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3.
Sci Rep ; 7: 41677, 2017 01 31.
Article in English | MEDLINE | ID: mdl-28139749

ABSTRACT

Patients with multiple primary cancers (MPCs) are suspected to have a hereditary cancer syndrome. However, only a small proportion may be explained by mutations in high-penetrance genes. We investigate two unrelated MPC patients that met Hereditary Breast and Ovaria Cancer criteria, both presenting triple negative breast tumors and no mutations in BRCA1, BRCA2 and TP53 genes. Germline rearrangements on chromosome 7q, involving over 40 Mb of the same region, were found in both patients: one with mosaic loss (80% of cells) and the other with cnLOH (copy-neutral loss of heterozygosity) secondary to maternal allele duplication. Five children tested had no alterations on 7q. The patients shared 330 genes in common on 7q22.1-q34, including several tumor suppressor genes (TSGs) previously related to breast cancer risk and imprinted genes. The analysis of the triple negative BC from one patient revealed a mosaic gain of 7q translated for over-expressed cancer-related genes. The involvement of TSGs and imprinted genes, mapped on 7q, has the potential of being associated to MPC risk, as well as cancer progression. To our knowledge, this is the first description of patients with MPCs that harbor constitutive large alterations on 7q.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 7 , Genomics , Germ-Line Mutation , Neoplasms, Multiple Primary/genetics , Adult , Female , Gene Expression Profiling , Genes, BRCA1 , Genes, BRCA2 , Genetic Predisposition to Disease , Genomics/methods , Humans , Male , Middle Aged , Mutation , Pedigree , Polymorphism, Single Nucleotide , Transcriptome , Tumor Suppressor Protein p53/genetics
5.
J Chemother ; 21(3): 311-6, 2009 Jun.
Article in English | MEDLINE | ID: mdl-19567352

ABSTRACT

In randomized studies linezolid, indicated for Gram-positive infections, was as effective as teicoplanin in critical ill patients or was superior to teicoplanin in skin infection, pneumonia and bacteremia. We performed a 2-year comparative, retrospective study of patients treated with linezolid or teicoplanin in a single hospital for the same indications. We collected information about the type of infection, the responsible pathogen, therapy administered before study drugs, antibiotic associated with the study drugs, length of hospital stay (LOS), adverse events and outcome of the infections. The aim of the study was to evaluate the efficacy of linezolid in this retrospective patients series. Overall we identified 169 patients treated with linezolid and 91 with teicoplanin. Response to therapy, (resolution or improvement of infection) was better in patients treated with linezolid compared to teicoplanin (83.9% versus 69.2%, p=0.002). Response to therapy by type of pathogen showed the superior efficacy of linezolid against Staphylococcus aureus (including MRSA) and enterococci; although not statistically significant because of the small number of patients enrolled, they were close to significance (p<0.056 for S. aureus, p<0.055 for MRSA, p<0.061 for enterococci). Overall LOS in linezolid-treated patients was 4.6 days (p<0.041) less. Empirical use of linezolid reduced lOS by 6 days (p<0.038), especially in VAP and bacteremia patients (p<0.05). Mortality due to infection was 9.8% in both groups, and adverse events were most frequently documented in linezolid-treated patients. Linezolid was clinically superior to teicoplanin in the treatment of Gram-positive infections.


Subject(s)
Acetamides/therapeutic use , Anti-Infective Agents/therapeutic use , Gram-Positive Bacterial Infections/drug therapy , Oxazolidinones/therapeutic use , Teicoplanin/therapeutic use , Acetamides/adverse effects , Adult , Aged , Female , Humans , Length of Stay , Linezolid , Male , Middle Aged , Oxazolidinones/adverse effects , Pneumonia, Bacterial/drug therapy , Pneumonia, Ventilator-Associated/drug therapy , Retrospective Studies , Teicoplanin/adverse effects
6.
Medicina (B.Aires) ; 66(4): 335-337, 2006.
Article in Spanish | LILACS | ID: lil-449011

