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1.
Pulmonology ; 2022 Jun 13.
Article in English | MEDLINE | ID: mdl-35710714

ABSTRACT

Lung transplantation can improve the survival of patients with severe chronic pulmonary disorders. However, the short- and long-term risk of infections can increase morbidity and mortality rates. A non-systematic review was performed to provide the most updated information on pathogen, host, and environment-related factors associated with the occurrence of bacterial, fungal, and viral infections as well as the most appropriate therapeutic options. Bacterial infections account for about 50% of all infectious diseases in lung transplanted patients, while viruses represent the second cause of infection accounting for one third of all infections. Almost 10% of patients develop invasive fungal infections during the first year after lung transplant. Pre-transplantation comorbidities, disruption of physical barriers during the surgery, and exposure to nosocomial pathogens during the hospital stay are directly associated with the occurrence of life-threatening infections. Empiric antimicrobial treatment after the assessment of individual risk factors, local epidemiology of drug-resistant pathogens and possible drug-drug interactions can improve the clinical outcomes.

2.
Eur Rev Med Pharmacol Sci ; 25(21): 6813-6824, 2021 11.
Article in English | MEDLINE | ID: mdl-34787885

ABSTRACT

OBJECTIVE: The aim of the study was to appraise the capacity of serum aminotransferases to discriminate between hepatic and other extra-pulmonary COVID-19-related manifestations and, potentially, to serve as predictors of poor clinical outcomes. MATERIALS AND METHODS: Ninety-eight studies were identified (79% from China), including 43,554 patients (57% males), 9,983 (62% males) with poor outcomes and 33,571 (50% males) with favorable outcomes. After splitting studies depending on whether serum alanine aminotransferase (ALT) concentrations were statistically different between patients with poor vs. favorable outcomes, the 35 'hepatic involvement' articles (p<0.05) included 28,510 patients (51% males), 5,279 (66% males) and 23,231 subjects (48% males) with poor and favorable outcomes, respectively. The 63 'extra-hepatic involvement' studies (p>0.05) included 15,044 patients (54% males), 4,704 (60% males) with poor outcomes and 10,340 (51% males) with favorable outcomes. RESULTS: The meta-analysis shows that serum aspartate aminotransferase (AST) concentrations were significantly higher in patients with poor outcomes than those with favorable outcomes (WMD 12.5 UI/L, 95% CI 10.9 to 14.1 p<0.001). Similarly, AST concentrations were significantly higher in the 'hepatic involvement' studies (WMD 16.3 UI/L, 95% CI 13.4 to 19.2 p<0.001) and in the 'extra-hepatic involvement' studies (WMD 10.3 UI/L, 95% CI 8.6 to 12.0 p<0.001). CONCLUSIONS: The different association of serum AST concentrations with some clinical, demographic, and biochemical factors in the two clusters suggests that in COVID-19 patients, serum AST elevation is not necessarily linked to real liver damage.


Subject(s)
Alanine Transaminase/blood , Aspartate Aminotransferases/blood , COVID-19/pathology , COVID-19/therapy , COVID-19/virology , Databases, Factual , Humans , SARS-CoV-2/isolation & purification , Treatment Outcome
3.
J Electr Bioimpedance ; 12(1): 3-10, 2021 Jan.
Article in English | MEDLINE | ID: mdl-34413917

ABSTRACT

A portable electrical impedance spectroscopy device was developed to monitor the bioimpedance resistive component of bovine meat by injecting a sinusoidal current of 1 mA at 65 kHz. Both right and left longissimus dorsi muscles were trimmed from 4 slaughtered cows. The left muscle portions were frozen to -18 °C for 7 days while the right ones were meantime maintained at 5 °C. Mean value of impedance per length (Ω/cm) of frozen and thawed left samples was 31% lower than that of right non-frozen one (P = 0.0001). It was concluded that the device is reliable for monitoring the maturation of beef meat in situ with the possibility of revealing undeclared freeze-thaw cycles.

