Ingreso de nitrógeno y fósforo al lago Atitlán (Guatemala) vía deposición atmosférica / Input of Nitrogen and Phosphorus to Lake Atitlán (Guatemala) via atmospheric deposition

La deposición de nutrientes por vía atmosférica tiene graves impactos sobre la ecología de bosques y cuerpos de agua templados. Sin embargo, su importancia en cuerpos de agua neotropicales casi no ha sido estudiada. En este artículo se cuantifica la contribución de nitrógeno inorgánico disuelto (NID, [NO3--N + NH4+-N]) y fósforo inorgánico soluble (FIS, [PO4-3-P]) depositados en bulto sobre superficies húmedas por vía atmosférica hacia el lago Atitlán (Guatemala). Las cargas estimadas de NID y FIS consecuencia de la deposición atmosférica directa (depositada sobre la superficie del lago) fueron de 151.2 ton/año y 5.6 ton/año, respectivamente. Con estos resulta-dos, se estima que el aporte de FIS por deposición atmosférica al lago Atitlán es comparable al de sus principales ríos tributarios, y de casi el doble para el ingreso de NID. Las estimaciones para el lago Atitlán son mayores que lo reportado para otros lagos. Nuestro estudio proporciona información básica para entender la eutrofización del lago Atitlán, enfatizado en la importancia de la deposición atmosférica como contribuyente al deterioro de este cuerpo de agua. Además, demuestra la necesidad de extender este tipo de estudio a otras cuencas neotropicales y la importancia de minimizar este impacto.

Atmospheric nutrient deposition has serious impacts on the ecology of forests and temperate water bodies nevertheless its importance in Neotropical water bodies has hardly been studied. Here we quantify the contribution of bulk atmospheric deposition on wet surfaces of dissolved inorganic nitrogen (DIN,[NO3--N + NH4+-N])and soluble inorganic phosphorus (SIP, [PO4-3-P])into Lake Atitlán (Guatemala). The estimated NID and SIP loads from this direct deposition on the lake surface were respectively, 151.2 tons/year and 5.6 tons/year. With these results, we estimated that the SIP input from atmospheric deposition to Lake Atitlán is comparable to that from the lake's main tributary rivers, whereas for DIN entry this is almost twice as much. Estimates for Lake Atitlán are higher than those reported for many lakes. Our study provides basic information towards understanding the eutrophication of Lake Atitlán, emphasizes the importance of atmospheric deposition in this process and the need for additional studies to document the process in neotropical watersheds.

Plateaus in amyotrophic lateral sclerosis progression: results from a population-based cohort.

BACKGROUND AND PURPOSE: The aim was to assess the frequency of plateaus in amyotrophic lateral sclerosis (ALS) progression using a large population-based cohort. METHODS: Data from the Piemonte and Valle d'Aosta ALS register were used. Patients who were diagnosed between 2007 and 2014 were considered. The follow-up period was extended until 31 December 2018. Visits after tracheostomy were excluded. A plateau was defined as a stable Amyotrophic Lateral Sclerosis Functional Rating Scale revised (ALSFRSr) score lasting at least 6, 12 or 18 months. RESULTS: Out of 1214 patients, 200 (16.5%), 93 (7.7%) and 52 (4.3%) showed at least one plateau lasting a minimum of 6, 12 and 18 months, respectively. Plateaus occurred mostly at high ALSFRSr scores and were more frequent during the initial phases of the disease course. Spinal onset [odds ratio (OR) 1.83, 95% confidence interval (CI) 1.16-2.95, P value 0.01) and predominant upper motor neuron phenotype (OR 2.18, 95% CI 1.36-3.48, P value 0.001) conferred a higher risk for the subsequent appearance of plateaus; conversely, older age at diagnosis (OR 0.25, 95% CI 0.11-0.54, P value 0.002 for >75 year age class) reduced this risk. CONCLUSIONS: Plateaus in ALS progression lasting at least 6 months appear in about one out of six patients and could last even 12, 18 months or more in a smaller subgroup of patients. Plateau occurrence should not lead the neurologist to automatically reconsider ALS diagnosis and should be considered for future clinical trial design.

