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Rare deseases

Dafne Braga Diamante Leiderman, Nelson Wolosker, Marcos Vieira de Melo Oliveira, Heitor Andrei Miranda de Carvalho, Felipe Trajano de Freitas Barão, Antonio Eduardo Zerati, Nelson De Luccia, Pedro Puech-Leão
BACKGROUND: Transient paraplegia of the lower limbs is a rare condition and, when has a vascular etiology, is usually associated with thromboembolic events, aortic dissection, aortic aneurysms, or as a complication of the surgical correction of those diseases. There is no case reported of acute paraplegia caused by a segmental thrombotic subocclusion of the descending thoracic aorta. CASE REPORT: We report a not yet described clinical situation of a young patient (51 years) admitted to the emergency care department for treatment of systemic arterial hypertension of difficult control with 4 antihypertensive medication classes...
March 5, 2018: Annals of Vascular Surgery
Hengshan Ji, Jiang Wu, Guifen Yang, Chuanjin Sun, Hong Zhu, Longjiang Zhang
OBJECTIVE: Adult liver Langerhans cell histiocytosis (LCH) is an extremely rare desease. This paper reports a 40 years old male patient who was diagnosed as liver LCH though ultrasound-guided liver biopsy. The initial Fluorrine-18- fluorodeoxyglucose positron emission tomography/ computed tomography (18F-FDG PET/CT) showed multiple nodular low-density lesions in liver without obvious elevated 18F-FDG uptake. Four years later, the follow-up 18F-FDG PET/CT showed the liver multiple lesions with slightly elevated 18F-FDG uptake...
January 2017: Hellenic Journal of Nuclear Medicine
A Lambertz, B O Stüben, B Bock, R Eickhoff, A Kroh, C D Klink, U P Neumann, C J Krones
BACKGROUND: The increased use of laparoscopy has resulted in certain complications specifically associated with the laparoscopic approach, such as port-site incisional hernia (PIH). Until today, it is not finally clarified if port-site closure should be performed by fascia suture or not. Furthermore, the optimal treatment strategy in PIH (suture vs. mesh) is still widely unclear. The aim of this study was to present our experience with PIH in two independent departments and to derive possible treatment strategies from these results...
February 2017: Annals of Medicine and Surgery
Giacomo Benassai, Stefano Perrotta, Ermenegildo Furino, Carlo De Werra, Sergio Aloia, Roberto Del Giudice, Bruno Amato, Gabriele Vigliotti, Gennaro Limite, Gennaro Quarto
INTRODUCTION: The annular pancreas is a congenital anomaly in which pancreatic tissue partially or completely surrounds the second portion of the duodenum. Its often located above of papilla of Vater (85%), rarely below (15%). This pancreatic tissue is often easily dissociable to the duodenum but there is same cases where it the tissue is into the muscolaris wall of the duodenum. MATERIAL AND METHODS: We describe three case of annular pancreas hospitalized in our facility between January 2004 and January 2009...
September 2015: International Journal of Surgery
D A Morozov, E S Pimenova, V K Tatochenko, M D Bakradze, D D Gadliya, O L Morozova, A G Talalaev
The rare combination of intestinal lymphangiectasia with malrotation of the duodenum in a child of three months of life is described. Basing on the literature review only 3 similar cases were described in the world practice. The boy with protein-losing enteropathy was examined at Moscow Scientific Centre of Children's Health. The child had vomiting, diarrhea, loss in body weight, hypoproteinemia, lymphopenia. The infectious nature of the disease was excluded. It had been suggested the Waldman desease (primary intestinal lymphangiectasia)...
2015: Vestnik Rossiĭskoĭ Akademii Meditsinskikh Nauk
C Ilea, Ivona Lupaşcu, Demetra Socolov, A Cărăuleanu
UNLABELLED: Endometriosis represent the presence and proliferation of functional endometrial-like tissue outside the uterine cavity, and is a chronic, recurrent, debilitating desease, in which kidney implications are rare, but complex. OBJECTIVE: Evaluation of clinical, imagistic and surgical implications of uretero-hydronephrosis secondary to recurrent pelvic endometriosis. MATERIAL AND METHODS: 30 year old patient diagnosed with primary infertility and left ovarian endometriosis (treated with classically conservative surgical procedure), presented acute onset of obstructive urinary symptoms, requiring internal drainage of the upper urinary straight path (Cook probe) for uretero-hydronephrosis grade III...