4.
J Laryngol Otol ; 135(8): 723-728, 2021 Aug.
Article in English | MEDLINE | ID: mdl-34184623

ABSTRACT

OBJECTIVE: To analyse the correlations between olfactory psychophysical scores and the serum levels of D-dimer, C-reactive protein, ferritin, lactate dehydrogenase, procalcitonin and neutrophil-to-lymphocyte ratio in coronavirus disease 2019 patients. METHODS: Patients underwent psychophysical olfactory assessment with the Connecticut Chemosensory Clinical Research Center test, and determination of blood serum levels of the inflammatory markers D-dimer, C-reactive protein, ferritin, lactate dehydrogenase, procalcitonin and neutrophil-to-lymphocyte ratio within 10 days of the clinical onset of coronavirus disease 2019 and 60 days after. RESULTS: Seventy-seven patients were included in this study. D-dimer, procalcitonin, ferritin and neutrophil-to-lymphocyte ratio correlated significantly with severe coronavirus disease 2019. No significant correlations were found between baseline and 60-day Connecticut Chemosensory Clinical Research Center test scores and the inflammatory markers assessed. CONCLUSION: Olfactory disturbances appear to have little prognostic value in predicting the severity of coronavirus disease 2019 compared to D-dimer, ferritin, procalcitonin and neutrophil-to-lymphocyte ratio. The lack of correlation between the severity and duration of olfactory disturbances and serum levels of inflammatory markers seems to further suggest that the pathogenetic mechanisms underlying the loss of smell in coronavirus disease 2019 patients are related to local rather than systemic inflammatory factors.


Subject(s)
COVID-19/pathology , Olfaction Disorders/etiology , Aged , Biomarkers/blood , C-Reactive Protein/analysis , COVID-19/blood , COVID-19/complications , Female , Ferritins/blood , Fibrin Fibrinogen Degradation Products/analysis , Humans , Inflammation/blood , L-Lactate Dehydrogenase/blood , Lymphocyte Count , Male , Middle Aged , Olfaction Disorders/blood , Olfaction Disorders/pathology , Procalcitonin/blood , Severity of Illness Index
5.
Eur Rev Med Pharmacol Sci ; 25(1): 523-526, 2021 Jan.
Article in English | MEDLINE | ID: mdl-33506944

ABSTRACT

OBJECTIVE: Since the start of the COVID-19 pandemic, millions of people have been infected with thousands of deaths. Few data regarding factors that increase the risk of infection are available. Our study aimed to evaluate all people living in retirement homes (PLRNH) and identify factors that could increase infection risk in a close community. MATERIALS AND METHODS: We conducted a retrospective study enrolling all PLRNH, where at least one SARS-CoV-2 infected person was present. Variables were compared with Student's t-test or Pearson chi-square test as appropriate. Uni- and multivariate analyses were conducted to evaluate variables' influence on the infection. RESULTS: We included 452 PLRNH; 144 (31.7%) were male, with a mean age of 82.2±8.6 years. People with a positive swab for SARS-CoV-2 were 306 (67.4%). A significant difference between SARS-CoV-2 infected and not infected was observed in the percentage of those receiving chronic treatment with Angiotensin II receptor blockers (ARBs) (18.6% vs. 9.5%, p=0.012). On the contrary, there was no difference in the proportion of those receiving ACE inhibitors (ACE-I) (21.2% vs. 23.6%, p=0.562). At multivariate analysis, people with mental illness and cancer had an increased risk of being infected. Furthermore, receiving ARBs as a chronic treatment was an independent predictor of infection risk [OR 1.95 (95% CI 1.03-3.72) p=0.041]. CONCLUSIONS: Our data suggest that, in close communities, such as retirement nursing homes, the receipt of ARBs increased the risk of acquiring SARS-CoV-2 infection. However, before changing an important chronic treatment in a fragile population, such as the elderly living in retirement nursing homes, clinicians should carefully evaluate the risk-benefit ratio.


