature.

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    Carranco-Medina, Tatiana Elizabeth; Hidalgo-Calleja, Cristina; Calero-Paniagua, Ismael; Sánchez-González, María Dolores; Quesada-Moreno, Alba; Usategui-Martín, Ricardo; Pérez-Garrido, Laura; Gómez-Castro, Susana; Montilla-Morales, Carlos Alberto; Martínez-González, Olga; Del Pino-Montes, Javier

    2015-01-01

    SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a cluster of osteo-cutaneous manifestations that can lead to serious complications such as thrombosis of the subclavian vein or superior vena cava, mainly in patients with significant inflammatory involvement of the anterior-chest-wall. The objective of this study was to review the cases published in the medical literature related with the presence of thrombotic complications in patients diagnosed with SAPHO syndrome and to try to determine their possible pathogenic mechanism and risk factors. We analyzed 11 published reports of isolated clinical cases or case series, a total of 144 patients, which described a total of 15 cases of venous thrombosis. The clinical characteristics of these patients, evaluated to determine whether they meet the ASAS criteria for axial and peripheral spondyloarthritis, is analyzed the need for early diagnosis and treatment is highlighted. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  7. Vertebral involvement in SAPHO syndrome: MRI findings

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    Nachtigal, A.; Cardinal, E.; Bureau, N.J. [Dept. of Radiology, Univ. de Montreal, QC (Canada); Sainte-Marie, L.G. [Dept. of Internal Medicine, Univ. de Montreal, QC (Canada); Milette, F. [Department of Pathology, Univ. de Montreal, QC (Canada)

    1999-03-01

    We report on the MRI findings in the vertebrae and surrounding soft tissues in two patients with the SAPHO syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis). The MRI findings include abnormal bone marrow signal, either focal or diffuse, of the vertebral bodies and posterior elements; hyperintense paravertebral soft tissue swelling and abnormal signal of the intervertebral discs. These changes are consistent with discitis and osteitis. (orig.) With 6 figs., 17 refs.

  8. [Vertebral destruction with sever pain in the SAPHO syndrome].

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    Hagemann, D; Pfaffenbach, B; Schmid, G; Adamek, R J

    1999-02-05

    A 57-year-old man had for the past 18 months complained of recurrent, recently worsening, belt-like backache radiating ventrally. On admission a skin rash consisting of blister and pustules was noted on the palms of both hands. He had pain on pressure over the right upper abdomen, an enlarged prostate and definite pain on percussing the vertebral column with restricted movement of the thoracic vertebral column, but no other physical signs. Radiology revealed clearly increased sclerosis of several thoracic vertebrae with osteolytic destruction and a paravertebral soft tissue tumor. Search for a primary tumor was unsuccessful. Bone scintigraphy demonstrated nuclide enrichment of the thoracic vertebrae and of the sternoclavicular joints without increase in the LeukoScan. These findings indicated the diagnosis of SAPHO syndrome (synovitis-acne-pustulosis-hyperostosis-osteomyelitis). Rapid subjective and objective improvement followed the administration of clindamycin and ibuprofen. In case of bone pain of uncertain aetiology, especially when associated with skin rash, the rare SAPHO syndrome should be considered in the differential diagnosis, avoiding lengthy diagnostic steps and allowing early treatment.

  9. A case report of severely damaged hip joint caused by SAPHO syndrome treated with 2-stage total hip arthroplasty.

    Science.gov (United States)

    Yeo, Ingwon; Cha, Hoon-Suk; Yoon, Young Cheol; Park, Youn-Soo; Lim, Seung-Jae

    2016-07-01

    Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an increasingly recognized entity. The hip joint is known as a less frequently affected site in SAPHO syndrome, and there has been limited reports about hip joint diseases caused by SAPHO syndrome, and as such adequate treatment for this disease spectrum is still not fully elucidated. We describe the case of a 52-year-old man admitted for SAPHO syndrome who went on to be diagnosed with advanced secondary hip arthritis associated with disabling right hip pain. The diagnosis of SAPHO syndrome was delayed; the patient was given a clinical diagnosis of osteomyelitis and treated with prolonged courses of antibiotics and open surgical debridement at previous tertiary health facility. The patient underwent 2-stage joint replacement surgery in our hospital. At 1 year after the surgery, he is well, with minimal right hip pain and the prosthesis is functioning well. This case shows the safety and effectiveness of the 2-stage joint replacement in treating destructive hip disease caused by SAPHO syndrome mimicking infectious arthritis.

  10. SAPHO syndrome presenting as an osteolytic lesion of the neck.

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    Mateo, Lourdes; Sanint, Juana; Rodríguez Muguruza, Samantha; Martínez Morillo, Melania; Pérez Andrés, Ricard; Domenech Puigcerver, Sira

    We report a case of acute-onset multifocal vertebral osteitis with a marked impact on the patient's general health. The radiological, scintigraphic and magnetic resonance findings made it necessary to carry out a differential diagnosis to distinguish it from an infiltrative neoplastic process and determine whether it had an infectious or an inflammatory etiology. The presence of noninfectious multifocal osteitis and sternoclavicular arthritis and the subsequent development of plantar pustulosis pointed to SAPHO syndrome. Treatment with infliximab led to improvement in the clinical symptoms, laboratory values and radiological abnormalities. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  11. Synovis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: A case of spine, pelvis, and anterior chest wall involvement, with overlooked plantar pustulosis

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    Kim, Hyun Soo; Jeong, Soh Yong; Lee, Sujin; Baek, In Woon; Park, Jeongmi [Yeouido St. Mary' s Hospital, College of Medicine, The Catholic University of Korea, Seoul (Korea, Republic of)

    2017-05-15

    Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an inflammatory clinical condition with aseptic bone lesions and characteristic skin manifestations. A 63-year-old woman presented with vague musculoskeletal symptoms including chronic buttock pain. The clinical work-up revealed multiple spine and osteoarticular involvement. Multilevel bone marrow edema and cortical erosions involving the spine, asymmetric sacroiliitis, and osteosclerosis of the sternoclavicular joint were consistent with a diagnosis of SAPHO syndrome. Considering SAPHO syndrome in the differential diagnosis, subsequent skin inspection revealed plantar pustulosis. Despite the unique feature of accompanying skin and skeletal lesions, skin lesions could be overlooked if not suspected.

  12. The usefulness of bone scintigraphy in SAPHO syndrome

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    Lim, Seok Tae; Sohn, Myung Hee [School of Medicine, Chonbuk National Univ., Chonju (Korea, Republic of)

    2002-08-01

    SAPHO syndrome is well known to various disease entities including synovitis, acne, pustulosis, hyperostosis and polyarthritis. The purpose of this study is to evaluate sicntigraphic findings and to compare with radiologic findings in SAPHO syndrome. Five patients (M:F=5:0, Age 22.8{+-}4.78 yrs) with SAPHO syndrome were enrolled in our study. All patients underwent whole-body bone scintigraphy with intravenous administration of 740 MBq of Tc-99m MDP. Among them, two patients were additionally perfomed SPECT of the spine to evaluate the location and extent of spinal lesion. All patients were demonstrated abnormal increased uptakes in sternoclavicular joint (SC), sacroiliac joint (SI), and small joints of both hands. Among them, three patients were bilateral involvement (3/5) and two were unilateral (2/5) in SC. Involvement of SI showed bilateral in four patients (4/5) and unilateral in one (1/5). SPECT images demonstrate that the lesion sites of the lumbar spine are more likely facet joints than vertebral bodies or pedicles. As SAPHO syndrome is the disease entity involved polyarticular joints with various dermatologic manifestations, the bone scintigraphy may be a very useful method to evaluate the location and extent of joint involvement, and to avoid inadequate surgical management or ineffective antibiotic treatment.

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

    Directory of Open Access Journals (Sweden)

    Jozephina Gonçalves Guerra

    2005-08-01

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

  14. [A Case of Moyamoya Disease Associated with SAPHO Syndrome].

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    Horie, Nobutaka; Baba, Mayuko; Kawada, Ken; Matsunaga, Yuuki; Sadakata, Eisaku; Morofuji, Yoichi; Izumo, Tsuyoshi; Morikawa, Minoru; Anda, Takeo; Matsuo, Takayuki

    2017-06-01

    Moyamoya disease is a unique occlusive disease of the internal carotid artery(ICA)with moyamoya vessels that can lead to transient ischemic attacks and hemorrhagic stroke. When other inherited or acquired disorders and conditions occur in conjunction with moyamoya disease, the syndrome is known as quasi-moyamoya disease. We report the case of a 34-year-old woman with a past history of SAPHO(Synovitis-Acne-Pustulosis-Hyperostosis-Osteomyelitis)syndrome, who presented with arm weakness and headache. Magnetic resonance angiography revealed severe terminal stenosis of the left ICA with moyamoya vessels, and she was diagnosed as moyamoya disease associated with SAPHO syndrome. She underwent superficial temporal artery-middle cerebral artery anastomosis and her arm weakness improved postoperatively. Postoperative course was uneventful, although she showed transient right paresthesia, which improved with conservative therapy. Autoimmune response could contribute to the development of this moyamoya disease, and we discuss its mechanism with a literature review.

  15. Radiologists need to be aware of secondary central venous stenosis in patients with SAPHO syndrome

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    Suzuki, Mizuho; Kanazawa, Hidenori; Shinozaki, Takeshi; Sugimoto, Hideharu [Jichi Medical University, Department of Radiology, Shimotsuke, Tochigi (Japan)

    2017-11-15

    We aimed to define central venous stenosis (CVS) caused by sternocostoclavicular hyperostosis as a feature of synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome on routine contrast-enhanced computed tomography (CT) images. The relationship between SAPHO syndrome and CVS without venous thrombosis caused by anterior chest wall compression has not been investigated. Therefore, the present study evaluated CVS in patients with SAPHO syndrome at our hospital. We retrospectively reviewed contrast-enhanced CT images of ten patients with suspected or diagnosed SAPHO syndrome between January 2007 and November 2015. The patients were assessed by contrast-enhanced CT using 16-, 64- or 128-detector row scanners. Two radiologists independently assessed the presence of CVS or obstruction and SAPHO syndrome in a retrospective review of CT images. Six of the ten patients had findings of CVS with SAPHO syndrome. The mean diameter and patency rate at the site of CVS were 1.88 mm and 27.2%, respectively. Stenosis was more significant in terms of the mean diameter of CVS sites than of stenotic sites that crossed the anteroposterior vein (p < 0.05). Radiologists who routinely assess contrast-enhanced CT images should be aware that sternocostoclavicular hyperostosis with SAPHO syndrome could cause secondary CVS. (orig.)

  16. Bilateral Subclavian Vein Occlusion in a SAPHO Syndrome Patient Who Needed an Implantable Cardioverter Defibrillator.

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    Ishizuka, Masato; Yamamoto, Yuko; Yamada, Shintaro; Maemura, Sonoko; Nakata, Ryo; Motozawa, Yoshihiro; Yamamoto, Keisuke; Takizawa, Masataka; Uozumi, Hiroki; Ikenouchi, Hiroshi

    2016-05-25

    A 79-year-old Asian man was hospitalized because of progressive exertional dyspnea with decreasing left ventricular ejection fraction and frequent non-sustained ventricular tachycardia. Pre-procedure venography for implantable cardioverter defibrillator (ICD) implantation showed occlusion of the bilateral subclavian veins. In consideration of subcutaneous humps in the sterno-clavicular area and palmoplantar pustulosis, we diagnosed him as having synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome and speculated that it induced peri-osteal chronic inflammation in the sterno-clavicular area, resulting in occlusion of the adjacent bilateral subclavian veins. An automatic external defibrillator (AED) was installed in the patient's house and total subcutaneous ICD was considered. Venous thrombosis in SAPHO syndrome is not frequent but has been reported. To the best of our knowledge, this is the first case of bilateral subclavian vein occlusion in a SAPHO syndrome patient who needs ICD implantation.

  17. The SAPHO syndrome: defining the radiologic spectrum of diseases comprising the syndrome

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    Sugimoto, H.; Tamura, K. [Department of Radiology, Jichi Medical School, 3311 Minamikawachi-machi, Kawachi-gun, Tochigi-ken, 329-04 (Japan); Fujii, T. [Department of Pathology, Jichi Medical School, 3311 Minamikawachi-machi, Kawachi-gun, Tochigi-ken, 329-04 (Japan)

    1998-06-02

    The objective of our study was to clarify the radiologic spectrum of disease entities belonging to the SAPHO syndrome (SAPHO being an acronym for synovitis, acne, pustulosis, hyperostosis, and osteitis). A retrospective analysis of radiologic data was undertaken to determine the relationship of the osteoarthritic changes seen in palmoplantar pustulosis (PPP, n = 179), acne (n = 3), psoriasis vulgaris (PsV, n = 355), generalized pustular psoriasis (GPP, n = 25), and chronic recurrent multifocal osteomyelitis (CRMO, n = 4). Osseous changes of PPP, acne, and CRMO overlap each other; 7 PPP, 2 acne, and 3 CRMO patients manifested stenocostoclavicular hyperostosis as well as hyperostosis of the spine, pelvis, and/or femur. These findings were not seen in either PsV or GPP patients. Thirteen PsV and 4 GPP patients had peripheral arthritis and/or symmetrical sacroiliitis, which were not observed in the PPP, acne, and CRMO patients. The PPP, acne, and CRMO patients may be grouped as belonging to the single disease entity, namely SAPHO syndrome. Our findings do not support the inclusion of PsV and GPP in the spectrum of this syndrome. (orig.) With 7 figs., 2 tabs., 30 refs.

  18. A case of bronchiolitis obliterans organising pneumonia associated with SAPHO (synovitis-acne-pustulosis-hyperostosis-osteitis) syndrome.

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    Hameed, Fawad; Steer, Henry

    2017-08-01

    A 57-year-old woman with SAPHO (synovitis-acne-pustulosis-hyperostosis-osteitis) syndrome presented with recurrent episodes of pneumonia. She was treated with multiple courses of antibiotics with no success. The transbronchial biopsy undertaken via bronchoscopy revealed organising pneumonia (OP). She was treated with steroids and responded well with full clinical recovery and normalisation of her chest X-ray.To our knowledge, this is the first reported case of OP in association with SAPHO syndrome. This case report highlights the importance of considering OP in patients with SAPHO syndrome who present with chest infection. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  19. Exploration of the S.A.P.H.O. syndrome: PET/CT with {sup 18}FNa vs planar osseous scintigraphy; Exploration du syndrome SAPHO: TEP/TDM au {sup 18}FNa vs scintigraphie osseuse planaire

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    Ben Ali, K.; Poisson, T.; Hayem, G.; Lebtahi, R.; Sarda-Mantel, L.; Burg, S.; Meyer, O.; Le Guludec, D. [Groupe hospitalier Bichat-Claude-Bernard, 75 - Paris (France)

    2010-07-01

    Our purpose was to study the interest of the PET/CT with {sup 18}FNa (F Na-PET/CT) in the assessment of the lesions synovitis acne pustulosis hyperostosis osteitis (S.A.P.H.O.) syndrome compared to bone planar scintigraphy with hydroxy-methylene diphosphonate (H.M.D.P.) labelled with {sup 99m}Tc. The preliminary results suggest an increase of sensitivity of the F Na-PET/CT compared to bone scintigraphy in the S.A.P.H.O. syndrome exploration ( particularly for the rachis injuries, tips and enthesopathies), without loss of specificity. (N.C.)

  20. Spondarthritis hyperostotica pustulo-psoriatica - Review and a clinical-radiological study with special emphasis on SAPHO syndrome; Die Spondarthritis hyperostotica pustulo-psoriatica: Nosologische Studie mit klinischer und radiologischer Darstellung innerhalb des SAPHO-Syndroms

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    Schilling, F. [Radiologische Universitaetsklinik Mainz (Germany)]|[Zentrum fuer Rheuma-Pathologie, Mainz (Germany); Kessler, S. [Radiologische Universitaetsklinik Mainz (Germany)

    1998-12-01

    Spondarthritis hyperostotica pustulo-psoriatica (Spond.hyp.pp-Schilling), corresponding nosologically to pustulotic arthroosteitis, is a dermato-skeletal `double system` disease of adults. It consists of the triad (a) palmo-plantar pustulosis (Ppp) or, alternatively, Koenigsbeck-Barber-type psoriasis, (b) sternocostoclavicular hyperostosis (SCCH), and (c) truncal-skeletal changes with syndesmophite-like, hyperostotic and/or parasyndesmophite-like ossifications of layers of the anterior vertebral ligament taken together in the sense of a desmophytal hyperostosis. There is also a potential for sclerosing inflammatory arthritis of the sacro-iliac joints and `dry` inflammatory arthritis of the sacro-iliac joints and `dry` inflammatory arthritis of peripheral joints. Thus, the pustulo-psoriatic terrain seems to have a decisive influence on osseous pathology. A total of 38 cases from a study during the years 1982 to 1992 is analysed with regard to morphological characteristics. Rare cases with diaphyseal and pelvic hyperostotic lesions subsequent to bland sclerosing osteomyelitis constitute an overlapping region to chronic recurrent multifocal osteomyelitis (CRMO) and illustrate the relationship between hyperostotic spondarthritis and CRMO. The syndromes of `acquired hyperostosis` and `SAPHO`, the former more radiologically oriented and the latter more clinically oriented, together with mainly CRMO and hyperostotic spondarthritis and its forms, constitute the `Spond.hyp.pp.`. Although hyperostosis is a guidepost for the radiologist and SAPHO symptoms are one for the clinician, the syndrome does not represent a diagnosis by itself and requires further differentiation. In this report the entity `Spond.hyp.pp.` is considered and requires contributions from rheumatologically and osteologically oriented radiologist. (orig.) [Deutsch] Die vorliegende Uebersicht beschreibt unter vorwiegend radiologischen Gesichtspunkten das Krankheitsbild der Spondarthritis hyperostatica

  1. A case of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome complicated by IgA nephropathy with nephrotic syndrome.

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    Morimoto, Katsuhiko; Nakatani, Kimihiko; Asai, Osamu; Mondori, Kuniko; Tomiwa, Kiyonori; Mondori, Takamitsu; Nakagawa, Yoshiyuki; Iwano, Masayuki; Shiiki, Hideo

    2016-05-01

    A 62-year-old man visited our hospital with a mild sore throat, high-grade fever, and clavicular pain. Seven years earlier, he had been diagnosed with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. His clavicles were tender and remarkably swollen. Also noted was marked pitting edema in the lower extremities and pustulosis on the palms and soles of the feet. Laboratory studies on admission showed an elevated white cell count (23,400/μl) and serum C-reactive protein level (24.4 mg/dl). Urinalysis revealed proteinuria (2+) and occult blood (3+) with numerous dysmorphic red blood cells and hyalin casts. The patient was diagnosed with recurrence of his SAPHO syndrome and started on oral glucocorticoid therapy. By day 9 after admission, he had gained 16 kg in body weight, and his proteinuria (6.4 g/day) and serum creatinine level (2.3 mg/dl) were elevated. Renal biopsy revealed mesangial proliferative glomerulonephritis with deposition of IgA and C3 in the mesangial area and along the capillary walls. The patient was diagnosed with IgA nephropathy accompanied by nephrotic syndrome. With oral prednisolone therapy, his fever, clavicular pain, and proteinuria were gradually relieved. The clinical course in this case suggests the onset of nephrotic syndrome with IgA nephropathy was associated with the recurrence of the patient's SAPHO. To our knowledge, this is the first reported case of SAPHO-associated IgA nephropathy.

  2. SAPHO syndrome with acne fulminans and severe polyosteitis involving axial skeleton

    Directory of Open Access Journals (Sweden)

    B Lakshmi Divya

    2016-01-01

    Full Text Available SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis, a rare inflammatory disorder, is an association of distinct skin disorders with pustules with osteoarticular inflammation. Its etiology remains unclear, and various treatment regimens frequently fail to control the disease. An 18-year-old male patient presented to the outpatient department with severe nodulocystic acne on the face with pain at both the wrists and lower back associated with high-grade fever and chills. On physical examination, he had severe tenderness at both wrist joints and lower back, along with swelling of right wrist. Magnetic resonance imaging revealed osteitis of the distal end of the right radius. Technetium-99m-MDP Whole Body Bone Scan revealed increased metaphyseal uptake in distal radius on both sides and prominent uptake at the sacroiliac joints, vertebral end plate, left 7th costo-vertebral joint and bilateral sternoclavicular joints and manubrium sternum (resulting in “bull's head” sign, which is characteristic of SAPHO syndrome. He responded very well to a combination therapy of nonsteroid anti-inflammatory drugs, antibiotics, colchicine, and isotretinoin over a 12-week period.

  3. SAPHO: What radiologists should know

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    Depasquale, R.; Kumar, N.; Lalam, R.K.; Tins, B.J.; Tyrrell, P.N.M.; Singh, J. [Radiology Department, Robert Jones and Agnes Hunt Orthopaedic and District Hospitals NHS Trust, Gobowen, Oswestry, Shropshire (United Kingdom); Cassar-Pullicino, V.N., E-mail: victor.pullicino@rjah.nhs.uk [Radiology Department, Robert Jones and Agnes Hunt Orthopaedic and District Hospitals NHS Trust, Gobowen, Oswestry, Shropshire (United Kingdom)

    2012-03-15

    SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) is an umbrella acronym for inflammatory clinical conditions whose common denominator is aseptic osteoarticular involvement with characteristic skin lesions. It involves all ages, can involve any skeletal site, and has variable imaging appearances depending on the stage/age of the lesion and imaging method. It mimics important differentials including infection and neoplasia. Awareness of the imaging features, especially in the spine, facilitates early diagnosis, prevents repeated biopsies, and avoids unnecessary surgery, while initiating appropriate treatment.

  4. SAPHO, autophagy, IL-1, FoxO1, and Propionibacterium (Cutibacterium) acnes.

    Science.gov (United States)

    Berthelot, Jean-Marie; Corvec, Stéphane; Hayem, Gilles

    2017-05-09

    Overt infection by Propionibacterium acnes is lacking in many SAPHO syndromes, and antibiotics have only a transient and incomplete effect, either in SAPHO syndrome or acne. As several auto-inflammatory bone disorders sharing overproduction of IL-1β can mimic SAPHO, this syndrome could partly depend on genetically encoded overproduction of IL-1β. However, cyclic intracellular infections, mostly by P. acnes, can contribute to the enhanced IL-1β release by some skin cells, and probably by bone cells. P. acnes is indeed a powerful trigger of NLRP3-inflammasome activation and IL-1β, leading to osteitis and enhanced mesenchymal cells differentiation in osteoblasts. Recent advances in the understanding of acne suggest that first steps of this disorder are not driven by P. acnes, but by a relative deficiency of FoxO1 within the nucleus of sebaceous cells. A similar defect of FoXO1 in bone cells should also be sought in SAPHO, since repression of FoxO1 gene is found in lesional psoriasis skin, and is associated with an increased number of osteoblasts and high bone mass in mice. FoxO1 selectively promotes IL-1β production, so that its downregulation could help some P. acnes t escape innate immunity and persist in a latent state in bone cells, including mesenchymal stem cells. However, P. acnes itself possibly contributes to FoxO1 downregulation, like H. pylori infection which induces nuclear inactivation of FoxO1 in human gastric cells to slow down autophagic clearance. As bisphosphonates, which often improve SAPHO syndromes, enhance autophagy, it may be worth testing whether their combination with antibiotics is synergistic in SAPHO syndromes. Copyright © 2017 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  5. SAPHO-syndroom: gemeenschappelijke noemer voor enkele bot- en huidziekten

    NARCIS (Netherlands)

    Jahangier, Z. N.; Jacobs, J. W.; Bijlsma, J. W.

    1997-01-01

    The acronym 'SAPHO' stands for synovitis, acne, pustulosis, hyperostosis and osteitis. Three subtypes of SAPHO can be distinguished which have the following features in common: sternoclavicular hyperostosis and sterile inflammatory lesions in both bone and skin. These subtypes are:

  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 10 hours ago ... the various stages of kidney disease. View on Facebook · Share View on Facebook The Alport syndrome Foundation ...

  8. 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.

  9. Diagnosis of Sacroiliac Joint Syndrome

    Directory of Open Access Journals (Sweden)

    Ya.V. Fishchenko

    2017-03-01

    Full Text Available Background. Sacroiliac joints are the cause of pain syndromes in 15–30 % of patients, who complained of pain in lumbosacral spine. In this connection, the relevant issue is the differential diagnosis of pain syndromes in the sacroiliac joint with discogenic, arthrogenic and myofascial pain syndromes. The aim of the study was to assess the informativeness of different diagnostic tests during the diagnosis of sacroiliac pain syndromes, either alone or in combination, using as a verifying procedure the diagnostic block with local anesthetic performed under X-ray control. Materials and methods. We have observed 90 patients aged from 30 to 78 years with one- or two-sided pain syndrome in the lumbosacral spine, with or without irradiation in the lower limb, its duration was more than 2 months. Results. The highest sensitivity was observed in Gaenslen’s test (83 % as compared to other tests with lower overdiagnosis (73 %. The positive predictive value of this test was equal to 79 %. Conclusions. Tests in combination with diagnostic block can effectively diagnose the pathology of sacroiliac joint and differentiate it from discogenic or arthrogenic pathology of the lumbar spine and degenerative diseases of the hip joints.

  10. Disease, diagnosis or syndrome?

    Science.gov (United States)

    Pearce, J M S

    2011-04-01

    The advance of medical semantics is, in general, towards causation. As knowledge increases, the common consequence is the re-definition of disease. This starts with symptoms then a disorder of structure or function, abnormalities of images, genetics or biochemistry, the ultimate aim being a specific aetiological mechanism which replaces broader descriptions. But medical terminology of diseases, diagnoses and syndromes is inherently imprecise. Careless nomenclature causes confused dialogue and communication. Symptoms of uncertain cause are commonly lumped together and given a new 'diagnostic' label which also may confuse and produce false concepts that stultify further thought and research. Such medicalisation of non-specific aggregations of symptoms should be avoided. The defining characteristics of diseases and diagnoses should be validated and agreed. The pragmatic diagnoses of 'symptom of unknown cause' or 'non-disease' are preferable to falsely labelling patients with obscure or non-existent diseases. "I tried to unveil the stillness of existence through a counteracting murmur of words, and, above all, I confused things with their names: that is belief." Jean-Paul Sartre (The Words, 1964).

  11. Diagnosis of myofascial pain syndrome.

    Science.gov (United States)

    Gerwin, Robert D

    2014-05-01

    Myofascial pain is one of the most common causes of pain. The diagnosis of myofascial pain syndrome (MPS) is made by muscle palpation. The source of the pain in MPS is the myofascial trigger point, a very localized region of tender, contracted muscle that is readily identified by palpation. The trigger point has well-described electrophysiologic properties and is associated with a derangement of the local biochemical milieu of the muscle. A proper diagnosis of MPS includes evaluation of muscle as a cause of pain, and assessment of associated conditions that have an impact on MPS. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. 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 • ...

  13. Cardiorenal Syndrome: Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    O.O. Melnyk

    2017-03-01

    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.

  14. 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...

  15. Panayiotopoulos syndrome: diagnosis and management.

    Science.gov (United States)

    Parisi, P; Villa, M P; Pelliccia, A; Rollo, V C; Chiarelli, F; Verrotti, A

    2007-04-01

    Panayiotopoulos syndrome is a relatively frequent and benign epileptic syndrome, characterised by predominantly autonomic symptoms and/or simple motor focal seizures followed or not by impairment of consciousness. Interictal EEG shows occipital spikes although multifocal spikes with high amplitude sharp-slow wave complexes at various locations can be present. This syndrome can imitate gastroenteritis, encephalitis, syncope, migraine, sleep disorders or metabolic diseases. The peculiar aspects should be known not only by epileptologists but also by general doctors because a correct diagnosis would avoid aggressive interventions and concerns on account of its benign outcome. This review focuses on the main clinical and EEG features of this epilepsy underlining its typical and atypical symptoms and its management.

  16. [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.

  17. 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

  18. Diagnosis of polycystic ovary syndrome.

    Science.gov (United States)

    Trivax, Bradley; Azziz, Ricardo

    2007-03-01

    Polycystic ovary syndrome (PCOS) is a diagnosis of exclusion, with other androgen excess and ovulatory dysfunction disorders to be ruled out. There are 3 principal features of the syndrome, including hyperandrogenism, ovulatory dysfunction, and polycystic ovarian morphology. These features have been included in slightly different permutations in the 3 criteria currently available to diagnose PCOS, including that of the National Institutes of Health (NIH) 1990, Rotterdam 2003, and the Androgen Excess Society 2006. Overall, at least 1 in 15 women of reproductive age will be affected by PCOS, making this disorder the most common endocrine abnormality in this age group, with a health burden of over 4 billion dollars in the United States alone.

  19. [Casual diagnosis of Gitelman's syndrome].

    Science.gov (United States)

    Martín-Miguel, V; Lafarga-Giribets, M A; Garcia-Esteve, L; Rodrigo-Claverol, M D

    2014-10-01

    Gitelman's syndrome is a renal tubule disease of recessive autosomal inheritance in which the fundamental alteration is found in the distal tubule, specifically at the level of the Na/Cl cotransporter, is sensitive to thiazides, and coded in chromosome 16q. It is characterised by a metabolic alkalosis with normal blood pressure, hypokalaemia, as well as hypomagnesaemia and hypocalciuria, which separate it from Bartter's syndrome. Its diagnosis can be delayed up to the adult age, as patients may remain asymptomatic for long periods of time. The treatment consists of oral supplements of potassium and magnesium, and the use of potassium-sparing diuretics and indomethacin has also been described. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  20. 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.)

  1. Quadrilateral space syndrome: diagnosis, pathology, and treatment.

    Science.gov (United States)

    Lester, B; Jeong, G K; Weiland, A J; Wickiewicz, T L

    1999-12-01

    Quadrilateral space syndrome is an infrequent, recently established neurovascular compression syndrome affecting young active adults. With this syndrome, the neurovascular bundle, consisting of the posterior humeral circumflex artery (PHCA) and the axillary nerve, is compressed by fibrotic bands as it traverses the quadrilateral space. Symptoms result from compression of the axillary nerve, not from PHCA occlusion. Because of the vague, often nonspecific, clinical presentation of patients with quadrilateral space syndrome, diagnosis is challenging and requires a high index of suspicion from the orthopedist. Subclavian arteriography confirms the diagnosis. Treatment is usually conservative; operative management is reserved for selected patients. A posterior approach with detachment of the deltoid and teres minor muscles is recommended for surgical decompression and for lysis of fibrous tissue. We report two cases of persistent quadrilateral space syndrome in young adults, treated surgically, with 2-year follow-up. In the present report, diagnostic criteria, pathology, management, operative technique, and recent literature are also reviewed.

  2. 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.

  3. Reye's syndrome; diagnosis by muscle biopsy?

    Science.gov (United States)

    Shapira, Y; Deckelbaum, R; Statter, M; Tennenbaum, A; Aker, M; Yarom, R

    1981-01-01

    Three children with Reye's syndrome are described. One child died, the second had mild and transient illness, and the third had recurrent episodes. In all 3 children a muscle biopsy showed pronounced infiltration of the myofibres with fat microdroplets as shown by the oil red O stain and by electron microscopical examination. We suggest that needle biopsy of muscle may be a quick and safe aid to the diagnosis of Reye's syndrome, and may be preferable to liver biopsy in view of the pronounced tendency to bleed in Reye's syndrome. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 PMID:7247440

  4. Brugada syndrome: Diagnosis, risk stratification and management.

    Science.gov (United States)

    Gourraud, Jean-Baptiste; Barc, Julien; Thollet, Aurélie; Le Marec, Hervé; Probst, Vincent

    2017-03-01

    Brugada syndrome is a rare inherited arrhythmia syndrome leading to an increased risk of sudden cardiac death, despite a structurally normal heart. Diagnosis is based on a specific electrocardiogram pattern, observed either spontaneously or during a sodium channel blocker test. Among affected patients, risk stratification remains a challenge, despite recent insights from large population cohorts. As implantable cardiac defibrillators - the main therapy in Brugada syndrome - are associated with a high rate of complications in this population, the main challenge is risk stratification of patients with Brugada syndrome. Aside from the two main predictors of arrhythmia (symptoms and spontaneous electrocardiogram pattern), many risk factors have been recently suggested for stratifying risk of sudden cardiac death in Brugada syndrome. We have reviewed these data and discuss current guidelines in light of recent progress in this complex field. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  5. [Dyserythropoietic syndromes: incidence, diagnosis, therapy].

    Science.gov (United States)

    Cacciola, E

    1990-10-01

    The nosography of the dyserythropoietic syndromes remains poorly defined in the field of clinical hematology. The prominent pathophysiologic feature lies in the "ineffective erythropoiesis" as expressed by bone marrow erythroid hyperplasia with dysplasia accompanied by a normal or only slightly increased reticulocyte count. Both erythrokinetics and ferrokinetics are impaired, as shown by either slight reduction of the red cell survival or marked increased rate of serum iron transport together with reduced cellular iron utilization. The dyserythropoietic syndromes can be classified as acquired, secondary or congenital. The acquired ones, especially the sideroblastic forms, belonging to the myelodysplastic syndromes, are typical of the elderly whereas the congenital are of childhood. Their treatment is still a matter of controversy. However, the employment of folic acid, Vit. B12, pyridoxine and androgens can be useful in selected cases. In case of severe anemia, blood transfusion are required in association with iron chelating agents. However, some biological molecules, such as erythropoietin, interleukins 3 and 4, hemopoietic growth factors (especially GM-CSF), could represent future prospects of treatment.

  6. 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

  7. Restauration de Sapho ou Le Chant de Raoul Verlet

    Directory of Open Access Journals (Sweden)

    Lucie Courtiade

    2012-06-01

    Full Text Available L'étude de Sapho ou Le Chant, modèle de fonderie en plâtre élaboré par Raoul Verlet et conservé au Musée d'Angoulême depuis 1926, a permis d'aborder un sujet courant, celui des plâtres fracturés par l'expansion de la corrosion d'armatures internes causée par l'humidité. La principale intervention s'est axée sur le remontage des fragments nécessitant la conception d'une structure de remontage en acier inoxydable. Les interventions  structurelles ont été complétées par des collages simples ou renforcés des fragments de grandes dimensions.The study of Sapho ou Le Chant, a plaster cast foundry created by Raoul Verlet and preserved in the Angoulême Museum since 1926, has allowed to approach a common problematic, that one of split plaster cast by the expansion of steel reinforcements corrosion, caused by high humidity conservation conditions. The main intervention concerned the fragments reconstruction requiring the design and the execution of a stainless steel pedestal. The structural interventions was completed with simple and reinforced stickings of the larger fragments.

  8. 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.

  9. 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.

  10. 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 ...

  11. Type 4 cardiorenal syndrome: diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Luca Di Lullo

    2015-05-01

    Full Text Available The clinical presentation of, and diagnostic approach taken for, a 63-year-old man with worsening dyspnea, chest heaviness and widespread lower limb edema, leading to a diagnosis of type 4 cardiorenal syndrome, is presented. The most appropriate approach at point of care is thoroughly discussed.

  12. Cardiorenal Syndrome: Diagnosis and Management.

    Science.gov (United States)

    Orvalho, João S; Cowgill, Larry D

    2017-09-01

    Cardiorenal syndrome (CRS) has not been well characterized in veterinary medicine, yet an accurate appreciation of the kidney and the cardiovascular system and their interactions may have practical clinical implications. A consensus for cardiovascular-renal axis disorders of dogs and cats was recently attempted. The outcome of patients with CRS is likely to improve with the increasing awareness and ability to identify and understand the pathophysiologic characteristics of CRS. The utilization of existing and emerging organ-specific biomarkers with greater sensitivities than conventional diagnostics forecast new opportunities to diagnose and manage cardiac disease. Copyright © 2017 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    ... Diagnosis Treatment Jet Lag Overview Symptoms & Self Test Treatment Narcolepsy Overview & Facts Symptoms Self-Tests & Diagnosis Treatment Restless Legs Syndrome Overview & Facts Causes & Symptoms Self- ...

  14. Diagnosis and management of compartmental syndromes.

    Science.gov (United States)

    Matsen, F A; Winquist, R A; Krugmire, R B

    1980-03-01

    Patients at risk for compartmental syndromes challenge both the diagnostic and the therapeutic abilities of the physician. Suboptimum results may be due to delays in diagnosis and treatment, to incomplete surgical decompression, and to difficulties in the management of the limb after decompression. Although careful clinical assessment permits the diagnosis of a compartmental syndrome in most patients, we have found measurement of tissue pressure and direct nerve stimulation to be helpful for resolving ambiguous or equivocal cases. In our experience, the four-compartment parafibular approach to the leg and the ulnar approach to the volar compartments of the forearm provide efficient and complete decompression of potentially involved compartments. The skeletal stabilization of fractures associated with compartmental syndromes may facilitate management of the limb after surgical decompression.

  15. 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.

  16. 'Stockholm syndrome': psychiatric diagnosis or urban myth?

    Science.gov (United States)

    Namnyak, M; Tufton, N; Szekely, R; Toal, M; Worboys, S; Sampson, E L

    2008-01-01

    'Stockholm syndrome' is a term used to describe the positive bond some kidnap victims develop with their captor. High-profile cases are reported by the media although the diagnosis is not described in any international classification system. Here we review the evidence base on 'Stockholm syndrome'. Databases (PubMED, EMBASE, PsycINFO, CINAHL) were systematically searched. We compared features of cases widely reported in the English language media to identify common themes which may form a recognizable syndrome. We identified 12 papers that met inclusion criteria. The existing literature consists mostly of case reports; furthermore there is ambiguity in the use of the term. No validated diagnostic criteria have been described. Four common features were found between the five cases studied. There is little published academic research on 'Stockholm syndrome' although study of media reports reveals similarities between well publicized cases. This may be due to reporting and publication bias.

  17. [The Gitelman syndrome--a differential diagnosis of Bartter syndrome].