ABSTRACT

El síndrome de cefalea y déficit neurológico transitorio con pleocitosis en el liquido cefalorraquídeoo pseudomigraña con síntomas neurológicos temporarios y pleocitosis linfocítica (HaNLD), es uncuadro de cefaleas recurrentes, déficit neurológico reversible y pleocitosis linfocitaria en el líquido cefalorraquídeo(LCR), de duración variable y resolución espontánea. Si bien se han propuesto múltiples mecanismosetiopatogénicos (vascular, infeccioso, inmunológico y alteración de los canales de calcio), su etiología es aúndesconocida. Describimos el caso de una mujer de 28 años de edad, con episodios recurrentes de migraña conpleocitosis, síndrome confusional y déficit neurológico transitorio, con remisión clínica dentro de los dos meses.Si bien la etiología sigue siendo desconocida. Presentamos los diagnósticos diferenciales a tener en cuenta ante este síndrome


The syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis or pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis (HaNDL) is a syndrome consisting of recurrent headaches, reversible neurological deficit, lymphocytic pleocytosis in cerebrospinal fluid (CSF), variable duration over time and spontaneous resolution. Although several etiopathogenic mechanisms have been suggested (vascular, infectous, immunological and calciumchannelopthy), its etiology remains unknown. We describe a 28 year old female, with recurrent migrainewith pleocytosis, confusional syndrome and transient neurological deficit. The clinical remission was achievedwithin two months. Although its etiology remains unknown the differential diagnosis is discussed in order to keepin mind this syndrome


Subject(s)
Female , Humans , Adult , Lymphocytosis/cerebrospinal fluid , Migraine Disorders/cerebrospinal fluid , Aphasia/diagnosis , Diagnosis, Differential , Lymphocyte Count , Lymphocytosis/blood , Lymphocytosis/etiology , Syndrome , Migraine Disorders/blood , Migraine Disorders/etiology
7.
Medicina (B.Aires) ; 66(4): 335-337, 2006.
Article in Spanish | BINACIS | ID: bin-123210

ABSTRACT

El síndrome de cefalea y déficit neurológico transitorio con pleocitosis en el liquido cefalorraquídeoo pseudomigraña con síntomas neurológicos temporarios y pleocitosis linfocítica (HaNLD), es uncuadro de cefaleas recurrentes, déficit neurológico reversible y pleocitosis linfocitaria en el líquido cefalorraquídeo(LCR), de duración variable y resolución espontánea. Si bien se han propuesto múltiples mecanismosetiopatogénicos (vascular, infeccioso, inmunológico y alteración de los canales de calcio), su etiología es aúndesconocida. Describimos el caso de una mujer de 28 años de edad, con episodios recurrentes de migraña conpleocitosis, síndrome confusional y déficit neurológico transitorio, con remisión clínica dentro de los dos meses.Si bien la etiología sigue siendo desconocida. Presentamos los diagnósticos diferenciales a tener en cuenta ante este síndrome(AU)


The syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis or pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis (HaNDL) is a syndrome consisting of recurrent headaches, reversible neurological deficit, lymphocytic pleocytosis in cerebrospinal fluid (CSF), variable duration over time and spontaneous resolution. Although several etiopathogenic mechanisms have been suggested (vascular, infectous, immunological and calciumchannelopthy), its etiology remains unknown. We describe a 28 year old female, with recurrent migrainewith pleocytosis, confusional syndrome and transient neurological deficit. The clinical remission was achievedwithin two months. Although its etiology remains unknown the differential diagnosis is discussed in order to keepin mind this syndrome(AU)


Subject(s)
Female , Humans , Adult , Lymphocytosis/cerebrospinal fluid , Migraine Disorders/cerebrospinal fluid , Aphasia/diagnosis , Diagnosis, Differential , Lymphocyte Count , Lymphocytosis/blood , Lymphocytosis/etiology , Migraine Disorders/blood , Migraine Disorders/etiology , Syndrome
8.
Medicina (B.Aires) ; 66(4): 335-337, 2006.
Article in Spanish | BINACIS | ID: bin-119216