Subject(s)
Angiotensin Receptor Antagonists/therapeutic use , Angiotensin-Converting Enzyme Inhibitors/therapeutic use , COVID-19/epidemiology , SARS-CoV-2 , Aged, 80 and over , Angiotensin Receptor Antagonists/administration & dosage , Angiotensin Receptor Antagonists/adverse effects , Angiotensin-Converting Enzyme Inhibitors/administration & dosage , Angiotensin-Converting Enzyme Inhibitors/adverse effects , COVID-19/transmission , Drug Utilization , Female , Homes for the Aged/statistics & numerical data , Humans , Male , Nursing Homes/statistics & numerical data , Pandemics , Retrospective Studies , Risk Assessment
6.
J Eur Acad Dermatol Venereol ; 29(6): 1180-7, 2015 Jun.
Article in English | MEDLINE | ID: mdl-25363318

ABSTRACT

BACKGROUND: Studies on the prevalence of eczema and atopic dermatitis (AD), and on the factors associated with these diseases, have been mostly performed in children, whereas studies on adult populations are lacking. OBJECTIVES: To determine the prevalence of eczema and AD in the Italian adult population, and to investigate risk factors associated with the disease. METHODS: A postal screening questionnaire was administered to 18 357 randomly selected subjects aged 20-44 years in the Gene-Environment Interaction in Respiratory Diseases study, which involved seven centres distributed across northern, central and southern Italy. The questionnaire included items on the occurrence of doctor-diagnosed eczema, asthma and hay fever, socio-demographic characteristics and environmental exposures. RESULTS: In all, 10 464 (57.0%) subjects responded to the questionnaire. The prevalence of current eczema was 8.1% (95% CI: 7.6-8.7%), while the prevalence of eczema with asthma and/or hay fever (EAH), which was adopted as proxy of AD, was 3.4% (95% CI: 3.1-3.8%). About 60% of the subjects with current eczema reported the onset of the disease in adulthood. In multi-variable models, the prevalence of eczema was significantly associated with female sex, older age, living close to industrial plants, high levels of heavy traffic near home and living in central-southern Italy. CONCLUSIONS: Eczema and EAH are highly prevalent in Italian young adults, especially in women. Our results suggest that adult onset is not unusual, and that environmental factors may influence the occurrence of eczema and EAH.


Subject(s)
Asthma/epidemiology , Dermatitis, Atopic/epidemiology , Eczema/epidemiology , Rhinitis, Allergic, Seasonal/epidemiology , Adult , Age of Onset , Climate , Comorbidity , Female , Gene-Environment Interaction , Health Surveys , Humans , Italy/epidemiology , Male , Motor Vehicles , Prevalence , Residence Characteristics , Risk Factors , Sex Factors , Young Adult
7.
Infection ; 41(2): 347-53, 2013 Apr.
Article in English | MEDLINE | ID: mdl-22971938

ABSTRACT

PURPOSE: The objective of our study was to evaluate the presence of respiratory symptoms and chronic obstructive pulmonary disease (COPD) in a human immunodeficiency virus (HIV)-infected outpatient population and to further investigate the role of highly active antiretroviral therapy (HAART) and other possibly associated risk factors. METHODS: We consecutively enrolled in a cross-sectional study HIV-infected patients and HIV-negative age, sex and smoking status matched controls. All participants completed a questionnaire for pulmonary symptoms and underwent a complete spirometry. RESULTS: We enrolled 111 HIV-infected patients and 65 HIV-negative age- and sex-matched controls. HIV-infected patients had a significantly higher prevalence of any respiratory symptom (p = 0.002), cough (p = 0.006) and dyspnoea (p = 0.02). HIV-infected patients also had a significantly higher prevalence of COPD in respect of HIV-negative controls (p = 0.008). Furthermore, HIV-infected individuals had significantly (p = 0.002) lower forced expiratory volume at one second (FEV1) and FEV1/forced vital capacity (FVC) ratio (Tiffeneau index) (p = 0.028), whereas the total lung capacity (TLC) was significantly higher (p = 0.018). In the multivariate analysis, significant predictors of respiratory symptoms were current smoking [adjusted odds ratio (AOR) 11.18; 95 % confidence interval (CI) 3.89-32.12] and previous bacterial pneumonia (AOR 4.41; 95 % CI 1.13-17.13), whereas the only significant predictor of COPD was current smoking (AOR 5.94; 95 % CI 1.77-19.96). HAART receipt was not associated with respiratory symptoms nor with COPD. CONCLUSIONS: We evidenced a high prevalence of respiratory symptoms and COPD among HIV-infected patients. HIV infection, current cigarette smoking and previous bacterial pneumonia seem to play a significant role in the development of respiratory symptoms and COPD. Thus, our results suggest that the most at-risk HIV-infected patients should be screened for COPD to early identify those who may need specific treatment.