    Science.gov (United States)

    Zimmermann, J; Reincke, M; Schramm, L; Harlos, J; Allolio, B

    1994-12-15

    Hypokalemia due to renal potassium wasting in the absence of hypertension, moderate metabolic alkalosis, hyperreninism and hyperaldosteronism suggest the presence of Bartter's syndrome. The underlying cause is an inherited defect of sodium chloride reabsorption in the thick ascending limb of Henle. A differential diagnosis of Bartter's syndrome is Gitelman's syndrome, another hypokalemia-hypomagnesemia syndrome, which is thought to be caused by a transport defect in the distal tube. We report 3 patients presenting with signs primarily suggestive of Bartter's syndrome, who turned out to have Gitelman's syndrome after determining the excretion of calcium in the urine. Two women, 36- and 55-year old, suffered from paresthesias in the hands and feet and from tetanic convulsions. The brother of the 36-year old woman presented in our hospital because of an accidentally discovered hypokalemia without any clinical symptoms. In all patients the outstanding biochemical features were hypokalemia, hypomagnesemia and moderate metabolic alcalosis. The renin and aldosterone values were inappropriately high. The most characteristic finding in the urine, besides the presence of hyperkaliuria was the diminution of calcium excretion, despite normocalcemia. The association between sodium and calcium reabsorption in the loop of Henle predicts hypercalciuria in patients with a defect in salt reabsorption in this segment, as in Bartter's syndrome. In Gitelman's syndrome the laboratory features resemble the findings in Bartter's syndrome, except for the presence of hypocalciuria. Since hypocalciuria follows also the administration of thiazide diuretics, which act in the early part of distal tube, a transport defect in this part of the tube is thought to be responsible for the electrolyte disturbances in Gitelman's syndrome. The measurement of the urinary calcium excretion in patients with an unclear hypokalemia-hypomagnesemia-syndrome allows easily the differentiation between Bartter

  18. Diagnosis and Treatment of Hypophyseal Cushing’s Syndrome

    Directory of Open Access Journals (Sweden)

    M.L. Kirilyuk

    2014-09-01

    Full Text Available The paper deals with the questions on etiology, pathogenesis and diagnosis of hypophyseal Cushing’s syndrome. There are described the clinical picture of Cushing’s syndrome as well as the conditions associated with hypercorticoidism in the absence of Cushing’s syndrome. There are dwelt the principles of laboratory and instrumental diagnosis and treatment of this syndrome.

  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. [Differential diagnosis of post-concussive syndrome].

    Science.gov (United States)

    Pelegrín-Valero, C; Fernández-Guinea, S; Tirapu-Ustarroz, J; Múñoz-Céspedes, J M

    Posconcussional syndrome is characterized by a heterogeneous group of somatic, cognitive and psychosocial symptoms, which occur in patients with head trauma, generally of mild severity. It is the neuropsychiatric postraumatic disorder more prevalent in the field of forensic medicine. Classical authors (Lishamn and Barraquer, for example) focused on controversial aspects of this syndrome, such as conceptual problems and etiology (organic versus functional). The objective of this report is to review the posconcussional literature in search of relevant aspects in forensic neuropsychology: conceptual aspects, epidemiology, etiology, clinical features, methodology for assessment, and its differential diagnosis with other postraumatic disorders, such as postraumatic stress disorder, adjustment disorder, anxiety disorder, mood disorders (major depressive disorder), substancerelated disorders, dementia due to head trauma, amnesic disorder, somatoform disorders, factitious disorder, malingering, chronic pain and chronic whiplash syndrome.

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

    Science.gov (United States)

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

    2015-07-01

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

  2. CFC index for the diagnosis of cardiofaciocutaneous syndrome

    OpenAIRE

    Kavamura, Maria Ines; Peres, Clovis de Araujo [UNIFESP; Alchorne,Maurício Mota de Avelar; Brunoni, Decio [UNIFESP

    2002-01-01

    Controversy exists concerning the delineation of cardiofaciocutaneous syndrome (CFC). Many authors have attempted to establish syndrome traits for CFC, but to date none are pathognomonic or obligatory. We have created a clinical and objective method, called the CFC index, for CFC diagnosis. This method also differentiates CFC from Noonan syndrome and Costello syndrome, CFC's main differential diagnosis. We propose the use of the CFC index for the confirmation of CFC diagnosis and to different...

  3. Chronic fatigue syndrome: aetiology, diagnosis and treatment

    Science.gov (United States)

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

    2009-01-01

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

  4. 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.

  5. Chronic fatigue syndrome: aetiology, diagnosis and treatment.

    Science.gov (United States)

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

    2009-10-23

    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.

  6. [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.

  7. Chronic fatigue syndrome: diagnosis and treatment.

    Science.gov (United States)

    Yancey, Joseph R; Thomas, Sarah M

    2012-10-15

    Chronic fatigue syndrome is characterized by debilitating fatigue that is not relieved with rest and is associated with physical symptoms. The Centers for Disease Control and Prevention criteria for chronic fatigue syndrome include severe fatigue lasting longer than six months, as well as presence of at least four of the following physical symptoms: postexertional malaise; unrefreshing sleep; impaired memory or concentration; muscle pain; polyarthralgia; sore throat; tender lymph nodes; or new headaches. It is a clinical diagnosis that can be made only when other disease processes are excluded. The etiology of chronic fatigue syndrome is unclear, is likely complex, and may involve dysfunction of the immune or adrenal systems, an association with certain genetic markers, or a history of childhood trauma. Persons with chronic fatigue syndrome should be evaluated for concurrent depression, pain, and sleep disturbances. Treatment options include cognitive behavior therapy and graded exercise therapy, both of which have been shown to moderately improve fatigue levels, work and social adjustment, anxiety, and postexertional malaise. No pharmacologic or alternative medicine therapies have been proven effective.

  8. [X isochromosomes: delayed diagnosis of Turner's syndrome].

    Science.gov (United States)

    Cuesta Hernández, M; Rueda Valencia, M E; Pérez Rodríguez, O; López de Lara, D

    2015-01-01

    Turner syndrome is diagnosed by the combination of certain phenotypic characteristics with the absence of one of the X chromosome. This absence may be total or partial, as occurs in isochromosomes Xq. The phenotypic consequences of these depend on two factors: the characteristics of the lost genes and the percentage of cells 45, X in mosaicisms. The clinical features also change with the cytogenetic pattern. Short stature is the most common phenotypic manifestation, as it is due to the haploinsufficiency of the SHOX gene on the short arm of X chromosomes. Thus, when there is isochromosomes on the long arms, short stature is always present. However, the typical features of this syndrome could be absent, and the diagnosis can be delayed. This occurred in our patients, who will not be able to obtain optimum benefits with growth hormone treatment. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  9. 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.

  10. 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.

  11. 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

  12. [Differential diagnosis of parkinsonian syndromes using MRI].

    Science.gov (United States)

    Mahlknecht, P; Schocke, M; Seppi, K

    2010-10-01

    The differential diagnosis of parkinsonian syndromes is considered one of the most challenging in clinical neurology. Despite published consensus operational criteria for the diagnosis of Parkinson's disease (PD) and the various atypical parkinsonian disorders (APD), such as progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and corticobasal degeneration (CBD), the clinical separation of APDs from PD carries a high rate of misdiagnosis. However, the early differentiation between APD and PD, each characterized by a very different natural history, is crucial for determining the prognosis and choosing a treatment strategy. Despite limitations the various modern magnetic resonance imaging (MRI) techniques have undoubtedly added to the differential diagnosis of neurodegenerative parkinsonism. In clinical practice conventional MRI with visual assessment of T2 and T1-weighted imaging is a well established method for the exclusion of symptomatic parkinsonism due to other pathologies and may also point to the diagnosis of APD. Furthermore, advances in MRI techniques, such as diffusion-weighted imaging (DWI), have enabled abnormalities in the basal ganglia and infratentorial brain structures in APD to be quantitatively illustrated.

  13. The marijuana withdrawal syndrome: diagnosis and treatment.

    Science.gov (United States)

    Haney, Margaret

    2005-10-01

    A subset of marijuana smokers develop a cannabis use disorder and seek treatment for their marijuana use on their own initiative. A less well-known consequence of daily, repeated marijuana use is a withdrawal syndrome, characterized by a time-dependent constellation of symptoms: irritability, anxiety, marijuana craving, decreased quality and quantity of sleep, and decreased food intake. Treatment studies show that rates of continuous abstinence are low (comparable to relapse rates for other abused drugs), and more treatment options are needed. The objective of this review is to update clinicians on the current state of marijuana research and to describe features of marijuana withdrawal to facilitate the diagnosis and treatment of cannabis use disorders.

  14. Impact of copeptin on diagnosis of acute coronary syndrome

    African Journals Online (AJOL)

    Zeinab H. El Sayed

    2014-03-17

    Mar 17, 2014 ... Abstract Background: Acute coronary syndrome remains the principal cause of death, so the early diagnosis is of great ... copeptin and cardiac troponin I is being suggested for early diagnosis of acute coronary syndrome. Subject: It was done to .... used for solid phase immobilization (on the microtiter wells).

  15. 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.

  16. CFC index for the diagnosis of cardiofaciocutaneous syndrome.

    Science.gov (United States)

    Kavamura, M I; Peres, C A; Alchorne, M M A; Brunoni, D

    2002-09-15

    Controversy exists concerning the delineation of cardiofaciocutaneous syndrome (CFC). Many authors have attempted to establish syndrome traits for CFC, but to date none are pathognomonic or obligatory. We have created a clinical and objective method, called the CFC index, for CFC diagnosis. This method also differentiates CFC from Noonan syndrome and Costello syndrome, CFC's main differential diagnosis. We propose the use of the CFC index for the confirmation of CFC diagnosis and to differentiate CFC from other phenotypically similar genetic conditions, while molecular studies are still in progress. Copyright 2002 Wiley-Liss, Inc.

  17. The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome.

    Science.gov (United States)

    Smeets, E; Fryns, J P; Van den Berghe, H

    1996-01-01

    In this report we describe the typical clinical signs and symptoms in a young female child with Floating-Harbor syndrome. A review of the literature is presented and the differential diagnosis with Shprintzen syndrome is discussed.

  18. Diagnosis and therapy of irritable bowel syndrome.

    Science.gov (United States)

    De Giorgio, R; Barbara, G; Stanghellini, V; Cremon, C; Salvioli, B; De Ponti, F; Corinaldesi, R

    2004-07-01

    Irritable bowel syndrome (IBS) is one of the most common gut functional diseases, affecting 10-20% of people worldwide. Although most patients do not seek medical help, the disease accounts for huge costs for both patients and health-care systems and worsens significantly patients' quality of life. Diagnosis is based on the identification of symptoms according to Manning, Rome I and Rome II criteria and exclusion of alarm indicators. IBS symptoms overlap with those of coeliac disease, lactose intolerance, food allergies and bile salt malabsorption. The treatment of IBS is centred on an excellent doctor-patient relationship along with drugs targeting the predominant symptom, especially during exacerbations. Current pharmacological remedies are unsatisfactory due to the high number of patients complaining of lack of response and/or symptom recurrence. Although useful in some IBS patients, the validity of psychotherapy deserves further investigation. A wide array of potentially useful drugs are currently under consideration in pre-clinical trials. A better understanding of the pathogenetic mechanisms underlying IBS may help to develop more effective drugs for this disease.

  19. The differential diagnosis of familial lentiginosis syndromes.

    Science.gov (United States)

    Lodish, Maya B; Stratakis, Constantine A

    2011-09-01

    Cutaneous markers of systemic disease are vital for clinicians to recognize. This chapter outlines familial lentiginosis syndromes that include Peutz-Jeghers syndrome, Carney Complex, the PTEN hamartomatous syndromes, and LEOPARD/Noonan syndrome. The inheritance of these syndromes is autosomal dominant; they also share characteristic skin findings that offer a clue to their recognition and treatment. We will discuss the clinical presentation of these disorders, with a focus on the dermatological manifestations, and will provide an update on the molecular mechanisms involved. Recognition of cutaneous markers associated with these rare familial cancer syndromes provides the opportunity to pursue early surveillance for malignancies, as well as genetic counseling.

  20. Piriformis syndrome in fibromyalgia: clinical diagnosis and successful treatment.

    Science.gov (United States)

    Siddiq, Md Abu Bakar; Khasru, Moshiur Rahman; Rasker, Johannes J

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  1. Deep Learning Based Syndrome Diagnosis of Chronic Gastritis

    Science.gov (United States)

    Liu, Guo-Ping; Wang, Yi-Qin; Zheng, Wu; Zhong, Tao; Lu, Xiong; Qian, Peng

    2014-01-01

    In Traditional Chinese Medicine (TCM), most of the algorithms used to solve problems of syndrome diagnosis are superficial structure algorithms and not considering the cognitive perspective from the brain. However, in clinical practice, there is complex and nonlinear relationship between symptoms (signs) and syndrome. So we employed deep leaning and multilabel learning to construct the syndrome diagnostic model for chronic gastritis (CG) in TCM. The results showed that deep learning could improve the accuracy of syndrome recognition. Moreover, the studies will provide a reference for constructing syndrome diagnostic models and guide clinical practice. PMID:24734118

  2. Piriformis Syndrome in Fibromyalgia: Clinical Diagnosis and Successful Treatment

    Directory of Open Access Journals (Sweden)

    Md Abu Bakar Siddiq

    2014-01-01

    Full Text Available Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis muscle or sciatic nerve. In this paper, we describe piriformis and fibromyalgia syndrome in a 30-year-old young lady, an often missed diagnosis. We also focus on management of the piriformis syndrome.

  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. Right subclavian steal syndrome. Role of ultrasound in diagnosis

    Directory of Open Access Journals (Sweden)

    Eduardo Sabia

    2017-02-01

    We point out the importance of an early diagnosis in patients with panvascular disease undergoing myocardial revascularization surgery, which could avoid post surgical complications such as coronary steal syndrome.

  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. EmoBurnout: An Approach for Supporting Burnout Syndrome Diagnosis.

    Science.gov (United States)

    Martinez, Esteban; Mera, Giovanni; González, Carolina; López, Diego M; Blobel, Bernd

    2015-01-01

    Burnout is scientifically a work related syndrome which consists of three dimensions: emotional exhaustion, depersonalization and reduced professional efficacy. Different instruments for the diagnosis of burnout exist, accompanied by many associated problems, however. This paper describes a proposal aiming at supporting the diagnosis of burnout using measures complementary to the Maslach Burnout Inventory (MBI). It specifically focuses on emotions detection to provide useful information that contributes to the decision making process about the syndrome.

  7. Angelman Syndrome. Part 2 (Clinical Picture and Diagnosis

    Directory of Open Access Journals (Sweden)

    O.Ye. Abaturov

    2015-10-01

    Full Text Available The article presents the main clinical manifestations of Angelman syndrome. The article contains current data about the features of the physical, intellectual, verbal and sexual development of patients with Angelman syndrome. There are shown the data of the relationship of clinical features of Angelman syndrome with the nature of genetic disorders. The article presents the clinical criteria for diagnosis of Angelman syndrome in view of the incidence of key clinical signs. The authors reviewed the intended use of the molecular genetic analysis to verify the diagnosis and determine the genetic mechanism of Angelman syndrome. This article contains the algorithm of laboratory and diagnostic methods for molecular genetic exa-mination of patients with Angelman syndrome.

  8. Early diagnosis of Canavan syndrome: how can we get there?

    Science.gov (United States)

    De Bernardo, Giuseppe; Giordano, Maurizio; Sordino, Desiree; Buono, Salvatore

    2015-08-05

    Canavan syndrome is a rare genetic disorder characterised by progressive severe leukodystrophy involving the degeneration of white matter. Currently, there is no effective therapy, but after recent studies using early gene therapy, the outcome has appeared to improve. It is of fundamental importance to recognise signs of neonatal Canavan syndrome early on. We describe a case of neonatal Canavan syndrome in which diagnosis was made only at the fourth month of age. 2015 BMJ Publishing Group Ltd.

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

    Directory of Open Access Journals (Sweden)

    N N Volevodz

    2008-03-01

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

  10. Electromyographic diagnosis of the carpal tunnel syndrome

    Directory of Open Access Journals (Sweden)

    K. Toyonaga

    1978-06-01

    Full Text Available Sensory conduction velocities of the median nerVe were studied from digit to palm and from palm to wrist in normal subjects and in patients with the carpal tunnel syndrome. Definite slowing was noted in the palm to wrist segment, even in the early carpal tunnel syndrome. It was noted that 37% of normal women over 40 years of age had electrophysiological evidence of the carpal tunnel syndrome.

  11. 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.

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

    African Journals Online (AJOL)

    The predictive value of syndromic approach to diagnosis of malaria among adults attending the outpatient clinic of a tertiary hospital in Ikeja, Lagos. ... However, in settings where parasitological diagnosis is not possible, the use of detailed weighting and scoring systems for clinical symptoms and signs of malaria may ...

  13. 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.

  14. 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 ...

  15. 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.

  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. Metabolic syndrome in children and adolescents - criteria for diagnosis

    Directory of Open Access Journals (Sweden)

    Mancini Marcio C

    2009-10-01

    Full Text Available 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 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.

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    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....... 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 diagnosis increased during the study period, uninfluenced by the changes...

  19. [Mushroom poisonings: syndromic diagnosis and treatment].

    Science.gov (United States)

    Kaufmann, Peter

    2007-01-01

    The major syndromes of mushroom poisoning can be divided by presentation timing: Early syndromes (symptom onset 6 hrs after ingestion) are life-threatening due to liver- and renal failure. Patients who are jaundiced after an acute gastrointestinal episode, are suspected to be poisoned with Amatoxins. Patients with flank pain, hematuria, polyuria or oliguria in the absence of jaundice are suspected to have an intoxication with Cortinarius mushrooms. In both cases an intensive care management is indicated.

  20. Serotonin Syndrome: Clinical Findings, Diagnosis, Management

    Directory of Open Access Journals (Sweden)

    Pedro Cintra

    2014-06-01

    Full Text Available The serotonin syndrome is a relatively infrequent clinical entity, but can have potentially lethal consequences. The spectrum of manifestations is highly variable, ranging from mild diarrhea to tremor and mental status changes, autonomic hyperactivity, hyperthermia and clonic contractions. Eighty-five percent of physicians are not familiar with the characteristics of the syndrome. We propose to briefly review its epidemiology, pathophysiology, clinical manifestations, diagnostic criteria and therapeutic, emphasizing practical aspects of clinical performance.

  1. Hypothalamic adipsic syndrome: diagnosis and management.

    Science.gov (United States)

    Ball, S G; Vaidja, B; Baylis, P H

    1997-10-01

    Patients with hypothalamic adipsic syndrome, especially in conjunction with diabetes insipidus, pose management difficulties. They are at risk of both under- and over-hydration. We present 4 patients with hypothalamic adipsic syndromes, due to different causes, illustrating the practical difficulties encountered in this condition. The principles of management, with a sliding scale of water intake related to changes in daily body weight, are discussed.

  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. 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.

  4. 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.

  5. Current differential diagnosis of hypereosinophilic syndrome

    OpenAIRE

    Dinić-Uzurov Vera; Lalošević Vesna; Milošević Ivana; Urošević Ivana; Lalošević Dušan; Popović Stevan

    2007-01-01

    Introduction. Hypereosinophilic syndrome (HES) is a group of idiopathic disorders associated with single or multiple organ system dysfunction. HES must be distinguished from reactive eosinophilia in parasitic infections, allergic diseases, and especially from hematological diseases of clonal origin. Reactive eosinophilia due to infectious and parasitic diseases. Tissue helminth infections, especially toxocariasis, cause severe and long-standing hypereosinophilia. Despite specific therapy, eos...

  6. Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: Diagnosis

    Science.gov (United States)

    ... Controls Search Form Controls Cancel Submit Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Note: Javascript is disabled or is not supported ... message, please visit this page: About CDC.gov . ME/CFS What is ME/CFS Possible Causes Symptoms and ...

  7. 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…

  8. Ultrasound diagnosis of ulnar nerve dislocation and snapping triceps syndrome

    Directory of Open Access Journals (Sweden)

    Vivek Bhagwat Gupta

    2012-06-01

    Full Text Available Dislocation of the ulnar nerve with snapping triceps syndrome has been implicated as a cause of cubital tunnel syndrome. Patients with this condition may clinically present with a snapping sensation at the elbow upon flexion along with ulnar neuropathic symptoms. Though demonstration of this condition is possible by static MRI images, ultrasound can be used as a more accessible and inexpensive modality for attaining diagnosis. This pictorial essay emphasises the technique, findings and role of dynamic ultrasound in the diagnosis of this entity.

  9. Recent advances in chromosome breakage syndromes and their diagnosis.

    Science.gov (United States)

    Mathur, R; Chowdhury, M R; Singh, G

    2000-06-01

    Chromosome instability is a characteristic cytogenetic feature of a number of genetically determined disorders collectively called as the chromosome breakage syndromes or DNA-repair disorders. They are characterized by susceptibility to chromosomal breakages, increased frequency of breaks and interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. These diseases are a group of genetic disorders sharing a number of features. They are all autosomal recessive, show an increased tendency for chromosomal aberrations and to develop malignancies. The principal diseases in this group having a diverse etiology and clinical manifestations include Fanconi anemia (FA), ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), Bloom syndrome (BS), xeroderma pigementosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). The underlying defect in these syndromes is the inability to repair a particular type of DNA damage. A number of repair disorder phenotypes are caused by more than one gene. The diagnosis of these syndromes is made by the characteristic clinical features specific to each disease, but the definitive diagnosis is achieved by laboratory investigations such as cytogenetic, biochemical and molecular methods. The importance of prenatal diagnosis and our experience are discussed in this article.

  10. In utero diagnosis of caudal regression syndrome

    Directory of Open Access Journals (Sweden)

    Lindsey M. Negrete, BS

    2015-01-01

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

  11. Acute Compartment Syndrome in Orthopedics: Causes, Diagnosis, and Management

    Science.gov (United States)

    Raza, Hasnain; Mahapatra, Anant

    2015-01-01

    Almost all orthopaedic surgeons come across acute compartment syndrome (ACS) in their clinical practice. Diagnosis of ACS mostly relies on clinical findings. If the diagnosis is missed and left untreated, it can lead to serious consequences which can endanger limb and life of the patient and also risk the clinician to face lawsuits. This review article highlights the characteristic features of ACS which will help an orthopaedic surgeon to understand the pathophysiology, natural history, high risk patients, diagnosis, and surgical management of the condition. PMID:25688303

  12. Urinary free cortisol in the diagnosis of Cushing's syndrome: How ...

    African Journals Online (AJOL)

    Its long‑term use in clinical practice has led to emergence of significant evidence regarding the utility of UFC in the diagnosis of Cushing's syndrome. UFC would have been a simple diagnostic tool to use but for the drawbacks in the sample collection, different laboratory methods of assay, not easily determined normal ...

  13. [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.

  14. A guide to diagnosis and treatment of Leigh syndrome

    NARCIS (Netherlands)

    Baertling, F.; Rodenburg, R.J.T.; Schaper, J.; Smeitink, J.A.M.; Koopman, W.J.H.; Mayatepek, E.; Morava, E.; Distelmaier, F.

    2014-01-01

    Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. However, also late-onset cases have been reported. Since its first description by Denis Archibald Leigh in 1951, it has evolved from a postmortem diagnosis, strictly defined by

  15. [Device diagnosis and combined treatment of hyperventilation syndrome].

    Science.gov (United States)

    2012-01-01

    Hyperventilation syndrome is a separate disease and a symptom of other psychosomatic diseases. A variant of device diagnosis of the disease is proposed--integral rheoplethysmography by M. I. Tischenko and cardiointervalography by R. M. Baevsky. Hyper- and asthenic courses of the disease are described, the pathological psychoemotional pattern is recognized. The proposed treatment combines physiohemotherapy (laser treatment) and pharmacotherapy.

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

    African Journals Online (AJOL)

    We systematically reviewed the available literature and meta-analyzed the data which was specialized in Down syndrome (DS) diagnosis with proteomic techniques. Pubmed, EBSCOhost and ScienceDirect searches for relevant articles published from inception until July 2010 were obtained and ten articles were selected.

  17. 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 ...

  18. Cardio-renal syndrome: diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    Erico Segovia

    2011-05-01

    Full Text Available Heart and renal diseases frequently coexist. Both conditions share several pathogenic mechanisms, are difficult to manage and expensive to treat due to frequent hospitalizations and the requirement of uncommon procedures. They also entail significant morbidity and mortality. The Cardio-Renal Syndrome has been described, in which both organs are involved and their interaction is both ways. The article also covers the five-type classification and their different characteristics are described. Different possible therapies are looked into referring to studies and documented experiences, highlighting the risks and advantages of each one of them.

  19. Diagnosis of Irritable Bowel Syndrome: Role of Potential Biomarkers

    Directory of Open Access Journals (Sweden)

    Ivana Plavšić

    2015-01-01

    Full Text Available Irritable bowel syndrome is a disorder diagnosed on symptom-based criteria without inclusion of any objective parameter measurable by known diagnostic methods. Heterogeneity of the disorder and overlapping with more serious organic diseases increase uncertainty for the physician’s work and increase the cost of confirming the diagnosis. This paper is an attempt to summarize the efforts to find adequate biomarkers for irritable bowel syndrome, which should shorten the time to diagnosis and reduce the cost. Most of the reviewed papers were observational studies from secondary care institutions. Since publication of the Rome III criteria in 2006, most recent studies use these for the recruitment of IBS patients. This is a positive step forward as future studies should use the same criteria, facilitating comparison of their results. Among the studied biomarkers, most evidence is provided for fecal calprotectin. Cutoff values for fecal calprotectin have still to be investigated prior to inclusion in the irritable bowel syndrome diagnostic algorithm.

  20. Reye's syndrome. A reappraisal of diagnosis in 49 presumptive cases.

    Science.gov (United States)

    Gauthier, M; Guay, J; Lacroix, J; Lortie, A

    1989-10-01

    We retrospectively studied 49 patients who were discharged from Sainte-Justine Hospital, Montreal, Canada, or who died between 1970 and 1987 with a presumptive diagnosis of Reye's syndrome. Reye's syndrome was defined as certain, probable, unlikely, or excluded according to clinical, biological, and histologic criteria agreed on a priori by a panel of experts. Patient charts were reviewed blindly by three clinicians. Assessments were similar in 42 cases (86%) (weighted K = 0.78 to 0.85, which suggested substantial agreement); for the remainder, agreement was reached after discussion. Reye's syndrome was considered certain in 1 case (2%), probable in 11 (22%), unlikely in 21 (43%), and excluded in 15 (31%). Four children in the study group did not undergo biopsy or autopsy; in three of these, Reye's syndrome was unlikely according to clinical and biological criteria, and in one, the diagnosis was unclassifiable. The incidence of certain or probable Reye's syndrome was low in our institution during the study period. Our results suggest that the apparent disappearance of Reye's syndrome should be reassessed.

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

    Directory of Open Access Journals (Sweden)

    Trento Cleverson L

    2011-01-01

    Full Text Available Abstract The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.

  2. Differential diagnosis of cyclic vomiting syndrome.

    Science.gov (United States)

    Forbes, D

    1995-01-01

    Vomiting is a nonspecific symptom and cyclic vomiting is a symptom complex that may result from a disorder of any major organ system. Children with cyclic vomiting syndrome (CVS) need careful review and investigation at their earliest presentations to exclude potentially lethal abnormalities such as intestinal volvulus, metabolic disorders, and neurologic space-occupying lesions. The range of abnormalities that may present with features consistent with CVS includes gastrointestinal obstructive, inflammatory and motility abnormalities, pancreatic disease, metabolic disease (particularly the amino acid-opathies, organic acidurias, fatty acid oxidation defects, and acute intermittent porphyria), renal disease, epilepsy, migraine, and psychiatric disorders. Careful history taking will usually provide clues to these uncommon problems, but all children should undergo baseline assessment of gastrointestinal morphology and screening tests for renal and metabolic disease.

  3. A Trial Diagnosis of Ascites Syndrome in Broiler Chickens.

    Science.gov (United States)

    Liu, Wuyi

    Ascites syndrome is currently a serious disease issue for the global chicken industry. Ascites syndrome is a metabolic disorder frequently found in fast growing broilers including abdominal distention and standing fluid collection in chicken abdomen. It is one of the most common nutrition metabolic disorders. In this study, the clinical diagnosis technology of broiler ascites symptoms mainly included the trial inquiry of feeders and administrators, local observation, detection of farm gas and faeces and pathological autopsy. The study investigated the case of broiler ascites syndrome of local commercial broiler chickens at the age of 4-5 weeks to reduce outburst of ascites syndrome in broiler chickens. Through the trial clinical diagnosis of broiler ascites symptoms and pathological autopsy and observation, it came to the definite diagnosis of broiler ascites. Subsequent investigation found that the rearing houses were closed and sealed with poor ventilation and a high breeding density and much ammonia gas. Under the comprehensive management and drug treatments, there were 800 chickens found ill and later came back to normal from illness after the treatments, except for the death of 38 sick chickens. The appetite and drink of broiler chicken came to normal gradually.

  4. 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.

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

    Science.gov (United States)

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

    2014-11-18

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

  6. 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.

  7. Quadrilateral space syndrome: diagnosis and operative decompression technique.

    Science.gov (United States)

    Francel, T J; Dellon, A L; Campbell, J N

    1991-05-01

    We present a series of five patients with quadrilateral space syndrome. All patients had the diagnosis made on the basis of (1) tenderness over the quadrilateral space, (2) paresthesia over the lateral shoulder and upper posterior arm, and (3) deltoid weakness associated with decreased shoulder abduction. A history of trauma was present in each patient. The operative technique described utilizes a cosmetically acceptable incision and is without the need to divide the deltoid from its origin on the scapular spine. The technique minimizes postoperative bleeding and facilities rehabilitation. Arteriography of the posterior circumflex humeral artery was not found necessary to make the diagnosis of axillary nerve entrapment in the quadrilateral space.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2005-10-01

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

  9. 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.

  10. 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.

  11. [Incomplete androgen insensitivity syndrome. Difficulties of diagnosis and management].

    Science.gov (United States)

    Forest, M G; Mollard, P; David, M; Morel, Y; Bertrand, J

    1990-02-01

    A familial form of incomplete androgen insensitivity syndrome (AIS) is reported. The index case was first seen at 9 months of age for ambiguous genitalia. Diagnosis of AIS, suspected but first discarded on the basis of an androgen sensitivity test, was finally made at puberty on the discordance between poor virilization and elevated levels of both testosterone and LH, a florid gynecomastia, and the exclusion of any enzymatic defect in testosterone biosynthesis of 5 alpha-reductase deficiency. Androgen receptors in public skin were within the limits of normal for total number, with normal affinity. Familial occurrence included 2 first cousins born 7 and 10 years later, a maternal grand-uncle with similar ambiguous genitalia, and a maternal uncle with the gynecomastia-preserved fertility syndrome. This case report illustrates the heterogeneity of AIS in a given family and the difficulty of and early positive diagnosis in a newborn presenting with sexual ambiguity.

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

    Directory of Open Access Journals (Sweden)

    Mot, T.,

    2008-06-01

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

  13. 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

  14. [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.

  15. [Diagnosis and Treatment of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome].

    Science.gov (United States)

    Kuratsune, Hirohiko

    2018-01-01

    We present here the Japanese clinical diagnostic criteria for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) that were proposed in 2016 by the Japanese Ministry of Health, Labour and Welfare study group. The clinical diagnosis criteria of ME/CFS were created to be used by healthcare agencies in charge of primary care practice. We also explain the current prognosis in ME/CFS and medical treatments used in major medical institutions in Japan.

  16. Clinical predictors and differential diagnosis of posterior reversible encephalopathy syndrome

    OpenAIRE

    della Faille, Laetitia; Fieuws, Steffen; Van Paesschen, W.

    2017-01-01

    The aim of our study is to determine the clinical predictors and the differential diagnosis of posterior reversible encephalopathy syndrome (PRES) in patients presenting with acute neurological symptoms and risk factors for PRES. Using the diagnostic algorithm for PRES from Fugate and Rabinstein (Lancet Neurol 14(9):914-925, 1), we carried out a retrospective study on 220 patients, presenting with acute neurological symptoms such as seizures, encephalopathy, headache, visual disturbances or o...

  17. Clinical predictors and differential diagnosis of posterior reversible encephalopathy syndrome

    OpenAIRE

    Faille, Laetitia della; Fieuws, S.; Van Paesschen, W.

    2017-01-01

    The aim of our study is to determine the clinical predictors and the differential diagnosis of posterior reversible encephalopathy syndrome (PRES) in patients presenting with acute neurological symptoms and risk factors for PRES. Using the diagnostic algorithm for PRES from Fugate and Rabinstein (Lancet Neurol 14(9):914?925, 1), we carried out a retrospective study on 220 patients, presenting with acute neurological symptoms such as seizures, encephalopathy, headache, visual disturbances or o...

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

    Science.gov (United States)

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

    2009-01-01

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

  19. Goldenhar syndrome: a rare diagnosis with possible prenatal findings.

    Science.gov (United States)

    Ribeiro, Bárbara; Igreja, Joana; Gonçalves-Rocha, Miguel; Cadilhe, Alexandra

    2016-06-21

    Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed. 11 syndromes with poor fetal or neonatal prognosis were identified as possible diagnosis, using a genetic database and the couple asked for a medical termination of pregnancy. Postmortem examination has shown features consistent with Goldenhar syndrome. 2016 BMJ Publishing Group Ltd.

  20. [Sturge-Weber syndrome: differential diagnosis of neurocysticercosis].

    Science.gov (United States)

    Stokes, A C; Hernández-Cossio, O; Hernández-Fustes, O J; Munhoz, R P; Hernández-Fustes, O J; Francisco, A N

    The Sturge-Weber syndrome is characterized by facial cutaneous angioma associated with leptomeningeal and cerebral angioma, typically ipsilateral to the facial lesion, which is accompanied by convulsions, mental retardation, contralateral hemiparesia, hemiatrophy, homonymous hemianopsia and glaucoma. Most of the patients with radiographic evidence of intracranial angioma develop convulsive crises, but only half have severe mental retardation. The image of calcification on cranial tomography often leads to confusion in diagnosis, especially with neurocysticercosis, particularly in places where this is endemic and the patients present with minimal skin lesions or these are at atypical sites. We present the case of a 13 year-old boy hospitalized with status epilepticus who, since the age of 1 year and 3 months, had had convulsive seizures which were of generalized tonic-clonic type and partially complex with secondary generalization, treated with carbamazepine at a dose of 400 mg per day. Neurocysticercosis was diagnosed on a tomogram showing calcification of the left parieto-occipital gyrus. Following physical examination and complementary tests the diagnosis of Sturge-Weber syndrome was made. We emphasize the importance of the diagnosis of Sturge-Weber syndrome, its clinical picture and treatment.

  1. 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.

  2. 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

  3. Pathophysiology, diagnosis and management of postoperative dumping syndrome.

    Science.gov (United States)

    Tack, Jan; Arts, Joris; Caenepeel, Philip; De Wulf, Dominiek; Bisschops, Raf

    2009-10-01

    Dumping syndrome is a frequent complication of esophageal, gastric or bariatric surgery. Rapid gastric emptying, with the delivery to the small intestine of a significant proportion of solid food as large particles that are difficult to digest, is a key event in the pathogenesis of this syndrome. This occurrence causes a shift of fluid from the intravascular component to the intestinal lumen, which results in cardiovascular symptoms, release of several gastrointestinal and pancreatic hormones and late postprandial hypoglycemia. Early dumping symptoms comprise both gastrointestinal and vasomotor symptoms. Late dumping symptoms are the result of reactive hypoglycemia. Besides the assessment of clinical alertness and endoscopic or radiological imaging, a modified oral glucose tolerance test might help to establish a diagnosis. The first step in treating dumping syndrome is the introduction of dietary measures. Acarbose can be added to these measures for patients with hypoglycemia, whereas several studies advocate guar gum or pectin to slow gastric emptying. Somatostatin analogs are the most effective medical therapy for dumping syndrome, and a slow-release preparation is the treatment of choice. In patients with treatment-refractory dumping syndrome, surgical reintervention or continuous enteral feeding can be considered, but the outcomes of such approaches are variable.

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

    DEFF Research Database (Denmark)

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

    2009-01-01

    is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based diagnosis has allowed insight into the great variation in expression of FLCN, both within and between families. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive......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...

  5. The Pathophysiology, Diagnosis and Current Management of Acute Compartment Syndrome

    Science.gov (United States)

    Donaldson, James; Haddad, Behrooz; Khan, Wasim S

    2014-01-01

    Acute compartment syndrome (ACS) is a surgical emergency warranting prompt evaluation and treatment. It can occur with any elevation in interstitial pressure in a closed osseo-fascial compartment. Resultant ischaemic damage may be irreversible within six hours and can result in long-term morbidity and even death. The diagnosis is largely clinical with the classical description of ‘pain out of proportion to the injury’. Compartment pressure monitors can be a helpful adjunct where the diagnosis is in doubt. Initial treatment is with the removal of any constricting dressings or casts, avoiding hypotension and optimizing tissue perfusion by keeping the limb at heart level. If symptoms persist, definitive treatment is necessary with timely surgical decompression of all the involved compartments. This article reviews the pathophysiology, diagnosis and current management of ACS. PMID:25067973

  6. Diagnosis and management of the overlap syndromes of autoimmune hepatitis

    Science.gov (United States)

    Czaja, Albert J

    2013-01-01

    BACKGROUND: Autoimmune hepatitis may have cholestatic features that are outside the classical phenotype and that resemble findings in other immune-mediated liver diseases. These cholestatic phenotypes have been designated ‘overlap syndromes’. OBJECTIVES: To recognize the overlap syndromes in adults and manage them appropriately. METHODS: The MEDLINE database was reviewed for published experiences from 1984 to 2013. RESULTS: Patients with autoimmune hepatitis may exhibit features of primary biliary cirrhosis (7% to 13%), primary sclerosing cholangitis (6% to 11%) or a cholestatic syndrome without other diagnostic features (5% to 11%). These mixed phenotypes may represent classical autoimmune hepatitis with atypical features, transition states in the evolution of classical cholestatic syndromes, concurrent separate diseases or pathogenically distinct disorders. The ‘Paris criteria’ have been endorsed for the diagnosis of the overlap syndrome with primary biliary cirrhosis, and treatment with conventional immunosuppressive therapy alone or in combination with low-dose ursodeoxycholic acid can be guided by the serum alkaline phosphatase level. The overlap syndrome with primary sclerosing cholangitis or with cholestasis without diagnostic features is commonly treated with immunosuppressive therapy and ursodeoxycholic acid. Responses are variable and commonly incomplete (20% to 100% improvement) depending on the degree of cholestasis. DISCUSSION: The overlap syndromes are clinical descriptions rather than pathological entities, and the dominant component of the disease determines its designation and therapy. Cholestatic findings in autoimmune hepatitis influence the response to immunosuppressive therapy. CONCLUSION: The overlap syndromes must be considered in patients with autoimmune hepatitis and cholestatic findings, concurrent inflammatory bowel disease or steroid-refractory disease. PMID:23862175

  7. Defecographic diagnosis of the puborectalis syndrome; Diagnosi mediante defecografia della sindrome del muscolo puborettale

    Energy Technology Data Exchange (ETDEWEB)

    Salzano, Antonio; De Rosa, Aniello; De Luca, Luigi E.; Serpe, Alfredo; Losco, Matteo [Ospedale Loreto Mare, Naples (Italy). Servizio di Radiologia; Cavallo, Giovanni [Naples, II Univ. (Italy). Facolta` di Medicina

    1997-04-01

    The puborectalis syndrome is a defecation disorder supported by the nonrelaxation of puborectalis sling with consequent dyschezia. They report on a series of 98 patients submitted to clinical examination, defecography, anorectal manometry, electromyography and intestinal transit time studies. The main symptoms of puborectalis syndrome in their patients were incomplete defecation (89 %) and intermittent evacuation (63 %); 28 % of patients turned to finger defecation. In all patients, defecography showed an abnormal increase in puborectalis impression on the posterior anorectal wall, reduced anorectal angle opening under straining (mean value: 113 deg) and prolonged expulsion time with barium pooling in the ampulla (mean evacuation time: 38 seconds). Such anorectal abnormalities as rectal mucosal prolapse (47 cases) and anterior rectocele (36 cases) were also associated. In 33 of 98 patients (34 % of cases), sling assessment by bidigital palpation at preliminary clinical examination revealed puborectalis hypertonia, which was later confirmed at defecography. Manometry was not specific for the diagnosis of puborectalis syndrome, detecting increased external anal sphincter pressure under straining in 24 of 35 patients (68.8 %). Puborectalis activity was increased under straining in 16 subjects submitted to electromyography. Intestinal transit time studies showed a typical expulsion delay and radiopaque marker pooling in the ampulla in 18 of 23 patients (78.2 %). In their experience, defecography is a useful, simple and noninvasive method for the accurate diagnosis of the puborectalis syndrome.