Dinámica del consumo y aporte de nutrientes de fitoplancton, dominado por Microcystis sp. (Cyanophyceae) del lago de Amatitlán / Dynamics of the consumption and nutrient supply of phytoplankton, dominated by Microcystis sp. (Cyanophyceae) of Lake Amatitlán

El impacto antrópico cercano al lago de Amatitlán ha generado niveles altos de eutrofización que conllevan cambios en la dinámica del ecosistema. Uno de ellos es la proliferación de cianobacterias del género Microcystis que pueden llegar a ser perjudiciales para la fauna y flora de lugar e incluso para los seres humanos. Se presenta el caso de cultivo de un consorcio de fitoplancton, tomado directamente del lago y llevado al laboratorio en condiciones controladas, para medir su consumo y aporte de nitrógeno y fósforo, además de los cambios en los factores fisicoquímicos y la biomasa. Se observó la presencia de diatomeas del genero Nitszchia y cianobacterias como Dolichospermum, con una marcada dominancia de Microcystis sp. Se analizó el porcentaje de cambio en la concentración de nutrientes. Los resultados indican que hubo un aumento en las concentraciones de amonio, nitrato y nitrógeno inorgánico disuelto, mientras que disminuyó el nitrógeno total, el fósforo total y los ortofosfatos. Esto indica que hay aporte de nitrógeno inorgánico, consumo de fósforo y nitrógeno orgánico. El fósforo parece ser el nutriente limitante, ya que, al consumirse en un 90 % la biomasa empieza a decrecer.

The anthropic impact near lake Amatitlán has generated high levels of eutrophication that lead to changes in ecosystem dynamics. One of them is the proliferation of cyanobacteria of the genus Microcystis that can be harmful to the fauna and flora of the place and even to humans. The case of cultivation of a phytoplankton consortium, taken directly from the lake and taken to the laboratory under controlled conditions, to measure its consumption and contribution of nitrogen and phosphorus, in addition to changes in physicochemical factors and biomass is presented. The presence of diatoms of the genus Nitszchia and cyanobacteria such as Dolichospermum was detected, with a marked dominance of Microcystis sp. The percentage change in nutrient concentration was analyzed. The results indicated that there was an increase in the amounts of dissolved inorganic ammonium, nitrate and nitrogen, while total nitrogen, total phosphorus and orthophosphates decreased. This indicates that there is contribution of inorganic nitrogen, consumption of phosphorus and organic nitrogen. Phosphorus seems to be the limiting nutrient, since, when consumed by 90 %, biomass begins to decrease.

Spatial epidemiology of amyotrophic lateral sclerosis in Piedmont and Aosta Valley, Italy: a population-based cluster analysis.

BACKGROUND AND PURPOSE: The analysis of the spatial distribution of cases could give important cues on putative environmental causes of a disease. Our aim was to perform a spatial analysis of an amyotrophic lateral sclerosis (ALS) cohort from the Piedmont and Aosta Valley ALS register (PARALS) over a 20-year period. METHODS: The address at the moment of diagnosis was considered for each ALS case. Municipalities' and census divisions' resident populations during the 1995-2014 period were obtained. A cluster analysis was performed adopting both Moran's index and the Kulldorff spatial scan statistic. RESULTS: A total of 2702 ALS patients were identified. An address was retrieved for 2671 (99%) patients. Moran's index was -0.01 (P value 0.83), thus revealing no clusters. SaTScan identified no statistically significant clusters. When census divisions were considered, Moran's index was 0.13 (P value 0.45); SaTScan revealed one statistically significant small cluster in the province of Alessandria. Here, 0.0099 cases were expected and three cases were observed (relative risk 304.60; 95% confidence interval 109.83-845.88, P value 0.03). DISCUSSION: Our study showed a substantial homogeneous distribution of ALS cases in Piedmont and Aosta Valley. The population-based setting and the adoption of proper statistical analyses strengthen the validity of our results. Such a finding further suggests the involvement of multiple environmental and genetic factors in ALS pathogenesis.