Subject(s)
Antiretroviral Therapy, Highly Active , HIV Infections/epidemiology , Pulmonary Disease, Chronic Obstructive/epidemiology , Pulmonary Disease, Chronic Obstructive/virology , Adult , Case-Control Studies , Comorbidity , Confidence Intervals , Cross-Sectional Studies , Female , Forced Expiratory Volume , HIV Infections/drug therapy , HIV Protease Inhibitors/pharmacology , Humans , Lung/pathology , Male , Middle Aged , Multivariate Analysis , Odds Ratio , Prevalence , Risk Factors , Ritonavir/pharmacology , Smoking/adverse effects , Spirometry , Surveys and Questionnaires , Total Lung Capacity
8.
Eur Respir J ; 39(4): 883-92, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22005911

ABSTRACT

The prevalence of asthma increased worldwide until the 1990s, but since then there has been no clear temporal pattern. The present study aimed to assess time trends in the prevalence of current asthma, asthma-like symptoms and allergic rhinitis in Italian adults from 1990 to 2010. The same screening questionnaire was administered by mail or phone to random samples of the general population (age 20-44 yrs) in Italy, in the frame of three multicentre studies: the European Community Respiratory Health Survey (ECRHS) (1991-1993; n = 6,031); the Italian Study on Asthma in Young Adults (ISAYA) (1998-2000; n = 18,873); and the Gene Environment Interactions in Respiratory Diseases (GEIRD) study (2007-2010; n = 10,494). Time trends in prevalence were estimated using Poisson regression models in the centres that repeated the survey at different points in time. From 1991 to 2010, the median prevalence of current asthma, wheezing and allergic rhinitis increased from 4.1% to 6.6%, from 10.1% to 13.9% and from 16.8% to 25.8%, respectively. The prevalence of current asthma was stable during the 1990s and increased (relative risk 1.38, 95% CI 1.19-1.59) from 1998-2000 to 2007-2010, mainly in subjects who did not report allergic rhinitis. The prevalence of allergic rhinitis has increased continuously since 1991. The asthma epidemic is not over in Italy. During the past 20 yrs, asthma prevalence has increased by 38%, in parallel with a similar increase in asthma-like symptoms and allergic rhinitis.


Subject(s)
Asthma/epidemiology , Rhinitis, Allergic, Perennial/epidemiology , Rhinitis, Allergic, Seasonal/epidemiology , Adult , Cross-Sectional Studies , Female , Humans , Italy/epidemiology , Male , Prevalence , Respiratory Sounds , Smoking/epidemiology , Surveys and Questionnaires , Young Adult
9.
Int J STD AIDS ; 22(4): 234-5, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21515759

ABSTRACT

The clinical severity of human infection with the novel influenza virus A/H1N1v has not been completely defined, especially in HIV/hepatitis C virus (HCV) infected patients. Although most patients develop mild to moderate symptoms, severe disease may occur in a limited proportion of cases. We report the case of a 44-year-old man infected with HIV and HCV with a high CD4 cell count who developed acute respiratory distress syndrome associated with influenza virus A/H1N1v infection. The patient recovered completely after oseltamivir therapy and mechanical ventilation.


Subject(s)
HIV Infections/complications , Hepatitis C/complications , Influenza A Virus, H1N1 Subtype/pathogenicity , Respiratory Distress Syndrome/complications , Respiratory Distress Syndrome/virology , Adult , Antiviral Agents/therapeutic use , HIV Infections/drug therapy , HIV Infections/virology , HIV-1/drug effects , Hepacivirus/drug effects , Hepatitis C/drug therapy , Hepatitis C/virology , Humans , Influenza A Virus, H1N1 Subtype/drug effects , Lung/pathology , Male , Oseltamivir/therapeutic use , Respiratory Distress Syndrome/drug therapy , Respiratory Distress Syndrome/pathology , Treatment Outcome
10.
Int Arch Allergy Immunol ; 152(3): 255-63, 2010.
Article in English | MEDLINE | ID: mdl-20150743