  8. 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.

  9. Proteus syndrome: Clinical diagnosis of a series of cases

    Directory of Open Access Journals (Sweden)

    Cresio Alves

    2013-01-01

    Full Text Available Objectives: This paper describes the clinical diagnosis of Proteus syndrome (PS in children referred for evaluation of asymmetric disproportionate overgrowth. Materials and Methods: Retrospective, descriptive, cross-sectional study conducted from January 1998 to December 2010. Results: During the study period, 2011 new patients were evaluated. Thirteen (0.65% patients presented features suggestive of PS. These patients were formally evaluated based on the revised diagnostic criteria proposed by Biesecker. The mean age was 6.92 ± 5.1 years. Ten patients (76.9% were females. All subjects had asymmetric disproportionate overgrowth. Other dysmorphic features were as follows: macrodactily (84.6%; linear epidermal nevus (41.6%; hemangioma (30.7%; and lipoma (23%. Six patients fulfilled the diagnostic criteria for PS. Conclusions: The diagnostic rate of only 46.1% of patients with PS confirms the diagnostic difficulties and the need for continuous monitoring and periodic review of these patients since the clinical manifestations of this syndrome become more evident with aging. Molecular tests may help the differential diagnosis of Proteus syndrome when they became commercially available.

  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. Somatostatinoma syndrome: a challenging differential diagnosis among pancreatic tumors

    Directory of Open Access Journals (Sweden)

    Paula Martinez Vianna

    2013-03-01

    Full Text Available Among the neuroendocrine neoplasia, the pancreatic somatostatin-producing tumors are very rare. Usually functional, these tumors produce the somatostatinoma syndrome, which encompasses diabetes mellitus, diarrhea/steatorrhoea, and cholelithiasis. Other symptoms may include dyspepsia, weight loss, anemia, and hypochlorhydria. All theses symptoms are explained by the inhibitory actions of the somatostatin released by tumoral cells originated from pancreatic delta cells or endocrine cells of the digestive tract. The diagnosis is easy to overlook since these symptoms are commonly observed in other more common syndromes. Besides the clinical features, diagnosis is based on serum determination of somatostatin, and imaging exams, such as ultrasound, computer tomography and positron emission tomography. Pathologic examination is characterized by the positivity of immunohistochemical reaction for synaptophysin, chromogranin, and somatostatin. These tumors can be classified according to tumor size, mitotic index, neural or vascular invasion, and distant metastases. The authors describe the case of a 61-year-old female patient who sought medical care because of a 6-month history of watery diarrhea, weight loss, and depression. She was diagnosed with diabetes mellitus 3 years ago. Imaging examination revealed a tumoral mass of 4 cm in its longest axis in the topography of the head of the pancreas and calculous cholecistopathy. The patient’s clinical status was unfavorable for a surgical approach. She died after 20 days of hospitalization. The definitive diagnosis was achieved with the autopsy findings, which disclosed a pancreatic somatostatinoma.

  12. Diagnosis and treatment of polycystic ovarian syndrome and insulin resistance.

    Science.gov (United States)

    Fleischman, Amy; Mansfield, Joan

    2005-09-01

    PCOS is a complex syndrome that includes clinical and biochemical evidence of hyperandrogenism and hyperinsulinism. Adolescents with PCOS are affected by the diagnosis with both short-term and long-term consequences. Adolescents with PCOS report lower self-esteem and quality of life, based on standard assessments, when compared with age matched peers. These young women also are concerned about future fertility, which may affect psychological well being and health behaviors. In addition, patients with PCOS are at an increased risk for development of insulin resistance, type 2 diabetes, metabolic syndrome, and cardiovascular disease. Therefore, this identified at-risk group requires rigorous evaluation, treatment and long-term counseling and management by healthcare providers.

  13. 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.

  14. Lower leg pain. Diagnosis and treatment of compartment syndromes and other pain syndromes of the leg.

    Science.gov (United States)

    Touliopolous, S; Hershman, E B

    1999-03-01

    Leg pain in athletes has many aetiologies. The clinician must strive to specifically define the clinical problem in order to administer the appropriate treatment for the athlete's condition. Clinical conditions in the leg causing symptoms in athletes include chronic exertional compartment syndrome (CECC), tendinitis, medial tibial stress syndrome, stress fractures, fascial defects, musculotendinous junction disruptions (tennis leg), popliteal artery entrapment syndrome, effort-induced venous thrombosis and nerve entrapment. Appropriate diagnostic studies are needed to allow accurate diagnosis. A work-up might include radiographs, bone scans and compartment pressure measurement. Many of these conditions relate to overuse and training errors. Conservative measures including rest, activity modification and rehabilitation will permit a gradual return to participation in sports. Some problems such as CECC, popliteal artery entrapment syndrome and nerve entrapment may require surgical intervention to allow the resolution of symptoms. Clinicians should be familiar with the range of problems causing leg pain in order to prescribe specific treatment for each athlete.

  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. 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

  17. 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.

  18. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-02-15

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

  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

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    Asaranti Kar

    2016-01-01

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

  2. IMPORTANCE OF CLASSICAL MORPHOLOGY IN THE DIAGNOSIS OF MYELODYSPLASTIC SYNDROME

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    Rosangela Invernizzi

    2015-04-01

    Full Text Available Myelodysplastic syndromes (MDS are hematopoietic stem cell disorders characterized by dysplastic, ineffective, clonal and neoplastic hematopoiesis. MDS represent a complex hematological problem: differences in disease presentation, progression and outcome  have necessitated the use of classification systems to improve diagnosis, prognostication and treatment selection. However, since a single biological or genetic reliable diagnostic marker has not yet been discovered for MDS, quantitative and qualitative dysplastic morphological alterations of bone marrow precursors and of peripheral blood cells are still fundamental for diagnostic classification. In this paper World Health Organization (WHO classification refinements and current minimal diagnostic criteria proposed by expert panels are highlighted and related problematic issues are discussed. The recommendations should facilitate diagnostic and prognostic evaluations in MDS and selection of patients for new effective targeted therapies. Although in the future morphology should be supplemented with new molecular techniques, the morphological approach, at least for the moment, is still the cornerstone for the diagnosis and classification of these disorders.

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

    Science.gov (United States)

    Pereira, Daniela Cardoso; Bussamra, Luiz Claudio Silva; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes

    2013-01-01

    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. PMID:23653874

  5. 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

  6. A Review Article: Diagnosis and Treatment of Radial Tunnel Syndrome

    Directory of Open Access Journals (Sweden)

    Ebrahimzadeh Mohammad Hosein

    2015-04-01

    Full Text Available  Radial tunnel syndrome is a disease which we should consider it in elbow and forearm pains. It is diagnosed with lateral elbow and dorsal forearm pain may radiate to the wrist and dorsum of fingers. The disease is more prevalent in women with the age of 30 to 50 years old. It occurs by intermittent compression on the radial nerve from the radial head to the inferior border of the supinator muscle, without obvious extensor muscle weakness. Compression could happen in five different sites but the arcade of Frose is the most common area that radial nerve is compressed. To diagnosis radial tunnel syndrome, clinical examination is more important than paraclinic tests such as electrodiagnsic test and imaging studies. The exact site of the pain which can more specified by rule of nine test and weakness of the third finger and wrist extension are valuable physical exams to diagnosis. MRI studies my show u muscle edema or atrophy along the distribution of the posterior interosseous nerve. Although non-surgical treatments such as rest, NSAIDs, injections and physiotherapy do not believe to have permanent relief, but it is justify undergoing them before surgery. Surgery could diminish pain and symptoms in 67 to 93 percents of patients completely.

  7. [Differential diagnosis of Dandy-Walker syndrome different presentations].

    Science.gov (United States)

    Tobías-González, Pablo; Gil Mira, Mar; Valero de Bernabé, Javier; Zapardiel, Ignacio

    2012-08-01

    Dandy-Walker syndrome is a set of abnormalities of the posterior fossa including three modalities: classic Dandy-Walker malformation, Dandy-Walker variant and mega-cisterna magna. Our objective is clarify the differential diagnosis among these entities. Descriptive and retrospective study of Dandy-Walker cases diagnosed at our Department during the last five years plus a review of the related Medical literature. Three cases of Dandy-Walker modalities are reported: one case of classic Dandy-Walker malformation, one case of Dandy-Walker variant, and one case of false Dandy-Walker. In the first two cases the patients underwent legal abortion, whereas in the last one a healthy male newborn was delivered in the week 38 of gestation. Malformations in the posterior fossa, including Dandy-Walker syndrome, are still a challenge in prenatal diagnosis. Technical developments in imaging, such as in three-dimensional sonography and magnetic resonance, allow higher resolution and multiplanar images for an easier diagnose. There is a high rate of false positive, particularly before the 18th week of gestation. It is advisable not to establish a final diagnose before that week.

  8. Expression of tumor necrosis factor-alpha converting enzyme and matrix metalloproteinase-3 in proliferated synovium in a patient with synovitis-acne-pustulosis-hyperostosis-osteitis syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Komiya Koichiro

    2009-09-01

    Full Text Available Abstract Introduction Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO syndrome is a rare disorder. The etiology remains unknown and the treatment is still empirical. Synovitis is one of the major manifestations, but information on histopathological features is still lacking. In this case, we investigated the histopathological features of SAPHO syndrome synovitis. Case presentation We present the case of a 53-year-old Japanese woman with SAPHO syndrome accompanied by marked knee synovitis and palmoplantar pustulosis. We found abundant sterile joint fluid in the right knee, and a blood test showed abnormally high values of C-reactive protein (17.26 mg/dl and matrix metalloproteinase-3 (800 ng/ml. Arthroscopic surgery revealed marked proliferation of villous synovial tissues similar to rheumatoid arthritis and standard microscopic findings were also similar to rheumatoid arthritis. Furthermore, for the first time, we demonstrated by immunohistochemistry the expression of tumor necrosis factor-alpha (TNF-α converting enzyme, TNF-α and matrix metalloproteinase-3 in the proliferated synovial lining cells. After arthroscopic synovectomy, her knee symptoms immediately diminished and laboratory data (matrix metalloproteinase-3 and C-reactive protein normalized within 2 weeks of surgery. Conclusion We demonstrate the expression of TNF-α converting enzyme, TNF-α and matrix metalloproteinase-3 in SAPHO syndrome synovitis for the first time and also show, both macro- and microscopically, the similarity between SAPHO syndrome and rheumatoid arthritis synovitis. These new findings support the recently reported successful treatment of SAPHO syndrome with antirheumatic drugs, especially with anti-TNF-α agents.

  9. 'Munchausen syndrome': a forgotten diagnosis in the spine.

    Science.gov (United States)

    Padhye, Kedar Prashant; David, Kenny S; Dholakia, Saumil Y; Mathew, Vivek; Murugan, Yuvaraja

    2016-05-01

    To present the case of a patient with Munchausen's syndrome who underwent multiple surgeries in the spine before the diagnosis was made and, therefore, to highlight the importance of this obscure condition that can result in unnecessary surgical treatment. A 44-year-old businesswoman presented with multiple episodes of low back pain and weakness in both lower limbs over past 11 years. Past history consisted of multiple hospitalizations, and three surgeries on her lumbar spine at different hospitals, with dramatic improvement in symptoms being reported each time after surgery. Clinical examination showed inconsistent and nonspecific neurological findings. Imaging studies like X-rays, magnetic resonance imaging, and all neurophysiological studies were within normal limits. Multi-disciplinary evaluation by a team of orthopedicians, neurologist and psychiatrist and rehabilitation specialists diagnosed it as 'Munchausen syndrome'. Only one report of this fictitious disease in spine was found in review of literature (Association AP, Diagnostic and statistical manual of mental disorders: DSM-IV-TR(®), 2003). A history of multiple surgical interventions at multiple hospitals, often followed by dramatic improvement and then relapse, should trigger a suspicion of Munchausen syndrome, particularly in the scenario of normal imaging studies. Diagnosing this rare condition in spine is key to avoid unnecessary surgery.

  10. 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

  11. [Genetic cancer syndromes and reproductive choice: dialogue between parents and politicians on preimplantation genetic diagnosis

    NARCIS (Netherlands)

    Niermeijer, M.F.; Die-Smulders, C.E.M. de; Page-Christiaens, G.C.; Wert, G.M.W.R. de

    2008-01-01

    Genetic cancer syndromes have identical clinical severity, limited therapeutic options, reduced life expectancy, and risks of genetic transmission, as do other genetic or congenital diseases for which prenatal genetic diagnosis or preimplantation genetic diagnosis (PGD) is allowed in the

  12. Biologics for rare inflammatory diseases: TNF blockade in the SA PHO syndrome

    NARCIS (Netherlands)

    Burgemeister, L. T.; Baeten, D. L. P.; Tas, S. W.

    2012-01-01

    SAPHO is an invalidating syndrome characterised by Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis. The low prevalence and heterogeneous presentation often leads to a significant diagnostic delay. Here, we provide an up-to-date overview of current insights into the pathogenesis and different

  13. Diagnosis of Acute Respiratory Distress Syndrome in Nosocomial Pneumonia

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    A. N. Kuzovlev

    2009-01-01

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

  14. Work disability after diagnosis of hand-arm vibration syndrome.

    Science.gov (United States)

    Sauni, Riitta; Toivio, Pauliina; Pääkkönen, Rauno; Malmström, Jari; Uitti, Jukka

    2015-11-01

    Our aim was to study the course of vasospastic and sensorineural symptoms after the clinical diagnosis of hand-arm vibration syndrome (HAVS), and the association of current HAVS symptoms with occupational status, self-evaluation of health, quality of life, and work ability. We gathered all HAVS cases diagnosed at the Finnish Institute of Occupational Health in Helsinki and Tampere during 1990-2008. A questionnaire was sent to all these patients (n = 241). Altogether 149 of them (62 %) returned the questionnaire. Cumulative lifelong vibration exposure was evaluated on the basis of the data in the patient files. On average, 8.5 years after the diagnosis of HAVS, approximately one-third of the patients reported improvement in symptoms of vibration-induced white finger (VWF) and the sensorineural symptoms. Young age and shorter exposure time were associated with improvement in VWF symptoms (p = 0.033 and p quality of life (EQ-5D), and general health, also after adjusting for age, smoking, and diseases other than HAVS. The patients' own prediction of work ability in 2 years was more negative if the VWF symptoms or sensorineural symptoms had continued after diagnosis of HAVS (p = 0.065 and p = 0.001, respectively). Our results suggest that in about two-thirds of the patients, the HAVS symptoms may stabilize or deteriorate in the follow-up. Considering the effects on work ability, timely prevention measures should be taken more actively to help patients continue their working careers.

  15. Computer-Aided Methodology for Syndromic Strabismus Diagnosis.

    Science.gov (United States)

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

    2015-08-01

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

  16. Clinical predictors and differential diagnosis of posterior reversible encephalopathy syndrome.

    Science.gov (United States)

    Faille, Laetitia Della; Fieuws, S; Van Paesschen, W

    2017-06-01

    The aim of our study is to determine the clinical predictors and the differential diagnosis of posterior reversible encephalopathy syndrome (PRES) in patients presenting with acute neurological symptoms and risk factors for PRES. Using the diagnostic algorithm for PRES from Fugate and Rabinstein (Lancet Neurol 14(9):914-925, 1), we carried out a retrospective study on 220 patients, presenting with acute neurological symptoms such as seizures, encephalopathy, headache, visual disturbances or other focal neurological signs that appear in the clinical setting of risk factors such as hypertension/blood pressure fluctuations, chemotherapy, renal failure, autoimmune disorders, or eclampsia, in whom imaging of the brain was performed to exclude PRES. Seventeen percent of patients had a radiologically confirmed diagnosis of PRES. Univariable logistic regression showed a significant association between PRES and epileptic seizures, encephalopathy, hypertension, chemotherapy and renal failure. Multivariable logistic regression of acute neurological symptoms and risk factors showed a significant association of epileptic seizures, encephalopathy, visual disturbances, hypertension and chemotherapy with PRES. Using these variables to predict PRES yielded a discriminative ability (AUC) equal to 0.793. Diagnoses when PRES was not confirmed included primary or secondary headaches (26%), toxic-metabolic encephalopathy (21%), vascular pathology (12%) and other less frequent disorders. Epileptic seizures, encephalopathy, visual disturbances, hypertension, renal failure and chemotherapy were the best clinical predictors of PRES, while headache, immune suppression and autoimmune disease were not useful for the clinical diagnosis of PRES in our study.

  17. 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

  18. The postpolio syndrome--a critical comment to the diagnosis.

    Science.gov (United States)

    Aurlien, D; Strandjord, R E; Hegland, O

    1999-08-01

    The postpolio syndrome (PPS) is said to comprise symptoms which are characteristic of a specific disorder affecting former polio sufferers many years after their acute disease. Localized muscular weakening with or without attendant pain and atrophy are claimed to separate patients with PPS from persons with unspecific common symptoms from the musculoskeletal system. Therefore our objective was to evaluate the specificity of the symptoms of the PPS. Eighty-one former polio sufferers were, based on clinical examination and a questionnaire, compared with 116 gender and age matched controls. Significant differences between patients and controls of self-reported muscular weakening and pain in different locations were found. However, the level of similar complaints reported by the controls also was considerable. We question the validity of the diagnosis in cases without localized atrophy or other objective signs of denervation.

  19. A Case of Delayed Diagnosis of Kindler Syndrome

    Directory of Open Access Journals (Sweden)

    Ali Murat Ceyhan

    2012-09-01

    Full Text Available Kindler syndrome (KS is an autosomal recessive skin disorder characterized by traumatic acral blister formation in infancy and early childhood, progressive poikiloderma, cutaneous atrophy and increased photosensitivity. This rare genodermatosis represents combination of clinic features of hereditary epidermolysis bullosa and poikiloderma congenitale. Patients usually present with initial skin manifestations, i.e. traumatic acral bullous lesions, during the first year of life. In this period, it is difficult to make a differential diagnosis with dystrophic epidermolysis bullosa. KS is caused by loss-of-function mutations in a newly recognized protein, fermitin family homologue 1, encoded by the gene FERMT1, that plays crucial role in cell-matrix adhesion. To date, more than 100 cases have been described since the original report by Kindler in 1954. In this report, we described a female patient with 15-year history of progressive dysphagia who was first diagnosed as KS with associated cutaneous findings at the age of 32 years.

  20. [The diagnosis and treatment of quadrilateral space syndrome].

    Science.gov (United States)

    Kuang, Y; Hou, C L

    2001-07-01

    To investigate the compression feature, clinical manifestation and the results of treatment of quadrilateral space syndrome. Four patients with axillary nerve entrapment at quadrilateral space had been treated and followed up for 5 to 12 months from May 1999 to June 2000. The causes, symptoms, signs and the treatment management of those cases were analyzed. Among the 3 cases which received operation, sensation and motor function completely recovered in 2 cases and partially recovered in 1 case. No obvious recovery of sensation and motor function in the case which received local nerve blocking treatment. The main diagnostic evidence for axillary nerve entrapment is the deltoid muscle paralysis and paresthesia in the lateral side of shoulder, and early neurolysis is recommended as soon as the diagnosis is clarified.

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

    Directory of Open Access Journals (Sweden)

    Satish R Raj

    2006-04-01

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

  2. 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.

  3. Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis

    Directory of Open Access Journals (Sweden)

    Christine Zomer Dal Molin

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

  4. 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…

  5. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline

    OpenAIRE

    Brown, Rebecca J.; Araujo-Vilar, David; Cheung, Pik To; Dunger, David; Garg, Abhimanyu; Jack, Michelle; Mungai, Lucy; Oral, Elif A.; Patni, Nivedita; Rother, Kristina I.; von Schnurbein, Julia; Sorkina, Ekaterina; Stanley, Takara; Vigouroux, Corinne; Wabitsch, Martin

    2016-01-01

    Objective: Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis. Due to their rarity, most clinicians are not familiar with their diagnosis and management. This practice guideline summarizes the diagnosis and management of lipodystrophy syndromes not associated with HIV or injectable drugs. Participants: Seventeen participants were nominated by world...

  6. 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

  7. 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.

  8. Postsurgical Parsonage-Turner syndrome: a challenging diagnosis.

    Science.gov (United States)

    Verhasselt, Skrallan; Schelfaut, Sebastiaan; Bataillie, Filiep; Moke, Lieven

    2013-02-01

    Parsonage-Turner syndrome (PTS) is a distinct clinical syndrome, characterized by acute and severe (mostly) unilateral shoulder pain, followed by paresis and atrophy of the shoulder girdle, while the pain decreases. Most authors consider it as an immune-mediated disorder. PTS is notoriously unrecognised and is usually diagnosed with delay. A PTS may also occur following a surgical procedure. Postsurgical PTS is an under-recognised and challenging clinical entity, as illustrated in the case reported here of a 59-year-old man, 4 weeks after anterior discectomy and fusion C5C7. In such cases, the differential diagnosis must be made with a complication of surgery, such as postoperative C5 palsy due for instance to a migrated bone graft. Arguments for PTS are: a certain delay between surgery and symptoms, intolerable pain followed by weakness and improvement of pain complaints, divergent distribution of weakness, sensory deficit and pain, which may be confirmed by electrodiagnosis. Early recognition of postsurgical PTS may avoid unnecessary investigations or surgical exploration. It allows to treat the patient properly, leading to greater satisfaction of both surgeon and patient; pain management, physical therapy and reassurance are the cornerstones.

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

    Directory of Open Access Journals (Sweden)

    zohreh yousefiu

    2016-06-01

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

  10. 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.

  11. 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

  12. Ectopic Cushing syndrome secondary to metastatic medullary thyroid cancer in a child with multiple endocrine neoplasia syndrome type 2B: clues to early diagnosis of the paraneoplastic syndromes.

    Science.gov (United States)

    Singer, Kanakadurga; Heiniger, Nicholas; Thomas, Inas; Worden, Francis P; Menon, Ram K; Chen, Ming

    2014-09-01

    We describe a 13-year-old male with multiple endocrine neoplasia syndrome type 2B with medullary thyroid carcinoma who was diagnosed with ectopic adrenocorticotropin-dependent Cushing syndrome. This report highlights the importance of monitoring for paraneoplastic syndrome in MEN and clues to the diagnosis of this complication provided by growth patterns.

  13. Restless legs syndrome: differential diagnosis and management with rotigotine

    Directory of Open Access Journals (Sweden)

    Giovanni Merlino

    2009-01-01

    Full Text Available Giovanni Merlino1,3, Anna Serafini1, Francesca Robiony2, Mariarosaria Valente1,3, Gian Luigi Gigli1,31Sleep Disorder Center, Neurology and Clinical Neurophysiology; 2Pharmacy Unit, Santa Maria della Misericordia University Hospital, Udine, Italy; 3DPMSC, University of Udine, ItalyAbstract: RLS is a common sleep disorder with distinctive clinical features. The prevalence of RLS in Caucasians and North Americans ranges from 5% to 10%. However, only some of these subjects (almost the 3% of the general population report being affected by a frequent and severe form of the sleep disorder. RLS is diagnosed clinically by means of four internationally recognized criteria that summarize the main characteristics of the sleep disorder. Besides the essential criteria, supportive and associated features of RLS have been established by experts in order to help physicians treat patients with doubtful symptoms. Several clinical conditions may mimic this sleep disorder. In order to increase the sensibility and specificity of RLS diagnosis, doctors should perform a meticulous patient history and then an accurate physical and neurological examination. Dopamine agonists are recognized as the preferred first-line treatment for RLS. Rotigotine is a non-ergoline dopamine agonist with selectivity for D1, D2 and D3 receptors. The drug is administered via transdermal patches which release rotigotine for 24 hours. Four clinical trials demonstrated that this compound is able to improve RLS symptomatology with few and moderate adverse events. Head to head trials are required to compare the efficacy and tolerability of rotigotine with other dopamine agonists administered via oral intake. Rotigotine has been approved by the FDA and EMEA for Parkinson’s disease. For the treatment of moderate to severe idiopathic RLS, rotigotine has been recommended for approval by the EMEA and is under review by the FDA.Keywords: restless legs syndrome, diagnosis, differential diagnosis

  14. Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.

    Science.gov (United States)

    Lande, Asgeir; Kroken, Mette; Rabben, Kai; Retterstøl, Lars

    2018-01-01

    The two imprinting syndromes Temple syndrome (TS14) and Prader-Willi syndrome (PWS) share many features in infancy and childhood. TS14 is an important, yet often neglected, differential diagnosis to PWS. We wanted to assess the frequency of TS14 among patients tested for PWS. In all samples submitted to our lab for genetic PWS testing during 2014 and 2015, we consecutively conducted additional analyses for TS14. A total of 143 samples were included. The most frequent indications for testing were developmental delay, overweight, and hypotonia. For TS14 testing, we performed a methylation-sensitive MLPA-kit detecting deletions and methylation aberrations in chromosomal region 14q32. TS14 was confirmed in 3 out of 143 patients (2.1%). In comparison, PWS was also confirmed in three patients. Brief clinical descriptions of the TS14 patients are presented. Temple syndrome is presumably underdiagnosed, and should be considered when testing children for PWS. © 2017 Wiley Periodicals, Inc.

  15. 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.

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

    African Journals Online (AJOL)

    Tahir M. Malla

    2015-07-14

    Jul 14, 2015 ... comelia [2]. These two syndromes had varying phenotypic expression and were later concluded as the same entity because of resemblance of thalidomide embryopathy with Robert's syndrome and were therefore termed as Roberts SC pho- comelia syndrome [3]. The gene responsible for the syndrome.

  17. Cardiorenal Syndrome in Western Countries: Epidemiology, Diagnosis and Management Approaches.

    Science.gov (United States)

    Ronco, Claudio; Di Lullo, Luca

    2017-01-01

    It is well established that a large number of hospitalized patients present various degrees of heart and kidney dysfunction; primary disease of the heart or kidney often involves dysfunction or injury to the other. Based on above-cited organ cross-talk, the term cardiorenal syndrome (CRS) was proposed. Although CRS was usually referred to as abruption of kidney function following heart injury, it is now clearly established that it can describe negative effects of an impaired renal function on the heart and circulation. The historical lack of clear syndrome definition and complexity of diseases contributed to a waste of precious time especially concerning diagnosis and therapeutic strategies. The effective classification of CRS proposed in a Consensus Conference by the Acute Dialysis Quality Group essentially divides CRS into two main groups, cardiorenal and renocardiac CRS, on the basis of primum movens of disease (cardiac or renal); both cardiorenal and renocardiac CRS are then divided into acute and chronic according to disease onset. Type 5 CRS integrates all cardiorenal involvement induced by systemic disease. Prevalence and incidence data show a widespread increase of CRS also due to an increasing incidence of acute and chronic cardiovascular disease, such as acute decompensated heart failure, arterial hypertension and valvular heart disease. Patients with chronic kidney disease present various degrees of cardiovascular involvement especially due to chronic inflammatory status, volume and pressure overload and secondary hyperparathyroidism leading to a higher incidence of calcific heart disease. The following review will focus on the main aspects (epidemiology, risk factors, diagnostic tools and protocols, therapeutic approaches) of CRS in Western countries (Europe and United States).

  18. [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.

  19. 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

  20. [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.

  1. Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.

    Science.gov (United States)

    Cleaver, J E; Volpe, J P; Charles, W C; Thomas, G H

    1994-10-01

    In a study of fetal cells from a series of 12 pregnancies in ten families at risk for the ultraviolet light-sensitive, DNA repair-deficient diseases xeroderma pigmentosum (XP) and Cockayne syndrome (CS), we detected one XP and two CS homozygote fetuses. The diagnoses were confirmed by analysis of fetal skin fibroblasts or second amniotic samples after termination of the pregnancies. The measurement of ultraviolet light sensitivity and DNA repair depended on properties common to the seven excision repair-deficient XP complementation groups (A-G) and the two CS complementation groups (A, B). No XP variant families were included in the study, because the variant requires different testing techniques. Reliable and rapid diagnosis proved possible in all but one of the 12 pregnancies, supporting the use of these methods until the spectrum of mutations in the various XP and CS genes of the U.S. population is fully characterized and a DNA sequence-based diagnostic procedure becomes available.

  2. Diagnosis and Challenges of Polycystic Ovary Syndrome in Adolescence

    Science.gov (United States)

    Agapova, Sophia E.; Cameo, Tamara; Sopher, Aviva B.; Oberfield, Sharon E.

    2015-01-01

    Although the diagnostic criteria for polycystic ovary syndrome (PCOS) have become less stringent over the years, determination of the minimum diagnostic features in adolescents is still an area of controversy. Of particular concern is that many of the features considered to be diagnostic for PCOS may evolve over time and change during the first few years after menarche. Nonetheless, attempts to define young women who may be at risk for development of PCOS is pertinent since associated morbidity such as obesity, insulin resistance, and dyslipidemia may benefit from early intervention. The relative utility of diagnostic tools such as persistence of anovulatory cycles, hyperandrogenemia, hyperandrogenism (hirsutism, acne, or alopecia), or ovarian findings on ultrasound is not established in adolescents. Some suggest that even using the strictest criteria, the diagnosis of PCOS may not valid in adolescents younger than 18 years. In addition, evidence does not necessarily support that lack of treatment of PCOS in younger adolescents will result in untoward outcomes since features consistent with PCOS often resolve with time. The presented data will help determine if it is possible to establish firm criteria which may be used to reliably diagnose PCOS in adolescents. PMID:24715514

  3. Diagnosis and Management of Nephrotic Syndrome in Adults.

    Science.gov (United States)

    Kodner, Charles

    2016-03-15

    Nephrotic syndrome (NS) consists of peripheral edema, heavy proteinuria, and hypoalbuminemia, often with hyperlipidemia. Patients typically present with edema and fatigue, without evidence of heart failure or severe liver disease. The diagnosis of NS is based on typical clinical features with confirmation of heavy proteinuria and hypoalbuminemia. The patient history and selected diagnostic studies rule out important secondary causes, including diabetes mellitus, systemic lupus erythematosus, and medication adverse effects. Most cases of NS are considered idiopathic or primary; membranous nephropathy and focal segmental glomerulosclerosis are the most common histologic subtypes of primary NS in adults. Important complications of NS include venous thrombosis and hyperlipidemia; other potential complications include infection and acute kidney injury. Spontaneous acute kidney injury from NS is rare but can occur as a result of the underlying medical problem. Despite a lack of evidence-based guidelines, treatment consisting of sodium restriction, fluid restriction, loop diuretics, angiotensin-converting enzyme inhibitor or angiotensin receptor blocker therapy, and careful assessment for possible disease complications is appropriate for most patients. Renal biopsy is often recommended, although it may be most useful in patients with suspected underlying systemic lupus erythematosus or other renal disorders, in whom biopsy can guide management and prognosis. Immunosuppressive treatment, including corticosteroids, is often used for NS, although evidence is lacking. Routine prophylactic treatment to prevent infection or thrombosis is not recommended. A nephrologist should be consulted about use of anticoagulation and immunosuppressants, need for renal biopsy, and for other areas of uncertainty.

  4. [Sleep apnea-hypopnea syndrome. Concept, diagnosis and medical treatment].

    Science.gov (United States)

    Eguía, V M; Cascante, J A

    2007-01-01

    The sleep apnea-hypopnea syndrome (SAHS) is characterised by daytime sleepiness, cardiorespiratory and cognitive disorders, secondary to repeated episodes of obstruction of the upper airway during sleep. This disease is highly prevalent in the general population and has damaging effects on the cardiovascular system; it increases the incidence of traffic accidents due to excessive somnolence, reduces the quality of life and is associated with an excess of mortality. It usually affects obese patients and the most important symptoms are snoring and repeated respiratory pauses. With each apnea and/or hypopnea there is a fall in saturation that alters the nocturnal average and ends up causing serious cardiovascular problems in the medium to long term. The destructuring of the architecture of sleep leads to daytime sleepiness that can interfere in social and working life. Diagnosis is carried out by means of polysomnography or respiratory poligraphy, an abbreviated method that is valid for 75% of cases. The most efficient medical treatment is the application of positive pressure to the airway (Continuous positive airway pressure - CPAP) that has scarce and light secondary effects and is in general well-tolerated. Once adapted, the patient must carry out an adjustment of the pressure through polysomnography and with the autoCPAP, which can vary pressure until the respiratory events are corrected. Primary care has an essential role to play in suspicion of the clinical symptoms, the correct utilisation of the referral criteria and the control of patients receiving treatment once adapted.

  5. 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.

  6. Scalp hair cortisol for diagnosis of Cushing's syndrome.

    Science.gov (United States)

    Wester, Vincent L; Reincke, Martin; Koper, Jan W; van den Akker, Erica L T; Manenschijn, Laura; Berr, Christina M; Fazel, Julia; de Rijke, Yolanda B; Feelders, Richard A; van Rossum, Elisabeth F C

    2017-06-01

    Current first-line screening tests for Cushing's syndrome (CS) only measure time-point or short-term cortisol. Hair cortisol content (HCC) offers a non-invasive way to measure long-term cortisol exposure over several months of time. We aimed to evaluate HCC as a screening tool for CS. Case-control study in two academic referral centers for CS. Between 2009 and 2016, we collected scalp hair from patients suspected of CS and healthy controls. HCC was measured using ELISA. HCC was available in 43 confirmed CS patients, 35 patients in whom the diagnosis CS was rejected during diagnostic work-up and follow-up (patient controls), and 174 healthy controls. Additionally, we created HCC timelines in two patients with ectopic CS. CS patients had higher HCC than patient controls and healthy controls (geometric mean 106.9 vs 12.7 and 8.4 pg/mg respectively, P  cortisol ( r  = 0.691, P  cortisol was increased 3 and 6 months before CS became clinically apparent. Analysis of cortisol in a single scalp hair sample offers diagnostic accuracy for CS similar to currently used first-line tests, and can be used to investigate cortisol exposure in CS patients months to years back in time, enabling the estimation of disease onset. © 2017 European Society of Endocrinology.

  7. Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome

    Directory of Open Access Journals (Sweden)

    umesh chandra parashari

    2012-02-01

    Full Text Available Mucopolysaccharidosis (MPS comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides metabolism. Types of MPS identified are MPS I-H (Hurler's syndrome, gargoylism, MPS II (Hunter's syndrome, MPS III (Sanfilippo's syndrome, MPS IV (Morquio-Brailsford syndrome, MPS I-S (Scheie's syndrome and MPS VI (Maroteaux-Lamy syndrome. The Hunter type is inherited as an X-linked recessive; the others are autosomal recessive. Patients with MPS IV can usually be clinically distinguished from patients with other forms of MPS; their intelligence is unimpaired, in contrast with other forms of MPS. Husler coined the term dysostosis multiplex to describe the skeletal findings.

  8. 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...

  9. Compartment Syndrome of the Hand: A Little Thought about Diagnosis

    Science.gov (United States)

    Reichman, Eric F.

    2016-01-01

    Compartment syndrome of the forearm is a well described entity but there have been relatively few case reports in the emergency medicine literature of hand compartment syndromes (HCS). Prompt recognition and treatment of this potential limb threat are essential to minimize morbidity and mortality. Presented is a case of a documented hand compartment syndrome following a motor vehicle collision. PMID:27293917

  10. Case for diagnosis: (Ectodermal dysplasia: Christ-Siemens-Touraine syndrome).

    Science.gov (United States)

    Succi, Isabella Brasil; Fontenelle, Elisa

    2009-01-01

    Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. The prominent forehead, saddle nose, thick lower lip and pointy chin produce a distinctive facies. The full syndrome only occurs in men as it is an X-linked recessive condition.

  11. 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.

  12. 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.

  13. Cotard's syndrome and delayed diagnosis in Kashmir, India

    OpenAIRE

    Wani, Zaid A; Khan, Abdul W; Baba, Aijaz A; Khan, Hayat A; Wani, Qurat-ul Ain; Taploo, Rayeesa

    2008-01-01

    Abstract Cotard's syndrome is a rare syndrome, characterized by the presence of nihilistic delusions. The syndrome is typically related to depression and is mostly found in middle-aged or older people. A few cases have been reported in young people with 90% of these being females. We present a case of a young pregnant woman suffering from Cotard's syndrome. This is the first report of this syndrome in a pregnant woman. The case was diagnosed late, due to lack of awareness of psychiatric probl...