ABSTRACT

El síndrome de cefalea y déficit neurológico transitorio con pleocitosis en el liquido cefalorraquídeoo pseudomigraña con síntomas neurológicos temporarios y pleocitosis linfocítica (HaNLD), es uncuadro de cefaleas recurrentes, déficit neurológico reversible y pleocitosis linfocitaria en el líquido cefalorraquídeo(LCR), de duración variable y resolución espontánea. Si bien se han propuesto múltiples mecanismosetiopatogénicos (vascular, infeccioso, inmunológico y alteración de los canales de calcio), su etiología es aúndesconocida. Describimos el caso de una mujer de 28 años de edad, con episodios recurrentes de migraña conpleocitosis, síndrome confusional y déficit neurológico transitorio, con remisión clínica dentro de los dos meses.Si bien la etiología sigue siendo desconocida. Presentamos los diagnósticos diferenciales a tener en cuenta ante este síndrome(AU)


The syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis or pseudomigraine with temporary neurological symptoms and lymphocytic pleocytosis (HaNDL) is a syndrome consisting of recurrent headaches, reversible neurological deficit, lymphocytic pleocytosis in cerebrospinal fluid (CSF), variable duration over time and spontaneous resolution. Although several etiopathogenic mechanisms have been suggested (vascular, infectous, immunological and calciumchannelopthy), its etiology remains unknown. We describe a 28 year old female, with recurrent migrainewith pleocytosis, confusional syndrome and transient neurological deficit. The clinical remission was achievedwithin two months. Although its etiology remains unknown the differential diagnosis is discussed in order to keepin mind this syndrome(AU)


Subject(s)
Female , Humans , Adult , Lymphocytosis/cerebrospinal fluid , Migraine Disorders/cerebrospinal fluid , Aphasia/diagnosis , Diagnosis, Differential , Lymphocyte Count , Lymphocytosis/blood , Lymphocytosis/etiology , Migraine Disorders/blood , Migraine Disorders/etiology , Syndrome
9.
Ophthalmic Plast Reconstr Surg ; 19(2): 160-1, 2003 Mar.
Article in English | MEDLINE | ID: mdl-12644768

ABSTRACT

An 80-year-old woman presented with a palpable mass in the central right lower eyelid, with no visible alterations of the overlying skin or eyelid margin, and no signs of inflammation. Eversion of the eyelid revealed an ulcerating lesion approximately 8 mm in diameter, suggesting malignant lesion. Excision with eyelid reconstruction using the Hughes technique was performed. Histopathological analysis revealed a diffuse infiltrate with large atypical lymphocytes. Borders of the surgical resection were free from infiltration. Histochemical staining of the proliferating cells with monoclonal antibodies was positive for CD20 and CD79a, and polyclonal antibodies were positive for Lambda chains, confirming a diffuse large B-cell lymphoma. After 24 months' follow-up there has been no local or systemic recurrence of the disease. Lymphoma may present as an ulcerating lesion of the tarsal conjunctiva. Complete surgical excision, with no evidence of systemic disease, may be considered to carry a good prognosis and survival.


Subject(s)
Eyelid Neoplasms/pathology , Lymphoma, B-Cell/pathology , Lymphoma, Large B-Cell, Diffuse/pathology , Aged , Aged, 80 and over , Biomarkers, Tumor/analysis , Eyelid Neoplasms/chemistry , Eyelid Neoplasms/surgery , Female , Humans , Lymphoma, B-Cell/chemistry , Lymphoma, B-Cell/surgery , Lymphoma, Large B-Cell, Diffuse/chemistry , Lymphoma, Large B-Cell, Diffuse/surgery
10.
Arch Soc Esp Oftalmol ; 77(5): 275-8, 2002 May.
Article in Spanish | MEDLINE | ID: mdl-12023747

ABSTRACT

CASE REPORT: A 41-year-old man presented a clinical picture characterized by lymphocytic meningoencephalitis, visual loss in both eyes and transverse sinus thrombosis. This picture was treated with prednisone and anticoagulation. Fundus examination showed complete occlusive arteritis, periphlebitis, peripheral ischemia and perfusion macular defects affecting both eyes. The picture was suggestive of Behçet's disease. Azathioprine was added to the treatment without improvement in visual acuity. Four months later oral aphthous ulcers developed, confirming the suspected diagnosis. DISCUSSION: Behçet's disease may appear with the sudden onset of visual loss secondary to massive occlusive retinal vasculitis. The critical state of neuro-Behçet disease may delay the diagnosis. This combination of visual and neurological symptoms is associated with a poor visual prognosis (Arch Soc Esp Oftalmol 2002; 77: 275-278).