ABSTRACT

The role of genetic and environmental factors, as well as their interaction, in the natural history of asthma, allergic rhinitis and chronic obstructive pulmonary disease (COPD) is largely unknown. This is mainly due to the lack of large-scale analytical epidemiological/genetic studies aimed at investigating these 3 respiratory conditions simultaneously. The GEIRD project is a collaborative initiative designed to collect information on biomarkers of inflammation and oxidative stress, individual and ecological exposures, diet, early-life factors, smoking habits, genetic traits and medication use in large and accurately defined series of asthma, allergic rhinitis and COPD phenotypes. It is a population-based multicase-control design, where cases and controls are identified through a 2-stage screening process (postal questionnaire and clinical examination) in pre-existing cohorts or new samples of subjects. It is aimed at elucidating the role that modifiable and genetic factors play in the occurrence, persistence, severity and control of inflammatory airway diseases, by way of the establishment of a historical multicentre standardized databank of phenotypes, contributed by and openly available to international epidemiologists. Researchers conducting population-based surveys with standardized methods may contribute to the public-domain case-control database, and use the resulting increased power to answer their own scientific questions.


Subject(s)
Environment , Epidemiologic Research Design , Respiratory Tract Diseases/epidemiology , Respiratory Tract Diseases/genetics , Asthma/epidemiology , Asthma/genetics , Bias , Case-Control Studies , Data Collection , Data Interpretation, Statistical , Databases, Factual , Environmental Pollution , Female , Housing , Humans , Italy/epidemiology , Longitudinal Studies , Male , Nutrition Surveys , Phenotype , Public Sector , Pulmonary Disease, Chronic Obstructive/epidemiology , Pulmonary Disease, Chronic Obstructive/genetics , Rhinitis, Allergic, Perennial/epidemiology , Rhinitis, Allergic, Perennial/genetics , Rhinitis, Allergic, Seasonal/epidemiology , Rhinitis, Allergic, Seasonal/genetics , Surveys and Questionnaires
11.
Infection ; 36(3): 231-6, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18463787

ABSTRACT

INTRODUCTION: Highly active antiretroviral therapy (HAART) has deeply modified HIV/AIDS related morbidity and mortality. However, bacterial community acquired pneumonia (BCAP) still represents one of the most frequent causes of morbidity in HIV-infected patients with an inpatient 10% mortality rate. OBJECTIVES: We retrospectively studied the characteristics of BCAP in consecutive HIV-infected inpatients hospitalized from 1999 to 2004 and evaluated the presence of risk factors and the influence of combination antiretroviral therapy receipt on BCAP outcomes. RESULTS: We studied 84 BCAP episodes in 76 HIV-infected inpatients (63 males and 13 females) aged 27-80 years. Thirty-two (42.1%) patients were receiving combination antiretroviral treatment (CART) while 44 (57.9%) were not treated (NART). BCAP incidence progressively increased from 1999 to 2004. The overall percentage of injection drug users was >84%, of smokers >88% and alcohol abusers >32% with no statistical difference between CART and NART. Streptococcus pneumoniae was the most frequently identified pathogen (60%). Time to clinical stability was significantly longer in NART in respect of CART (p=0.011). In multivariate analysis, CDC stage C, CD4 cell count <100 x 10(6) cells/l, and S. pneumoniae etiology were predictors for time to clinical stability >7 days, while receipt of antiretroviral therapy was protective. The percentage of deaths did not differ between CART and NART; most patients had a CD4 count <200 x 10(6) cells/l or severe concomitant diseases. CONCLUSIONS: The incidence of BCAP was high in HIV-infected inpatients observed in the present study mainly due to HIV infection itself, IVDU, alcohol abuse and smoking habit. A longer time to clinical stability was associated with advanced HIV infection and with S. pneumoniae etiology, while receipt of antiretroviral therapy was protective. Injection drug abuse treatment, alcohol abuse and smoking cessation programs, antiretroviral treatment adherence support and pneumococcal vaccination should be implemented to reduce the incidence and to improve the outcomes of BCAP in HIV-infected patients.