  14. Functional somatic syndromes: sensitivities and specificities of self-reports of physician diagnosis.

    Science.gov (United States)

    Warren, John W; Clauw, Daniel J

    2012-01-01

    Functional somatic syndromes have no laboratory or pathologic abnormalities and so are diagnosed by symptom-based case definitions. However, many studies, including recent ones, have used self-reports of physician diagnosis rather than the case definitions. Our objective was to determine the sensitivities and specificities of self-report of physician diagnosis for chronic fatigue syndrome (CFS), fibromyalgia (FM), irritable bowel syndrome (IBS), panic disorder, and migraine. Each of 312 female patients with incident interstitial cystitis/bladder pain syndrome and matched population-based controls were queried on self-report of physician diagnosis and separately on established case definitions for each of these syndromes. Using the symptom-based case definitions as standards, we found that self-report of physician diagnosis did not identify 90% of the controls who had CFS, 77% who had FM, 69% who had IBS, 43% who had panic disorder, and 23% who had migraine. In addition, it missed most individuals with multiple syndromes. Findings in one cohort (controls) were confirmed in another (patients with interstitial cystitis/bladder pain syndrome). Self-report of physician diagnosis did not identify most of the three most venerable functional somatic syndromes, IBS, FM, and, especially, CFS; nor did it identify substantial minorities of individuals with panic disorder and migraine. Self-report of physician diagnosis was particularly poor in recognizing persons with multiple syndromes. The insensitivity of this diagnostic test has effects on not only prevalence and incidence estimates but also correlates, comorbidities, and case recruitment. To reveal individuals with these syndromes, singly or together, queries of symptoms, not diagnoses, are necessary.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1995-04-15

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

  16. Medial plica syndrome of the knee: diagnosis with dynamic sonography.

    Science.gov (United States)

    Paczesny, Lukasz; Kruczynski, Jacek

    2009-05-01

    To perform a feasibility study of dynamic sonography for the diagnosis of medial plica syndrome of the knee. The study design was approved by the university bioethics board, and all the participants gave informed consent. Inclusion criteria were a palpable medial band, history of painful aching, and giving way or locking, which limited the subject's activity for at least 6 months. Exclusion criteria were a history of trauma with hemarthrosis, previous knee surgery, and arthrosis detectable on radiographs. A prospective evaluation in 88 subjects (56 female subjects, 32 male subjects; mean age, 20 years; range, 7-47 years) who were suspected of having a medial plica and 91 knees was performed. Three sonographic criteria were assessed during patellar movement by using a 12-MHz 38-mm linear transducer: (a) continuous echo sliding over the medial femoral condyle during medial and lateral movement of the patella, (b) entry of the echo under the patella during medial movement of the patella, and (c) pain or discomfort during dynamic sonography. Arthroscopy was the reference standard. An asymptomatic control group consisting of 32 volunteers (mean age, 28 years; range, 10-52 years) and 60 knees was also assessed. Arthroscopy revealed 68 plicae with pathologic findings, 61 of which met all three sonographic criteria. Medial plicae with pathologic findings were absent in 23 knees; 19 plicae were correctly diagnosed by using sonography. Diagnostic accuracy was 88%, sensitivity was 90%, and specificity was 83%. In the asymptomatic control group, there were 37 knees without a plica echo, 16 knees with a plica echo that met one criterion, and seven knees that met two criteria. Dynamic sonography allows detection of abnormalities of medial plicae in the knee, with good sensitivity and specificity.

  17. Ramsay Hunt syndrome presenting as “a window'' to HIV diagnosis ...

    African Journals Online (AJOL)

    The diagnosis of Ramsay Hunt syndrome, gives a window of opportunity to investigate for HIV. Here we report our first case of Ramsay Hunt syndrome as a presenting feature of HIV disease in an apparently healthy looking 48 year old black African female who was unaware of her HIV status at the time of presentation.

  18. 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.

  19. 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.

  20. Cotard's syndrome and delayed diagnosis in Kashmir, India

    Science.gov (United States)

    Wani, Zaid A; Khan, Abdul W; Baba, Aijaz A; Khan, Hayat A; Wani, Qurat-ul Ain; Taploo, Rayeesa

    2008-01-01

    Cotard's syndrome is a rare syndrome, characterized by the presence of nihilistic delusions. The syndrome is typically related to depression and is mostly found in middle-aged or older people. A few cases have been reported in young people with 90% of these being females. We present a case of a young pregnant woman suffering from Cotard's syndrome. This is the first report of this syndrome in a pregnant woman. The case was diagnosed late, due to lack of awareness of psychiatric problems in primary care physicians resulting in undue suffering, loss of precious time and resources for the patient. Besides highlighting the rare combination of pregnancy and Cotard's syndrome this report delineates the difficulties faced by patients with such symptoms in a low resource setting. PMID:18271948

  1. Cotard's syndrome and delayed diagnosis in Kashmir, India

    Directory of Open Access Journals (Sweden)

    Wani Qurat-ul

    2008-01-01

    Full Text Available Abstract Cotard's syndrome is a rare syndrome, characterized by the presence of nihilistic delusions. The syndrome is typically related to depression and is mostly found in middle-aged or older people. A few cases have been reported in young people with 90% of these being females. We present a case of a young pregnant woman suffering from Cotard's syndrome. This is the first report of this syndrome in a pregnant woman. The case was diagnosed late, due to lack of awareness of psychiatric problems in primary care physicians resulting in undue suffering, loss of precious time and resources for the patient. Besides highlighting the rare combination of pregnancy and Cotard's syndrome this report delineates the difficulties faced by patients with such symptoms in a low resource setting.

  2. Cotard's syndrome and delayed diagnosis in Kashmir, India.

    Science.gov (United States)

    Wani, Zaid A; Khan, Abdul W; Baba, Aijaz A; Khan, Hayat A; Wani, Qurat-ul Ain; Taploo, Rayeesa

    2008-01-11

    Cotard's syndrome is a rare syndrome, characterized by the presence of nihilistic delusions. The syndrome is typically related to depression and is mostly found in middle-aged or older people. A few cases have been reported in young people with 90% of these being females. We present a case of a young pregnant woman suffering from Cotard's syndrome. This is the first report of this syndrome in a pregnant woman. The case was diagnosed late, due to lack of awareness of psychiatric problems in primary care physicians resulting in undue suffering, loss of precious time and resources for the patient. Besides highlighting the rare combination of pregnancy and Cotard's syndrome this report delineates the difficulties faced by patients with such symptoms in a low resource setting.

  3. Piriformis Syndrome in Fibromyalgia: Clinical Diagnosis and Successful Treatment

    OpenAIRE

    Md Abu Bakar Siddiq; Moshiur Rahman Khasru; Rasker, Johannes J.

    2014-01-01

    Piriformis syndrome is an underdiagnosed extraspinal association of sciatica. Patients usually complain of deep seated gluteal pain. In severe cases the clinical features of piriformis syndrome are primarily due to spasm of the piriformis muscle and irritation of the underlying sciatic nerve but this mysterious clinical scenario is also described in lumbar spinal canal stenosis, leg length discrepancy, piriformis myofascial pain syndrome, following vaginal delivery, and anomalous piriformis m...

  4. 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

  5. Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening.

    Science.gov (United States)

    Mills, Anne M; Longacre, Teri A

    2016-06-01

    Lynch syndrome is responsible for approximately 5% of endometrial cancers and 1% of ovarian cancers. The molecular basis for Lynch syndrome is a heritable functional deficiency in the DNA mismatch repair system, typically due to a germline mutation. This review discusses the rationales and relative merits of current Lynch syndrome screening tests for endometrial and ovarian cancers and provides pathologists with an informed algorithmic approach to Lynch syndrome testing in gynecologic cancers. Pitfalls in test interpretation and strategies to resolve discordant test results are presented. The potential role for next-generation sequencing panels in future screening efforts is discussed. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. [Prenatal diagnosis of a case with combined Wolf-Hirschhorn syndrome and Jacobsen syndrome].

    Science.gov (United States)

    Dong, Yanling; Hu, Huamei; Hu, Hua; Zhang, Rong; Hu, Bin; Long, Yang; Xu, Gang; Yao, Hong

    2015-08-01

    To detect chromosomal imbalance in a fetus with complex congenital heart disease, and to correlate the genotype with the phenotype. Routine G-banding was carried out to analyze the karyotypes of the fetus and its parents, and single nucleotide polymorphisms array (SNP-array) was used for delineating fine genomic aberrations. The detected aberrations were confirmed with multiplex ligation-dependent probe amplification (MLPA). The fetus and its parents all showed a normal karyotype, while array-SNP has detected a 13.87 Mb duplication at 4p16.3-p15.33 and a 15.65 Mb deletion at 11q23.3-q25 in the fetus. The results were confirmed by the MLPA assay. The partial trisomy 4p (Wolf-Hirschhorn syndrome) and partial monosomy 11q (Jacobsen syndrome) probably underlie the complex heart defects detected in the fetus. Analysis of the karyotypes of its parents offered no help for the determination of the aberrant type and recurrent risk. Compared with routine karyotype analysis, aberrant regions can be identified with array-SNP with greater resolution and accuracy. This has provided useful information for prenatal diagnosis and genetic counseling.

  7. Scimitar Syndrome in an Asymptomatic Adult: Fortuitous Diagnosis by Imaging Technique

    Directory of Open Access Journals (Sweden)

    Miguel Angel Ramirez-Marrero

    2012-01-01

    Full Text Available Congenital cardiopathies in adults are a rare clinical entity in the cardiology consultations. Advances in imaging techniques allow the fortuitous diagnosis of mild forms of these congenital abnormalities. We describe a case of an asymptomatic 41-year-old man, with a medical history of recurrent pneumonia during childhood and an established diagnosis of scimitar syndrome by computed tomography.

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

    Directory of Open Access Journals (Sweden)

    Stefan Todorov

    2012-11-01

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

  9. Parkinsonian syndroms: Clinical phenotype, differential diagnosis and disease progression; Parkinson-Syndrome: Klinische Symptomatik, Differenzialdiagnose und Verlauf

    Energy Technology Data Exchange (ETDEWEB)

    Storch, A. [Klinik fuer Neurologie, Univ. Ulm (Germany)

    2002-09-01

    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.) [German] Parkinson-Syndrome koennen im Rahmen des idiopathischen Parkinson-Syndroms (IPS; auch Morbus Parkinson), anderer neurodegenerativer Erkrankungen, den so genannten atypischen Parkinson-Syndromen, und der symptomatischen Parkinson-Syndrome vorkommen. Das IPS ist dabei mit ca. 80% aller Parkinson-Syndrome die haeufigste Ursache. Neurodegenerative atypische Parkinson-Syndrome sind die wichtigsten Differenzialdiagnosen des idiopathischen Parkinson-Syndroms. Die beiden haeufigsten Formen sind die Multisystematrophie (MSA) und die progressive supranukleaere Blickparese (PSP). Die meisten Parkinson-Syndrome lassen sich anhand klinischer Kriterien und morphologischer Bildgebung bereits differenzialdiagnostisch einordnen. Klinisch-pathologische Studien haben

  10. Guideline for diagnosis and treatment of subacromial pain syndrome

    NARCIS (Netherlands)

    Diercks, Ronald; Bron, Carel; Dorrestijn, Oscar; Meskers, Carel; Naber, René; de Ruiter, Tjerk; Willems, Jaap; Winters, Jan; van der Woude, Henk Jan

    Treatment of "subacromial impingement syndrome" of the shoulder has changed drastically in the past decade. The anatomical explanation as "impingement" of the rotator cuff is not sufficient to cover the pathology. "Subacromial pain syndrome", SAPS, describes the condition better. A working group

  11. 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 ...

  12. Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome.

    Science.gov (United States)

    Fehr, Stephanie; Bebbington, Ami; Ellaway, Carolyn; Rowe, Peter; Leonard, Helen; Downs, Jenny

    2011-08-01

    The early developmental history prior to the manifestation of Rett syndrome features is of clinical interest. This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. The Australian Rett Syndrome Database and International Rett Syndrome Phenotype Database were used to source a total of 293 confirmed female subjects. Most girls learned to sit, were able to babble or use words, and approximately half learned to walk. Altered milestone attainment was associated with earlier diagnosis. There was variation in the acquisition of milestones, the age of regression, and the age of diagnosis by genotype. Most parents expressed concerns about unusual behaviors or development during infancy, and a more subtle atypical development during infancy was reported for most girls. It is important for clinicians to be aware of variable early development in Rett syndrome and that timely genetic testing is not precluded on this account.

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

    OpenAIRE

    Diego Alvarez-Estevez; Vicente Moret-Bonillo

    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 ...

  14. Prenatal diagnosis of hypoplastic left heart syndrome in current era.

    Science.gov (United States)

    Kipps, Alaina K; Feuille, Colin; Azakie, Anthony; Hoffman, Julien I E; Tabbutt, Sarah; Brook, Michael M; Moon-Grady, Anita J

    2011-08-01

    We sought to evaluate the relation of a prenatal diagnosis (preDx) with morbidity and mortality during the initial hospitalization in a contemporary cohort of patients with hypoplastic left heart syndrome (HLHS). A retrospective study of patients with HLHS presenting from 1999 to 2010 was performed. Patients with genetic disorders or a gestational age <34 weeks or who had intentionally received comfort care only were excluded. Of the 81 patients meeting the study criteria, 49 had a preDx and 32 were diagnosed postnatally (postDx). Birth weight (median 3.0 vs 3.4 kg; p = 0.007) and gestational age (median 38 vs 39 weeks; p <0.001) were lower in the preDx than in the postDx patients. Preoperatively, the postDx patients were intubated more frequently (97% vs 71%, p = 0.004) and ventilated longer (median 96 vs 24 hours, p = 0.005) than the preDx patients. They also had more preoperative acidosis, multiorgan failure, tricuspid valve regurgitation, and right ventricular dysfunction. Of the 73 patients undergoing surgery, no difference in survival was seen between the preDx and postDx groups (91% vs 89%). The median duration of postoperative ventilation was 7 days and the median length of stay was 36 days for the 66 survivors, with no difference between the 2 groups. Postoperative morbidities, including chylothorax and infection, were also similar in the preDx and postDx patients. No studied preoperative factor was associated with death, duration of postoperative ventilation, or length of stay. In conclusion, our recent experience has shown that preDx of HLHS was not associated with a survival advantage, fewer postoperative complications, or shorter length of stay. Improved preoperative status was observed in the preDx patients; however, they were born earlier with a lower birthweight. What effect these factors might have on longer term morbidity remains unknown. Copyright © 2011 Elsevier Inc. All rights reserved.

  15. 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.

  16. Sudden infant death syndrome: methodological and patogenetical types of diagnosis

    Directory of Open Access Journals (Sweden)

    B.I. Glukhovets

    2011-01-01

    Full Text Available The review presents an analysis of literature data on pathogenesis of sudden infant death syndrome (SIDS in comparison with author’s experience of infants dead in home. Diagnostic significance of qualified autopsy examinations in analysis of infants’ death is shown. Frequent combination of morphogenetic cardiopathy and early signs of atrial myocarditis can be estimated as pathogenetic basis of SIDS.Key words: sudden infant death syndrome, morphogenetic cardiopathy, atrial myocarditis.

  17. [Prevalence and Comorbidity of Self-Reported Diagnosis of Burnout Syndrome in the General Population].

    Science.gov (United States)

    Maske, Ulrike E; Riedel-Heller, Steffi G; Seiffert, Ingeburg; Jacobi, Frank; Hapke, Ulfert

    2016-01-01

    To determine the prevalence and comorbid mental disorders of self-reported diagnosis of burnout syndrome in the general population of Germany. In the German Health Interview and Examination Survey (DEGS1) self-reported diagnosis of a burnout syndrome made by a physician or psychotherapist was assessed in a standardized interview (N = 7987). For N = 4483 mental disorders were determined with the Composite International Diagnostic Interview (CIDI). Weighted lifetime and 12-month prevalences were calculated. Lifetime prevalence of diagnosed burnout syndrome was 4.2 % (women 5.2 %, men 3.3 %), 12-month prevalence was 1.5 % (women 1.9 %, men 1.1 %). Highest prevalences were found in 40 - 59 year olds, in people with middle and high socio economic status and in women with low and men with high social support. Among the 12-month cases, 70.9 % had at least one DSM-IV disorder. Associations were found for the diagnosis of burnout syndrome with somatoform, affective and anxiety disorders. The diagnosis of burnout syndrome is less frequently given and reported than expected. People with a burnout diagnosis often have a manifest mental disorder. © Georg Thieme Verlag KG Stuttgart · New York.

  18. 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.

  19. Diagnosis of compartment syndrome using a microwave-based detector

    Science.gov (United States)

    Ling, Geoffrey S. F.; Riechers, Ronald G., Sr.; Pasala, Krishna M.; Blanchard, Jeremy; Rosner, Michael; Jarell, Abel; Yun, Catherine; Garcia-Pinto, Patricia; Song, Ki-Il; Day, Keith; Riechers, Ronald G., Jr.; Zeidman, Seth M.; Rhee, Peter; Ecklund, James M.; Fitzpatrick, Thomas; Lockhart, Stephen

    2002-07-01

    A novel method for identifying compartment syndrome is presented. This method is based on a novel device that uses electromagnetic waves in the microwave radio frequency (RF) region and a modified algorithm previously used for the estimation of the angle of arrival of radar signals. In this study, we employ this radio frequency triage tool (RAFT) to the clinical condition of compartment syndrome, which is a clinical condition where blood or edema in the muscle compartment of the leg leads to critical sichemia of that exptremity. In anesthetized pigs, RAFT, can detect changes in the RF signature from a leg is due to 2cc or greater of either blood or slaine (a surrogate of edema). These results are compared to clinical examination. RAFT is superior to clinical examination in its ability to detect compartment syndrome in pgis.

  20. 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.

  1. Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

    Directory of Open Access Journals (Sweden)

    Tahir M. Malla

    2016-01-01

    Full Text Available There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature (sister chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes.

  2. Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Aydin Canpolat

    2014-01-01

    Full Text Available Chiari malformation Type I (CM-I related to syndromic craniosynostosis in pediatric patients has been well-studied. The surgical management consists of cranial vault remodeling with or without posterior fossa decompression. There were also cases, in whom CM-I was diagnosed prior to the craniosynostosis in early childhood. We present a 16-year-old boy who admitted with symptoms related to CM-I. With careful examination and further genetic investigations, a diagnosis of Crouzon syndrome was made, of which the patient and his family was unaware before. The patient underwent surgery for posterior fossa decompression and followed-up for Crouzon′s syndrome. To our knowledge, this is the only case report indicating a late adolescent diagnosis of Crouzon syndrome through clinical symptoms of an associated CM-I.

  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. Overlap syndromes of autoimmune hepatitis: diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    O. Aguilar-Nájera

    2015-04-01

    Whether overlap syndromes are distinct entities or the presence of 2 concurrent diseases is still a subject of debate. They should be suspected in autoimmune hepatitis patients that present with signs of cholestasis, as it is known that overlap behavior tends to be more aggressive, with higher rates of cirrhosis and the need for liver transplantation. Treatment response is also poorer and should be directed at the predominant component. Standardized definitions are necessary so that these syndromes can be studied in controlled clinical trials.

  5. 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.

  6. SonoCAD: a software to solve the dilemma of the prenatal diagnosis of fetal syndromes.

    Science.gov (United States)

    Abdelnaby, Mahmoud; Fawzi, Abdulmeneam; Swelem, Manal; Elgammal, Hisham; Elgammal, Hamdy

    2017-08-01

    The aim of this work is to develop an efficient, user-friendly, time-saving computer software program specified with prenatal diagnosis, based solely on ultrasound findings provided by the sonographer. Sonographyic computer-assisted diagnosis (SonoCAD) program was developed in four phases. Phase I: data gathering phase. Phase II: the software development phase in which the source code of the software was developed. Phase III: system testing phase that was divided into two steps: alpha testing phase, in which 20 syndromic scenarios were supplied to the software and the beta testing phase, in which the performance of SonoCAD was compared with the performance of the already established web site phenotip.com launched in 2014. Phase IV: the refining phase. In 92% of the syndromes provided, SonoCAD was capable of providing the correct diagnosis, while only in 53.3% of the syndromes phenotip.com was capable of providing the correct diagnosis. Sonographyic computer-assisted diagnosis is an efficient, properly functioning, time-saving software that could be utilized by all who are involved in prenatal diagnosis. SonoCAD was found to be more efficient and more accurate in generating a correct diagnosis when compared with the already available website phenotip.com having the same functionality. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  7. 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

  8. Carpal tunnel syndrome – Part I (anatomy, physiology, etiology and diagnosis)☆☆☆

    Science.gov (United States)

    Chammas, Michel; Boretto, Jorge; Burmann, Lauren Marquardt; Ramos, Renato Matta; dos Santos Neto, Francisco Carlos; Silva, Jefferson Braga

    2014-01-01

    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. Electroneuromyographic examination may be recommended before the operation or in cases of occupational illnesses. PMID:26229841

  9. [A modified Calgary syncope syndrome score in the differential diagnosis between cardiac syncope and vasovagal syncope].

    Science.gov (United States)

    Jin, Hong-fang; Yang, Jin-yan; Li, Xue-ying; Zhu, Lu-lu; Han, Ling; Zhang, Feng-wen; Chen, Li; Du, Jun-bao; Zhang, Qing-you

    2012-02-01

    This study aimed at analyzing the usefulness of a modified Calgary Syncope Syndrome Score in the differential diagnosis between cardiac syncope (CS) and vasovagal syncope (VVS) in children through a large sample clinical study. Totally 189 children [112 males, 77 females, aged 2 - 18 yrs, mean age (12.4 ± 3.1) yrs] with CS and VVS who were at the syncope clinic or admitted to the Department of Pediatrics, Peking University First Hospital from August 2002 to April 2011 were included in the study. The diagnosis was analyzed by a modified Calgary Syncope Syndrome Score and receiver operating characteristic (ROC) curve was used to explore the predictive value of different Calgary Syncope Syndrome Scores in differential diagnosis between CS and VVS. There were significant differences in the score between CS [-5.00(-7, 1)] and VVS [1(-4, 6)] (P Syndrome Score was integer number, CS should be considered when the score was less than -3. The modified Calgary Syncope Syndrome Score might be used as an initial diagnostic method in differential diagnosis between CS and VVS, based on the history of the patients.

  10. 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

  11. Overlap syndromes of autoimmune hepatitis: diagnosis and treatment.

    Science.gov (United States)

    Aguilar-Nájera, O; Velasco-Zamora, J A; Torre, A

    2015-01-01

    Some patients with autoimmune liver disease have characteristics of cholestasis, as well as of autoimmune hepatitis. Despite the fact that this is a relatively frequent clinical condition seen in referral centers for liver diseases, there is little evidence as regards the clinical management of these syndromes due to their low prevalence and the lack of standardized definitions and diagnostic criteria. This is relevant, given that published studies report that there is a lower therapeutic response and poorer outcome in patients with overlap syndrome than in those presenting solely with autoimmune hepatitis. Whether overlap syndromes are distinct entities or the presence of 2 concurrent diseases is still a subject of debate. They should be suspected in autoimmune hepatitis patients that present with signs of cholestasis, as it is known that overlap behavior tends to be more aggressive, with higher rates of cirrhosis and the need for liver transplantation. Treatment response is also poorer and should be directed at the predominant component. Standardized definitions are necessary so that these syndromes can be studied in controlled clinical trials. Copyright © 2015 Asociación Mexicana de Gastroenterología. Published by Masson Doyma México S.A. All rights reserved.

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

    African Journals Online (AJOL)

    Tahir M. Malla

    2015-07-14

    Jul 14, 2015 ... of diagnoses in dysmorphology by approximately 15%. However, metaphase anomalies like PCS/HR and PSCS can- not be detected by techniques like array studies and therefore milder forms of syndromes like those of Roberts SC pho- comelia may remain undetected. We therefore conclude from.

  13. Biochemical and genetic diagnosis of Smith-Lemli- Opitz syndrome ...

    African Journals Online (AJOL)

    Background. The Smith-Lemli-Opitz syndrome (SLOS), due to defective function of 7-dehydrocholesterol reductase, is an autosomal recessive disorder that is more common than other defects in cholesterol biosynthesis. The dysmorphology can be suggestive, but biochemical and genetic investigations are required for ...

  14. Traditional Chinese medicine in diagnosis and treatment of fibromyalgia syndrome.

    Science.gov (United States)

    Aliyev, R; Vieth, T; Geiger, G

    2010-11-01

    Fibromyalgia Syndrome (FS) is known for the difficulties arising from classification. The accompanying pain in skeletal muscles, myofascial peri-articular structures and a number of polymorphic symptoms cannot be separated into complexes of symptoms. The application of principles of Traditional Chinese Medicine (TCM) helps in analyzing the symptoms of FS to detect a leading syndrome and thereby establish an individual therapy. Medical histories and objective examinations of 25 patients with FS and 22 patients with vertebrogenic pain syndromes were analyzed according to TCM. A questionnaire was used to determine the leading constitutional type according to the 5-elements-theory. Analyses of the results showed that 83% of patients with FS were of constitutional type of the element earth. The following syndromes were found to be important in FS: 1) liver-Qi-stagnation, 2) Yin and blood deficiency of the liver, 3) Yang-weakness of the spleen and kidney, 4) Yin-weakness of the kidney. Applying TCM for FS allows for separating a group of symptoms and thus individual therapy. The determination of the constitutional type according to the 5-elements-theory may be used for a better understanding of the disharmony pattern.

  15. Natural history and early diagnosis of LAD-1/variant syndrome

    NARCIS (Netherlands)

    Kuijpers, Taco W.; van Bruggen, Robin; Kamerbeek, Nanne; Tool, Anton T. J.; Hicsonmez, Gonul; Gurgey, Aytemiz; Karow, Axel; Verhoeven, Arthur J.; Seeger, Karl; Sanal, Ozden; Niemeyer, Charlotte; Roos, Dirk

    2007-01-01

    The syndrome of leukocyte adhesion deficiency (LAD) combined with a severe Glanzmann-type bleeding disorder has been recognized as a separate disease entity. The variability in clinical and cell biological terms has remained largely unclear. We present data on 9 cases from 7 unrelated families, with

  16. Atlantoaxial instability in Marfans syndrome. Diagnosis and treatment

    Energy Technology Data Exchange (ETDEWEB)

    Levander, B.; Mellstroem, A.; Grepe, A.

    1981-02-01

    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.

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

    African Journals Online (AJOL)

    2018-02-07

    Feb 7, 2018 ... body on clinical examination. In addition, there were no extraoral or intraoral findings such as swelling, stiffness, or evidence of facial asymmetry related to the lesions. [Figure 2b] and he did not complain of any symptoms. Case Report. INTRODUCTION. Gardner syndrome (GS) is a rare genetic disorder.

  18. Diagnosis and management of Crigler-Najjar syndrome

    NARCIS (Netherlands)

    Jansen, PLM

    1999-01-01

    Crigler-Najjar syndrome (CNS) results from a mutation in one of the five exons of the gene coding for the enzyme bilirubin-UDP-glucuronosyltransferase by exon 1*1 and exons 2-5 of the UDP-glucuronosyltransferase 1 locus, the bilirubin glucuronidating isoform of UDP-glucuronosyltransferase. CNS type

  19. 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 ...

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

    NARCIS (Netherlands)

    Winters, Marinus

    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

  1. Diagnosis and management of complex regional pain syndrome complicating upper extremity recovery.

    Science.gov (United States)

    Li, Zhongyu; Smith, Beth Paterson; Smith, Thomas L; Koman, L Andrew

    2005-01-01

    Complex regional pain syndrome (CRPS) is a clinical syndrome of pain, autonomic dysfunction, trophic changes, and functional impairment. CRPS is common after hand trauma or surgery. Early diagnosis and intervention is critical for adequate recovery. The diagnosis of CRPS requires a careful history, physical examination, and supporting diagnostic testing. Optimal treatment requires a multidisciplinary approach. A large spectrum of pharmacologic interventions is efficacious in treating CRPS. Surgery may be used to relieve nociceptive foci. Patient-specific hand therapy is very important in reducing swelling, decreasing pain, and improving range of motion.

  2. 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.

  3. Sonographic diagnosis of Obstructed Hemivagina and Ipsilateral Renal Anomaly Syndrome: a report of two cases.

    Science.gov (United States)

    Mishra, Neetika; Ng, Stanley

    2014-11-01

    Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare urogenital anomaly. Patients typically present at puberty, shortly after menarche with increasing pelvic pain, dysmenorrhea and pelvic mass. There may be a known history of unilateral renal agenesis. Diagnosis can usually be established by ultrasound or magnetic resonance imaging. Resection of the vaginal septum is the treatment of choice. Early diagnosis and treatment can relieve symptoms, prevent complications and preserve fertility. We present two cases of OHVIRA syndrome diagnosed by ultrasound to promote recognition of this rare but important condition.

  4. 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

  5. Compartment syndrome: diagnosis, management, and unique concerns in the twenty-first century.

    Science.gov (United States)

    Garner, Matthew R; Taylor, Samuel A; Gausden, Elizabeth; Lyden, John P

    2014-07-01

    Compartment syndrome is an elevation of intracompartmental pressure to a level that impairs circulation. While the most common etiology is trauma, other less common etiologies such as burns, emboli, and iatrogenic injuries can be equally troublesome and challenging to diagnose. The sequelae of a delayed diagnosis of compartment syndrome may be devastating. All care providers must understand the etiologies, high-risk situation, and the urgency of intervention. This study was conducted to perform a comprehensive review of compartment syndrome discussing etiologies, risk stratification, clinical progression, noninvasive and invasive monitoring, documentation, medical-legal implication, and our step-by-step approach to compartment syndrome prevention, detection, and early intervention. A literature search was performed using the PubMed Database and the following search terms: "Compartment syndrome AND Extremity," "Compartment syndrome AND Gluteal," and Compartment syndrome AND Paraspinal." A total of 2,068 articles were identified. Filters allowed for the exclusion of studies not printed in English (359) and those focusing on exertional compartment syndrome (84), leaving a total of 1,625 articles available for review. The literature provides details regarding the etiologies, risk stratification, clinical progression, noninvasive and invasive monitoring, documentation, medical-legal implication, and our step-by-step approach to compartment syndrome prevention, detection, and early intervention. The development and progression of compartment syndrome is multifactorial, and as complexity of care increases, the opportunity for the syndrome to be missed is increased. Recent changes in the structure of in-hospital medical care including resident work hour restrictions and the incorporation of midlevel providers have increased the frequency of "signouts" or "patient handoffs" which present opportunities for the syndrome to be mismanaged. The changing dynamics of the health

  6. Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in association with a single umbilical artery.

    Science.gov (United States)

    Hamada, H; Fujiki, Y; Obata-Yasuoka, M; Watanabe, H; Yamada, N; Kubo, T

    2001-01-01

    Beckwith-Wiedemann syndrome is an inherited disorder most commonly characterized by prenatal or postnatal overgrowth, macroglossia, omphalocele, unusual earlobe creases, and increased risk of neoplasia. Several reported cases of this syndrome have been prenatally diagnosed, but no report has described the occurrence of this syndrome in association with a single umbilical artery. We report a case in which prenatal sonographic examination demonstrated fetal overgrowth, macroglossia, and omphalocele together with a single umbilical artery; our prenatal diagnosis of Beckwith-Wiedemann syndrome was confirmed after birth of the infant. The possibility of this syndrome should be considered when performing a detailed sonographic examination of a fetus with a single umbilical artery. Copyright 2001 John Wiley & Sons, Inc.

  7. Dumping syndrome after esophageal, gastric or bariatric surgery: pathophysiology, diagnosis, and management.

    Science.gov (United States)

    van Beek, A P; Emous, M; Laville, M; Tack, J

    2017-01-01

    Dumping syndrome, a common complication of esophageal, gastric or bariatric surgery, includes early and late dumping symptoms. Early dumping occurs within 1 h after eating, when rapid emptying of food into the small intestine triggers rapid fluid shifts into the intestinal lumen and release of gastrointestinal hormones, resulting in gastrointestinal and vasomotor symptoms. Late dumping occurs 1-3 h after carbohydrate ingestion, caused by an incretin-driven hyperinsulinemic response resulting in hypoglycemia. Clinical recommendations are needed for the diagnosis and management of dumping syndrome. A systematic literature review was performed through February 2016. Evidence-based medicine was used to develop diagnostic and management strategies for dumping syndrome. Dumping syndrome should be suspected based on concurrent presentation of multiple suggestive symptoms after upper abdominal surgery. Suspected dumping syndrome can be confirmed using symptom-based questionnaires, glycemia measurements and oral glucose tolerance tests. First-line management of dumping syndrome involves dietary modification, as well as acarbose treatment for persistent hypoglycemia. If these approaches are unsuccessful, somatostatin analogues should be considered in patients with dumping syndrome and impaired quality of life. Surgical re-intervention or continuous enteral feeding may be necessary for treatment-refractory dumping syndrome, but outcomes are variable. Implementation of these diagnostic and treatment recommendations may improve dumping syndrome management. © 2016 The Authors. Obesity Reviews published by John Wiley & Sons Ltd on behalf of World Obesity Federation.

  8. 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. 

  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. PMID:22606524

  10. 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.

  11. Ultrasound-Guided Quadrilateral Space Block for the Diagnosis of Quadrilateral Syndrome

    OpenAIRE

    Hamilton Chen; Vincent Reginald Narvaez

    2015-01-01

    Quadrilateral space syndrome (QSS) is a rare nerve entrapment disorder that occurs when the axillary nerve and posterior circumflex humeral artery (PCHA) become compressed in the quadrilateral space. QSS presents as vague posterolateral shoulder pain that is exacerbated upon the abduction and external rotation of the shoulder. Diagnosis of QSS is difficult because of the vague presentation of QSS. In addition, even though MRI and MR angiography can be used in QSS diagnosis, there is currently...

  12. Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies

    Directory of Open Access Journals (Sweden)

    Ru Li

    2014-12-01

    Conclusion: This study is the first to report the prenatal diagnosis of a 17q12 duplication syndrome. Our results further confirmed that genes in this region, including HNF1B and LHX1, are essential for normal brain and kidney development, and also indicated some genes that may be associated with the cardiovascular abnormality. Combined with imaging examination, the use of CMA will improve the diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital anomalies.

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

    OpenAIRE

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

    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, p...

  14. [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.

  15. Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.

    Science.gov (United States)

    Lenarduzzi, S; Vozzi, D; Morgan, A; Rubinato, E; D'Eustacchio, A; Osland, T M; Rossi, C; Graziano, C; Castorina, P; Ambrosetti, U; Morgutti, M; Girotto, G

    2015-02-01

    Usher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, sensorineural hearing loss and, in some cases, vestibular dysfunction. The disorder is clinically and genetically heterogeneous and, to date, mutations in 11 genes have been described. This finding makes difficult to get a precise molecular diagnosis and offer patients accurate genetic counselling. To overcome this problem and to increase our knowledge of the molecular basis of Usher syndrome, we designed a targeted resequencing custom panel. In a first validation step a series of 16 Italian patients with known molecular diagnosis were analysed and 31 out of 32 alleles were detected (97% of accuracy). After this step, 31 patients without a molecular diagnosis were enrolled in the study. Three out of them with an uncertain Usher diagnosis were excluded. One causative allele was detected in 24 out 28 patients (86%) while the presence of both causative alleles characterized 19 patients out 28 (68%). Sixteen novel and 27 known alleles were found in the following genes: USH2A (50%), MYO7A (7%), CDH23 (11%), PCDH15 (7%) and USH1G (2%). Overall, on the 44 patients the protocol was able to characterize 74 alleles out of 88 (84%). These results suggest that our panel is an effective approach for the genetic diagnosis of Usher syndrome leading to: 1) an accurate molecular diagnosis, 2) better genetic counselling, 3) more precise molecular epidemiology data fundamental for future interventional plans. Copyright © 2014 Elsevier B.V. All rights reserved.

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

    OpenAIRE

    Asaranti Kar; Ipsita Dhal; Neha Madurwar; Shyama Kanungo

    2016-01-01

    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 congenita...

  17. Prenatal Sonographic Diagnosis of Hypoplastic Left Heart Syndrome

    OpenAIRE

    Sadineni, Raghu Teja; Kumar, B Santh; Chander, NB; Boppana, Durga Mahita

    2017-01-01

    Hypoplastic left heart syndrome (HLHS) represents a variety of cardiac malformations that may result from errors in the early stages of cardiac development. HLHS includes a wide spectrum of cardiac malformations including hypoplasia of the left ventricle, ascending aorta, hypoplasia, or atresia of the aortic and mitral valves. Over the recent years, the improved resolution of advanced equipment with awareness and increased performance of second-trimester ultrasound examinations for the assess...

  18. [Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies].