Subject(s)
Behcet Syndrome/complications , Blindness/etiology , Meningoencephalitis/etiology , Adult , Behcet Syndrome/diagnosis , Humans , Male , Time Factors
11.
Arch. Soc. Esp. Oftalmol ; 77(5): 275-278, mayo 2002.
Article in Es | IBECS | ID: ibc-12813

ABSTRACT

Caso clínico: Paciente varón de 41 años debuta con cuadro de meningoencefalitis linfocitaria y pérdida visual bilateral, además de trombosis del seno transverso, iniciándose tratamiento mediante prednisona y anticoagulación. A nivel retiniano se apreció una arteritis oclusiva, signos de periflebitis, isquemia periférica y falta de perfusión macular en ambos ojos. El cuadro fue sugerente de enfermedad de Behçet añadiéndose Azatioprina a la terapéutica sistémica sin objetivarse mejoría visual. Cuatro meses más tarde el paciente desarrolló aftas orales lo que ayudó a confirmar el diagnóstico. Discusión: La enfermedad de Behçet puede debutar con pérdida súbita de la visión secundaria a una oclusión arterítica retiniana masiva. El estado crítico del debut como neuro-Behçet puede hacer retrasar el diagnóstico. Esta asociación conlleva un mal pronóstico visual (AU)


Subject(s)
Adult , Male , Humans , Time Factors , Meningoencephalitis , Behcet Syndrome , Blindness
12.
Int Ophthalmol ; 20(4): 181-5, 1996.
Article in English | MEDLINE | ID: mdl-9112184

ABSTRACT

We studied the presence of apolipoprotein B (apo B) by immunoelectrophoresis in subretinal fluid (SRF) and serum from 15 rhegmatogenous retinal detachments and 5 retinal detachments with proliferative vitreoretinopathy (PVR). Apo B concentration +/- standard deviation was 1.49 +/- 1.06 mg/dl in SRF and 108.41 +/- 40.22 mg/dl in serum. Only in four cases was apo B not detected in SRF. We found no significant correlation between apo B concentrations in SRF and apo B levels in serum. We did not find a positive correlation between apo B concentrations in SRF and the duration and size of the detachments. There was no statistical relationship between the presence of PVR and apo B levels. This phenomenon suggests the preservation of the outer blood retinal barrier during rhegmatogenous retinal detachment.


Subject(s)
Apolipoproteins B/analysis , Body Fluids/chemistry , Adult , Aged , Aged, 80 and over , Apolipoproteins B/blood , Blood-Retinal Barrier/physiology , Exudates and Transudates/chemistry , Female , Humans , Immunoelectrophoresis/methods , Male , Middle Aged , Retinal Detachment/etiology , Retinal Detachment/metabolism , Sensitivity and Specificity , Vitreoretinopathy, Proliferative/complications , Vitreoretinopathy, Proliferative/metabolism
13.
Riv Inferm ; 9(4): 172-8, 1990.
Article in Italian | MEDLINE | ID: mdl-2127128

ABSTRACT

Reasons why nurses left a general Hospital were analyzed through a questionnaire sent to all nurses who abandoned their position over the last 5 years (218). 50.6% of these nurses do not live in Lombardy region. 127 (57.7%) answered the questionnaire. 35% of whom answered the questionnaire would get back to work in the hospital. The main reason for hospital leave is related to family reasons (children and parents) for registered nurses and to shift work state enrolled nurses. Low salary is the main problem for 21-30 years old nurses. According to nurses who answered the questionnaire, more efficient recruitment and retention strategies should include higher salaries, riqualification of the profession in general and improvement of working conditions and organization.


Subject(s)
Hospitals, Community , Nursing Staff, Hospital/statistics & numerical data , Personnel Turnover/statistics & numerical data , Adult , Hospitals, Community/statistics & numerical data , Humans , Italy , Job Satisfaction , Motivation , Socioeconomic Factors , Surveys and Questionnaires , Workforce
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