Subject(s)
AIDS-Related Opportunistic Infections , Antiretroviral Therapy, Highly Active , Community-Acquired Infections , HIV Infections/complications , Pneumonia, Bacterial , AIDS-Related Opportunistic Infections/epidemiology , AIDS-Related Opportunistic Infections/microbiology , AIDS-Related Opportunistic Infections/mortality , Adult , Aged , Aged, 80 and over , Community-Acquired Infections/complications , Community-Acquired Infections/epidemiology , Community-Acquired Infections/microbiology , Community-Acquired Infections/mortality , Female , HIV Infections/drug therapy , HIV Infections/epidemiology , HIV Infections/virology , HIV-1/drug effects , Humans , Incidence , Italy/epidemiology , Male , Middle Aged , Pneumonia, Bacterial/complications , Pneumonia, Bacterial/epidemiology , Pneumonia, Bacterial/microbiology , Pneumonia, Bacterial/mortality , Risk Factors , Treatment Outcome
12.
Monaldi Arch Chest Dis ; 67(4): 179-83, 2007 Dec.
Article in English | MEDLINE | ID: mdl-18309697

ABSTRACT

BACKGROUND: Up to 30-50% of all lung cancer cases remain without cyto-histological characterisation. The aim of our study was to evaluate retrospectively the proportion of histological and/or cytological diagnosis in patients with lung cancer in Sardinia. METHODS: Data was gathered by consulting the hospital registers and case notes of individual patients released from hospital with a diagnosis of Lung Cancer at all medical centres throughout Sardinia. In gathering patients' data, we focused our attention on cytological and histological procedures through which allowed the lung cancer was diagnosed. Cancer Registries data was utilised to compare our data with national and Sassari province data. RESULTS: From 1991 to 1996 there was a total of 3146 lung cancer patients registered in Sardinia. 1902 patients (60.5%) had a histological diagnosis, 142 patients (4.5%) a cytological diagnosis while in 1102 patients (35%) the diagnosis was performed without any pathological validation. CONCLUSIONS: Our study has shown that lung cancer diagnosis is supported by pathological verification in 65% of cases while in remaining 35% of patients the diagnosis is based only on clinical and radiological reports. In Italy data from Cancer Registries report the percentage of cytohistological diagnosis to be 70% with the percentage of cytological diagnosis being higher than in Sardinia.


Subject(s)
Lung Neoplasms/epidemiology , Lung Neoplasms/pathology , Aged , Female , Humans , Italy/epidemiology , Male , Middle Aged , Retrospective Studies , Sex Distribution
14.
Int J Tuberc Lung Dis ; 9(6): 622-6, 2005 Jun.
Article in English | MEDLINE | ID: mdl-15971388

ABSTRACT

SETTING: Bronchial carcinoma is the most common cause of death among all malignant tumours. Despite a progressive increase, many Italian regions--ours included--do not have a Regional Cancer Registry. OBJECTIVE: To assess lung cancer incidence and mortality rates in Sardinia during the period 1980-1996. METHODS: Data were gathered by consulting hospital registers and the case notes of individual patients released from hospital with a diagnosis of bronchial carcinoma at all Sardinian medical centres between 1980 and 1996. RESULTS: A total of 7734 patients with lung cancer were registered in Sardinia between 1980 and 1996. Data showed a steady increase in lung cancer incidence rates over the years (from 22.3/100000 in 1980 to 34.5 in 1996). The same increase was evident in mortality rates (from 25.7/100000 in 1980 to 42.9 in 1996). The increase in mortality rates was higher in women (+146%) than in men (+59.5%). CONCLUSIONS: Results show a slow but steady increase in lung cancer incidence and mortality rates in Sardinia. The high number of smokers among lung cancer patients seems to indicate that anti-smoking campaigns need to be more effective in Sardinia.