    Science.gov (United States)

    Banghová, K; Al, Taji E; Novotná, D; Zapletalová, J; Hníková, O; Cáp, J; Klabochová, J; Kúseková, M; Lebl, J

    2008-01-01

    Pendred syndrome (OMIM274600) is one of the causes of congenital hypothyroidism due to thyroid dyshormonogenesis. It is an autosomal recessive disease classically characterized by dyshormonogenetic goitre and sensorineural deafness. It is caused by mutations in PDS/SLC26A4 gene encoding for pendrin--an anion transporter, mostly expressed in the thyroid gland and the inner ear. The thyroid impairment in Pendred syndrome develops only in 80% of affected individuals in form of a euthyroid or hypothyroid goitre, which is rarely present at birth, when it can be diagnosed by the neonatal screening for congenital hypothyroidism. The study was aimed to identify patients with Pendred syndrome among children with congenital or postnatal non-autoimmune hypothyroidism and subsequently confirm the diagnosis by finding mutations in the PDS/SLC26A4 gene. We examined two-hundred thirty-six Caucasians with hypothyroidism diagnosed by screening or developing later in childhood. The clinical diagnosis of Pendred syndrome was based on the laboratory and ultrasonographic signs of thyroid dyshormonogenesis (elevated TSH, low T4/fT4, goitre or normal thyroid volume) in association with sensorineural hearing loss. In subjects clinically diagnosed as Pendred syndrome, we sequenced all 21 exons of the PDS/SLC26A4 gene and their flanking intron-exon junctions. Among 236 children, nine fulfilled the diagnostic criteria of Pendred syndrome. In four, the diagnosis was confirmed by identification of mutations in the PDS/SLC26A4 gene, the remaining five patients were concluded phenocopies. Our study confirms the high phenotypic variability of thyroid impairment in Pendred syndrome and underlines the necessity of a molecular-genetic investigation for establishing the diagnosis in regard of the great number of phenocopies. However, from the endocrinologist's point of view, the genetic testing is only reasonable in patients with congenital hypothyroidism due to dyshormonogenesis in association with

  19. A Critical Evaluation of the Down Syndrome Diagnosis for LB1, Type Specimen of Homo floresiensis.

    Directory of Open Access Journals (Sweden)

    Karen L Baab

    Full Text Available The Liang Bua hominins from Flores, Indonesia, have been the subject of intense scrutiny and debate since their initial description and classification in 2004. These remains have been assigned to a new species, Homo floresiensis, with the partial skeleton LB1 as the type specimen. The Liang Bua hominins are notable for their short stature, small endocranial volume, and many features that appear phylogenetically primitive relative to modern humans, despite their late Pleistocene age. Recently, some workers suggested that the remains represent members of a small-bodied island population of modern Austro-Melanesian humans, with LB1 exhibiting clinical signs of Down syndrome. Many classic Down syndrome signs are soft tissue features that could not be assessed in skeletal remains. Moreover, a definitive diagnosis of Down syndrome can only be made by genetic analysis as the phenotypes associated with Down syndrome are variable. Most features that contribute to the Down syndrome phenotype are not restricted to Down syndrome but are seen in other chromosomal disorders and in the general population. Nevertheless, we re-evaluated the presence of those phenotypic features used to support this classification by comparing LB1 to samples of modern humans diagnosed with Down syndrome and euploid modern humans using comparative morphometric analyses. We present new data regarding neurocranial, brain, and symphyseal shape in Down syndrome, additional estimates of stature for LB1, and analyses of inter- and intralimb proportions. The presence of cranial sinuses is addressed using CT images of LB1. We found minimal congruence between the LB1 phenotype and clinical descriptions of Down syndrome. We present important differences between the phenotypes of LB1 and individuals with Down syndrome, and quantitative data that characterize LB1 as an outlier compared with Down syndrome and non-Down syndrome groups. Homo floresiensis remains a phenotypically unique, valid

  20. A Critical Evaluation of the Down Syndrome Diagnosis for LB1, Type Specimen of Homo floresiensis.

    Science.gov (United States)

    Baab, Karen L; Brown, Peter; Falk, Dean; Richtsmeier, Joan T; Hildebolt, Charles F; Smith, Kirk; Jungers, William

    2016-01-01

    The Liang Bua hominins from Flores, Indonesia, have been the subject of intense scrutiny and debate since their initial description and classification in 2004. These remains have been assigned to a new species, Homo floresiensis, with the partial skeleton LB1 as the type specimen. The Liang Bua hominins are notable for their short stature, small endocranial volume, and many features that appear phylogenetically primitive relative to modern humans, despite their late Pleistocene age. Recently, some workers suggested that the remains represent members of a small-bodied island population of modern Austro-Melanesian humans, with LB1 exhibiting clinical signs of Down syndrome. Many classic Down syndrome signs are soft tissue features that could not be assessed in skeletal remains. Moreover, a definitive diagnosis of Down syndrome can only be made by genetic analysis as the phenotypes associated with Down syndrome are variable. Most features that contribute to the Down syndrome phenotype are not restricted to Down syndrome but are seen in other chromosomal disorders and in the general population. Nevertheless, we re-evaluated the presence of those phenotypic features used to support this classification by comparing LB1 to samples of modern humans diagnosed with Down syndrome and euploid modern humans using comparative morphometric analyses. We present new data regarding neurocranial, brain, and symphyseal shape in Down syndrome, additional estimates of stature for LB1, and analyses of inter- and intralimb proportions. The presence of cranial sinuses is addressed using CT images of LB1. We found minimal congruence between the LB1 phenotype and clinical descriptions of Down syndrome. We present important differences between the phenotypes of LB1 and individuals with Down syndrome, and quantitative data that characterize LB1 as an outlier compared with Down syndrome and non-Down syndrome groups. Homo floresiensis remains a phenotypically unique, valid species with its roots

  1. [Current comprehensive diagnosis of pancreatobiliary cancer complicated by jaundice syndrome].

    Science.gov (United States)

    Kharchenko, V P; Liutfaliev, T A; Kunda, M A

    2000-01-01

    The study was undertaken to enhance the efficiency of diagnosis of pancreatobiliary cancer complicated by jaundice by using the potentialities of currently available instrumental studies at most. The data of examination of 256 patients with this disease are presented. Based on diagnostic findings, the authors have constructed a diagnostic model of precision recognition of cancer of the extrahepatic bile ducts, pancreatic head, Vater's papilla.

  2. 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.

  3. Does ultrasonography contribute significantly to the diagnosis of carpal tunnel syndrome?

    Science.gov (United States)

    Zyluk, A; Walaszek, I; Szlosser, Z

    2014-02-01

    Recent studies have demonstrated ultrasonography as a valuable tool for confirming the diagnosis of carpal tunnel syndrome. The objective of this study was to investigate sonographic parameters of the median nerve in patients diagnosed clinically with carpal tunnel syndrome. 185 wrists in 185 patients, 149 women (81%) and 36 men (19%), with a mean age of 59 years, with the clinical diagnosis of carpal tunnel syndrome were examined sonographically. We measured cross-sectional area (CSA) of the median nerve at the forearm and at the carpal tunnel inlet, as well as the height (a-p dimension) of the nerve at the tunnel inlet and in the narrowest site in the carpal tunnel. Moreover, in all patients the severity of the disease was assessed by the Levine questionnaire. A significant variability of sonographic data characterizing the median nerve was found: the mean CSA at the tunnel inlet was 17.6 mm2 (range: 7-36) and height of the nerve at the tunnel inlet was a mean of 2.7 mm (range: 1.3-4.5). No correlation was found between sonographic data and severity of the syndrome as expressed by the Levine scores. Sonography of the median nerve contributes little to the diagnosis of a clinically relevant carpal tunnel syndrome and its routine use is not justified. © Georg Thieme Verlag KG Stuttgart · New York.

  4. [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.

  5. The Acute Compartment Syndrome of the Lower Leg: A Difficult Diagnosis?

    NARCIS (Netherlands)

    J. Vlot; M.G. Eversdijk (Martin); D. den Hartog (Dennis); P.P. Oprel (Pim); W.E. Tuinebreijer (Wim)

    2010-01-01

    textabstractThree patients, two adults and one child, developed an acute compartment syndrome of the lower leg. Due to delay in diagnosis, severe complications developed, resulting in two transfemoral amputations. In the youngest patient, the lower leg was able to be saved after extensive

  6. 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.

  7. 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…

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

    African Journals Online (AJOL)

    Blood Service (SANBS) cytogenetic laboratory in Pinetown, KZN, were perused for postnatal chromosomal blood tests for clinically. Delay and poor diagnosis of Down syndrome in. KwaZulu-Natal, South Africa: A retrospective review of postnatal cytogenetic testing. M Willoughby,1 MB ChB, DCH (SA); C Aldous,2 PhD; ...

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

    African Journals Online (AJOL)

    the epidemiological profile of this syndrome in KwaZulu-Natal. Province (KZN). Before the 1980s ... 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 ...

  10. 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

  11. Biomarkers for the diagnosis of acute coronary syndrome : studies in primary care

    NARCIS (Netherlands)

    Bruins Slot, M.H.E.

    2010-01-01

    The research described in this thesis focuses on the potential value of early cardiac biomarkers in the diagnosis of acute coronary syndrome (ACS) in the primary care setting, with special attention for point-of-care tests. The design and results of a large diagnostic study on the value of a bedside

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1984-07-01

    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. 3 figs.

  13. Recent advances in the diagnosis of Cushing’s syndrome in dogs

    NARCIS (Netherlands)

    Kooistra, H.S.|info:eu-repo/dai/nl/205285864; Galac, S.|info:eu-repo/dai/nl/304830860

    2010-01-01

    Vet Clin North Am Small Anim Pract. 2010 Mar;40(2):259-67. Recent advances in the diagnosis of Cushing's syndrome in dogs. Kooistra HS, Galac S. Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Yalelaan 108, 3584 CM Utrecht, The Netherlands.

  14. Lambert-Eaton Myasthenic Syndrome; Pathogenesis, Diagnosis, and Therapy

    Directory of Open Access Journals (Sweden)

    Nils Erik Gilhus

    2011-01-01

    Full Text Available Lambert-Eaton Myasthenic Syndrome (LEMS is a rare disease with a well-characterized pathogenesis. In 50% of the patients, LEMS is a paraneoplastic manifestation and caused by a small cell lung carcinoma (SCLC. Both LEMS patients with SCLC and those without this tumour have in 85% of cases pathogenetic antibodies of very high LEMS specificity against voltage-gated calcium channels (VGCCs in the cell membrane of the presynaptic motor nerve terminal. Better understanding of LEMS pathogenesis has lead to targeted symptomatic therapy aimed at the neuromuscular junction and to semispecific immuno-suppression. For SCLC LEMS, tumour therapy is essential.

  15. 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.

  16. [Rett's syndrome--differential diagnosis of autism in a case report].

    Science.gov (United States)

    Bujas-Petković, Z; Matijasić, R; Divcić, B

    1989-12-01

    In this paper, a rare neurological disorder seen exclusively in girls is described. According to its progress and clinical behaviour, a syndrome resembles autism. The disease was reported in 1966 by A. Rett from Vienna. The syndrome often remains unrecognized because of its low incidence or is mistaken for autism, mental retardation and cerebral paralysis. The table of differential diagnosis of this disease in relation to autism is given. We report on a 5-year-old girl from Zrenjanin who was admitted to the Division for Autism, Psychiatric Hospital Jankomir, Zagreb. The diagnosis of Rett's syndrome was established in this patient whose initial description documented autism. The medications have shown to be without effect, except anticonvulsive drugs and ketogenic diet. Physical, occupational and musical therapy as well as hydrotherapy were applied.

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

    Energy Technology Data Exchange (ETDEWEB)

    Yesildag, A. E-mail: ahmetysd@hotmail.com; Kutluhan, S.; Sengul, N.; Koyuncuoglu, H.R.; Oyar, O.; Guler, K.; Gulsoy, U.K

    2004-10-01

    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{sup 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.

  18. Resident physicians' competencies and attitudes in delivering a postnatal diagnosis of Down syndrome.

    Science.gov (United States)

    Ferguson, James E; Kleinert, Harold L; Lunney, Carol A; Campbell, Lynn R

    2006-10-01

    This study responded to the need expressed by physicians and parents alike for improved medical information and support to families upon the initial diagnosis of Down syndrome at birth. The purpose was to assess obstetrics and gynecology and pediatrics residents' cognitive knowledge about Down syndrome and comfort in counseling parents with a newborn child with Down syndrome before and after intervention (resident viewing and interaction with the educational material). A team of physicians, parents, and educational specialists developed an interactive CD-ROM that asked resident physicians to read and view virtual patient-doctor sessions, and provide their own responses to critical situations related to Down syndrome diagnoses. The research tested both knowledge and attitude change, as well as the effectiveness of an interactive CD-ROM as a pedagogical tool. Our effectiveness study yielded positive and significant improvement in knowledge and level of comfort changes with both obstetrics and gynecology and pediatric physicians in residence at the University of Kentucky. Residents also found the technologically based interactive type of instruction to be usable and valuable. Teaching physicians to impart accurate and balanced information about Down syndrome at the initial point of diagnosis can be achieved, in part, through training with the CD-ROM. From a broader perspective, this effectiveness study suggests the potential applications of these communication strategies not only to families who have a child with Down syndrome, but also to those with other life-altering disabilities. II-3.

  19. 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.

  20. SLEEP APNEA/HIPOPNEA SYNDROME (SAHS: HOME DIAGNOSIS AND TREATMENT

    Directory of Open Access Journals (Sweden)

    Coma del Corral MJ

    2006-02-01

    Full Text Available SUMMARYRecent studies associate SAHS with higher cardiovascular morbidity-mortality and we know that even today SAHS continues to be under-diagnosed. This under-diagnosis, signifies, on the one hand, a lowering or loss of health, and on the other, an increase in costs, since it has been demonstrated that patients with undiagnosed or untreated SAHS are higher consumers of health service resources and have higher work absenteeism, while these costs are reduced in SAHS patients treated with CPAP. Therefore, we find ourselves faced with the need to diagnose and suitably treat the largest possible number of patients who suffer from SAHS.The diagnostic method of choice continues to be supervised nocturnal PSG in the sleep laboratory, however, the future of SAHS diagnosis is inevitably moving towards the use of simplified systems with a high sensitivity and specificity. In this sense, the Respiratory Polygraphy represents an alternative tool for the diagnosis of SAHS, being able to be carried out in the home of the patient, just like the Auto-CPAP systems. Thus, the current approach to SAHS has changed and therefore, a patient with a high probability of suffering from SAHS, is able to have a RP carried out at home which might diagnose SAHS and later to have the CPAP adjusted to the optimum pressure level, as a recording using Auto-CPAP, could be carried out at home.With this new approach to SAHS, waiting lists could be reduced and thus reduce the under-diagnosis. All this brings about an implicit saving of resources. The place of diagnosis will basically be the home, and in this sense, the development of telematic applications will contribute significantly to the modification of diagnostic strategies.The success of this form of approach to SAHS, will be established with a suitable selection of subsidiary diagnosed patients and adjustment of home treatment, therefore, each sleep unit must set up its own diagnostic-therapeutic strategy which may be more

  1. 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

  2. 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.

  3. 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.

  4. [The place of neuropathy in the early diagnosis of Cockayne syndrome: Report on two siblings].

    Science.gov (United States)

    Blin-Rochemaure, N; Allani-Essid, N; Carlier, R; Laugel, V; Quijano-Roy, S

    2017-04-01

    Two siblings affected with Cockayne syndrome (CS) are described: this diagnosis was suggested by the finding of a demyelinating neuropathy on electromyography in both children and consistent clinical features. CS is a rare genetic disorder with severe prognosis and a highly varied phenotype, making early diagnosis difficult. Taking into account these two cases and the literature, the current diagnosis criteria are insufficiently specific and appear late: the diagnosis may be delayed because multi-organ involvement and sensorial impairment suggests more frequent neurometabolic disorders. Neuroradiologic abnormalities are suggestive but may occur later. The finding of a demyelinating peripheral neuropathy seems to be a more useful marker to suspect this disorder in the presence of other clinical features. Further studies are required to better define the chronology of the symptoms, not only for adequate genetic counseling and eventual prenatal diagnosis, but also to assess the efficacy of future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  5. [Maternal uniparental disomy 14; differential diagnosis with Prader-Willi syndrome].

    Science.gov (United States)

    Tamminga, Saskia; Stalman, Susanne E; Kamp, Gerdine A; Hendriks, Yvonne M C; Knegt, A C Lia; Elting, M W Mariet

    2015-01-01

    Maternal uniparental disomy 14 is a rare genetic disorder in which both chromosomes 14 are maternally inherited. The disorder is characterised by neonatal hypotonia and feeding difficulties, intrauterine or later growth retardation, truncal obesity and precocious puberty. During the neonatal period its clinical phenotype shows great similarities with that of Prader-Willi syndrome. We describe two patients with dysmaturity, neonatal hypotonia and feeding difficulties who initially showed clinical signs of Prader-Willi syndrome. However, molecular testing for this disorder was normal. Some years later, additional molecular testing confirmed the diagnosis of maternal uniparental disomy 14. Maternal uniparental disomy 14 shows many phenotypic similarities with Prader-Willi syndrome. In a hypotonic neonate, molecular testing for maternal uniparental disomy 14 should therefore be considered if Prader-Willi syndrome has been excluded.

  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. [Alcohol withdrawal syndrome and delirium tremens. Diagnosis and therapy].

    Science.gov (United States)

    Zilker, T

    1999-08-19

    The alcohol withdrawal syndrome can be classified into three degrees of severity on the basis of the symptomatology, autonomic withdrawal, predelirium and delirium tremens. In American literature the severity of withdrawal is recorded using the CIWA-A scale (Clinical Institute Withdrawal Assessment--Alcohol). The pathophysiological causes lie in an imbalance between the inhibitory and excitatory neurotransmitters after giving up alcohol. This results in predomination by the excitatory system. Therapeutic intervention is possible here. Clomethiazole has effective sedative actions, stabilises the autonomic nervous system, and is an anticonvulsant. It is the drug of choice for autonomic withdrawal and predelirium. The benzodlazepines have a similar effect, but cannot be controlled so accurately. Carbamazepine can prevent withdrawal convulsions and progression of delirium. Clonidine acts on autonomic withdrawal and, together with neuroleptics and benzodiazepines, is easy to use parenterally for delirium tremens, while parenteral clomethiazole harbours dangers.

  10. Prenatal Sonographic Diagnosis of Hypoplastic Left Heart Syndrome

    Science.gov (United States)

    Sadineni, Raghu Teja; Kumar, B Santh; Chander, NB; Boppana, Durga Mahita

    2017-01-01

    Hypoplastic left heart syndrome (HLHS) represents a variety of cardiac malformations that may result from errors in the early stages of cardiac development. HLHS includes a wide spectrum of cardiac malformations including hypoplasia of the left ventricle, ascending aorta, hypoplasia, or atresia of the aortic and mitral valves. Over the recent years, the improved resolution of advanced equipment with awareness and increased performance of second-trimester ultrasound examinations for the assessment of fetal anomalies have helped in understanding the spectrum and have expanded our knowledge of HLHS. They are one of the causes which constitute for neonatal morbidity and mortality and hence the rapid need for prenatal evaluation with ultrasound to detect cardiac anomalies. Prenatal recognition of disease also allows families to prepare for a child with a life-threatening defect by consultation with the multidisciplinary team that will care for their newborn and discussing the short- and long-term prognosis. PMID:28904928

  11. Cardiorenal syndrome type 2: from diagnosis to optimal management

    Science.gov (United States)

    De Vecchis, Renato; Baldi, Cesare

    2014-01-01

    The deterioration of renal function, which is linked to chronic heart failure by a chronological and causal relationship (ie, the so-called cardiorenal syndrome [CRS] type 2), has recently become a matter of growing debate. This debate has concerned the efficacy, safety, and cost effectiveness of the therapies that have been implemented thus far for this syndrome (for example, the intravenous [IV] loop diuretics, such as repeated IV boluses or slow IV infusions, as well as mechanical fluid removal, particularly by means of isolated ultrafiltration [IUF]). Further controversies have also emerged concerning the optimal dosage and timing of some evidence-based drugs, such as angiotensin-converting-enzyme inhibitors. The present review summarizes the currently used diagnostic tools for detecting renal damage in CRS type 2. Subsequently, the meaning of worsening renal function is outlined, as well as the sometimes inconsistent therapeutic schemes that have been implemented in order to prevent or counteract worsening renal function. The need to elaborate upon more detailed and comprehensive scientific recommendations for targeted prevention and/or therapy of CRS type 2 is also underlined. The measures usually adopted (such as the more accurate modulation of loop diuretic dose, combined with the exploitation of other diuretics that are able to achieve a sequential blockade of the nephron, as well as the use of IV administration for loop diuretics) are briefly presented. The concept of diuretic resistance is illustrated, along with the paramount operational principles of IUF in diuretic-resistant patients. Some controversies regarding the comparison of IUF with stepped diuretic therapy in patients with CRS type 2 are also addressed. PMID:25419141

  12. Diagnosis of irritable bowel syndrome would be better made by gastroenterologists than primary care physicians

    Directory of Open Access Journals (Sweden)

    Mariette Bengtsson

    2010-08-01

    Full Text Available Irritable bowel syndrome (IBS is a common disease, and constitutes a large portion of pa-tients admitted to gastroenterology units. We wanted to examine whether there is a need for patients with suspected IBS to have a thorough examination by a gastroenterologist to estab-lish the diagnosis, or whether other specialist or subspecialist physicians could better or equally identify the problems. From April 2003 to April 2005, females admitted with presumed IBS and consequently scrutinized by a gastroenterologist in our department were included. They were examined by a physician to establish a diagnosis. Four years later, the medical records were again scrutinized including abdominal symptoms, laboratory analyses and X-ray findings, to check if the findings were identical to the original diagnoses. Fifty admissions were identified. Nine of the patients did not want to participate, and 2 pa-tients did not keep the appointment. The diagnosis of IBS was confirmed in only 20 (51% and the other 19 (49% had another diagnosis other than IBS. At follow up, 3 patients included with the IBS diagnosis had organic diseases, and 4 with another diagnosis also had IBS. Thus, 46% of the examined women with expected IBS had another diagnosis. A thorough examination of the patient and confirmation of the symptoms by a gastroenterologist is necessary before diagnosis of IBS is confirmed. For this purpose, patients need to meet a specialist when diagnosis is uncertain.

  13. [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.

  14. A Clinical Approach to the Diagnosis of Traumatic Encephalopathy Syndrome: A Review.

    Science.gov (United States)

    Reams, Nicole; Eckner, James T; Almeida, Andrea A; Aagesen, Andrea L; Giordani, Bruno; Paulson, Hank; Lorincz, Matthew T; Kutcher, Jeffrey S

    2016-06-01

    Chronic traumatic encephalopathy (CTE) refers to pathologic changes that have been found in some individuals with a history of repetitive traumatic impact to the head (hereinafter referred to as head trauma). These changes cannot be assessed during the clinical evaluation of a living patient. The neuropathologic features, taxonomy, history, role of biomarkers in diagnosis, and existing criteria of CTE are reviewed. Previous criteria have been proposed to approach the living patient; however, a unified, specific approach is needed for the practicing clinician. We propose a new diagnostic construct for the clinical syndrome associated with repetitive exposure to head trauma: traumatic encephalopathy syndrome. This clinical paradigm will provide the framework for a diagnosis of probable, possible, and unlikely traumatic encephalopathy syndrome, with included discussion regarding the minimum exposure, nature of the clinical course, and additional clinical features needed for diagnosis. While prospective longitudinal studies are ongoing to further elucidate the association of exposure to head trauma, clinical features, and the development of pathologic changes, a corresponding clinical construct for diagnosis is necessary.

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

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    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.

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

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    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.

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

    Science.gov (United States)

    Al-Batayneh, Ola B.

    2012-01-01

    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. PMID:22969805

  18. The arterioportal fistula syndrome: clinicopathologic features, diagnosis, and therapy.

    Science.gov (United States)

    Vauthey, J N; Tomczak, R J; Helmberger, T; Gertsch, P; Forsmark, C; Caridi, J; Reed, A; Langham, M R; Lauwers, G Y; Goffette, P; Lerut, J

    1997-10-01

    Arterioportal fistulas (APFs) are rare vascular disorders of the mesenteric circulation. The aim of this study was to determine the etiology, anatomical location, and main symptom at presentation of APFs, and analyze the various modes of treatment. The etiology, clinical presentation, radiographs, and treatment of 12 patients with APFs are reported in detail, and another 76 cases published since 1980 are reviewed. APFs result from trauma (n = 25, 28%), iatrogenic procedures (n = 14, 16%), congenital vascular malformations (n = 13, 15%), tumor (n = 13, 15%), aneurysm (n = 12, 14%), and other causes (n = 11, 12%). The origin of APFs is the hepatic artery in the majority of patients (n = 56, 65%). The main symptoms at presentation are lower or upper gastrointestinal bleeding (n = 29, 33%), ascites (n = 23, 26%), heart failure (n = 4.5%), or diarrhea (n = 4.5%). Radiological intervention provides definitive treatment in 42% (n = 33) of patients, whereas the remainder are treated by surgery alone (n = 27, 31%) or a combination of radiological intervention and surgery (n = 8, 9%). APFs result in a protean syndrome variously combining portal hypertension and other hemodynamic imbalances (heart failure, intestinal ischemia). Single or multiple interventional radiological procedures using arterial and/or venous approaches allow definitive treatment of most APFs. With increasing technological advances, it is anticipated that surgery will only be indicated in rare instances after failure of radiological intervention(s).

  19. Pediatric Balint's Syndrome Variant: A Possible Diagnosis in Children.

    Science.gov (United States)

    Philip, Swetha Sara; Mani, Sunithi Elizabeth; Dutton, Gordon N

    2016-01-01

    Balint's syndrome is well described in adults, but not in children. It is caused by bilateral posterior parietal lobe damage and comprises a triad of simultanagnosia (inability to simultaneously see more than a small number of items), optic ataxia (impaired visual guidance of movement of the limbs and body), and apraxia of gaze (inability to volitionally direct gaze despite the requisite motor substrate) often associated with homonymous lower visual field loss. We, here, describe five children (four males, one female; mean age 7.4 years, [range 4-11 years]; birth weight ≤ 2.5 kg; four were born ≤ 36 weeks of gestational age and one at 40 weeks) who presented to the Cerebral Visual Impairment Clinic at a tertiary care center in South India with clinical features remarkably consistent with the above description. In all children neuroimaging showed bilateral parietooccipital gliosis with regional white matter volume loss and focal callosal thinning, consistent with perinatal hypoxic ischemic encephalopathy and possible neonatal hypoglycemia.

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

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    Del Vescovo Riccardo

    2012-03-01

    Full Text Available Abstract Background 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. Cases presentation 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. Conclusions MR imaging is a very suitable diagnostic tool in order to perform the correct diagnosis of HWW syndrome.

  1. 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.

  2. 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

  3. 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.

  4. Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography.

    Science.gov (United States)

    Guzelmansur, I; Ceylaner, G; Ceylaner, S; Ceylan, N; Daplan, T

    2013-01-01

    Oculoauriculo-vertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, and mandible) and spinal anomalies. We report a patient with unusual features diagnosed prenatally by 3D ultrasonography at 21 weeks' gestation without a family history. An early diagnosis was suggested by observation of a maxillary cleft-plate, multiple vertebral segmentation defects and hypoplastic thumb. Postnatal evaluation also revealed ambiguous genitalia and club feet in addition to the prenatally and postnatally diagnosed classical Goldenhar syndrome features like hemifacial microsomia, preauricular and facial skin tags, coloboma of eyelids, epibulbar dermoid.

  5. Forensic and clinical diagnosis in "shaken baby syndrome", between child abuse and iatrogenic abuse

    Directory of Open Access Journals (Sweden)

    Roxana M. Duncea

    2017-04-01

    Full Text Available “Shaken baby syndrome” in child abuse cases is a challenge for pediatrician and forensic experts, often a diagnosis of exclusion, with overwhelming moral and legal implications. Diagnosis is based on: subdural bleeding, rupture of retinal vessels, traumatic diffuse axonal injury with diffuse brain encephalopathy in the absence of external traumatic injuries and anamnesis data of an accidentally head injury. Microscopic findings in diffuse axonal injuries were initially considered as a specific traumatic effect due to unrestricted movement and accelerated rotation of the head. Immunohistochemistry of beta amyloid protein precursor is gold standard method for identifying pathological diffuse axonal lesions, which is however nonspecific in brain trauma. In the diagnosis of this syndrome pediatricians and forensic examiners must take into account the particularities of each case, avoiding scientific speculation, to intuit controversies and always be familiar with the differential diagnosis.

  6. Definition, etiology, and diagnosis of food protein-induced enterocolitis syndrome.

    Science.gov (United States)

    Feuille, Elizabeth; Nowak-Węgrzyn, Anna

    2014-06-01

    Food protein-induced enterocolitis syndrome (FPIES) is a poorly understood non-IgE-mediated food hypersensitivity, primarily affecting infants and toddlers. There are few data regarding pathophysiology of FPIES that suggest local intestinal imbalance between TNF-α and TGF-β. Patients frequently present with multiple reactions, which are characterized by projectile, repetitive emesis, dehydration, lethargy, and failure to thrive. Despite the severity of presentation, the diagnosis is frequently delayed, and patients often undergo extensive and invasive evaluation prior to reaching the diagnosis. Reviews published in the last year provide a general approach to diagnosis and management of FPIES and aim to increase awareness and understanding of FPIES among general pediatricians. Multicenter studies are necessary to reevaluate and modify the oral food challenge criteria. Research on the pathophysiology of FPIES reactions is necessary to provide insight into the evidence-based approach to diagnosis and management of FPIES. Registries are needed to understand the phenotype, triggers, and prevalence of FPIES.

  7. Plasma Steroid Metabolome 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

    2017-12-05

    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 patients 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.

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

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    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.)

  9. 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.

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

    Science.gov (United States)

    Merlino, Giovanni; Serafini, Anna; Robiony, Francesca; Valente, Mariarosaria; Gigli, Gian Luigi

    2009-01-01

    RLS is a common sleep disorder with distinctive clinical features. The prevalence of RLS in Caucasians and North Americans ranges from 5% to 10%. However, only some of these subjects (almost the 3% of the general population) report being affected by a frequent and severe form of the sleep disorder. RLS is diagnosed clinically by means of four internationally recognized criteria that summarize the main characteristics of the sleep disorder. Besides the essential criteria, supportive and associated features of RLS have been established by experts in order to help physicians treat patients with doubtful symptoms. Several clinical conditions may mimic this sleep disorder. In order to increase the sensibility and specificity of RLS diagnosis, doctors should perform a meticulous patient history and then an accurate physical and neurological examination. Dopamine agonists are recognized as the preferred first-line treatment for RLS. Rotigotine is a non-ergoline dopamine agonist with selectivity for D1, D2 and D3 receptors. The drug is administered via transdermal patches which release rotigotine for 24 hours. Four clinical trials demonstrated that this compound is able to improve RLS symptomatology with few and moderate adverse events. Head to head trials are required to compare the efficacy and tolerability of rotigotine with other dopamine agonists administered via oral intake. Rotigotine has been approved by the FDA and EMEA for Parkinson's disease. For the treatment of moderate to severe idiopathic RLS, rotigotine has been recommended for approval by the EMEA and is under review by the FDA.

  11. 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.

  12. Staphylococcal scalded skin syndrome: diagnosis and management in children and adults.

    Science.gov (United States)

    Handler, M Z; Schwartz, R A

    2014-11-01

    Staphylococcal scalded skin syndrome is a potentially life-threatening disorder caused most often by a phage group II Staphylococcus aureus infection. Staphylococcal scalded skin syndrome is more common in newborns than in adults. Staphylococcal scalded skin syndrome tends to appear abruptly with diffuse erythema and fever. The diagnosis can be confirmed by a skin biopsy specimen, which can be expedited by frozen section processing, as staphylococcal scalded skin syndrome should be distinguished from life threatening toxic epidermal necrolysis. Histologically, the superficial epidermis is detached, the separation level being at the granular layer. The diffuse skin loss is due to a circulating bacterial exotoxin. The aetiological exfoliating toxin is a serine protease that splits only desmoglein 1. The exfoliative toxins are spread haematogenously from a localized source of infection, causing widespread epidermal damage at distant sites. Sepsis and pneumonia are the most feared complications. The purpose of this review is to summarize advances in understanding of this serious disorder and provide therapeutic options for both paediatric and adult patients. Recent epidemiological studies have demonstrated that paediatric patients have an increased incidence of Staphylococcal scalded skin syndrome during the summer and autumn. Mortality is less than 10% in children, but is between 40% and 63% in adults, despite antibacterial therapy. Previously, intravenous immunoglobulin had been recommended to combat Staphylococcal scalded skin syndrome, but a recent study associates its use with prolonged hospitalization. © 2014 European Academy of Dermatology and Venereology.

  13. Cronkhite-Canada syndrome diagnosis in the absence of gastrointestinal polyps: a case report.

    Science.gov (United States)

    De Petris, Giovanni; Chen, Longwen; Pasha, Shabana F; Ruff, Kevin C

    2013-12-01

    A 66-year-old male patient presented with nausea, abdominal pain, occasional rectal bleeding, progressive dysgeusia, onicodystrophy, and alopecia. Endoscopic exam and biopsies revealed severe atrophy and diffuse marked edema of mucosa of stomach and duodenum. No evidence of polyps was found in any portion of the gastrointestinal tract. The diagnosis of Cronkhite-Canada syndrome (CCS) was rendered. The patient symptoms resolved completely after initiation of steroid treatment. This additional case of CCS illustrates how the diagnosis of CCS does not require the presence of polyps but is defined by the appreciation of the diffuse marked edema and atrophy of the gastrointestinal mucosa.

  14. Hepatopulmonary syndrome: which blood gas analysis criteria and position should we use for diagnosis?

    Science.gov (United States)

    Grilo, Israel; Pascasio, Juan Manuel; López-Pardo, Francisco-Jesús; Ortega-Ruiz, Francisco; Tirado, Juan Luis; Sousa, José Manuel; Rodríguez-Puras, María José; Ferrer, María Teresa; Gómez-Bravo, Miguel Ángel; Grilo, Antonio

    2017-10-03

    Different blood gas criteria have been used in the diagnosis of hepatopulmonary syndrome (HPS). Arterial blood gases were prospectively evaluated in 194 cirrhotic candidates for liver transplantation (LT) in the supine and seated position. Three blood gas criteria were analyzed: classic (partial pressure of oxygen [PaO2] blood gas measurements in the supine position and the use of modern criteria are more sensitive for the diagnosis of HPS. Blood gas analysis with the patient seated detects a greater number of severe and very severe cases. The presence of HPS was not associated with an increase in mortality regardless of blood gas criterion used.

  15. 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.

  16. Molecular pathology of myelodysplastic syndromes: new developments and implications for diagnosis and treatment.

    Science.gov (United States)

    Zhang, Xiaohui; Lancet, Jeffrey E; Zhang, Ling

    2015-01-01

    The diagnosis of myelodysplastic syndromes (MDS) has been based on clinical presentations, laboratory and morphological findings, and molecular and cytogenetic profiles. With the advent of single nucleotide polymorphism (SNP) microarrays and high throughput sequencing technologies, a tremendous amount of progress has been made toward better understanding of MDS genetic and molecular changes. Recurring genetic abnormalities have been revealed in up to 80-90% of MDS patients. We herein review clinical and pathological basis of MDS, the most up-to-date advances in molecular diagnostics of MDS, including current understanding of cytogenetic and molecular markers of MDS, and their implications for MDS diagnosis and therapy selection.

  17. Critical analysis of the manoeuvres proposed for the diagnosis of the tunnel carpal syndrome

    Directory of Open Access Journals (Sweden)

    T. Vangelista

    2011-09-01

    Full Text Available Carpal tunnel syndrome (CTS is the most common entrapment neuropathy. It is mainly due to the compression of median nerve at the wrist and it may be idiopathic or secondary to different rheumatic or non rheumatic diseases, including occupational activities. Since signs and symptoms of CTS are characteristic, a careful examination of the affected patient may be very satisfactory for the diagnosis, in particular by mean of some manoeuvres. In this review we described and commented the tests considered most useful in the diagnosis of CTS. We also analysed the diagnostic values of electromiography, the most important electrodiagnostic study for the CTS.

  18. 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.

  19. Herlyn-Werner-Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis.

    Science.gov (United States)

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

    2013-07-01

    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.

  20. Herlyn-Werner-Wunderlich syndrome presenting with infertility: Role of MRI in diagnosis

    Directory of Open Access Journals (Sweden)

    Zohra Ahmad

    2013-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    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. PMID:24347855

  2. [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.

  3. 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

  4. 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...... that specific activity induced strain (SAIS) can be used to diagnose the specific affected compartments, and in this way be able to safely and effectively treat this disorder using endoscopic assisted selective fasciotomy (EASF). Materials and Methods: Retrospective follow-up study of 13 consecutive selected...... 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...

  5. Children and adolescents with fetal alcohol syndrome (FAS): better social and emotional integration after early diagnosis.

    Science.gov (United States)

    Alex, K; Feldmann, R

    2012-03-01

    Alcoholism during pregnancy is one of the most common factors in western societies causing persisting congenital and multiple physical as well as neurological impairments. Finding the diagnosis at first sight puts medical professionals into a demanding situation. Therefore the objective of this study was to detect patients' developmental characteristics with the main focus on the necessity of the diagnosis itself. 125 young patients, whose diagnosis of fetal alcohol syndrome (FAS) was made at the Muenster University Hospital, were followed up. Biographic details such as living conditions, health, developmental problems and educational career were gathered using a structured interview. The diagnosis itself and the impact of this on the patients were also explored. Patients displayed characteristics of a less mature trait of character. The majority were looked after by foster parents. High rates of social and developmental problems could be found. The diagnosis was identified as a protective factor, with significantly better outcomes for patients being diagnosed in early childhood. A diagnosis established later in life was particularly helpful for the families and caregivers. Feelings of failure and self-blame could be diminished. The early detection of affected children has to be improved as receiving the correct diagnosis, despite the persistent impairments, is of major benefit for both patients and their families. © Georg Thieme Verlag KG Stuttgart · New York.

  6. 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 (Fluorescence in situ hybridization (FISH) technique is commonly used for precise genetic diagnosis of 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.

  7. Current Diagnosis and Treatment Models of Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Lymphadenitis Syndrome

    Directory of Open Access Journals (Sweden)

    Ayşenur Paç Kısaarslan

    2017-06-01

    Full Text Available Periodic fever, aphthous stomatitis, pharyngitis, and cervical lymphadenitis (PFAPA syndrome is the most frequent cause of periodic fever in childhood. The pathogenesis of PFAPA is still unknown. Differantial diagnosis must be made with cyclic neutropenia and other autoinflammatory diseases. Because PFAPA is self limiting and benign, there is no certain treatment model. Treatment options must be specific to the patient, with a strong family and doctor relationship.

  8. Hypothenar hammer syndrome in a computer programmer: CTA diagnosis and surgical and endovascular treatment.

    Science.gov (United States)

    Abdel-Gawad, Ehab A; Bonatti, Hugo; Housseini, Ahmed M; Maged, Ismaeel M; Morgan, Raymond F; Hagspiel, Klaus D

    2009-01-01

    Finger ischemia due to embolic occlusion of digital arteries resulting from trauma to the palmar ulnar artery has been termed hypothenar hammer syndrome (HHS). In HHS, arterial thrombosis and/or aneurysm formation with embolization to the digital arteries causes symptoms of ischemia. We describe a patient in whom the initial diagnosis was made on multidetector computed tomographic angiography (CTA), as well as his endovascular and surgical management.

  9. Diagnosis of autism spectrum disorder:Reconciling the syndrome, its diverse origins, and variation in expression

    OpenAIRE

    Constantino, John N.; Charman, Tony

    2016-01-01

    Recent discoveries about the pathogenesis and symptom structure of autism spectrum disorders (ASDs) are challenging traditional nosology and driving efforts to reconceptualise the diagnosis of autism, a goal made all the more pressing by new prospects for early identification, targeted intervention, and personalised-medicine approaches to specific autistic syndromes. Recognition that ASD represents the severe end of a continuous distribution of social communication abilities in the general po...

  10. [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.