The role of pre-morbid diabetes on developing amyotrophic lateral sclerosis.

BACKGROUND AND PURPOSE: The literature on the association between diabetes and amyotrophic lateral sclerosis (ALS) consists of a limited number of studies. This cohort study was developed in order to assess the role of diabetes on the risk of developing ALS. METHODS: The study population was represented by all residents in Turin (Italy) at the beginning of 1996 who participated in the 1991 census, over 14 years of age (n = 727 977) and followed up for ALS occurrence from 1998 to 2014. Presence of diabetes at baseline or during follow-up was ascertained through two Piedmont regional sources: the Diabetes Registry and the Anatomical Therapeutic Chemical Drug Prescription Archive. The risk of ALS was estimated using the Piedmont and Valle d'Aosta ALS Registry (PARALS). The association of diabetes, treated as a time-dependent variable, with ALS onset was estimated through Cox proportional hazard regression models adjusted for age, gender, education and marital status. RESULTS: During follow-up, 397 subjects developed ALS, 24 of whom were already diabetic before ALS onset. Diabetes was associated with a significantly decreased risk of ALS [hazard ratio, 0.30 (95% confidence interval, 0.19-0.45)] without differences in risk by gender, age class or ALS phenotype. CONCLUSION: The results support the protective role of diabetes toward ALS.

Cross-disciplinarity in the advance of Antarctic ecosystem research.

The biodiversity, ecosystem services and climate variability of the Antarctic continent and the Southern Ocean are major components of the whole Earth system. Antarctic ecosystems are driven more strongly by the physical environment than many other marine and terrestrial ecosystems. As a consequence, to understand ecological functioning, cross-disciplinary studies are especially important in Antarctic research. The conceptual study presented here is based on a workshop initiated by the Research Programme Antarctic Thresholds - Ecosystem Resilience and Adaptation of the Scientific Committee on Antarctic Research, which focussed on challenges in identifying and applying cross-disciplinary approaches in the Antarctic. Novel ideas and first steps in their implementation were clustered into eight themes. These ranged from scale problems, through risk maps, and organism/ecosystem responses to multiple environmental changes and evolutionary processes. Scaling models and data across different spatial and temporal scales were identified as an overarching challenge. Approaches to bridge gaps in Antarctic research programmes included multi-disciplinary monitoring, linking biomolecular findings and simulated physical environments, as well as integrative ecological modelling. The results of advanced cross-disciplinary approaches can contribute significantly to our knowledge of Antarctic and global ecosystem functioning, the consequences of climate change, and to global assessments that ultimately benefit humankind.

Occupations and amyotrophic lateral sclerosis: are jobs exposed to the general public at higher risk?

Background: Aim of this study was to assess whether previous employment in certain occupations could be a risk factor for Amyotrophic Lateral Sclerosis (ALS) incidence. This topic has been explored by several studies, but no risk factor has been firmly identified. Methods: The study population consisted of all subjects over 30 years old resident in Turin in 1996 who worked or were unemployed at 1991 Italian census (n = 284 406), followed up for ALS occurrence from 1996 to 2014. The risk of ALS was estimated in relation to the occupation held in 1991, using the Italian classification of occupations at the greatest detail. The association between occupations and ALS risk was estimated through Huber-White sandwich multivariate Poisson regression models adjusted for age, gender, education and marital status. Results: During the follow-up, 208 subjects developed ALS. ALS risk was significantly associated with previous employment as bank teller (IRR = 7.33), general practitioner (IRR = 4.61) and sales representative (IRR = 3.06). Categorizing all occupations as exposed or unexposed to direct contact with general public, it was found that previous employment in this group of occupations increased significantly ALS risk (IRR = 1.51), mainly driven by occupations in direct contact with customers (IRR = 1.79). Conclusions: The study results indicate that ALS risk may be increased by previous employment in occupations implying direct contact with the general public, in particular customers. A possible explanation of this finding, partly supported by the literature, is that workers in contact with the public could be more exposed to certain infections, which would increase their ALS risk.