Subject(s)
Lung Neoplasms/epidemiology , Age Distribution , Aged , Carcinoma, Bronchogenic/epidemiology , Carcinoma, Bronchogenic/mortality , Carcinoma, Bronchogenic/pathology , Carcinoma, Bronchogenic/therapy , Female , Humans , Incidence , Italy/epidemiology , Lung Neoplasms/mortality , Lung Neoplasms/pathology , Lung Neoplasms/therapy , Male , Middle Aged , Risk Factors , Sex Distribution , Smoking/epidemiology
15.
Ann Hum Genet ; 68(Pt 6): 633-8, 2004 Nov.
Article in English | MEDLINE | ID: mdl-15598221

ABSTRACT

The R2726W mutation in the fibrillin 1 (FBN1, Marfan syndrome) gene segregates with isolated skeletal features of Marfan syndrome and/or high stature. Here we report a family in which two out of four individuals, an 18-year-old son and his mother, a 41-year-old woman, had the R2726W mutation of FBN1. Both family members carrying the mutation were of average height. The son had a Marfan-like phenotype, but his mother did not. The FBN1 R2776W mutation, which is associated with skeletal features of Marfan syndrome, appears incompletely penetrant. Consequently, genetic counselling in the presence of this mutation is difficult.


Subject(s)
Amino Acid Substitution , Marfan Syndrome/genetics , Microfilament Proteins/genetics , Penetrance , Adolescent , Adult , Female , Fibrillin-1 , Fibrillins , Humans , Male , Marfan Syndrome/physiopathology , Microfilament Proteins/metabolism , Pedigree
17.
Epilepsia ; 42(10): 1308-15, 2001 Oct.
Article in English | MEDLINE | ID: mdl-11737165

ABSTRACT

PURPOSE: To further explore the still controversial issues regarding whether all or most candidates for epilepsy surgery should be investigated preoperatively with invasive long-term video-EEG monitoring techniques (ILTVE). METHODS: We studied five patients with intractable seizures since early childhood using the same protocol: clinical evaluation, magnetic resonance imaging (MRI) with fluid-attenuated inversion recovery (FLAIR) sequences, long-term video-EEG (LTVE) monitoring with scalp electroencephalogram (EEG), interictal single photon emission computed tomography (SPECT), positron emission tomography (PET), and neuropsychological testing. The patients' seizures had clinical features suggesting a frontal lobe (FL) origin. MRI scans revealed focal cortical dysplasia (CD) in four patients and a probable gliotic lesion in the fifth. The findings in both PET and SPECT images were congruent with those of the MRI. Scalp LTVE failed to localize the ictal onset, although the data exhibited features suggestive of both CDs and FL seizures. On the basis of these results, surgery was performed with intraoperative corticography, and the cortical area exhibiting the greatest degree of spiking was ablated. RESULTS: Histopathologic study of four of the resected specimens confirmed the presence of CD, whereas in the fifth, there were features consistent with a remote encephaloclastic lesion. There were no postoperative deficits. Seizures in three of the patients were completely controlled at 2-3.5 years of follow-up; a fourth patient is still having a few seizures, which have required reinstitution of pharmacotherapy, and the fifth has obtained > or =70% control. All patients have had significant improvement in psychosocial measures. For comparison, five patients with generally similar clinical and neuroradiologic features to the previous group underwent preoperative ILTVE monitoring. The surgical outcomes between the two groups have not differed significantly. CONCLUSIONS: We conclude that patients with FL epilepsies may be able to undergo successful surgery without preoperative ILTVE monitoring, provided there is high concordance between neuroimaging tests (MRI, SPECT, PET) and the seizure phenotypes, even when routine EEGs and scalp LVTE fail to localize ictal onset unambiguously. The surgical outcomes of these patients generally paralleled those of the other subjects who also had FL epilepsy but who were operated on only after standard ILTVE monitoring.