  11. Guidelines for the Laboratory Diagnosis of Middle East Respiratory Syndrome Coronavirus in Korea

    OpenAIRE

    Lee, Hyukmin; Ki, Chang-Seok; Sung, Heungsup; Kim, Sinyoung; Seong, Moon-Woo; Yong, Dongeun; Kim, Jae-Seok; Lee, Mi-Kyung; Kim, Mi Na; Choi, Jong-Rak; Kim, Jeong-Ho

    2016-01-01

    The recent outbreak of Middle East respiratory syndrome (MERS) in Korea was unexpected that laboratory response had to be built up urgently during the outbreak. The outbreak was almost all healthcare-associated, which was aggravated by lack of availability in laboratory diagnosis of MERS-CoV on site. On behalf of the MERS joint public and private sector response committee (MERS Joint committee), the Korean Society for Laboratory Medicine (KSLM) launched a MERS response task force (MERS KSLM T...

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

    Science.gov (United States)

    2003-01-01

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

  13. Inflammatory fatigue and sickness behaviour - lessons for the diagnosis and management of chronic fatigue syndrome.

    Science.gov (United States)

    Arnett, S V; Clark, I A

    2012-12-10

    Persistent and severe fatigue is a common part of the presentation of a diverse range of disease processes. There is a growing body of evidence indicating a common inflammatory pathophysiology underlying many conditions where fatigue is a primary patient concern, including chronic fatigue syndrome. This review explores current models of how inflammatory mediators act on the central nervous system to produce fatigue and sickness behaviour, and the commonality of these processes in conditions as diverse as surgical trauma, infection, various cancers, inflammatory bowel disease, connective tissue diseases and autoimmune diseases. We also discuss evidence indicating chronic fatigue syndrome may have important pathophysiological similarities with cytokine mediated sickness behaviour, and what lessons can be applied from sickness behaviour to chronic fatigue syndrome with regards to the diagnosis and management. Copyright © 2012 Elsevier B.V. All rights reserved.

  14. 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

  15. The role of aortic wall CT attenuation measurements for the diagnosis of acute aortic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Knollmann, Friedrich D., E-mail: friedrich.knollmann@ucdmc.ucdavis.edu [Department of Radiology, University of California, Davis, 4860 Y Street, Sacramento, CA 95817 (United States); Departments of Radiology and Cardiothoracic Surgery, University of Pittsburgh, 200 Lothrop Street, Pittsburgh, PA 15213 (United States); Lacomis, Joan M.; Ocak, Iclal; Gleason, Thomas [Department of Radiology, University of California, Davis, 4860 Y Street, Sacramento, CA 95817 (United States); Departments of Radiology and Cardiothoracic Surgery, University of Pittsburgh, 200 Lothrop Street, Pittsburgh, PA 15213 (United States)

    2013-12-01

    Objectives: To determine if measurements of aortic wall attenuation can improve the CT diagnosis of acute aortic syndromes. Methods: CT reports from a ten year period were searched for acute aortic syndromes (AAS). Studies with both an unenhanced and a contrast enhanced (CTA) series that had resulted in the diagnosis of intramural hematoma (IMH) were reviewed. Diagnoses were confirmed by medical records. The attenuation of aortic wall abnormalities was measured. The observed attenuation threshold was validated using studies from 39 new subjects with a variety of aortic conditions. Results: The term “aortic dissection” was identified in 1206, and IMH in 124 patients’ reports. IMH was confirmed in 31 patients, 21 of whom had both unenhanced and contrast enhanced images. All 21 had pathologic CTA findings, and no CTA with IMH was normal. Attenuation of the aortic wall was greater than 45 HUs on the CTA images in all patients with IMH. When this threshold was applied to the new group, sensitivity for diagnosing AAS was 100% (19/19), and specificity 94% (16/17). Addition of unenhanced images did not improve accuracy. Conclusions: Measurements of aortic wall attenuation in CTA have a high negative predictive value for the diagnosis of acute aortic syndromes.

  16. 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.

  17. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline.

    Science.gov (United States)

    Brown, Rebecca J; Araujo-Vilar, David; Cheung, Pik To; Dunger, David; Garg, Abhimanyu; Jack, Michelle; Mungai, Lucy; Oral, Elif A; Patni, Nivedita; Rother, Kristina I; von Schnurbein, Julia; Sorkina, Ekaterina; Stanley, Takara; Vigouroux, Corinne; Wabitsch, Martin; Williams, Rachel; Yorifuji, Tohru

    2016-12-01

    Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis. Due to their rarity, most clinicians are not familiar with their diagnosis and management. This practice guideline summarizes the diagnosis and management of lipodystrophy syndromes not associated with HIV or injectable drugs. Seventeen participants were nominated by worldwide endocrine societies or selected by the committee as content experts. Funding was via an unrestricted educational grant from Astra Zeneca to the Pediatric Endocrine Society. Meetings were not open to the general public. A literature review was conducted by the committee. Recommendations of the committee were graded using the system of the American Heart Association. Expert opinion was used when published data were unavailable or scarce. The guideline was drafted by committee members and reviewed, revised, and approved by the entire committee during group meetings. Contributing societies reviewed the document and provided approval. Lipodystrophy syndromes are heterogeneous and are diagnosed by clinical phenotype, supplemented by genetic testing in certain forms. Patients with most lipodystrophy syndromes should be screened for diabetes, dyslipidemia, and liver, kidney, and heart disease annually. Diet is essential for the management of metabolic complications of lipodystrophy. Metreleptin therapy is effective for metabolic complications in hypoleptinemic patients with generalized lipodystrophy and selected patients with partial lipodystrophy. Other treatments not specific for lipodystrophy may be helpful as well (eg, metformin for diabetes, and statins or fibrates for hyperlipidemia). Oral estrogens are contraindicated.

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

    Energy Technology Data Exchange (ETDEWEB)

    Ryan, M.; Twair, A.; Nelson, E.; Brennan, D.; Eustace, S. [Cappagh National Orthopaedic Hospital Finglas, Dublin (Ireland)

    2004-08-01

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

  19. [Importance of the interdisciplinary, evidence-based diagnosis of polycystic ovary syndrome].

    Science.gov (United States)

    Gődény, Sándor; Csenteri, Orsolya

    2014-07-27

    Polycystic ovary syndrome is recognized as the most common hormonal and metabolic disorder of women. This heterogeneous endocrinopathy characterized by clinical and/or biochemical hyperandrogenism, oligo- or amenorrhoea, anovulatory infertility, and polycystic ovarian morphology. The prevalence, clinical feature and the risk of co-morbidity vary depending on the accuracy of the diagnosis and the criteria used. Evidence suggests that those women are at high risk who fulfil the criteria based on National Institute of Health. The complex feature of the syndrome and the considerable practice heterogeneity that is present with regards to diagnostic testing of patients who are suspected to have polycystic ovary syndrome require an interdisciplinary, evidence-based diagnostic approach. Such a method can ensure the patient safety and the effectiveness and efficiency of the diagnosis. This paper summarises the highest available evidence provided by well-designed studies, meta-analysis and systematic reviews of the clinical feature and the clinical implications of the diagnostic criteria of polycystic ovary syndrome.

  20. Impact of Doppler Ultrasound on Diagnosis and Therapy Control of Lienalis Steal Syndrome After Liver Transplantation.

    Science.gov (United States)

    Teegen, Eva M; Denecke, Timm; Schmuck, Rosa B; Öllinger, Robert; Geisel, Dominik; Pratschke, Johann; Chopra, Sascha S

    2017-07-18

    BACKGROUND Lienalis steal syndrome is a rare complication after orthotopic liver transplantation leading to severe complications. Routine duplex sonography allows early and safe detection of lienalis steal syndrome and secondarily helps to monitor the outcome by evaluating the hemodynamics. MATERIAL AND METHODS This analysis included eight patients who after orthotopic liver transplantation needed splenic artery embolization due to lienalis steal syndrome. Lienalis steal syndrome was assumed in case of elevated transaminases, bilirubinemia or persistent ascites, and the absence of further pathologies. Diagnosis was supported by ultrasound, confirmed by digital subtraction angiography, and followed by splenic artery embolization for treatment. We analyzed blood levels and ultrasound findings before and after splenic artery embolization as well as during follow-up and evaluated for incidence of severe biliary complications and survival. RESULTS Arterial resistive index (RI) significantly regularized after splenic artery embolization while the maximum arterial velocity increased. The portal venous flow volume and maximum velocity decrease. Laboratory parameters normalized. Two of eight patients developed ischemic-type biliary disease. Survival rate was 88% over a median follow-up of 33 months. CONCLUSIONS Beside unspecific clinical findings, bedside ultrasound examination enabled a quick verification of the diagnosis and allowed direct treatment to minimize further complications. Furthermore, ultrasound can immediately monitor the therapeutic effect of splenic artery embolization.

  1. 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.

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

    Science.gov (United States)

    Yoshimura, Hidekane; Iwasaki, Satoshi; Nishio, Shin-Ya; Kumakawa, Kozo; Tono, Tetsuya; Kobayashi, Yumiko; Sato, Hiroaki; Nagai, Kyoko; Ishikawa, Kotaro; Ikezono, Tetsuo; Naito, Yasushi; Fukushima, Kunihiro; Oshikawa, Chie; Kimitsuki, Takashi; Nakanishi, Hiroshi; Usami, Shin-Ichi

    2014-01-01

    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.

  3. Recurrent renal colic in young people: abdominal Munchausen syndrome--a diagnosis not to forget.

    Science.gov (United States)

    Cai, Tommaso; Pazzagli, Adolfo; Gavazzi, Andrea; Bartoletti, Riccardo

    2008-03-01

    The Munchausen's syndrome (MHS) is a rare psychiatric disorder classified among the self-manipulated diseases. Incidence of Munchausen syndrome peaks in young-to-middle-aged adults, but it has been reported in patients of all ages (ie, childhood through advanced age). Diagnosing Munchausen syndrome is very difficult, but early diagnosis could to a considerable extent prevent the iatrogenic risks. Indeed, the management of Müchhausen syndrome is aggravated by the low compliance in these patients. We report an unusual case of MHS in urological practice, in order to demonstrate that the MHS is an underestimated and laborious to diagnose syndrome. A 25-year-old single female affected by recurrent episodes of renal colic was admitted to our institution, reporting right acute flank pain and at least two previous periods of hospitalization due to bilateral acute flank pain with no evidence of urinary calculi or either morphological or functional alterations. Neither the urodynamic study nor abdominal CT scan nor pelvic NMR revealed any morphological or functional alterations. In order to exclude a multiple sclerosis, an encephalic NMR and neurological evaluation were also performed. At this stage, suspicion was raised regarding the possible factitious nature of her problem and a psychiatric consultation was made. On the basis of psychiatric consultation and the symptoms resolution with simple intravenous saline solution infusions, the diagnosis of factitious illness (Munchausen syndrome) was confirmed. In the present case report, we stress the fact that the MHS is an underestimated medical problem and the necessity to evaluate the possible role of psychiatric disorders in the absence of pathological findings.

  4. Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia

    DEFF Research Database (Denmark)

    Storr, Helen L; Mitchell, J H; Swords, F M

    2004-01-01

    BACKGROUND: Primary nodular adrenocortical hyperplasia (PNAH) is a well recognized, but infrequently studied cause of paediatric Cushing's syndrome (CS). OBJECTIVE: To assess presentation, diagnosis, radiological imaging, treatment and molecular analysis of patients with childhood-onset CS due...

  5. 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.

  6. A diagnosis of haemolytic-uraemic syndrome blurred by alcohol abuse.

    Science.gov (United States)

    Killian, Martin; Bruel Tronchon, Noémie; Maillard, Nicolas; Tardy, Bernard

    2014-12-24

    A 60-year-old man with a history of alcohol abuse was admitted to the intensive care unit (ICU) for status epilepticus. At first, laboratory and imagery findings were almost normal, and the symptoms were attributed to severe alcohol withdrawal due to a history of gastroenteritis reported by his family. But, during the following days, haemolytic anaemia, thrombocytopenia, acute renal failure, and ischaemic and haemorrhagic lesions seen on a cerebral CT scan led to the diagnosis of haemolytic-uraemic syndrome (HUS). Despite these severe complications, the patient made a good recovery following ICU and plasma exchange with fresh frozen plasma (FFP), but cognitive deficit still existed after 1 month. It is important to know that neurological manifestations can precede typical biological and radiological signs in HUS, and to not be misled in the diagnosis process, especially when a more common differential diagnosis is possible. 2014 BMJ Publishing Group Ltd.

  7. 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.

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

    Directory of Open Access Journals (Sweden)

    Diego Alvarez-Estevez

    2015-01-01

    Full Text Available 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.

  9. 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

  10. 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.

  11. 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

  12. The diagnosis of hyper immunoglobulin e syndrome based on project management.

    Science.gov (United States)

    Saghafi, Shiva; Pourpak, Zahra; Glocker, Cristina; Nussbaumer, Franziska; Babamahmoodi, Abdolreza; Grimbacher, Bodo; Moin, Mostafa

    2015-04-01

    Hyperimmunoglobulin E Syndrome (HIES) is a complex primary immunodeficiency characterized by both immunologic and non-immunologic manifestations. High serum IgE level, eosinophilia, eczema, recurrent skin and lung infections constitute the immunologic profile of HIES, whereas characteristic facial appearance, scoliosis, retained primary teeth, joint hyperextensibility, bone fractures following minimal trauma and craniosynostosis are the main non-immunologic manifestations. The diagnosis of HIES cannot be made by routine immunologic tests. As the main characteristic laboratory abnormalities of this syndrome are highly elevated serum IgE levels and eosinophilia; both features have a broad spectrum of differential diagnosis. The purpose of this essay was presenting the best way for diagnosis management of HIES. Based on the genetic reports of patients of the Center for Chronic Immunodeficiency (CCI) as a single center experience, and applying project management (PM) in health care research projects, we sought the best way for a rapid diagnosis of HIES. The combination of project management principles with immunologic and genetic knowledge to better define the laboratory and clinical diagnosis lead to an improvement of the management of patients with HIES. These results are shown in one "Decision Tree" which is based on 342 genetic reports of the CCI during the past ten years. It is necessary to facilitate the diagnostic analysis of suspected HIES patients; applying project management in health care research projects provides a better and more accurate diagnosis eventually leading to a better patients' care. This Abstract was presented at 16th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2014), Prague, Czech Republic.

  13. [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.

  14. "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

  15. Systematic review: accuracy of symptom-based criteria for diagnosis of irritable bowel syndrome in primary care.

    NARCIS (Netherlands)

    Jellema, P.; Windt, D.A.W.M. van der; Schellevis, F.G.; Horst, H.E. van der

    2009-01-01

    BACKGROUND: Despite the trend towards making a positive diagnosis of irritable bowel syndrome (IBS), many health care providers approach IBS as a diagnosis of exclusion. AIM: To summarize available evidence on the diagnostic performance of symptom-based IBS criteria in excluding organic diseases,

  16. 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.

  17. Painful Hip Leading to the Diagnosis of MEN 2B Syndrome

    Directory of Open Access Journals (Sweden)

    Mehtab Ahmad

    2012-01-01

    Full Text Available Context. MEN 2B syndrome is characterized by the presence of medullary thyroid cancer, pheochromocytoma, mucosal neuromas, marfanoid features, and skeletal abnormalities like kyphoscoliosis, joint laxity, pes cavus, and slipped capital femoral epiphysis (SCFE in a minority; we present the case of a young female who was brought to medical attention due to painful hip because of SCFE. Case Report. A 16-year-old female presented to orthopedics out-patient department (OPD with complaints of pain around the left hip and walking with a limp for the last two months. MRI of hip confirmed the presence of SCFE of the left hip. General examination detected thyroid swelling which was found to be a medullary thyroid cancer and imaging of abdomen confirmed the presence of bilateral pheochromocytoma, also present were neuromas of tongue and lips. Thus, a diagnosis of MEN 2B syndrome was made. Conclusion. SCFE can sometimes be the presenting feature of MEN 2B syndrome. Physicians should keep this in mind as it can lead to early diagnosis of a potentially lethal illness.

  18. Autism: Diagnosis

    Science.gov (United States)

    ... What is Autism? Signs and Symptoms Diagnosis Causes Asperger’s Syndrome Facts and Statistics Living with Autism Living ... What is Autism? Signs and Symptoms Diagnosis Causes Asperger’s Syndrome Facts and Statistics Living with Autism Living ...

  19. Making the diagnosis of Chronic Fatigue Syndrome/Myalgic Encephalitis in primary care: a qualitative study

    Directory of Open Access Journals (Sweden)

    Richardson Victoria

    2010-02-01

    Full Text Available Abstract Background NICE guidelines emphasise the role of the primary care team in the management of patients with Chronic Fatigue Syndrome/Myalgic Encephalitis (CFS/ME. A key stage in effective management is making an accurate early diagnosis, supported by appropriate referral. Methods A nested qualitative study within a multi-centre randomised controlled trial which aimed to explore GPs' views on their role in making the diagnosis of CFS/ME and subsequent management of patients in primary care. Semi-structured interviews with 22 GPs. Interviews were transcribed verbatim and an iterative approach used to develop themes from the dataset. Results GPs described difficulties in defining CFS/ME and suggested that their role in making a diagnosis was to exclude physical causes for the patient's symptoms, but they reported little confidence in positively attributing the label of CFS/ME to a patient and their symptoms. GPs suggested that the label of CFS/ME could be potentially harmful for the patient. The role of referral to secondary care was debated and GPs struggled defining their own role in management of this group of patients. Conclusions Until GPs feel comfortable making the diagnosis of CFS/ME and facilitating initial management, and have appropriate services to refer patients to, there will continue to be delays in confirming the diagnosis and patients presenting in primary care with fatigue may not receive appropriate care. Trial Registration ISRCTN 74156610

  20. 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.

  1. 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.

  2. Munchausen syndrome and factitious disorder: the role of the laboratory in its detection and diagnosis.

    Science.gov (United States)

    Kinns, H; Housley, D; Freedman, D B

    2013-05-01

    The term Munchausen syndrome is used to describe the patient who chronically fabricates or induces illness with the sole intention of assuming the patient role. Such persons often have a close association with the medical profession and thus use their knowledge to falsify symptoms and laboratory specimens to mimic disease. Cases of factitious disease have appeared in the literature originating from all medical specialties, and include such rare disorders as phaeochromocytoma and Bartter's syndrome. The laboratory can play a key role in the detection and diagnosis of factitious disorders. Indeed discrepant biochemistry results may provide the first clue to the diagnosis. Laboratory staff should be particularly aware of highly variable test results and extreme abnormalities that are not consistent with the wider biochemical profile, suggesting sample tampering. Factitious disorder should also be included in the clinician's differential diagnosis when disease presentation is unusual or an underlying cause cannot be found. Investigation to exclude or confirm factitious disorder at an early stage can prevent unnecessary testing in the search for increasingly rare diseases. Appropriate analyses may include screening tests for the detection of surreptitious drug administration or replication of a fabricated sample to confirm the method used. In all cases close communication between the clinician and laboratory is essential. This will ensure that appropriate tests are conducted particularly with regard to time critical and repeat tests.

  3. 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.

  4. 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.

  5. 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.

  6. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

    Science.gov (United States)

    Blanco-Kelly, Fiona; Palomares, María; Vallespín, Elena; Villaverde, Cristina; Martín-Arenas, Rubén; Vélez-Monsalve, Camilo; Lorda-Sánchez, Isabel; Nevado, Julián; Trujillo-Tiebas, María José; Lapunzina, Pablo; Ayuso, Carmen; Corton, Marta

    2017-01-01

    Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus. Our approach increased the detection rate in a Spanish cohort of 38 patients with aniridia, WAGR syndrome and other related ocular malformations, allowing to characterize four undiagnosed aniridia cases, and to confirm MLPA findings in four additional patients. For all patients, breakpoints were accurately established and a contiguous deletion syndrome, involving a large number of genes, was identified in three patients. Moreover, we identified novel microdeletions affecting 3' PAX6 regulatory regions in three families with isolated aniridia. This tool represents a good strategy for the genetic diagnosis of aniridia and associated syndromes, allowing for a more accurate CNVs detection, as well as a better delineation of breakpoints. Our results underline the clinical importance of performing exhaustive and accurate analysis of chromosomal rearrangements for patients with aniridia, especially newborns and those without defects in PAX6 after diagnostic screening.

  7. Biopsy of small salivary glands in the diagnosis of Mikulicz-Sjögren's syndrome

    Directory of Open Access Journals (Sweden)

    Ilić Srbislav

    2002-01-01

    Full Text Available Background. Sjögren's syndrome (SS represents autoimmune disease characterized by chronic inflammation, destruction and insufficiency of exocrine glands, particularly salivary and lacrimal glands, accompanied by dryness of mouths and eyes. Diagnostic work-up involves clinical laboratory tests, radiography, scintigraphy and bioptic histopathological examination. Examination of small salivary glands in the biopsy of the lower lip represents a 'golden standard' of diagnosis of SS, concerning the fact that the growth and the disfunction of salivary and lacrimal glands occurs in different pathologic states. Methods. Resected specimens of the lower lip were obtained from 47 patients with clinical diagnosis of SS. After standard histopathological treatment, slices were hematoxylin and eosin stained. Immunohistochemistry against smooth muscle actin was performed using LSAB+ method (AHSMA-M7558, DAKO 1:50. On the basis of generally accepted histopathological diagnostic criteria the results were categorized as: findings suspicious for SS; findings compatible with the diagnosis of SS (mild, moderate and high degree of inflammation; nonspecific inflammatory reaction and nonrepresentative biopsy samples. Results. Diagnosis of SS was confirmed in 32% of cases. In 2% of cases findings were suspected for SS, in 36% of cases findings were compatible with the diagnosis of nonspecific inflammation, and in 30% of cases material was not representative. Conclusions. By the biopsy of salivary glands of the lower lip the diagnosis of SS was confirmed in 50-60% of cases. Upon the precise diagnostic criteria it was also possible to determine the intensity of inflammation and tissue destruction in SS and identify other pathological conditions, which justified the biopsy. Surgical technique had to be adequate in order to obtain representative number of small salivary glands. In the presented material 30% of specimens were nonrepresentative which was very high percentage

  8. 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 c...... cannot be used for clinical diagnosis. We therefore aimed to establish a laboratory test that can be applied clinically.......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...

  9. Evaluation, diagnosis, and treatment of chronic exertional compartment syndrome: a review of current literature.

    Science.gov (United States)

    Vajapey, Sravya; Miller, Timothy L

    2017-11-01

    Chronic exertional compartment syndrome (CECS) is a rare condition that usually affects distance runners and other running athletes. It is characterized by pain and pressure in one or multiple muscle compartments with repetitive physical activity. Reduction in pain typically occurs with cessation of activity. Evaluation of CECS consists of a thorough history of patient symptoms and ruling out of other causes of symptoms. Post-exercise pressure measurements can help confirm the diagnosis when symptoms are consistent and imaging evaluation negative for other causes. Non-operative treatment is a viable option for hindfoot runners and patients with anterior compartment syndrome of the leg. Limited-incision fasciotomy has been shown to be the most effective treatment and remains the gold standard for treatment. Minimal-incision open fasciotomy and endoscopic fasciotomy have surgical outcomes similar to wide-open fasciotomy. Military patients treated with fasciotomy have higher failure rates compared to civilians. Pediatric patients have similar outcomes compared to adults.

  10. Imaging Diagnosis of Herlyn-Werner-Wunderlich Syndrome- An Extremely Rare Urogenital Anomaly.

    Science.gov (United States)

    Mehra, Shibani; Chamaria, Komal; Garga, U C; Kataria, Ankur; Ahuja, Ashim

    2015-05-01

    Herlyn-Werner-Wunderlich (HWW) syndrome is a very rare congenital anomaly of the urogenital tract resulting from maldevelopment of both Mullerian and Wolffian ducts. It is characterized by the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis. It generally presents at puberty shortly following menarche with the symptom of acute pelvic pain. Management of these cases is surgical and consists mainly of vaginoplasty with excision of the vaginal septum in order to release the obstruction and prevent the long term complication of recurrent pyocolpos and infertility. We report here a case of Herlyn-Werner-Wunderlich syndrome in a 13-year-old adolescent girl, emphasizing the role of imaging in the accurate and prompt diagnosis of this rare developmental urogenital anomaly. Only a few hundred such cases have been reported in literature till date.

  11. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

    Science.gov (United States)

    Ben-Rebeh, Imen; Grati, Mhamed; Bonnet, Crystel; Bouassida, Walid; Hadjamor, Imen; Ayadi, Hammadi; Ghorbel, Abdelmonem; Petit, Christine; Masmoudi, Saber

    2016-01-01

    Usher syndrome accounts for about 50% of all hereditary deaf-blindness cases. The most severe form of this syndrome, Usher syndrome type I (USH1), is characterized by profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. Six USH1 genes have been identified, MYO7A, CDH23, PCDH15, USH1C, SANS, and CIB2, encoding myosin VIIA, cadherin-23, protocadherin-15, harmonin, scaffold protein containing ankyrin repeats and a sterile alpha motif (SAM) domain, and calcium- and integrin-binding member 2, respectively. In the present study, we recruited four Tunisian families with a diagnosis of USH1, together with healthy unrelated controls. Affected members underwent detailed audiologic and ocular examinations. We used the North African Deafness (NADf) chip to search for known North African mutations associated with USH. Then, we selected microsatellite markers covering USH1 known loci to genotype the DNA samples. Finally, we performed DNA sequencing of three known USH1 genes: MYO7A, PCDH15, and USH1C. Four biallelic mutations, all single base changes, were found in the MYO7A, USH1C, and PCDH15 genes. These mutations consist of a previously reported splicing defect c.470+1G>A in MYO7A, three novel variants, including two nonsense (p.Arg3X and p.Arg134X) in USH1C and PCDH15, respectively, and one frameshift (p.Lys615Asnfs*6) in MYO7A. We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease. Ultimately, efficient molecular diagnosis of USH in a patient's early childhood is of utmost importance, allowing better educational and therapeutic management.

  12. 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

  13. 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.

  14. [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.

  15. 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.

  16. Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.

    Science.gov (United States)

    McKay, Victoria H; Touil, Leila L; Jenkins, Dagan; Fattah, Adel Y

    2016-09-01

    Moebius syndrome (MBS) is a congenital, non-progressive facial and abducens nerve palsy in the presence of full vertical gaze and may be associated with limb abnormalities and craniofacial dysmorphisms. MBS is now defined as a disorder of rhombencephalic maldevelopment and recent gene discoveries have shown this to be a dominant disorder in a subset of patients. Accurate diagnosis and management by a multidisciplinary team with expertise in congenital facial palsy is paramount. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  17. Dumping Syndrome: A Review of the Current Concepts of Pathophysiology, Diagnosis, and Treatment.

    Science.gov (United States)

    Berg, Patrick; McCallum, Richard

    2016-01-01

    Gastric surgery has long been known to be a cause of dumping syndrome (DS). However, the increasing incidence of gastric bypass surgery, as well as reports of DS unrelated to previous gastric surgeries, has increased the importance of understanding DS in recent years. DS is due to the gastrointestinal response to voluminous and hyperosmolar chyme that is rapidly expelled from the stomach into the small intestine. This response involves neural and hormonal mechanisms. This review encompasses the symptoms, diagnosis, and treatment approaches of DS and also focuses on the current research status of the pathophysiology of DS.

  18. [Fortuitous discovery of intracerebral foreign body leads to the diagnosis of Munchausen syndrome by proxy].

    Science.gov (United States)

    Bouaziz Abed, A; Mustapha, R; Chiha, M

    2011-11-01

    An intracerebral foreign body is a rare situation in childhood. It often occurs accidentally with transorbital or more rarely transnasal penetration. We report the case of a child who had been followed since the age of 2.5 months for chronic vomiting without failure to thrive. The fortuitous discovery at 22 months of age of a 4.5-cm-long sewing needle in his brain probably introduced via the fontanel led us to the diagnosis of Munchausen syndrome by proxy. Copyright © 2011. Published by Elsevier SAS.

  19. 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...

  20. Chromosome 1p36 Deletion Syndrome: Prenatal Diagnosis, Molecular Cytogenetic Characterization and Fetal Ultrasound Findings

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2010-12-01

    Conclusion: Spectral karyotyping, fluorescence in situ hybridization and array comparative genomic hybridization are useful for the prenatal investigation of the nature of a de novo aberrant derivative chromosome. Partial monosomy 1p (1p36.23→pter and partial trisomy 20p (20p12.1→pter are associated with ventriculomegaly, ventricular septal defect and midface hypoplasia on prenatal ultrasound. Prenatal diagnosis of ventriculomegaly, congenital heart defects and midface hypoplasia should alert clinicians to chromosome 1p36 deletion syndrome and prompt molecular cytogenetic analysis if necessary.

  1. 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.

  2. Ultrasound-Guided Quadrilateral Space Block for the Diagnosis of Quadrilateral Syndrome

    Directory of Open Access Journals (Sweden)

    Hamilton Chen

    2015-01-01

    Full Text Available Quadrilateral space syndrome (QSS is a rare nerve entrapment disorder that occurs when the axillary nerve and posterior circumflex humeral artery (PCHA become compressed in the quadrilateral space. QSS presents as vague posterolateral shoulder pain that is exacerbated upon the abduction and external rotation of the shoulder. Diagnosis of QSS is difficult because of the vague presentation of QSS. In addition, even though MRI and MR angiography can be used in QSS diagnosis, there is currently no “gold standard” diagnostic imaging studies for QSS. In this case report, we describe a novel ultrasound-guided technique for a diagnostic quadrilateral space block and present a case where the diagnostic block was used to diagnose QSS. We believe that a diagnostic block of the quadrilateral space is a useful adjunct in the evaluation of patients with suspected QSS, especially in cases where examination findings and other diagnostic modalities are indeterminate.

  3. 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.

  4. 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.

  5. Ultrasound-guided quadrilateral space block for the diagnosis of quadrilateral syndrome.

    Science.gov (United States)

    Chen, Hamilton; Narvaez, Vincent Reginald

    2015-01-01

    Quadrilateral space syndrome (QSS) is a rare nerve entrapment disorder that occurs when the axillary nerve and posterior circumflex humeral artery (PCHA) become compressed in the quadrilateral space. QSS presents as vague posterolateral shoulder pain that is exacerbated upon the abduction and external rotation of the shoulder. Diagnosis of QSS is difficult because of the vague presentation of QSS. In addition, even though MRI and MR angiography can be used in QSS diagnosis, there is currently no "gold standard" diagnostic imaging studies for QSS. In this case report, we describe a novel ultrasound-guided technique for a diagnostic quadrilateral space block and present a case where the diagnostic block was used to diagnose QSS. We believe that a diagnostic block of the quadrilateral space is a useful adjunct in the evaluation of patients with suspected QSS, especially in cases where examination findings and other diagnostic modalities are indeterminate.

  6. [Identification and application of marker genes for differential diagnosis of chronic fatigue syndrome].

    Science.gov (United States)

    Kawai, Tomoko; Rokutan, Kazuhito

    2007-06-01

    Chronic fatigue syndrome (CFS) is a complex disease and has no laboratory biomarkers, which makes diagnosis of CFS difficult. Several research groups challenged to identify genes specific for CFS; however, there are no overlaps between studies. The U.S. Centers for Disease Control and Prevention reported remarkable gene expression profiles of a large scale cohort study recruited 227 people. Reported genes were mostly different from the previously reported genes, again featuring the complexity of CFS. Separately, we identified 9 genes that were significantly and differentially expressed between CFS patients and healthy subjects using an original microarray. The changes in expression of 9 genes were confirmed by quantitative PCR. We also demonstrated the usefulness of 9 genes for differential diagnosis of CFS.

  7. 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.

  8. 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

  9. Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome.

    Science.gov (United States)

    Ong, Kim-Thanh; Plauchu, Henri; Peyrol, Simone; Roux, Elisabeth; Errazuriz, Elisabeth; Khau Van Kien, Philippe; Arbeille, Brigitte; Gaulier, Alain; Georgescou, Gabriela; Collignon, Patrick; Germain, Dominique P; Gaveau, Marie-Noëlle; Perdu, Jérôme; Laurent, Stéphane; Bruneval, Patrick; Boutouyrie, Pierre

    2012-06-01

    Vascular Ehlers-Danlos syndrome (vEDS) results from a mutation in the gene encoding alpha-1, type III pro-collagen (COL3A1) and confers fragility to skin, ligament and vascular tissue. We tested the value of skin biopsy for diagnosis of vEDS through an ultrastructure scoring procedure. Study design was a multicentric, case-control, blinded trial consisting of two phases: phase 1 was to identify an ultra-structure score providing the best discriminative value for vEDS and phase 2 was to replicate this result in a different population. We enrolled 103 patients, 66 cases defined through the revised nosology for Ehlers-Danlos syndromes and 37 control subjects selected from patients referred for other pathologies. Ultrastructure of extracellular matrix was read by three to five experienced pathologists blinded for diagnosis. We used the receiver operating curves and logistic regression analysis for ranking ultrastructure scores. We created a detailed description of lesions observed in vEDS patients with 27 items (coded 0 or 1). In the phase 1 (17 cases and 20 controls), abnormal fibroblast shape, presence of lysosomes in the fibroblast and abnormal basal lamina were found to be independent discriminative items. Addition of these three items (defining an ultrastructure score) had the best diagnosis value (area under the curve (AUC) = 0.96). In the phase 2 (49 cases, 17 controls), ultrastructure score provided odds ratio of 9.76 (95 % CI 2.91-32.78), and AUC of 0.90. The ultrastructure score of skin biopsy has predictive value for the diagnosis of vEDS. Presence of two or more signs (either abnormal fibroblast, presence of lysosomes in the fibroblast or abnormal basal lamina) is very evocative of vEDS.

  10. 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.

  11. 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.

  12. Decision making following a prenatal diagnosis of Down syndrome: an integrative review.

    Science.gov (United States)

    Choi, Hyunkyung; Van Riper, Marcia; Thoyre, Suzanne

    2012-01-01

    Prenatal screening for Down syndrome (DS) is a routine part of prenatal care in many countries, and there is growing interest in the choices women make following a prenatal diagnosis of DS. This review describes what is known about actual and hypothetical decision making following a prenatal diagnosis of DS and adds understanding about the factors that influence women's decision making. A search of empirical studies was conducted through electronic databases, major journals, and reference lists that were published in English between January 1999 and September 2010. Inclusion criteria were that the research explored attitudes toward continuation of pregnancy or induced abortion for DS and included at least 1 variable that explored factors influencing women's decision making following a prenatal diagnosis of DS. Studies that did not specify DS, unpublished manuscripts, review articles, and book chapters were excluded. A total of 11 studies were identified that met the inclusion criteria. The decision to undergo an induced abortion varied depending on whether participants were prospective parents recruited from the general population (23%-33% would terminate), pregnant women at increased risk for having a child with DS (46%-86% would terminate), or women who received a positive diagnosis of DS during the prenatal period (89%-97% terminated). Multiple factors influence women's decision making following a diagnosis of DS, including demographic factors such as religion, maternal age, gestational age, number of existing children, and history of induced abortion. Psychosocial factors including perceived parenting burden/reward, quality of life for a child with DS, attitudes toward and comfort with individuals with disabilities, and support from others also are important influences. Multiple factors influence the decisions pregnant women make following the diagnosis of fetal DS. Therefore, it is critical that health care providers who work with pregnant women are aware of

  13. 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 ...

  14. 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.

  15. 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

  16. Diagnosis and management of the venous malformations of Klippel-Trénaunay syndrome.

    Science.gov (United States)

    Wang, S Keisin; Drucker, Natalie A; Gupta, Alok K; Marshalleck, Francis E; Dalsing, Michael C

    2017-07-01

    A dearth of information exists in the literature regarding current practice in the management of Klippel-Trénaunay syndrome (KTS), a rare condition. We review and describe the etiology, diagnosis, and treatment of KTS. Relevant data were synthesized from a Medline review using a combination of the keyterms "Klippel" and "Trénaunay." The majority of hits described singular case reports and were subsequently excluded. The remaining papers were then reviewed and included on the basis of the quality of evidence and the authors' discretion. KTS is characterized by a clinical triad of extremity varicosities, cutaneous vascular malformations, and hypertrophy of soft tissues and long bones. The diagnosis is clinically supplemented with magnetic resonance imaging and computed tomography. Although this syndrome is associated with significant comorbidities, such as pain, edema, ulcerations, and pruritus, it is rarely the cause of death. The backbone of treatment is nonoperative in nature but should be supplemented with minimally invasive, endovascular, and rarely open surgical procedures for refractory cases. Published by Elsevier Inc.

  17. Miller Fisher Syndrome: A Case Report Highlighting Heterogeneity of Clinical Features and Focused Differential Diagnosis.

    Science.gov (United States)

    Yepishin, Ilya V; Allison, Randall Z; Kaminskas, David A; Zagorski, Natalia M; Liow, Kore K

    2016-07-01

    Miller Fisher Syndrome (MFS) is a rare variant of Guillain-Barré Syndrome (GBS) that has a geographically variable incidence. It is largely a clinical diagnosis based on the cardinal clinical features of ataxia, areflexia, and opthalmoplegia, however, other neurological signs and symptoms may also be present. Serological confirmation with the anti-GQ1b antibody is available and allows for greater diagnostic certainty in the face of confounding symptoms. A self-limiting course is typical of MFS. The following case report is that of a patient who presented with generalized weakness, somatic pain, inability to walk, and diplopia following an upper respiratory illness. The patient exhibited the classic triad of ataxia, areflexia, and opthalmoplegia characteristic of MFS, but also had less typical signs and symptoms making for a more challenging diagnostic workup. Our suspected diagnosis of MFS was serologically confirmed with positive anti-GQ1b antibody titer and the patient was successfully treated with Intravenous immune globulin (IVIG).

  18. Main neuroendocrine features, diagnosis and therapeutic possibilities in the chronic fatigue syndrome, an underdiagnosed entity.

    Science.gov (United States)

    Amihăesei, Ioana Cristina; Cojocaru, Elena

    2014-01-01

    Chronic fatigue syndrome is characterized by severe, persistent fatigue which is not relieved by rest and is not associated to other medical conditions. Other common symptoms are including concentration and memory impairment, muscle and multiple joints pain, extreme exhaustion after physical or mental exertions, irritable bowel syndrome-like symptoms and depression, anxiety, mood swings and panic attacks. Etiology of the syndrome is not yet clear, post-viral and stress hypotheses were not verified. Diagnosis is confirmed in case of new onset of severe fatigue, for six consecutive months or more; fatigue is leading to significant reduction of the activity levels and is accompanied by other four or more of the specific associated symptoms, which are also lasting for six months or longer. The management of the disease is based on cognitive behavioral therapy, graded exercise therapy and pacing; medication plays a minor role in therapy. The occupational status is severely affected, more than half of the cases being unable to work. Full recovery rate is in average of about 5%.