January 2015: Revista Medico-chirurgicală̆ a Societă̆ţ̜ii de Medici ş̧i Naturaliş̧ti Din Iaş̧i
Virginia Vinha Zanuncio, Luciana Rabelo de Carvalho, Antônio Carlos Martins Guedes, Cláudia Márcia Resende Silva, Bernardo Gontijo
Langerhans cell histiocytosis is a rare, clinically heterogeneous disease. Since there is considerable clinical overlap among the four described variants (Hand-Schüller-Christian, eosinophilic granuloma, Letterer-Siwe and Hashimoto-Pritzker), the concept of spectral disease applies to this entity. The Hashimoto-Pritzker variant was first described in 1973. Characteristically, it is present at birth or during the first days of life, impairment is limited to the skin and prognosis is favorable with spontaneous resolution...
November 2013: Anais Brasileiros de Dermatologia
Azra Latic, Ferid Latic, Mirela Delibegovic, Josip Samardzic, Darko Kraljik, Samir Delibegovic
BACKGROUND: Cholecystoduodenal fistula (CD) is a rare complication of gallstone disease. Laparoscopic stapling techniques have been reported as feasible methods for treating this fistula, however these procedures are not always performed successfully. We have reported five cases of CD diagnosed intraoperatively, managed successfully by laparoscopic approach. MATERIALS AND METHODS: During the 3-year period, from 2007 to 2009, 1500 patients underwent LC for gallstone desease, five of them (3...
2010: Medicinski Arhiv
G Stojanov, N Yaramov, N Damyanov, P Bekova
The Hydatid desease of the liver is without exactly pointed pathological syndrome. Frequently this disease is promoting with some kinds of masks: allergies, hyperpirexis without suppuration of the cyst bile duct pathological motilities, portal hypertension, icterus, abdominal mass, neuroses than all of those make medic difficulted at the diagnostic process. Some cases of diagnostic lapse are note rare or correct discover getting just on the surgical table. Because of this it is very imported to recognize those masks and always look for hydatid disease...
2009: Khirurgiia
A Maier, M W Gee, C Reeps, H-H Eckstein, W A Wall
As a degenerative and inflammatory desease of elderly patients, about 80% of abdominal aortic aneurysms (AAA) show considerable wall calcification. Effect of calcifications on computational wall stress analyses of AAAs has been rarely treated in literature so far. Calcifications are heterogeneously distributed, non-fibrous, stiff plaques which are most commonly found near the luminal surface in between the intima and the media layer of the vessel wall. In this study, we therefore investigate the influence of calcifications as separate AAA constituents on finite element simulation results...
October 2010: Biomechanics and Modeling in Mechanobiology
R Doubek, D Petrovová, J Kalvodová, M Doubek
OBJECTIVE: To summarize available data concerning hematologic malignancies in pregnancy. DESIGN: Review article. SETTING: Department of Obstetrics and Gynekology, Fakulty of Medicine, Masaryk University and University Hospital Brno. METHODS: Compilation of published data from scientific literature. CONCLUSIONS: Cancer complicating pregnancy is a rare coexistence. The incidence is approximately 1 in 1,000 pregnancies...
April 2009: Ceská Gynekologie
Hee Sun Wang, Hyeun Sung Kim, Chang Il Ju, Seok Won Kim
We report a rare case of delayed cement displacement after balloon kyphoplasty in patient with Kümmell's desease. A 78-year-old woman with Kümmell's desease at T12 level received percutaneous balloon kyphoplasty. Two months after surgery, the patient complained of progressive severe back pain. Computed tomographic scans revealed a breakdown of the anterior cortex and anterior displacement of bone cement. Although this complication is very rare, it is likely to occur in treatment of Kümmell's desease accompanying anterior cortical defect...