Subject(s)
Electroencephalography , Epilepsy, Frontal Lobe/surgery , Frontal Lobe/surgery , Monitoring, Ambulatory , Monitoring, Intraoperative , Postoperative Complications/etiology , Adolescent , Adult , Brain Damage, Chronic/diagnosis , Brain Damage, Chronic/physiopathology , Brain Damage, Chronic/surgery , Diagnostic Imaging , Epilepsy, Frontal Lobe/diagnosis , Epilepsy, Frontal Lobe/physiopathology , Female , Follow-Up Studies , Frontal Lobe/pathology , Frontal Lobe/physiopathology , Humans , Male , Postoperative Complications/diagnosis , Postoperative Complications/physiopathology , Treatment Outcome
18.
J Child Neurol ; 16(9): 688-90, 2001 Sep.
Article in English | MEDLINE | ID: mdl-11575612

ABSTRACT

A case of cerebral venous thrombosis caused by undiagnosed homocystinuria is reported. The pitfalls regarding the diagnosis of a potentially medically treatable condition are discussed. Cerebral venous thrombosis in children has a variable type of onset and a multiplicity of causes. This type of pathology, although not frequent, is more common than previously thought. Among the different etiologies, undiagnosed homocystinuria is not routinely considered. We report a case of venous thrombosis of the left transverse cerebral sinus in a girl with drug-resistant partial epilepsy and homocystinuria. This diagnosis was considered and confirmed after the appearance of acute cerebral symptoms caused by venous thrombosis.


Subject(s)
Homocystinuria/diagnosis , Sinus Thrombosis, Intracranial/diagnosis , Child , Cranial Sinuses/pathology , Diagnosis, Differential , Epilepsies, Partial/diagnosis , Female , Homocystinuria/genetics , Humans , Magnetic Resonance Angiography , Magnetic Resonance Imaging , Neurologic Examination
19.
Brain Dev ; 23(5): 306-11, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11504601

ABSTRACT

The objective of this study was to present clinical and electroencephalographic findings in 18 cases with late infantile neuronal ceroid lipofuscinoses, focusing on features that assist early diagnosis. Clinical and EEG findings have been described in the past for classic types, but several variants have recently been reported. The authors reviewed the clinical and EEG findings of 18 childhood onset neuronal ceroid lipofuscinoses cases. In the late infantile neuronal ceroid lipofuscinoses type, both typical and variant cases have been observed. In this type, the presence of a particular pseudoperiodic EEG pattern that we found in 15/18 patients and observed in the first stages of the disease could be useful in early diagnosis, especially if associated with the absence of sleep spindles. A precise nosological classification, based both on clinical and instrumental findings is the prerequisite for a correct genotype-phenotype correlation that could greatly improve our knowledge of this disease, providing a better understanding of pathogenesis and increasing our ability to treat it.


Subject(s)
Brain/physiopathology , Electroencephalography , Neuronal Ceroid-Lipofuscinoses/physiopathology , Anticonvulsants/therapeutic use , Atrophy/etiology , Atrophy/pathology , Atrophy/physiopathology , Brain/diagnostic imaging , Brain/pathology , Child , Child, Preschool , Evoked Potentials/physiology , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Nerve Degeneration/etiology , Nerve Degeneration/pathology , Nerve Degeneration/physiopathology , Neuronal Ceroid-Lipofuscinoses/diagnostic imaging , Neuronal Ceroid-Lipofuscinoses/pathology , Photic Stimulation/adverse effects , Retrospective Studies , Tomography, X-Ray Computed
20.
Neurol Sci ; 21(3 Suppl): S75-81, 2000.
Article in English | MEDLINE | ID: mdl-11073232

ABSTRACT

We reviewed the clinical and EEG features of 30 Italian patients with childhood-onset neuronal ceroid lipofuscinosis (NCL). The outcome and the EEG pattern of the 4 infantile NCL cases were classic, although the age at onset of symptoms varied from 1.0 to 3.5 years. This latter finding is unusual and has not been reported for other Italian patients. Both typical and variant cases of late-infantile NCL (LINCL) were observed. This NCL type represents the most common form in our country, and was the largest group (18 cases) in our study. A particular pseudoperiodic EEG pattern was observed in 15 of the 18 patients with LINCL. This pattern may be useful in early diagnosis, especially if associated with the absence of sleep spindles. In the 8 cases with juvenile NCL, clinical and EEG findings were similar to those reported in the literature.


Subject(s)
Electroencephalography , Neuronal Ceroid-Lipofuscinoses/diagnosis , Child , Child, Preschool , Female , Humans , Infant , Italy , Male , Neuronal Ceroid-Lipofuscinoses/complications , Retrospective Studies , Seizures/diagnosis , Seizures/etiology
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