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1.
Filomena Napolitano Valentina Di Iorio Giuseppe Di Iorio Mariarosa Anna Beatrice Melone Fernando Gianfrancesco Francesca Simonelli 《Ophthalmic genetics》2019,40(1):39-42
Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p.(V3140M) mutation in the laminin alpha-5 (LAMA5) gene, which affects connective tissues of all organs and apparatus in a three generation family. In the same family, we have also reported a myopic trait, which, however, was linked to the Prolyl 4-hydroxylase subunit alpha-2 (P4HA2) gene. Results of investigation on vitreous changes and their pathogenesis are reported in the present study.Materials and Methods: Nineteen family individuals underwent complete ophthalmic examination including best-corrected visual acuity (BCVA), fundus examination, fundus photography, intraocular pressure measurement, axial length measurement using ocular biometry, Goldmann visual field examination, standard electroretinogram, SD-OCT. Segregation analysis of LAMA5 and P4HA2 mutations was performed in enrolled members.Results: The vitreous alterations fully segregated with LAMA5 mutation in both young and adult family members. Slight reduction of retinal thickness and peripheral retinal degeneration in only two patients were reported.Conclusions: In this work we showed that PVD is a common trait of LAMA5 multisystem syndrome, therefore occurring as an age-unrelated trait. We hypothesize that the p.(V3140M) mutation results in a reduction of retinal inner limiting membrane (ILM) stability, leading to a derangement in the macromolecular structure of the vitreous gel, and PVD. Further investigations will be necessary to elucidate the role of wild type and mutated LAMA5 in the pathogenesis of PVD. 相似文献
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Darren R. Feldman MD Yasser Ged MBBS Chung-Han Lee PhD Andrea Knezevic MS Ana M. Molina MD Ying-Bei Chen PhD Joshua Chaim DO Devyn T. Coskey MS Samuel Murray MS Satish K. Tickoo MD Victor E. Reuter MD Sujata Patil PhD Han Xiao MD Jahan Aghalar MD Arlyn J. Apollo MD Maria I. Carlo MD Robert J. Motzer MD Martin H. Voss MD 《Cancer》2020,126(24):5247-5255
5.
A R Molina H Brasch S T Tan 《Journal of plastic, reconstructive & aesthetic surgery》2006,59(12):1458-1462
One serious complication of neurofibromatosis type 1 (NF1) is the development of malignant peripheral nerve sheath tumours (MPNSTs). These malignancies often develop within pre-existing plexiform neurofibromas and their development is now thought to be associated with both tumour suppressor gene mutations and dysregulated growth factor signalling. Recent work demonstrates that the lifetime risk of malignant transformation is significantly greater than previously thought. Ionising radiation, a long-standing disease, particularly the presence of a large number of plexiform neurofibromas from an early age, are suggested risk factors. We present an NF1 patient who developed an MPNST of the cervical vagus nerve which was successfully treated with surgery. Close monitoring of patients with NF and a high level of suspicion towards rapidly enlarging and painful swellings is merited as these features may signify malignant transformation. Whether a positive history of MPNST in other affected family members predisposes the individual to a higher risk of malignant transformation is unclear. 相似文献
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Carmen Guillén Ponce María Pilar Garrido López María José Molina Garrido Gema Muñoz Molina Alfredo Carrato 《Clinical & translational oncology》2007,9(1):53-55
Pituitary metastases of solid tumours are infrequent, specially as a first manifestation. When they happen, they are usually
due to breast or lung cancer and are asymptomatic or produce diabetes insipidus. It is very strange that they produce hormonal
deficiency.
We present a case report of a bronchogenic adenocarcinoma in a 65-year-old man which began with panhypopituitarism, diabetes
insipidus and visual alterations. Magnetic resonance imaging revealed a large sellar mass, with clivus infiltration and invading
the right cavernous sinus. The biopsy result was adenocarcinoma metastases from lung cancer. 相似文献
9.
Carlos Sala M.D. Eduardo García-Granero M.D. Ph.D. María J. Molina M.D. Jose V. García M.D. Salvador Lledo M.D. Ph.D. 《Diseases of the colon and rectum》1997,40(8):958-961
PURPOSE: Epidural anesthesia is believed to benefit colorectal anastomotic blood flow because of the sympathetic blockade it produces. Our purpose is to measure with tonometry the effect of epidural anesthesia on colorectal anastomotic oxygenation. PATIENTS AND METHODS: Fifteen patients operated on for rectal cancer (radical anterior resection) were monitored postoperatively using tonometers placed in the stomach (celiac trunk), transverse colon (superior mesenteric artery), and the anastomotic area during the operation. An epidural catheter was placed at L1-2, and on the first postoperative day, 8 ml of bupivacaine (0.25 percent) was administered. The anesthetic effect extended up to T-4. Intramucosal pH (pHi) at the three locations was measured before, during, and after the epidural blockade. RESULTS: Gastric and transverse colon pHi increased during the epidural blockade from 7.35±0.01 to 7.41±0.01 and from 7.34±0.02 to 7.40±0.02, respectively. The anastomotic pHi decreased from 7.3±0.02 to 7.24±0.03 under the epidural and increased up to 7.34±0.02 after withdrawal of the effect on the following day. All pHi variations were statistically significant (P<0.05, paired Student'st-test and Wilcoxon's test), because it was the comparison between gastric and transverse colon pHi with the anastomotic pHi during the epidural (P<0.05, one-way analysis of variance and Kruskal-Wallis tests). None of the patients developed anastomotic or other complications. CONCLUSIONS: Epidural anesthesia with bupivacaine causes a significant decrease in the oxygenation-perfusion state of colorectal anastomosis in comparison with the increase in other areas of the digestive tract. Further studies need to be done to see if other epidural anesthetic-analgesic protocols also worsen colorectal anastomotic blood flow.Supported in part by a grant from the Spanish Society of Digestive Diseases, Madrid, Spain. All tonometric catheters and drugs were donated by the Clinic University Hospital of Valencia, Spain.Read at the meeting of The American Society of Colon and Rectal Surgeons, Seattle, Washington, June 9 to 14, 1996. 相似文献
10.
Hospital outbreak caused by a carbapenem-resistant strain of Acinetobacter baumannii: patient prognosis and risk-factors for colonisation and infection 总被引:10,自引:0,他引:10
M. del Mar Tomas M. Cartelle S. Pertega A. Beceiro P. Llinares D. Canle F. Molina R. Villanueva J. M. Cisneros G. Bou 《Clinical microbiology and infection》2005,11(7):540-546
Between October 2001 and August 2002, 30 hospital patients became infected or colonised by a multiresistant (including to carbapenems) epidemic strain of Acinetobacter baumannii (AbMR) in a hospital outbreak. This study analysed the risk-factors associated with acquisition of this epidemic strain and investigated the prognosis of patients infected by AbMR, with the aim of elucidating factors which lead to mortality. A case-control study of the acquisition of AbMR in patients infected or colonised in the hospital outbreak was performed. Independent risk-factors leading to death were studied by logistic regression analysis. Multivariate analysis of the risk-factors for colonisation/infection with AbMR revealed an independent association with the presence of an arterial catheter (OR, 1.13; 95% CI, 1.03-1.25) and administration of imipenem as monotherapy (OR, 11.12; 95% CI, 2.33-53.09). Multivariate analysis of the prognostic features leading to mortality revealed a significant association with hypotension or shock (OR, 24.63; 95% CI, 1.56-387.56) at the time of bacterial isolation. 相似文献