April 2008: Journal of Korean Neurosurgical Society
A Kvezereli-Kopadze, Z Mtvarelidze, M Kvezereli-Kopadze
Erythroleukaemia (DI Guglielmo Desease) is a rare form of acute myeloid leukaemia. This pathology is extremely difficult to be diagnosed on the early stage. Acute erythroleukaemia may make its debut under the mask of haemolytic anaemia and can be acceptably suspected only after emergence of malignant cells in peripheral blood. In the paper is presented a case of 13 years old girl, who on the basis of anamnesis, clinical, and paraclinical data was diagnosed as having Autoimmune Haemolytic Anemia. As a result of prednisolone therapy full clinical and partial laboratory remission was achieved...
October 2008: Georgian Medical News
Yuka Kyoraku, Jun-Ichi Ashitani, Yoshifumi Imazu, Chikara Fukuyama, Kahori Miyoshi, Tsuyoshi Kodama, Shigehisa Yanagi, Nobuhiro Matsumoto, Masamitsu Nakazato
A 55-year-old woman who developed severe hypoxemia associated with severe pneumonia was admitted to our hospital for mechanical ventilation. She was treated with antibiotics under a diagnosis of mycoplasma pneumonia. Although most clinical findings improved, hypoxemia remained. As a chest CT film showed multiple nodules and an enhanced CT film revealed arterial filling in the nodules, multiple pulmonary arteriovenous fistulas (PAVFs) were considered to be an underlying cause of hypoxemia. Transcatheter coil embolization for 5 PAVFs, significantly ameliorated hypoxemia in the patient...
September 2008: Nihon Kokyūki Gakkai Zasshi, the Journal of the Japanese Respiratory Society
N Borojević, P Trbojević, J Zamurović
Mastitis carcinomatosa (inflammatory carcinoma) is a very rare form of breast cancer, with a rapid progress, generalisation and dissemination into the vital organs, and lethal issue. Inflammatory carcinoma of the breast (ICB) accounts for 1 to 4 per cent of all breast carcinomas. Only 3 to 6 per cent of patients survive for 5 years, and a great number of patients die within 1 to 2 years, with disseminated metastases. Undefined diagnostical criteria of the desease are responsible of undefined therapeutical procedures...
March 1990: Srpski Arhiv za Celokupno Lekarstvo
V Malagnino, S M Falzarano
Cardiac echinococcosis is very rare, even in endemic regions. It has been reported that cardiac involvement is seen in about 0.5-3% of human echinococcosis cases. A case of cardiac isolated hydatid desease that caused sporadic syncopal episodes is illustrated.
August 2006: Pathologica
F Renou, A Gerber, M-P Moiton, D Ferrandiz, J-L Yvin
INTRODUCTION: The most common presenting features of multiple myeloma are bone pain, anemia, renal failure or hypercalcemia. Bacterial infection as the initial presentation of this desease is rare. CLINICAL CASE: We report the case of a 62-year-old man with pneumococcal septic arthritis of the knee revealing a multiple myeloma. DISCUSSION: Pneumococcal infection should lead to a suspicion of underlying illness and especially the multiple myeloma...
March 2007: La Revue de Médecine Interne
Yoshitomo Kobori, Futoshi Matsui, Toshiyasu Amano, Katsuro Takemae
We report a case of urachal actinomycosis with bone formation. A 76-year-old woman was admitted to our hospital with a complaint of gross hematuria. Cystoscopy revealed bleeding from the dome of the bladder wall. Magnetic resonance imaging revealed a mass extending from the dome of the bladder to just below the umbilicus. A urachal tumor was clinically suspected, and the mass was resected together with urachal remnant and part of the bladder wall. Pathological diagnosis of the specimen was actinomycosis. The bone tissue was found in the abcess...
October 2004: Hinyokika Kiyo. Acta Urologica Japonica
M Maliki, N Mahassini, F Zouaidia, Z Bernoussi, F Mansouri, A El Hachimi
Intra-abdominal desmoplastic small round cell tumor is an extremely rare and aggressive neoplasm that predominantly occurs in young adult men; it has an uncertain histogenesis, and predominant or exclusive intra-abdominal localisation without visceral origin involvement. This tumor is characterized by its distinct morphology and its multiphenotypic differentiation. We report a case of an intra-abdominal desmoplastic round cell tumor in a 24 years old woman. In the light of this case, the clinical morphological immunohistochemical and molecular of this rare desease are revewed...
July 2004: Revue Médicale de Liège
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