  19. The compartment syndrome: is the intra-compartment pressure a reliable indicator for early diagnosis?

    Science.gov (United States)

    Nudel, Iftah; Dorfmann, Luis; deBotton, Gal

    2017-12-11

    Compartment syndrome (CS) occurs when the pressure in an enclosed compartment increases due to tissue swelling or internal bleeding. As the intra-compartmental pressure (ICP) builds up, the blood flow to the tissue or the organ is compromised, resulting in ischemia, necrosis and damage to the nerves and other tissues. At the present there are no established diagnostic procedures, and clinical observations such as pain, paralysis and even compartment pressure monitoring are an unreliable determinant of the presence of the syndrome. Late diagnosis may result in fasciotomy, neurological dysfunctions, amputation and even death. Focusing on the frequently occurring CS of the lower leg, this work is aimed toward introducing a coherent, mechanically motivated analysis of the disease within the framework of poroelasticity. The fascia enclosing the compartment is treated as an inextensible and impermeable layer, and the tissue inside the compartment is represented as a fully saturated poroelastic solid. The model quantitatively predicts the highly non-uniform ICP buildup as a function of both time and location. These findings, which are in good agreement with clinical observations reported in the literature, shed light on the difficulties associated with the identification of the syndrome and may assist in improved diagnostic procedures. © The authors 2016. Published by Oxford University Press on behalf of the Institute of Mathematics and its Applications. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Fernando De Maio

    2016-01-01

    Full Text Available 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.

  1. 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".

  2. Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound.

    Science.gov (United States)

    Rios, Livia T; Araujo Júnior, Edward; Caetano, Ana C R; Nardozza, Luciano M; Moron, Antonio F; Martins, Marília G

    2012-01-01

    THE EEC SYNDROME IS A GENETIC ANOMALY CHARACTERIZED BY THE TRIAD: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be made by two-dimensional ultrasonography (2DUS) that identifies the facial and/or limb anomalies, most characteristic being the "lobster-claw" hands. The three-dimensional ultrasonography (3DUS) provides a better analysis of the malformations than the 2DUS. A 25-year-old primigravida, had her first transvaginal ultrasonography that showed an unique fetus with crow-rump length of 47 mm with poorly defined hands and feet,. She was suspected of having sporadic form of EEC syndrome. The 2DUS performed at 19 weeks confirmed the EEC syndrome, showing a fetus with lobster-claw hands (absence of the 2(nd) and 3(rd) fingers), left foot with the absence of the 3rd toe and the right foot with syndactyly, and presence of cleft lip/palate. The 3DUS defined the anomalies much better than 2DUS including the lobster-claw hands.

  3. 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.

  4. 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.

  5. Autoimmune hepatitis-PBC overlap syndrome: a simplified scoring system may assist in the diagnosis.

    Science.gov (United States)

    Neuhauser, Matthias; Bjornsson, Einar; Treeprasertsuk, Sombat; Enders, Felicity; Silveira, Marina; Talwalkar, Jayant; Lindor, Keith

    2010-02-01

    Primary biliary cirrhosis (PBC) with features consistent with autoimmune hepatitis (AIH) has been described as an overlap syndrome. Recently, a simplified AIH scoring system has been proposed by the International Autoimmune Hepatitis Group (IAIHG), which is based on only four clinical components. We aimed to evaluate the performance of the new simplified AIH scoring system as a diagnostic instrument for PBC-AIH overlap syndrome compared with the revised 1999 IAIHG criteria. Furthermore, we sought to compare the outcome in PBC patients with and without the features of AIH overlap. Retrospective analysis of PBC patients was carried out. Parameters relevant to the revised criteria were recorded, and outcomes were compared between those with and without features of overlap. Of 368 patients (318 females) with a definite diagnosis of PBC, 43 (12%) were diagnosed as probable PBC-AIH overlap with the revised criteria and 23 (6%) with the simplified criteria. In both scoring systems the frequency of cirrhosis, portal hypertension, gastrointestinal (GI) bleeding, ascites, and esophageal varices was significantly higher in the overlap group at the time of follow-up. Patients with features of overlap according to the new criteria had more frequent liver-related death and liver transplantation (P=0.0025, log rank test). The simplified AIH scoring system appears to be more specific in patients with PBC and could assist in clinical assessment. Worse outcome was observed in patients with overlap features, demonstrated as increased liver-related mortality with the new criteria. The new criteria should be able to replace the revised criteria for the diagnosis of PBC-AIH overlap syndrome.

  6. [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.

  7. Usefulness of initial glucose level to improve acute coronary syndrome diagnosis in the emergency department.

    Science.gov (United States)

    Charpentier, Sandrine; Cournot, Maxime; Lauque, Dominique; Girardi, Claire; Bounes, Vincent; Elbaz, Meyer; Ducassé, Jean Louis

    2011-07-01

    The aim of the study was to analyse the incremental usefulness of high blood glucose level for non-ST elevation acute coronary syndrome (ACS) diagnosis in patients admitted to the emergency department (ED) for chest pain and suspected ACS. A post hoc analysis of a prospective, observational study of 11 months duration was carried out. Initial glucose levels were analysed in 672 consecutive patients admitted to the ED with chest pain and suspected non-ST elevation ACS. A cut-off glucose level (>140 mg/dl) for high glucose level diagnosis was defined. Based on hospital diagnostic test results, patients were classified as having non-ST elevation ACS by two independent physicians. The association and performance of high glucose level for ACS diagnosis were studied by univariate and multivariate analysis and receiver operator characteristic (ROC) curves. Out of the 672 eligible patients who were recruited, 181 (26.9%) had a confirmed non-ST elevation ACS. The independent factors associated with a diagnosis of ACS were age, previous coronary artery disease, hyperlipidaemia, smoking status and glucose level >140 mg/dl (OR 1.98 95% CI 1.14 to 3.45). In addition to a predictive model that included the usual diagnostic tools for non-ST elevation ACS management, a glucose level >140 mg/dl added significant incremental information (p=0.03). However, the addition of blood glucose level >140 mg/dl to the conventional diagnostic tool resulted in small increases in the ability to classify ACS, as measured by the c-statistic (0.82, 95% CI 0.79 to 0.85). An initial serum glucose level >140 mg/dl is associated with non-ST elevation ACS in patients admitted to an ED for chest pain but added moderately to conventional tools used for ACS diagnosis. NCT00714298.

  8. 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.

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

    Science.gov (United States)

    Abdel Ghaffar, Tawhida Y; Elsobky, Ezzat S; Elsayed, Solaf M

    2011-04-08

    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. To highlight the presence of cholestasis and liver dysfunction in this group of patients and to suggest modified criteria for clinical diagnosis. 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. 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. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. 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.

  12. 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.)

  13. 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.

  14. 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.

  15. Anti-MOG antibodies plead against MS diagnosis in an Acquired Demyelinating Syndromes cohort.

    Science.gov (United States)

    Ketelslegers, Immy A; Van Pelt, Daniëlle E; Bryde, Susanne; Neuteboom, Rinze F; Catsman-Berrevoets, Coriene E; Hamann, Dörte; Hintzen, Rogier Q

    2015-10-01

    Acquired demyelinating syndromes (ADS) in children are a group of distinct first immune-mediated demyelinating events of the central nervous system (CNS). Predictive biomarkers for future diagnosis are lacking. A putative target antigen is myelin oligodendrocyte glycoprotein (MOG). We analyzed the presence of MOG antibodies in a cohort of ADS patients in The Netherlands. Using a cell-based assay, we analyzed 117 children with ADS from a nationwide cohort, whom were divided into five groups: optic neuritis (ON; n = 20), transverse myelitis (TM; n = 7), other monofocal ADS (n = 22), polyfocal ADS without encephalopathy (n = 44) and polyfocal ADS with encephalopathy (n = 24). Additionally, we tested children with other neurological diseases (OND; n = 13), healthy children (n = 31) and adult polyfocal ADS plus encephalopathy (ADEM) patients (n = 29). We found that 21 of the 117 children with ADS tested anti-MOG seropositive (18%). The group of patients with ADEM had the highest prevalence of anti-MOG seropositivity (42% versus 18% in the non-encephalopathic polyfocal ADS patients). Although 47 ADS children had a final diagnosis of multiple sclerosis (MS), in only one of them were MOG antibodies detected (2%), with only borderline positivity. Only 1 out of the 29 adult ADEM patients tested anti-MOG seropositive. MOG antibodies are strongly skewed towards ADS children that present with an ADEM-like disease onset. The presence of such antibodies pleads against a future diagnosis of MS. © The Author(s), 2015.

  16. Psychiatric Symptoms in Patients with Cushing's Syndrome: Prevalence, Diagnosis and Management.

    Science.gov (United States)

    Santos, Alicia; Resmini, Eugenia; Pascual, Juan Carlos; Crespo, Iris; Webb, Susan M

    2017-05-01

    Cushing's syndrome (CS) results from chronic exposure to cortisol excess, produced by the adrenal cortex. Hypercortisolism predisposes to psychiatric and neurocognitive disorders, mainly to depression and anxiety disorders. Screening tools to identify psychiatric symptoms are available for clinicians in their daily practice, although a specific diagnosis should be performed by specialists. Even if psychiatric symptoms improve after remission of hypercortisolism, complete recovery may not be achieved. Given the burden of these symptoms, psychiatric or psychological monitoring and treatment should be offered through all phases of CS, with a multidisciplinary approach. The aim of this article is to review data on the prevalence, diagnosis and management of psychiatric symptoms seen in patients with CS and to propose therapeutic approaches that may be followed in clinical practice. The prevalence of different psychiatric disorders has been described in both the active phase and after CS remission. Patients may not talk spontaneously about psychiatric symptoms they present, thus clinicians should ask directly about them. We recommend the use of screening tools in clinical practice to detect and treat these symptoms promptly. Even if reference endocrinologists cannot perform a definite psychiatric diagnosis, it will be important to ask patients directly about the presence of symptoms and refer if necessary to a psychiatrist. Additionally, patient information and educational programmes could be useful to manage psychiatric symptoms and to improve quality of life in patients with CS.

  17. [Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome : interdisciplinary diagnosis and therapy].

    Science.gov (United States)

    Wabbels, B; Ali, N; Kunz, W S; Roggenkämper, P; Kornblum, C

    2008-06-01

    The main symptom of chronic progressive external ophthalmoplegia (CPEO) and Kearns-Sayre syndrome (KSS) are upper eyelid ptosis and a slowly progressive weakness of the extraocular muscles. Mitochondrial disorders are much more frequent than previously assumed. Because of great phenotypic variability, early diagnosis may prove to be difficult. Retrospective analysis of 30 patients with CPEO or KSS with regard to ophthalmological and neurological findings as well as molecular genetic background. Twenty-seven patients presented with upper eyelid ptosis as the first clinical symptom. In 11 of these patients, ptosis was either unilateral or asymmetric. External ophthalmoplegia was present in only three patients initially; however, it developed in 27 patients in the later course of the disease. Diplopia was found to be more frequent than previously assumed. Twenty-six patients showed characteristic histological hallmarks in skeletal muscle biopsy. In 22 patients, molecular genetic testing revealed mitochondrial DNA mutations. Mitochondrial disorders should be included in the early differential diagnosis of patients with etiologically unclear acquired isolated unilateral or bilateral ptosis, atypical eye movement disorders, or diplopia. A correct diagnosis is mandatory for qualified counseling and the management of potentially life-threatening complications, such as cardiac involvement.

  18. 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.

  19. Diagnosis of autism spectrum disorder: reconciling the syndrome, its diverse origins, and variation in expression.

    Science.gov (United States)

    Constantino, John N; Charman, Tony

    2016-03-01

    Recent discoveries about the pathogenesis and symptom structure of autism spectrum disorders (ASDs) are challenging traditional nosology and driving efforts to reconceptualise the diagnosis of autism, a goal made all the more pressing by new prospects for early identification, targeted intervention, and personalised-medicine approaches to specific autistic syndromes. Recognition that ASD represents the severe end of a continuous distribution of social communication abilities in the general population has stimulated attempts to standardise the measurement of autistic traits and to set appropriate clinical thresholds for diagnosis. Over the next decade, rapid advances in our understanding of symptom structure and the diversity of causes of ASD could be incorporated into the next evolution in the diagnosis of autism, with important implications for research, clinical practice, public health, and policy. As differential effects of personalised therapies are identified in relation to specific causes of autism, the benefits of an updated diagnostic nosology will translate into the delivery of more effective care for patients. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. The serial use of two provocative tests in the clinical diagnosis of carpal tunel syndrome.

    Science.gov (United States)

    Fertl, E; Wöber, C; Zeitlhofer, J

    1998-11-01

    1) To examine the diagnostic value of the newly proposed manual carpal compression test (mCCT). 2) To evaluate the test efficacy of a serial use of mCCT and Phalen's test (PT) in the clinical diagnosis of carpal tunnel syndrome (CTS) in comparison with standard nerve conduction studies. Prospective, controlled study of 47 patients with 63 symptomatic CTS hands according to clinical as well as electrophysiological criteria. In the control group, 39 hands of 20 healthy volunteers were examined. Clinical neurological examination including mCCT and PT and standard nerve conduction studies were always performed: sensory nerve conduction velocity third and fifth digit to wrist, median distal motor latency. Calculation of sensitivity, specificity, positive and negative predictive value for the mCCT, PT and mCCT+PT, i.e. at least one of both tests positive after sequential application. Sensitivity 83% for mCCT, 79% for PT and 92% for mCCT+PT. Specificity 92% for all three conditions. Excellent positive predictive value of 95% and good negative predictive value of 88% for mCCT+PT. The serial application of mCCT and PT is very useful in the clinical diagnosis of CTS. This finding facilitates the clinical diagnosis by the primary physician, it helps to improve referral decisions to electrophysiological departments and other ancillary examinations and may reduce costs.

  1. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management.

    Science.gov (United States)

    Richards, Michael D; Wong, Agnes

    2015-12-01

    Infantile nystagmus syndrome (INS) is an important clinical diagnosis because it is a common presenting sign of many ocular, neurologic, and systemic diseases. Although INS has been studied for more than a century, its diagnosis and treatment remains a challenge to clinicians because of its varied manifestations and multiple associations, and its pathogenesis continues to rouse considerable scientific debate. Fueled by these challenges, recent basic research and clinical investigations have provided new insights into INS. New genetic discoveries and technological advances in ocular imaging have refined our understanding of INS subtypes and offer new diagnostic possibilities. Unexpected surgical outcomes have led to new understanding of its pathogenesis based on novel hypothesized pathways of ocular motor control. Comparative studies on nonhuman visual systems have also informed models of the neural substrate of INS in humans. This review brings together the classic profile of this disorder with recent research to provide an update on the clinical features of INS, an overview of the current theories on how and why INS develops, and a practical approach to the diagnosis and management of INS. Copyright © 2015 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.

  2. 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.

  3. Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

    Directory of Open Access Journals (Sweden)

    Dong-Jun Xing

    Full Text Available Bardet-Biedl syndrome (BBS is an autosomal recessive disorder with significant genetic heterogeneity. BBS is linked to mutations in 17 genes, which contain more than 200 coding exons. Currently, BBS is diagnosed by direct DNA sequencing for mutations in these genes, which because of the large genomic screening region is both time-consuming and expensive. In order to develop a practical method for the clinic diagnosis of BBS, we have developed a high-throughput targeted exome sequencing (TES for genetic diagnosis. Five typical BBS patients were recruited and screened for mutations in a total of 144 known genes responsible for inherited retinal diseases, a hallmark symptom of BBS. The genomic DNA of these patients and their families were subjected to high-throughput DNA re-sequencing. Deep bioinformatics analysis was carried out to filter the massive sequencing data, which were further confirmed through co-segregation analysis. TES successfully revealed mutations in BBS genes in each patient and family member. Six pathological mutations, including five novel mutations, were revealed in the genes BBS2, MKKS, ARL6, MKS1. This study represents the first report of targeted exome sequencing in BBS patients and demonstrates that high-throughput TES is an accurate and rapid method for the genetic diagnosis of BBS.

  4. The Optimal Cut-Off Value of Blood Stasis Syndrome Score in BSS Diagnosis in Korea

    Directory of Open Access Journals (Sweden)

    Byoung-Kab Kang

    2017-01-01

    Full Text Available Objective. In the traditional oriental medicine, it is sometimes difficult to diagnose Blood Stasis Syndrome (BSS in patients, because the diagnosis of BSS is based on the subjective signs and symptoms of patients. This study is aimed at developing the prediction tool of BSS using cut-off value for BSS score. The identification of a cut-off value for BSS score to diagnose BSS would be helpful. Methods. A total of 887 patients admitted to six traditional Korean medical hospitals in 2013 and three hospitals in 2014. All patients have an identical pattern as a result of diagnostic decision of two experts. The cut-off value for BSS score for BSS diagnosis was determined by the receiver-operating characteristic curve. Results. The area under the curve of this curve was 0.897. The optimal cut-off point for detection of BSS was 49.0. The sensitivity and specificity of this cut-off value were 80.8% and 83.2% in modelling data (2013 dataset and 84.6% and 83.1% in validation data (2014 dataset, respectively. Conclusion. Our study suggests that a BSS score cut-off value of 49.0 can be used to detect BSS in the traditional Korean medical hospitals. This cut-off value for diagnosis of BSS will make up the lack of objectivity.

  5. [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).

  6. 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

  7. 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

  8. 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

  9. 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

  10. Diagnosis of fetal alcohol spectrum disorders: a validity study of the fetal alcohol syndrome checklist.

    Science.gov (United States)

    Burd, Larry; Klug, Marilyn G; Li, Qing; Kerbeshian, Jacob; Martsolf, John T

    2010-01-01

    Fetal alcohol spectrum disorders (FASD) are a common cause of developmental disability, birth defects, and mortality. The performance characteristics of current diagnostic tools for FASD are not adequately reported. This study examines the performance characteristics of the Fetal Alcohol Syndrome Diagnostic Checklist (FASDC). In a population of 658 subjects from North Dakota, we used the FASDC score to examine the agreement between FASDC score, clinical diagnosis, and the Institute of Medicine criteria for FASD. All subjects were seen for evaluation in the genetic/dysmorphology clinics, which are funded by the state to provide genetic diagnostic services for residents of North Dakota. We compared the clinical diagnosis and the FASDC scores to determine the performance characteristics of the FASDC in the categorical diagnosis of fetal alcohol spectrum (FAS), other-FASD, and a group with No-FASD. Comparisons were made using univariate and logistic models of outcomes using both the presence and the absence of alcohol exposure or FASDC phenotype data. The FASDC performance characteristics for differentiation of the FAS group from non-FASD were excellent (accuracy 99%, sensitivity 99%, and specificity 99%). Logistic models for subjects with scores in the FASD range were differentiated with an accuracy of 82%, sensitivity 85%, and specificity 80% using the data on phenotype and exposure. We were able to delineate subjects with scores in the No-FASD range with an accuracy of 78%, sensitivity 64%, and specificity 81% without including the exposure and phenotype data by use of the other descriptive data (maternal characteristics, birth records, and demographic data) from the FASDC. All diagnostic tools should have performance characteristics assessed and available before adoption for use in clinical settings. The FASDC scores produce diagnostic groupings that approximate expert clinical judgment. The tool may be useful in other clinical settings for the diagnosis of FASD or

  11. The increasing application of multiplex nucleic acid detection tests to the diagnosis of syndromic infections.

    Science.gov (United States)

    Gray, J; Coupland, L J

    2014-01-01

    On 14 January 2013, the US Food and Drug Administration (FDA) announced permission for a multiplex nucleic acid test, the xTAG® Gastrointestinal Pathogen Panel (GPP) (Luminex Corporation, USA), which simultaneously detects 11 common viral, bacterial and parasitic causes of infectious gastroenteritis, to be marketed in the USA. This announcement reflects the current move towards the development and commercialization of detection technologies based on nucleic acid amplification techniques for diagnosis of syndromic infections. We discuss the limitations and advantages of nucleic acid amplification techniques and the recent advances in Conformité Européene - in-vitro diagnostic (CE-IVD)-approved multiplex real-time PCR kits for the simultaneous detection of multiple targets within the clinical diagnostics market.

  12. Do not overlook Weismann-Netter syndrome in differential diagnosis of skeletal dysplasias.

    Science.gov (United States)

    Caksen, H; Kurtoğlu, S

    2004-01-01

    Weismann-Netter syndrome (WNS), a rare condition, is characterized by an anterior curvature of the bones of the lower limbs, usually bilateral and symmetrical. It was first described in 1954 by Weismann-Netter and Stuhl. We report a 2-year-old girl with typical findings of WNS who was misdiagnosed as having rickets. Our purpose is to draw attention to the WNS in the differential diagnosis of skeletal dysplasias. We think that the true incidence of WNS is probably higher than previously reported; therefore, we would like to emphasize that WNS should be considered in patients who have bowed lower extremities and have been diagnosed as having syphilis or healed rickets.

  13. Automated diagnosis of fetal alcohol syndrome using 3D facial image analysis.

    Science.gov (United States)

    Fang, S; McLaughlin, J; Fang, J; Huang, J; Autti-Rämö, I; Fagerlund, A; Jacobson, S W; Robinson, L K; Hoyme, H E; Mattson, S N; Riley, E; Zhou, F; Ward, R; Moore, E S; Foroud, T

    2008-08-01

    Use three-dimensional (3D) facial laser scanned images from children with fetal alcohol syndrome (FAS) and controls to develop an automated diagnosis technique that can reliably and accurately identify individuals prenatally exposed to alcohol. A detailed dysmorphology evaluation, history of prenatal alcohol exposure, and 3D facial laser scans were obtained from 149 individuals (86 FAS; 63 Control) recruited from two study sites (Cape Town, South Africa and Helsinki, Finland). Computer graphics, machine learning, and pattern recognition techniques were used to automatically identify a set of facial features that best discriminated individuals with FAS from controls in each sample. An automated feature detection and analysis technique was developed and applied to the two study populations. A unique set of facial regions and features were identified for each population that accurately discriminated FAS and control faces without any human intervention. Our results demonstrate that computer algorithms can be used to automatically detect facial features that can discriminate FAS and control faces.

  14. 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

    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...... the Schwartz formula, and only patients with normal values were included. RESULTS: A total of 14 children were examined, 13 (93%) had 25(OH)D deficiency including 12 (86%) with moderate or severe vitamin D deficiency. The plasma 25(OH)D was positively associated with plasma albumin (p = 0.031) and negatively...... (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...

  15. Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage

    Science.gov (United States)

    Alam, Areej; Adhi, Mehreen; Bano, Raffat; Zubair, Aisha; Mushtaq, Ammara

    2013-01-01

    Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (LSCS) & leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage. PMID:24353549

  16. 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.

  17. Blood-brain barrier breakdown in reversible cerebral vasoconstriction syndrome: Implications for pathophysiology and diagnosis.

    Science.gov (United States)

    Lee, Mi Ji; Cha, Jihoon; Choi, Hyun Ah; Woo, Sook-Young; Kim, Seonwoo; Wang, Shuu-Jiun; Chung, Chin-Sang

    2017-03-01

    Diagnosis of reversible cerebral vasoconstriction syndrome (RCVS) is currently based on luminographic findings of vasoconstriction. In addition to vasoconstriction, the blood-brain barrier (BBB) breakdown has been postulated as a central mechanism of RCVS. Our aim was to document BBB breakdown in patients with RCVS and its role for the pathophysiology-based diagnosis of RCVS. We prospectively recruited 72 consecutive patients with thunderclap headache who did not have aneurysmal subarachnoid hemorrhage from April 2015 to July 2016 at the Samsung Medical Center. Based on the International Classification of Headache Disorders-3 beta criteria and neuroimaging, patients were classified as having RCVS (n = 41; "definite" in 29 imaging-proven patients and "probable" in 12 imaging-negative patients), other secondary causes (n = 7), and thunderclap headache of undetermined cause (n = 24). BBB breakdown was evaluated using contrast-enhanced fluid-attenuated inversion recovery magnetic resonance imaging. BBB breakdown was documented in 20 (69.0%) patients with definite RCVS, 3 (25.0%) patients with probable RCVS, and none with other secondary causes. BBB breakdown was present in RCVS patients with (n = 4) and without (n = 19) concomitant posterior reversible encephalopathy syndrome. In patients with RCVS, the extent of BBB breakdown was independently associated with neurological complications (multivariate odds ratio = 1.48 per 1 territorial increase, 95% confidence interval = 1.04-2.12, adjusted p = 0.032). Three (12.5%) patients with thunderclap headache of undetermined cause were newly classified as having RCVS by the presence of BBB breakdown. This is the first study to show BBB breakdown in patients with RCVS. This finding might broaden our understanding of the pathophysiology and clinical spectrum of RCVS. Ann Neurol 2017;81:454-466. © 2017 American Neurological Association.

  18. 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.

  19. Reviewing primary Sjögren's syndrome: beyond the dryness - From pathophysiology to diagnosis and treatment.

    Science.gov (United States)

    Both, Tim; Dalm, Virgil A S H; van Hagen, P Martin; van Daele, Paul L A

    2017-01-01

    Primary Sjögren's syndrome (pSS) is a systemic autoimmune disease, characterized by lymphocytic infiltration of the secretory glands. This process leads to sicca syndrome, which is the combination of dryness of the eyes, oral cavity, pharynx, larynx and/or vagina. Extraglandular manifestations may also be prevalent in patients with pSS, including cutaneous, musculoskeletal, pulmonary, renal, hematological and neurological involvement. The pathogenesis of pSS is currently not well understood, but increased activation of B cells followed by immune complex formation and autoantibody production are thought to play important roles. pSS is diagnosed using the American-European consensus group (AECG) classification criteria which include subjective symptoms and objective tests such as histopathology and serology. The treatment of pSS warrants an organ based approach, for which local treatment (teardrops, moistures) and systemic therapy (including non-steroidal anti-inflammatory drugs (NSAIDs), glucocorticoids, disease-modifying antirheumatic drugs (DMARDS) and biologicals) can be considered. Biologicals used in the treatment of pSS mainly affect the total numbers of B cells (B cell depletion (Rituximab)) or target proteins required for B cell proliferation and/or activation (e.g. B cell activating factor (BAFF)) resulting in decreased B cell activity. The aim of this review is to provide physicians a general overview concerning the pathogenesis, diagnosis and management of pSS patients.

  20. Chronic compartment syndrome of the quadriceps femoris muscle in athletes. Diagnosis, imaging and treatment with fasciotomy.

    Science.gov (United States)

    Orava, S; Laakko, E; Mattila, K; Mäkinen, L; Rantanen, J; Kujala, U M

    1998-01-01

    Chronic quadriceps femoris muscle compartment syndrome is described. Over a 13 year period nine patients were diagnosed, treated surgically by fasciotomy and followed up at a referral center specialized in sports traumatology. There were four power lifters, three body builders, one endurance walker and one cyclist in the series. The use of anabolic steroids was admitted by four of the nine patients. The patients complained of gradually worsening pain on the anterolateral side of the thigh during training. Initially the pain appeared only at the end of the training session. As the syndrome became more severe, the pain began earlier during exercise and gradually became worse preventing maximal training. Skeletal radiographs and ultrasound examinations were normal, except in two patients, who had a positive echography finding with local atrophy. MRI examination confirmed the US diagnosis. As conservative treatment did not provide relief of symptoms, a fasciotomy anterior to the iliotibial tract was performed bilaterally to seven patients and unilaterally to two patients. Biopsies from the atrophied sites showed muscle cell necrosis. All the patients recovered well after the surgery and were able return to their original level of sport. The only complication of surgery was a postoperative hematoma in one patient, which delayed the beginning of the training, but did not result in any persistent complaints.

  1. Psychiatric comorbidity in young adults with a clinical diagnosis of Asperger syndrome.

    Science.gov (United States)

    Lugnegård, Tove; Hallerbäck, Maria Unenge; Gillberg, Christopher

    2011-01-01

    In children with autism spectrum disorders, previous studies have shown high rates of psychiatric comorbidity. To date, studies on adults have been scarce. The aim of the present study was to investigate psychiatric comorbidity in young adults with Asperger syndrome. Participants were 26 men and 28 women (mean age 27 years) with a clinical diagnosis of Asperger syndrome. Psychiatric comorbidity was assessed by the Structured Clinical Interview for DSM-IV Axis I Disorders. IQ was measured using the Wechsler Adult Intelligence Scale, Third Edition. Autism spectrum diagnoses were confirmed using the DIagnostic Interview for Social and Communication Disorders. In our study group, 70% had experienced at least one episode of major depression, and 50% had suffered from recurrent depressive episodes. Anxiety disorders were seen in about 50%. Psychotic disorders and substance-induced disorders were uncommon. In conclusion, young adults with autism spectrum disorders are at high risk for mood and anxiety disorders. To identify these conditions and offer treatment, elevated vigilance is needed in clinical practice. Copyright © 2011 Elsevier Ltd. All rights reserved.

  2. Gastroduodenal artery steal syndrome during liver transplantation: intraoperative diagnosis with Doppler ultrasound and management.

    Science.gov (United States)

    Nishida, Seigo; Kadono, Jun; DeFaria, Werviston; Levi, David M; Moon, Jang I; Tzakis, Andreas G; Madariaga, Juan R

    2005-03-01

    Arterial steal syndrome (ASS) after liver transplantation has been reported. ASS causes arterial hypo-perfusion of the graft liver and devastating consequences. However, the diagnosis tends to be delayed. We present the recognized case of a gastroduodenal artery (GDA) steal syndrome that was diagnosed with intraoperative Doppler ultrasound and treated with GDA ligation during the liver transplantation. The patient had variation of hepatic artery anatomy (low bifurcation of the hepatic artery). Graft liver had the common hepatic artery and aberrant left hepatic artery. Doppler ultrasound of the liver was performed after the arterial reconstruction between the donor common hepatic artery and recipient right hepatic artery. It showed low hepatic arterial flow. There is no backflow bleeding from the donor aberrant left hepatic artery stump. After ligating big GDA, hepatic arterial waveform inside the liver drastically improved and strong backflow bleeding was recognized from the donor left aberrant hepatic artery stump. The current case should show the efficacy of intraoperative Doppler ultrasound of the liver on ASS and alert clinician to ligate GDA to prevent ASS if hepatic arterial flows are suboptimal.

  3. Laboratory diagnosis of infectious diarrhoea syndrome; a three years study in two hospitals of infectious diseases.

    Science.gov (United States)

    Damian, Maria; Tatu-Chiţoiu, Dorina; Usein, Codruţa-Romaniţa; Oprişan, Gabriela; Palade, Andi-Marian; Dinu, Sorin; Szmal, Camelia; Ciontea, Simona Adriana; Ceciu, Stefania; Condei, Maria; Persu, Ana; Baicuş, Anda; Pop, Mariana; Neagoe, Ionela; Steriu, Dan; Codreanu, Radu; Graur, Marian; Cretu, Michaela Carmen; Cilievici, Suzana; Nica, Maria; Ecovoiu, Alexandru; Gavrili, Lucian

    2009-01-01

    Infectious diarrhoea is a syndrome caused by a variety of bacterial, viral and parasitic organisms which represents a major cause of morbidity and mortality all over the world. The wide diversity of etiological agents impairs the surveillance and the diagnosis and affects the correct treatment applied to reduce the long-term complications. Besides well known enteric pathogens such as Salmonella, Shigella and Yersinia, a high number of emergent and re-emergent aetiologies are now recognised to be at the origin of diarrhoea. The lack of a correct diagnostic algorithm and adequate methods of analyses leads to under-evaluation and incertitude in an important number of clinical cases. Our study was designed as a complex analysis of the stool specimens collected from the patients, in the purpose to improve the laboratory diagnostic and to enhance the number of confirmed cases of infectious diarrhoea. A number of 756 samples from inpatients with diarrhoea were tested targeting pathogenic and opportunistic bacteria, viruses and parasites by classical and molecular methods. We documented that, in case of non-Salmonella, non-Shigella, non-Yersinia diarrhoea, the quality of diagnostic was improved by increasing the percentage of positive specimens to 22.49% compared to 11.12% when only bacteria, 5.56% when only viruses and 4.10% when only parasites were investigated. The laboratory data are of great value in evaluating the diarrhoea syndrome offering the documentation for an accurate epidemiological response and an adequate treatment.

  4. 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

  5. Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management

    Directory of Open Access Journals (Sweden)

    Mantelli F

    2016-05-01

    Full Text Available Flavio Mantelli,1 Alice Bruscolini,2 Maurizio La Cava,2 Solmaz Abdolrahimzadeh,2 Alessandro Lambiase2 1Department of Biology, College of Science and Technology, Temple University, Philadelphia, PA, USA; 2Department of Sense Organs, Section of Ophthalmology, University of Rome “Sapienza”, Rome, Italy Abstract: Sturge–Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic vasculature distribution in this area, leads to several ocular complications of the anterior segment and can involve the eyelids and conjunctiva. The posterior segment of the eyes is also affected with diffuse choroidal hemangiomas. However, the most frequent ocular comorbidity is glaucoma with a prevalence rate ranging from 30%–70%. Glaucoma is related to anterior chamber malformations, high episcleral venous pressure (EVP, and changes in ocular hemodynamics. Glaucoma can be diagnosed at birth, but the disease can also develop during childhood and in adults. The management of glaucoma in Sturge–Weber syndrome patients is particularly challenging because of early onset, frequently associated severe visual field impairment at the time of diagnosis, and unresponsiveness to standard treatment. Several surgical approaches have been proposed, but long-term prognosis for both intraocular pressure control and visual function remains unsatisfactory in these patients. Choroidal hemangiomas may also lead to visual impairment thorough exudative retinal detachment and macular edema. Treatment of exudative hemangioma complications is aimed at destructing the tumor or decreasing tumor leakage. Keywords: Sturge–Weber syndrome, glaucoma, choroidal hemangiomas, port-wine stain, congenital disease, glaucoma surgery

  6. Identification of marker genes for differential diagnosis of chronic fatigue syndrome.

    Science.gov (United States)

    Saiki, Takuya; Kawai, Tomoko; Morita, Kyoko; Ohta, Masayuki; Saito, Toshiro; Rokutan, Kazuhito; Ban, Nobutaro

    2008-01-01

    Chronic fatigue syndrome (CFS) is a clinically defined condition characterized by long-lasting disabling fatigue. Because of the unknown mechanism underlying this syndrome, there still is no specific biomarker for objective assessment of the pathological fatigue. We have compared gene expression profiles in peripheral blood between 11 drug-free patients with CFS and age- and sex-matched healthy subjects using a custom microarray carrying complementary DNA probes for 1,467 stress-responsive genes. We identified 12 genes whose mRNA levels were changed significantly in CFS patients. Of these 12 genes, quantitative real-time PCR validated the changes in 9 genes encoding granzyme in activated T or natural killer cells (GZMA), energy regulators (ATP5J2, COX5B, and DBI), proteasome subunits (PSMA3 and PSMA4), putative protein kinase c inhibitor (HINT ), GTPase (ARHC), and signal transducers and activators of transcription 5A (STAT5A). Next, we performed the same microarray analysis on 3 additional CFS patients and 20 other patients with the chief complaint of long-lasting fatigue related to other disorders (non-CFS patients) and found that the relative mRNA expression of 9 genes classified 79% (11/14) of CFS and 85% (17/20) of the non-CFS patients. Finally, real-time PCR measurements of the levels of the 9 involved mRNAs were done in another group of 18 CFS and 12 non-CFS patients. The expression pattern correctly classified 94% (17/18) of CFS and 92% (11/12) of non-CFS patients. Our results suggest that the defined gene cluster (9 genes) may be useful for detecting pathological responses in CFS patients and for differential diagnosis of this syndrome.

  7. 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.

  8. Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

    Science.gov (United States)

    Ziegler, Alban; Loundon, Natalie; Jonard, Laurence; Cavé, Hélène; Baujat, Geneviève; Gherbi, Souad; Couloigner, Vincent; Marlin, Sandrine

    2017-09-01

    To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. New clinical cases and review. Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. Diagnostic and review of the literature. Five patients presented with profound sensorineural hearing impairment and molecularly confirmed Noonan syndrome. Sensorineural hearing impairment has been progressive for three patients. Cardiac echography identified pulmonary stenosis in two patients and was normal for the three other patients. Short stature was found in two patients. Mild intellectual disability was found in one patient. Inconspicuous clinical features as facial dysmorphism, cryptorchidism, or easy bruising were of peculiar interest to reach the diagnosis of Noonan syndrome. Profound sensorineural hearing impairment can be the main feature of Noonan syndrome. Associated features are highly variable; thus, detailed medical history and careful physical examination are mandatory to consider the diagnosis in case of a sensorineural hearing impairment.

  9. "How Can a Chord Be Weird if It Expresses Your Soul?" Some Critical Reflections on the Diagnosis of Aspergers Syndrome

    Science.gov (United States)

    Moloney, Paul

    2010-01-01

    This paper questions the way in which the diagnosis of Aspergers syndrome has come to be widely accepted and used as an essentially medical category. It does so by drawing upon sociological and historical analyses of society, psychiatry and psychology, as well as the writings of service users, other practitioners in the autistic spectrum disorder…

  10. 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…

  11. FDG-PET/CT as a New Method for Diagnosis and Whole-Body Evaluation of Lemierre Syndrome

    NARCIS (Netherlands)

    Pijl, Jordy P; Glaudemans, Andor W J M; Slart, Riemer H J A; Kwee, Thomas C

    Lemierre syndrome is a rare disease that is defined by a pharyngeal infection, complicated by septicemia and internal jugular vein thrombosis followed by septic emboli. Because of its rarity, a delay in diagnosis is not uncommon. However, given the mortality rate of approximately 2%, prompt

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

    Directory of Open Access Journals (Sweden)

    Loreta Ungureanu

    2012-09-01

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

  13. [Usefulness of cephalometry and pharyngeal findings in the primary diagnosis of obstructive sleep apnea syndrome].

