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Efrén Martínez-Quintana, Noemí Caballero-Sánchez, Fayna Rodríguez-González, Paloma Garay-Sánchez, Antonio Tugores
Marfan syndrome is an autosomal dominant disorder of the connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Mutations affecting cysteine residues within the epidermal growith factor-like calcium-binding domains (EGF_CA) of FBN1 are associated with Marfan syndrome features and, especially, with ectopia lentis. We report a novel substitution, affecting the first cysteine of an EGF_CA-binding module encoded by exon 63 of FBN1 (C2571Y), in a patient presenting with typical Marfan syndrome features but without ectopia lentis...
May 2017: Molecular Syndromology
Pere Domingo, José M Gallego-Escuredo, Joan C Domingo, Maria del Mar Gutiérrez, Maria G Mateo, Irene Fernández, Francesc Vidal, Marta Giralt, Francesc Villarroya
OBJECTIVE: HIV-1-infected patients with lipodystrophy show insulin resistance, dyslipidemia and other signs of metabolic syndrome. Fibroblast growth factor-21 (FGF21) is a novel metabolic regulator that has been suggested to exert beneficial effects on metabolic homeostasis and insulin sensitivity. Our goal was to determine the relationship between FGF21 levels and metabolic alterations in these patients. RESEARCH DESIGN AND METHODS: Serum FGF21 levels were analyzed in 179 individuals belonging to four groups: HIV-1-infected, antiretroviral-treated patients that have developed lipodystrophy (n = 59); HIV-1-infected, antiretroviral-treated patients without lipodystrophy (n = 45); untreated (naive) HIV-1-infected patients (n = 41); and healthy control individuals (n = 34)...
November 13, 2010: AIDS
J A Blanco Domínguez, R M Isnard Planchar, J Ilari Rocabert, P López Ortiz, A Castellví Gil
BACKGROUND: There is controversy about the immediate or delayed treatment of the cases of acute appendicitis which are diagnosed in the form of appendicular mass and/or apendicular abscess. At first, do we have to follow a medical or a surgical treatment? In those cases of conservative treatment, do we always have to carry out a delayed appendectomy? We have revised our experience to discuss the different options in order to try to define some implementation criteria. MATERIAL AND METHODS: We have revised the cases of appendicitis from January 2003 to December 2005, choosing the cases of appendicular mass on this study...
January 2008: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
S Oprescu, C Savlovschi, L Duţă, M Sabău, H Panţu, B Sandolache, L Vasilescu, A Dinescu
This article presents a 28 years old male patient case with a retroperitoneal collection of apendicular origin. After few comments about clinical and paraclinical aspects, the authors emphasise the particular aspects of differential diagnosis and surgical approach which, finally, lead to a full recovery of the patient.
March 2000: Chirurgia
No abstract text is available yet for this article.
October 1956: Revista de la Sanidad Militar Argentina
L A Resende, R J Battistuta, T Sato, N A De Bortoli
The authors report a case of a 27 year old male patient who has exhibited external ophthalmoplegia, anisocoria, ataxia, absent deep reflexes, dysphagia, dysphonia, bilateral peripheral facial paralysis, hypopallesthesia and a mild sensory impairment of the four extremities. In addition, his cerebrospinal fluid showed albuminocytologic dissociation. The otoneurologic examination showed important findings. These symptoms began ten days after a "cold", and quickly subsided after prednisone therapy. Two months after the onset of clinical features, just a deep apendicular areflexia was detected on his neurological examination...
June 1984: Arquivos de Neuro-psiquiatria
H Schurawitzki, M Schratter, N Pongracz, O Braun
In a study of 21 patients with osteogenic sarcoma of the apendicular skeleton proven by biopsy, the diagnostic value of computed tomography (CT) for the assessment of intramedullary tumor growth, epiphyseal and joint involvement was determined. CT findings were correlated with histopathologic findings. 10 of the 21 tumors were located far from the epiphysis, in 11 cases the epiphysis was infiltrated. Tumorous involvement of the articular cartilage occurred in 3 patients, in one case the tumor extended beyond the joint...
May 1989: Zeitschrift Für Orthopädie und Ihre Grenzgebiete
W Azabache Puente, L Johanson Arias
A randomised prospective study of 80 patients to demonstrate if oral hydration with rehydratant salts is as effective as the parenteral infusion for the hydration of patients immediately after appendectomy was performed. The tolerance and conditions of hydration were excellent with 92.5% and 87.5% respectively with oral hydration and with parenteral hydration (p > 0.05). The use of Metronidazole orally with Gentamycetin intramuscular or complication such a wound infection did not influence the hospital stay...
1992: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
F Vázquez Rueda, J L Valdivieso García, J Salas Molina, R M Paredes Esteban, A Escassi Gil, R Pérez de Sobrino, J M Ocaña Losa
Apendicular Carcinoid tumors are very infrequent, being lower than 0.1% of the appendicectomies carried out. We report on the case of a 13 year-old girl, with Acute Appendicitis picture. The appendix was removed and the histological study revealed the presence of the carcinoid tumor with a diameter of a 6 mm. Where non-invasive treatment was decided on, and at present, after two years follow-up, there has been no recurrence.
October 1992: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
M Pahomeanu, A Anghelide, F Mandache
The authors present the case of a patient with acute, right iliac fossa abdominal syndrome, simulating acute apendicitis. In the course of the intervention it was noted that the syndrome was determined by an acute Meckel diverticulitis, perforated by a foreign body (fish bone). In view of making the diagnosis of acute diverticulitis, that cannot be assessed before surgery, the importance is stressed of the correlation of the clinical aspects with the apendicular lesions found in the course of the operation, and, when there is no satisfactory concordance, careful checking of the cecum becomes necessary, as well as of the right annexe and of the ileon over at least three feet...
July 1976: Revista de Chirurgie, Oncologie, Radiologie, O.r.l., Oftalmologie, Stomatologie. Chirurgie
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