    Science.gov (United States)

    Kitamura, Takuro; Sakabe, Akiko; Ueda, Narihisa; Shiomori, Teruo; Udaka, Tsuyoshi; Ohbuchi, Toyoaki; Suzuki, Hideaki

    2008-11-01

    We studied the usefulness of cephalometry and pharyngeal findings in determining efficient primary diagnosis of obstructive sleep apnea syndrome (OSAS). Subjects were 171 adult men with sleep-disordered breathing, who underwent cephalometry and polysomnography (PSG) and had pharyngeal findings evaluated by modified Mallampati grade (MMP) and palatine tonsil size. An apnea-hypopnea index (AHI) of > or = 15 in PSG was considered to indicate OSAS. We analyzed the correlation between AHI and other parameters and conducted stepwise multiple regression analysis to predict AHI, and studied the screening performance of prediction equations using a receiver operating characteristic (ROC) curve. Of the 8 cephalometric parameters examined, the length of the soft palate (PNS-P; p = 0.011) and the distance from the mandibular plane to the hyoid bone (MP-H; p (a) > (b). Sensitivity and of equation (c) with a cutoff of 15 were 0.95 and specificity 0.25. These results indicate that both cephalometric parameters and pharyngeal indices should be included in conducting an efficient primary diagnosis for OSAS.

  14. Insertion sequences shared by Bordetella species and implications for the biological diagnosis of pertussis syndrome.

    Science.gov (United States)

    Tizolova, A; Guiso, N; Guillot, S

    2013-01-01

    The molecular diagnosis of pertussis and parapertussis syndromes is based on the detection of insertion sequences (IS) 481 and 1001, respectively. However, these IS are also detected in the genomes of various Bordetella species, such that they are not specific for either B. pertussis or B. parapertussis. Therefore, we screened the genome of recently circulating isolates of Bordetella species to compare the prevalence of IS481, IS1001 and, also IS1002 with previously published data and to sequence all IS detected. We also investigated whether the numbers of IS481 and IS1001 copies vary in recently circulating isolates of the different Bordetella species. We used the polymerase chain reaction (PCR) method for screening the genome of circulating isolates and to prepare the fragments for sequencing. We used Southern blotting and quantitative real-time PCR for quantification of the numbers of IS. We found no significant diversity in the sequences of the IS harboured in the genomes of the Bordetella isolates screened, except for a 71-nucleotide deletion from IS1002 in B. bronchiseptica. The IS copy numbers in the genome of recently circulating isolates were similar to those in reference strains. Our results confirm that biological diagnosis targeting the IS481 and IS1001 elements are not specific and detect the species B. pertussis, B. holmesii and B. bronchiseptica (IS481), and B. parapertussis and B. bronchiseptica (IS1001).

  15. Inter-hemispheric Intrinsic Connectivity as a Neuromarker for the Diagnosis of Boys with Tourette Syndrome.

    Science.gov (United States)

    Liao, Wei; Yu, Yang; Miao, Huan-Huan; Feng, Yi-Xuan; Ji, Gong-Jun; Feng, Jian-Hua

    2017-05-01

    Tourette syndrome (TS) is associated with gross morphological changes in the corpus callosum, suggesting deficits in inter-hemispheric coordination. The present study sought to identify changes in inter-hemispheric functional and anatomical connectivity in boys with "pure" TS as well as their potential value for clinical diagnosis. TS boys without comorbidity (pure TS, n = 24) were selected from a large dataset and compared to age- and education-matched controls (n = 32). Intrinsic functional connectivity (iFC) between bilateral homotopic voxels was computed and compared between groups. Abnormal iFC was found in the bilateral prefronto-striatum-midbrain networks as well as bilateral sensorimotor and temporal cortices. The iFC between the bilateral anterior cingulate cortex (ACC) was negatively correlated with symptom severity. Anatomical connectivity strengths between functionally abnormal regions were estimated by diffusion probabilistic tractography, but no significant between-group difference was found. To test the clinical applicability of these neuroimaging findings, multivariate pattern analysis was used to develop a classification model in half of the total sample. The classification model exhibited excellent classification power for discriminating TS patients from controls in the other half samples. In summary, our findings emphasize the role of inter-hemispheric communication deficits in the pathophysiology of TS and suggest that iFC is a potential quantitative neuromarker for clinical diagnosis.

  16. The Role of Wrist Magnetic Resonance Imaging in the Differential Diagnosis of the Carpal Tunnel Syndrome.

    Science.gov (United States)

    Onen, Mehmet Resid; Kayalar, Ali Erhan; Ilbas, Elif Nurbegum; Gokcan, Recai; Gulec, Ilker; Naderi, Sait

    2015-01-01

    The carpal tunnel syndrome (CTS) is the commonest compressive neuropathy. Electromyography (EMG) is accepted as gold standard in diagnosis of CTS. However, pathologies and variations that are associated with a various findings may lead to failure. Magnetic resonance Imaging (MRI) was applied to 69 wrists of 55 patients, who received a diagnosis of CTS by means of clinical and electrodiagnostic testing (EDT) during the years 2011 and 2013. We detected a total of 71 additional pathologies in MRI analyses: 29 degenerative bone cysts, 28 ganglion cysts, 8 tenosynovitis, and 6 avascular necroses. While the MRI detected 44 (59.5%) additional radiological pathologies in 39 wrists diagnosed with mid-level CTS by means of EMG, the number of detected additional pathologies was 27 (36.5%) in 30 wrists diagnosed with advanced-level CTS. Wrist MRI is an effective means to reveal associated pathologies in patients diagnosed with CTS by means of clinical testing and EDT. Additional pathologies may not only change the applicable type of surgery, but also decrease the number of postoperative failures. Wrist MRI is recommended, especially for young cases with unilateral CTS history accompanied by dubious clinical symptoms and lacking any pronounced predisposing factors.

  17. Alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation

    Directory of Open Access Journals (Sweden)

    Hilal Uslu Toygar

    2009-12-01

    Full Text Available Alport Syndrome (AS is an important hereditary disorder affecting the glomerular basement membrane. Diagnosis of AS is based on the presence of hematuric nephropathy, renal failure, hearing loss, ocular abnormalities and changes in the glomerular basement membrane of the lamina densa. The aims of this case report were to show the changes in the gingival tissues in a patient with AS under therapy with cyclosporin-A after renal transplantation and to discuss the possible role of type IV collagen in gingival basal lamina as an alternative approach for the diagnosis of AS. A 20-year-old male patient with AS underwent periodontal therapy including a series of gingivectomy surgeries. Gingival samples obtained during the second surgery were examined histopathologically and by transmission electron microscopy for further pathological examination. Gingivectomy procedures have been performed every 6 months over the last 4 years. The excessive and fibrous gingival enlargements resulted in migration of the anterior teeth, but no alveolar bone loss occurred. This is the first report to demonstrate the possible changes in the gingival tissues caused by AS. It is suggested that gingival biopsy can be an initial diagnostic tool instead of renal or skin biopsies. Proper dental and periodontal care and regular visits to the dentist could provide limited gingival hyperplasia to patients with AS.

  18. Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience.

    Science.gov (United States)

    Douzgou, Sofia; Pollalis, Yiannis A; Vozikis, Athanassios; Patrinos, George P; Clayton-Smith, Jill

    2016-01-01

    The big-data revolution is creating a challenge for the provision of services in the health sector to keep pace with the expectations of the general population. Utilization of crowdsourcing can impact positively on the quality, cost and speed of healthcare by involving large sections of professionals and the public and creating novel science within an ethical framework. In 2007, the DYSCERNE project was funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (submitting nodes), in 26 different European countries. DYSCERNE utilized the process of crowdsourcing international expertise for the clinical diagnosis of very rare genetic syndromes of multiple congenital anomalies. This is the first reported account of collaborative crowd sourcing in dysmorphology, as part of a clinical genetics service. © 2015 S. Karger AG, Basel.

  19. Muir-Torre syndrome (MTS): An update and approach to diagnosis and management.

    Science.gov (United States)

    John, Ann M; Schwartz, Robert A

    2016-03-01

    Muir-Torre syndrome (MTS) is a rare genetic condition that predisposes individuals to skin tumors and visceral malignancies. Because of the potentially aggressive nature of internal malignancies and sebaceous carcinoma, and the tendency to have multiple low-grade visceral cancers, close cancer surveillance is required in individuals and their families with this usually autosomal dominant disorder. Although the majority of MTS is caused by mutations in DNA mismatch repair genes resulting in microsatellite instability, a newly described subtype of MTS does not demonstrate microsatellite instability and may be inherited in an autosomal recessive pattern. In addition, MTS may be unmasked in transplant recipients taking specific immunosuppressant drugs or other immunosuppressed patients. Neoplasms may be subject to immunohistochemistry or both immunohistochemistry and genetic testing to confirm the diagnosis of MTS. Here, we offer an update and an approach to the diagnosis and management of MTS with a particular emphasis on the role of immunohistochemistry and genetic testing. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Mary-Ann Fitzcharles

    2013-01-01

    Full Text Available 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-based guidelines for the management of FMS were conducted. Results. Three evidence-based interdisciplinary guidelines, independently developed in Canada, Germany, and Israel, recommended that FMS can be clinically diagnosed by a typical cluster of symptoms following a defined evaluation including history, physical examination, and selected laboratory tests, to exclude another somatic disease. Specialist referral is only recommended when some other physical or mental illness is reasonably suspected. The diagnosis can be based on the (modified preliminary American College of Rheumatology (ACR 2010 diagnostic criteria. Discussion. Guidelines from three continents showed remarkable consistency regarding the clinical concept of FMS, acknowledging that FMS is neither a distinct rheumatic nor mental disorder, but rather a cluster of symptoms, not explained by another somatic disease. While FMS remains an integral part of rheumatology, it is not an exclusive rheumatic condition and spans a broad range of medical disciplines.

  1. Multi-threshold white matter structural networks fusion for accurate diagnosis of Tourette syndrome children

    Science.gov (United States)

    Wen, Hongwei; Liu, Yue; Wang, Shengpei; Li, Zuoyong; Zhang, Jishui; Peng, Yun; He, Huiguang

    2017-03-01

    Tourette syndrome (TS) is a childhood-onset neurobehavioral disorder. To date, TS is still misdiagnosed due to its varied presentation and lacking of obvious clinical symptoms. Therefore, studies of objective imaging biomarkers are of great importance for early TS diagnosis. As tic generation has been linked to disturbed structural networks, and many efforts have been made recently to investigate brain functional or structural networks using machine learning methods, for the purpose of disease diagnosis. However, few studies were related to TS and some drawbacks still existed in them. Therefore, we propose a novel classification framework integrating a multi-threshold strategy and a network fusion scheme to address the preexisting drawbacks. Here we used diffusion MRI probabilistic tractography to construct the structural networks of 44 TS children and 48 healthy children. We ameliorated the similarity network fusion algorithm specially to fuse the multi-threshold structural networks. Graph theoretical analysis was then implemented, and nodal degree, nodal efficiency and nodal betweenness centrality were selected as features. Finally, support vector machine recursive feature extraction (SVM-RFE) algorithm was used for feature selection, and then optimal features are fed into SVM to automatically discriminate TS children from controls. We achieved a high accuracy of 89.13% evaluated by a nested cross validation, demonstrated the superior performance of our framework over other comparison methods. The involved discriminative regions for classification primarily located in the basal ganglia and frontal cortico-cortical networks, all highly related to the pathology of TS. Together, our study may provide potential neuroimaging biomarkers for early-stage TS diagnosis.

  2. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

    Directory of Open Access Journals (Sweden)

    Lacombe Didier

    2011-05-01

    Full Text Available Abstract Background Usher syndrome (USH combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for genetic counseling. To date, nine causative genes have been identified for the three clinical subtypes (USH1, USH2 and USH3. Current diagnostic strategies make use of a genotyping microarray that is based on the previously reported mutations. The purpose of this study was to design a more accurate molecular diagnosis tool. Methods We sequenced the 366 coding exons and flanking regions of the nine known USH genes, in 54 USH patients (27 USH1, 21 USH2 and 6 USH3. Results Biallelic mutations were detected in 39 patients (72% and monoallelic mutations in an additional 10 patients (18.5%. In addition to biallelic mutations in one of the USH genes, presumably pathogenic mutations in another USH gene were detected in seven patients (13%, and another patient carried monoallelic mutations in three different USH genes. Notably, none of the USH3 patients carried detectable mutations in the only known USH3 gene, whereas they all carried mutations in USH2 genes. Most importantly, the currently used microarray would have detected only 30 of the 81 different mutations that we found, of which 39 (48% were novel. Conclusions Based on these results, complete exon sequencing of the currently known USH genes stands as a definite improvement for molecular diagnosis of this disease, which is of utmost importance in the perspective of gene therapy.

  3. Should Subclinical Hypothyroidism Be an Exclusion Criterion for the Diagnosis of Polycystic Ovary Syndrome?

    Science.gov (United States)

    de-Medeiros, Sebastião Freitas; Yamamoto, Márcia Marly Winck; de-Medeiros, Matheus Antônio Souto; Barbosa, Jacklyne Silva; Norman, Robert John

    2017-01-01

    The purpose of the study was to examine whether patients with subclinical hypothyroidism (SCH) should be excluded before making a diagnosis of polycystic ovary syndrome (PCOS). Seven hundred sixteen patients, 462 with true PCOS, 31 with PCOS-SCH, and 223 normal cycling women were enrolled. Clinical, metabolic, and hormonal parameters among the groups were investigated. Continuous variables were compared by one-way analysis of variance. Proportions were compared using Z test. Fisher test was used to compare categorical variables. Simple correlation was performed using Spearman's coefficient. Correlation between thyroid stimulating hormone (TSH) and dependent variables were performed using backward multiple regression. The significance level was set at 0.05. True polycystic ovary and polycystic ovary with subclinical hypothyroidism patients presented similar anthropometrical parameters. C-peptide was higher in polycystic ovary patients than in the other groups (p=0.014). Prevalence of glucose intolerance (p=0.186) and insulin resistance (p=0.293) was not statistically different in polycystic ovary and polycystic ovary with subclinical hypothyroidism. TSH levels showed positive correlation with lean body mass (p=0.032), total cholesterol (p=0.046, insulin (p=0.048) and prolactin (p=0.047). Backward multiple regression model retained TC, insulin, and PRL as predictors of TSH levels (p=0.011). Anthropometric parameters and ovary morphology were similar in both PCOS and PCOS-with-SCH patients. Regarding hormones, only C-peptide was higher in PCOS group. TSH correlated with total cholesterol, insulin, and prolactin. Before PCOS diagnosis, the exclusion criterion thyroid dysfunction should be standardized and subclinical hypothyroidism should not exclude a diagnosis of PCOS.

  4. Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis.

    Science.gov (United States)

    Mertz, Line Granild Bie; Christensen, Rikke; Vogel, Ida; Hertz, Jens Michael; Nielsen, Karen Brøndum; Grønskov, Karen; Østergaard, John R

    2013-09-01

    Angelman syndrome (AS) is a neurogenetic disorder caused by loss of expression of the maternal imprinted gene UBE3A on chromosome 15q11.2-q13. Clinical features of AS include severe intellectual disability, a happy disposition, ataxia, mandibular prognatism, and epilepsy. Our objectives were to examine the birth incidence of AS in Denmark and to characterize the size of the 15q11.2-q13 deletions with 1,000K array CGH. In addition, we analyzed genotype differences in regard to age at diagnosis and investigated the occurrence of deletions/duplications outside the 15q11.2-q13 regions. We identified 51 patients with genetically verified AS, which corresponded to a birth incidence of 1:24,580 (95%CI: 1:23,727-1:25,433). Thirty-six patients showed a deletion; 13 had a Class I deletion and 20 had a Class II deletion. There was bimodal distribution of the BP3 breakpoint. Three patients had larger and atypical deletions, with distal breakpoints telomeric to BP3. Five patients had paternal uniparental disomy (pUPD) of chromosome 15, and four had a verified UBE3A mutation. Additional deletions/duplications outside the 15q11.2-q13 areas were demonstrated in half the participants. Six harbored more than one CNV. Mean age at diagnosis was 21 months (95%CI: 17-23 months) for children with a deletion and 46 months (95%CI: 36-55 months) for children with pUPD or a UBE3A mutation (P < 0.01). The presence of a CNV outside 15q11.2-q13 did not have an impact on age at diagnosis. Copyright © 2013 Wiley Periodicals, Inc.

  5. Sonography and electrodiagnosis in carpal tunnel syndrome diagnosis, an analysis of the literature

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    Seror, P. [Laboratoire d' electromyographie, 146, avenue Ledru-Rollin, Paris 75011 (France)], E-mail: p.seror@wanadoo.fr

    2008-07-15

    We present a review of the international literature concerning sonography for the diagnosis of carpal tunnel syndrome (CTS). Analysis of the results and comparison with electrodiagnostic data provide a sensible albeit personal view on the relevance of sonography and whether it competes or is complementary to electrodiagnosis (EDX). Although EDX is considered as the gold standard for CTS diagnosis, one author chose surgical results to define CTS. The normal and threshold mean values for sonography are particularly variable from one study to another. The standard deviation (S.D.), when compared to mean values, makes normal and abnormal data overlap considerably and produces many false negatives when the specificity is high, and many false positives when the sensitivity is high. In fact, sonography is non-interpretable in only 10 to 15% of the population, and it affirms the median nerve lesion at the wrist in 55% of cases when EDX does it in more than 90% with common tests. Further more the specificity of sonography leads to a false positive diagnosis in 1 case out of 5 versus 1 out of 40 with EDX. The main conclusion is that there is no competition but rather a complementarity between sonography and EDX: sonography is certainly an efficient imaging technique but cannot replace proper EDX performed for upper limb paresthesiae. Namely, sonography can answer only one out of the 8 questions a complete EDX answer: Are sonographic images compatible with a median nerve lesion at the wrist? The answer to this solely question can be obtain with a partial EDX using a single conduction test (motor or sensitive), then duration and cost will be comparable to sonography but will be both more sensitive and specific. Finally, one must kept in mind that the final aim of all examinations in CTS is to determine the cause(s) of upper limb paresthesiae, not simply if there is a median nerve lesion at wrist or not.

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

    Science.gov (United States)

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

    2015-03-01

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

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

    Science.gov (United States)

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

    2014-04-01

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

  8. Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up

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    Erica Dorigatti de-Avila

    2015-02-01

    Full Text Available Nevoid basal cell carcinoma (NBCCS or Gorlin-Goltz syndrome (GS is a multidisciplinary problem, the early diagnosis of which allows secondary prophylaxis that follows an appropriate regimen to delay progression of the syndrome. The aim of this study was to present a case of delayed diagnosis of GS in a young patient who received multidisciplinary treatment 5 years after onset. The patient presented for evaluation with painless swelling of the left maxilla. Histological examination confirmed the diagnosis of a keratocyst odontogenic tumor (KOT that was enucleated. On presentation, the patient's symptoms and clinical signs were not related to complications of GS, and the possibility of GS was initially rejected, as he did not have a family history of the syndrome. Four years after the first surgery to remove the lesion, the patient came to our clinic with a brown, pigmented lesion. Computed tomography revealed ectopic lamellar calcification of the falx cerebri, which was the conclusive factor for the diagnosis of GS. It is important that clinicians recognize the clinical signs of GS, which mainly manifests itself as multiple basal cell carcinomas in the skin. [Arch Clin Exp Surg 2015; 4(1.000: 49-53

  9. Advances in diagnosis and treatment of hepatorenal syndrome type of acute kidney injury in patients with liver cirrhosis

    Directory of Open Access Journals (Sweden)

    SONG Tingxue

    2017-03-01

    Full Text Available Acute kidney injury (AKI is a common complication of liver cirrhosis and mainly manifests as a rapidly elevated serum creatinine level, a reduced glomerular filtration rate, and oliguria or anuria. Type 1 hepatorenal syndrome (HRS-1 is a special type of AKI, and patients with untreated HRS-1 have an extremely high risk of death. Early diagnosis and treatment are of great importance. This paper summarizes the latest diagnostic criteria for hepatorenal syndrome (HRS type of AKI and research advances in the treatment of HRS-1.

  10. Diagnosis and treatment of blue rubber bleb nevus syndrome in children.

    Science.gov (United States)

    Deng, Zhao-Hui; Xu, Chun-Di; Chen, Shun-Nian

    2008-02-01

    Blue rubber bleb nevus syndrome (BRBNS) is characterized by distinctive vascular malformations of skin and the gastrointestinal tract, often leading to chronic anemia and intestinal bleeding. It usually presents right after birth or during early infancy. Though the disease is inherent, its occurrence is sporadic. Thus it is usually not timely diagnosed. We analyzed the clinical characteristics and treatment of this disorder in order to improve the diagnosis and treatment. Three patients with BRBNS treated at our hospital during 2002-2003 and 39 patients from the literature reported during 1965-2003 were reviewed in terms of the diagnosis and treatment. BRBNS may be diagnosed as cutaneous cavernous hemangioma associated with the same lesion of the gastrointestinal tract and other organs. Our 3 patients suffered from cutaneous angioma and gastrointestinal hemangioma. In 39 patients reported in the literature, cutaneous angioma was observed in all of them, and gastrointestinal hemangioma in 31. Additionally, the lesions were also found in other organs such as the brain (7 patients), joint (2), liver (2), eye (1), kidney (1) and spleen (1). Cutaneous angioma was located on the surface of the skin, including body (93%), limbs (86%), hip (36%) and face (26%). Gastrointestinal hemangioma was more common in the small intestine (100%) than in the colon (74%) and stomach (26%). When the joint was involved by hemangioma, pathologic fracture or overgrowth of bone needed traction and amputation (1 patient respectively). For significant gastrointestinal bleeding, endoscopic techniques (8 patients), surgical excision (5), or both (1) were performed. Recurrent bleeding was successfully treated by endoscopic laser combined with steroid or interferon in one patient. BRBNS in children presents atypical symptom and systemic complications. It should be dealt with seriously if gastrointestinal bleeding or orthopedic complication occurs. Treatment includes conservative, endoscopic and

  11. Visuoperception test predicts pathologic diagnosis of Alzheimer disease in corticobasal syndrome.

    Science.gov (United States)

    Boyd, Clara D; Tierney, Michael; Wassermann, Eric M; Spina, Salvatore; Oblak, Adrian L; Ghetti, Bernardino; Grafman, Jordan; Huey, Edward

    2014-08-05

    To use the Visual Object and Space Perception Battery (VOSP) to distinguish Alzheimer disease (AD) from non-AD pathology in corticobasal syndrome (CBS). This clinicopathologic study assessed 36 patients with CBS on the VOSP. All were autopsied. The primary dependent variable was a binary pathologic outcome: patients with CBS who had primary pathologic diagnosis of AD (CBS-AD, n = 10) vs patients with CBS without primary pathologic diagnosis of AD (CBS-nonAD, n = 26). We also determined sensitivity and specificity of individual VOSP subtests. Patients with CBS-AD had younger onset (54.5 vs 63.6 years, p = 0.001) and lower memory scores on the Mattis Dementia Rating Scale-2 (16 vs 22 points, p = 0.003). Failure on the VOSP subtests Incomplete Letters (odds ratio [OR] 11.5, p = 0.006), Position Discrimination (OR 10.86, p = 0.008), Number Location (OR 12.27, p = 0.026), and Cube Analysis (OR 45.71 p = 0.0001) had significantly greater odds of CBS-AD than CBS-nonAD. These associations remained when adjusting for total Mattis Dementia Rating score, disease laterality, education, age, and sex. Receiver operating characteristic curves demonstrated significant accuracy for Incomplete Letters and all VOSP spatial subtests, with Cube Analysis performing best (area under the curve 0.91, p = 0.0004). In patients with CBS, failure on specific VOSP subtests is associated with greater odds of having underlying AD. There may be preferential involvement of the dorsal stream in CBS-AD. This study provides Class II evidence that some subtests of the VOSP accurately distinguish patients with CBS-AD from those without AD pathology (e.g., Cube Analysis sensitivity 100%, specificity 77%). © 2014 American Academy of Neurology.

  12. Role of the skin biopsy in the diagnosis of atypical hemolytic uremic syndrome.

    Science.gov (United States)

    Magro, Cynthia M; Momtahen, Shabnam; Mulvey, Joseph Justin; Yassin, Aminah H; Kaplan, Robert B; Laurence, Jeffrey C

    2015-05-01

    Atypical hemolytic uremic syndrome (aHUS) is a prototypic thrombotic microangiopathy attributable to complement dysregulation. In the absence of complement inhibition, progressive clinical deterioration occurs. The authors postulated that a biopsy of normal skin could corroborate the diagnosis of aHUS through the demonstration of vascular deposits of C5b-9. Biopsies of normal skin from 22 patients with and without aHUS were processed for routine light microscopy and immunofluorescent studies. An assessment was made for vascular C5b-9 deposition immunohistochemically and by immunofluorescence. The biopsies were obtained primarily from the forearm and/or deltoid. Patients with classic features of aHUS showed insidious microvascular changes including loose luminal platelet thrombi, except in 2 patients in whom a striking thrombogenic vasculopathy was apparent in biopsied digital ulcers. Extensive microvascular deposits of the membrane attack complex/C5b-9 were identified, excluding 1 patient in whom eculizumab was initiated before biopsy. In 5 of the 7 patients where follow-up was available, the patients exhibited an excellent treatment response to eculizumab. Patients without diagnostic clinical features of aHUS failed to show significant vascular deposits of complement, except 2 patients with thrombotic thrombocytopenic purpura including 1 in whom a Factor H mutation was identified. In a clinical setting where aHUS is an important diagnostic consideration, extensive microvascular deposition of C5b-9 supports the diagnosis of either aHUS or a subset of thrombotic thrombocytopenic purpura patients with concomitant complement dysregulation; significant vascular C5b-9 deposition predicts clinical responsiveness to eculizumab.

  13. Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline

    Science.gov (United States)

    Legro, Richard S.; Arslanian, Silva A.; Ehrmann, David A.; Hoeger, Kathleen M.; Murad, M. Hassan; Pasquali, Renato; Welt, Corrine K.

    2013-01-01

    Objective: The aim was to formulate practice guidelines for the diagnosis and treatment of polycystic ovary syndrome (PCOS). Participants: An Endocrine Society-appointed Task Force of experts, a methodologist, and a medical writer developed the guideline. Evidence: This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system to describe both the strength of recommendations and the quality of evidence. Consensus Process: One group meeting, several conference calls, and e-mail communications enabled consensus. Committees and members of The Endocrine Society and the European Society of Endocrinology reviewed and commented on preliminary drafts of these guidelines. Two systematic reviews were conducted to summarize supporting evidence. Conclusions: We suggest using the Rotterdam criteria for diagnosing PCOS (presence of two of the following criteria: androgen excess, ovulatory dysfunction, or polycystic ovaries). Establishing a diagnosis of PCOS is problematic in adolescents and menopausal women. Hyperandrogenism is central to the presentation in adolescents, whereas there is no consistent phenotype in postmenopausal women. Evaluation of women with PCOS should exclude alternate androgen-excess disorders and risk factors for endometrial cancer, mood disorders, obstructive sleep apnea, diabetes, and cardiovascular disease. Hormonal contraceptives are the first-line management for menstrual abnormalities and hirsutism/acne in PCOS. Clomiphene is currently the first-line therapy for infertility; metformin is beneficial for metabolic/glycemic abnormalities and for improving menstrual irregularities, but it has limited or no benefit in treating hirsutism, acne, or infertility. Hormonal contraceptives and metformin are the treatment options in adolescents with PCOS. The role of weight loss in improving PCOS status per se is uncertain, but lifestyle intervention is beneficial in overweight

  14. A study of interpolation method in diagnosis of carpal tunnel syndrome

    Directory of Open Access Journals (Sweden)

    Alireza Ashraf

    2013-01-01

    Full Text Available Context: The low correlation between the patients′ signs and symptoms of carpal tunnel syndrome (CTS and results of electrodiagnostic tests makes the diagnosis challenging in mild cases. Interpolation is a mathematical method for finding median nerve conduction velocity (NCV exactly at carpal tunnel site. Therefore, it may be helpful in diagnosis of CTS in patients with equivocal test results. Aim: The aim of this study is to evaluate interpolation method as a CTS diagnostic test. Settings and Design: Patients with two or more clinical symptoms and signs of CTS in a median nerve territory with 3.5 ms ≤ distal median sensory latency <4.6 ms from those who came to our electrodiagnostic clinics and also, age matched healthy control subjects were recruited in the study. Materials and Methods: Median compound motor action potential and median sensory nerve action potential latencies were measured by a MEDLEC SYNERGY VIASIS electromyography and conduction velocities were calculated by both routine method and interpolation technique. Statistical Analysis Used: Chi-square and Student′s t-test were used for comparing group differences. Cut-off points were calculated using receiver operating characteristic curve. Results: A sensitivity of 88%, specificity of 67%, positive predictive value (PPV and negative predictive value (NPV of 70.8% and 84.7% were obtained for median motor NCV and a sensitivity of 98.3%, specificity of 91.7%, PPV and NPV of 91.9% and 98.2% were obtained for median sensory NCV with interpolation technique. Conclusions: Median motor interpolation method is a good technique, but it has less sensitivity and specificity than median sensory interpolation method.

  15. The value of symptoms and signs in the emergent diagnosis of acute coronary syndromes.

    Science.gov (United States)

    Body, Richard; Carley, Simon; Wibberley, Christopher; McDowell, Garry; Ferguson, Jamie; Mackway-Jones, Kevin

    2010-03-01

    Patient history and physical examination are widely accepted as cornerstones of diagnosis in modern medicine. We aimed to assess the value of individual historical and examination findings for diagnosing acute myocardial infarction (AMI) and predicting adverse cardiac events in undifferentiated Emergency Department (ED) patients with chest pain. We prospectively recruited patients presenting to the ED with suspected cardiac chest pain. Clinical features were recorded using a custom-designed report form. All patients were followed up for the diagnosis of AMI and the occurrence of adverse events (death, AMI or urgent revascularization) within 6 months. AMI was diagnosed in 148 (18.6%) of the 796 patients recruited. Following adjustment for age, sex and ECG changes, the following characteristics made AMI more likely (adjusted odds ratio, 95% confidence intervals): pain radiating to the right arm (2.23, 1.24-4.00), both arms (2.69, 1.36-5.36), vomiting (3.50, 1.81-6.77), central chest pain (3.29, 1.94-5.61) and sweating observed (5.18, 3.02-8.86). Pain in the left anterior chest made AMI significantly less likely (0.25, 0.14-0.46). The presence of rest pain (0.67, 0.41-1.10) or pain radiating to the left arm (1.36, 0.89-2.09) did not significantly alter the probability of AMI. Our results challenge many widely held assertions about the value of individual symptoms and signs in ED patients with suspected acute coronary syndromes. Several 'atypical' symptoms actually render AMI more likely, whereas many 'typical' symptoms that are often considered to identify high-risk populations have no diagnostic value. Copyright 2009. Published by Elsevier Ireland Ltd.

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

    Directory of Open Access Journals (Sweden)

    Cataldo D

    2017-02-01

    Full Text Available Didier Cataldo,1 Jean-Louis Corhay,1 Eric Derom,2 Renaud Louis,1 Eric Marchand,3,4 Alain Michils,5 Vincent Ninane,6 Rudi Peché,7 Charles Pilette,8 Walter Vincken,9 Wim Janssens10 1Department of Respiratory Diseases, CHU Liège, University of Liège, Liège, 2Department of Respiratory Medicine, Ghent University Hospital, Ghent, 3Department of Respiratory Medicine, CHU – UCL – Namur, Université catholique de Louvain, Yvoir, 4Molecular Physiology Research Unit (URPhyM-NARILIS, Laboratory of General Physiology, University of Namur, Namur, 5Chest Department, Erasme University Hospital, Université Libre de Bruxelles, Brussels, 6Department of Respiratory Medicine, University Hospital Saint-Pierre, Université Libre de Bruxelles, Brussels, 7Department of Respiratory Medicine, University Hospital Vésale, Montigny-le-Tilleul, 8Department of Respiratory Medicine, Cliniques universitaires St Luc, Université Catholique de Louvain, Brussels, 9Respiratory Division, University Hospital Brussels (UZ Brussel, Vrije Universiteit Brussel, Brussels, 10Department of Respiratory Diseases, University Hospitals Leuven, Leuven, Belgium 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

  17. Regional Anesthesia Did Not Delay Diagnosis of Compartment Syndrome: A Case Report of Anterior Compartment Syndrome in the Thigh Not Masked by an Adductor Canal Catheter.

    Science.gov (United States)

    Torrie, Arissa; Sharma, Jyoti; Mason, Mark; Cruz Eng, Hillenn

    2017-04-24

    BACKGROUND Acute compartment syndrome (ACS) of the thigh after elective primary total knee arthroplasty is rare. If not recognized and treated promptly, devastating consequences may result. Certain regional anesthesia techniques are thought to mask the symptoms of acute compartment syndrome, but there are no cases reported of adductor canal catheters masking the symptoms of thigh compartment syndrome. We report a case where symptoms and diagnosis of acute anterior thigh compartment syndrome were not masked by a functioning adductor canal catheter. CASE REPORT A 56-year-old male developed anterior thigh compartment syndrome after an elective primary total knee arthroplasty. Surgery was performed under spinal anesthesia with periarticular local infiltration analgesia. Postoperatively, an adductor canal catheter was placed, atraumatically, under ultrasound guidance in the recovery room with a plan to begin a continuous infusion of 0.2% ropivacaine 10 hours after the periarticular injection. Six hours after surgery, the patient complained of tightness and 10/10 pain in his right thigh, which was initially managed with parenteral opioids with moderate success. Continuous infusion through the adductor canal catheter was started and pain improved to 6/10 aching pain. Nonetheless, two hours after starting the continuous infusion, the patient reported tightness, swelling, and 10/10 pressure-like pain that was not relieved by the peripheral catheter infusion or PRN boluses of additional opioids. Due to the patient's symptomatology compartment pressures were measured. The anterior compartment pressure was 47 mm Hg and emergent anterior compartment fasciotomy was performed. CONCLUSIONS In this case, a functioning adductor canal catheter did not mask symptoms of, or delay diagnosis of, acute compartment syndrome in the thigh.

  18. Effectiveness of home respiratory polygraphy for the diagnosis of sleep apnoea and hypopnoea syndrome.

    Science.gov (United States)

    Masa, Juan F; Corral, Jaime; Pereira, Ricardo; Duran-Cantolla, Joaquin; Cabello, Marta; Hernández-Blasco, Luis; Monasterio, Carmen; Alonso, Alberto; Chiner, Eusebi; Rubio, Manuela; Garcia-Ledesma, Estefania; Cacelo, Laura; Carpizo, Rosario; Sacristan, Lirios; Salord, Neus; Carrera, Miguel; Sancho-Chust, José N; Embid, Cristina; Vázquez-Polo, Francisco-José; Negrín, Miguel A; Montserrat, Jose M

    2011-07-01

    Home respiratory polygraphy (HRP) may be a cost-effective alternative to polysomnography for the diagnosis of sleep apnoea-hypopnoea syndrome (SAHS), but stronger evidence is needed. Normally, patients transport HRP equipment from the hospital to home and back, which may create difficulties for some patients. To determine both the diagnostic efficacy and cost of HRP (with and without a transportation service moving the device and telematic transmission of data) in a large sample compared with in-hospital polysomnography. Patients suspected of having SAHS were included in a multicentre study (eight hospitals). They were assigned to home and hospital protocols in random order. Receiver operating characteristic curves were constructed for manual respiratory polygraphy scoring protocol and different polysomnographic cut-off points. Diagnostic efficacies for several polysomnographic cut-off points were explored and costs for two equally effective alternatives were calculated. Of 366 randomised patients, 348 completed the protocol. The best receiver operating characteristic curve was obtained with a polysomnographic cut-off of the apnoea-hypopnoea index (AHI)≥5. The sensitive HRP AHI cut-off point (10) had a sensitivity of 87%, a specificity of 86% and a positive LR of 6.25. The cost of HRP was half that of polysomnography. Telematic transmission costs were similar if the patients' costs were taken in to account. HRP is an alternative to polysomnography in patients with suspected SAHS. Telematic procedures may help patients with limited mobility and those who live a long way from the sleep centre.

  19. Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

    Science.gov (United States)

    Dimassi, S; Labalme, A; Ville, D; Calender, A; Mignot, C; Boutry-Kryza, N; de Bellescize, J; Rivier-Ringenbach, C; Bourel-Ponchel, E; Cheillan, D; Simonet, T; Maincent, K; Rossi, M; Till, M; Mougou-Zerelli, S; Edery, P; Saad, A; Heron, D; des Portes, V; Sanlaville, D; Lesca, G

    2016-02-01

    Infantile spasms syndrome (ISs) is characterized by clinical spasms with ictal electrodecrement, usually occurring before the age of 1 year and frequently associated with cognitive impairment. Etiology is widely heterogeneous, the cause remaining elusive in 40% of patients. We searched for de novo mutations in 10 probands with ISs and their parents using whole-exome sequencing (WES). Patients had neither consanguinity nor family history of epilepsy. Common causes of ISs were excluded by brain magnetic resonance imaging (MRI), metabolic screening, array-comparative genomic hybridization (CGH) and testing for mutations in CDKL5, STXBP1, and for ARX duplications. We found a probably pathogenic mutation in four patients. Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs. The p.Asn107Ser missense mutation of ALG13 had been previously reported in four females with ISs. The fourth mutation was an in-frame deletion (p.Phe110del) in NR2F1, a gene whose mutations cause intellectual disability, epilepsy, and optic atrophy. In addition, we found a possibly pathogenic variant in KIF3C that encodes a kinesin expressed during neural development. Our results confirm that WES improves significantly the diagnosis yield in patients with sporadic ISs. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Diagnosis and management of acute coronary syndrome: an evidence-based update.

    Science.gov (United States)

    Smith, Jennifer N; Negrelli, Jenna M; Manek, Megha B; Hawes, Emily M; Viera, Anthony J

    2015-01-01

    Acute coronary syndrome (ACS) describes the range of myocardial ischemic states that includes unstable angina, non-ST elevated myocardial infarction (MI), or ST-elevated MI. ACS is associated with substantial morbidity and mortality and places a large financial burden on the health care system. The diagnosis of ACS begins with a thorough clinical assessment of a patient's presenting symptoms, electrocardiogram, and cardiac troponin levels as well as a review of past medical history. Early risk stratification can assist clinicians in determining whether an early invasive management strategy or an initial conservative strategy should be pursued and can help determine appropriate pharmacologic therapies. Key components in the management of ACS include coronary revascularization when indicated; prompt initiation of dual antiplatelet therapy and anticoagulation; and consideration of adjuvant agents including β blockers, inhibitors of the renin angiotensin system, and HmG-coenzyme A reductase inhibitors. It is essential for clinicians to take an individualized approach to treatment and consider long-term safety and efficacy when managing patients with a history of ACS after hospital discharge. © Copyright 2015 by the American Board of Family Medicine.