Peripheral Blood Gene Expression Changes Associated With Primary Graft Dysfunction After Lung Transplantation.

Recipient responses to primary graft dysfunction (PGD) after lung transplantation may have important implications to the fate of the allograft. We therefore evaluated longitudinal differences in peripheral blood gene expression in subjects with PGD. RNA expression was measured throughout the first transplant year in 106 subjects enrolled in the Clinical Trials in Organ Transplantation-03 study using a panel of 100 hypothesis-driven genes. PGD was defined as grade 3 in the first 72 posttransplant hours. Eighteen genes were differentially expressed over the first year based on PGD development, with significant representation from innate and adaptive immunity genes, with most differences identified very early after transplant. Sixteen genes were overexpressed in the blood of patients with PGD compared to those without PGD within 7 days of allograft reperfusion, with most transcripts encoding innate immune/inflammasome-related proteins, including genes previously associated with PGD. Thirteen genes were underexpressed in patients with PGD compared to those without PGD within 7 days of transplant, highlighted by T cell and adaptive immune regulation genes. Differences in gene expression present within 2 h of reperfusion and persist for days after transplant. Future investigation will focus on the long-term implications of these gene expression differences on the outcome of the allograft.

Lung niches for the generation and maintenance of tissue-resident memory T cells.

The extent to which tissue-specific viral infections generate memory T cells specifically adapted to and maintained within the target infection site is unknown. Here, we show that respiratory virus-specific memory T cells in mice and humans are generated and maintained in compartmentalized niches in lungs, distinct from populations in lymphoid tissue or circulation. Using a polyclonal mouse model of influenza infection combined with an in vivo antibody labeling approach and confocal imaging, we identify a spatially distinct niche in the lung where influenza-specific T-cell responses are expanded and maintained long term as tissue-resident memory (T(RM)) CD4 and CD8 T cells. Lung T(RM) are further distinguished from circulating memory subsets in lung and spleen based on CD69 expression and persistence independent of lymphoid stores. In humans, influenza-specific T cells are enriched within the lung T(RM) subset, whereas memory CD8 T cells specific for the systemic virus cytomegalovirus are distributed in both lung and spleen, suggesting that the site of infection affects T(RM) generation. Our findings reveal a precise spatial organization to virus-specific T-cell memory, determined by the site of the initial infection, with important implications for the development of targeted strategies to boost immunity at appropriate tissue sites.

Donor age and early graft failure after lung transplantation: a cohort study.

Lungs from older adult organ donors are often unused because of concerns for increased mortality. We examined associations between donor age and transplant outcomes among 8860 adult lung transplant recipients using Organ Procurement and Transplantation Network and Lung Transplant Outcomes Group data. We used stratified Cox proportional hazard models and generalized linear mixed models to examine associations between donor age and both 1-year graft failure and primary graft dysfunction (PGD). The rate of 1-year graft failure was similar among recipients of lungs from donors age 18-64 years, but severely ill recipients (Lung Allocation Score [LAS] >47.7 or use of mechanical ventilation) of lungs from donors age 56-64 years had increased rates of 1-year graft failure (p-values for interaction = 0.04 and 0.02, respectively). Recipients of lungs from donors <18 and ≥65 years had increased rates of 1-year graft failure (adjusted hazard ratio [HR] 1.23, 95% CI 1.01-1.50 and adjusted HR 2.15, 95% CI 1.47-3.15, respectively). Donor age was not associated with the risk of PGD. In summary, the use of lungs from donors age 56 to 64 years may be safe for adult candidates without a high LAS and the use of lungs from pediatric donors is associated with a small increase in early graft failure.

Pilot study exploring lung allograft surfactant protein A (SP-A) expression in association with lung transplant outcome.

Primary graft failure and chronic lung allograft dysfunction (CLAD) limit lung transplant long-term outcomes. Various lung diseases have been correlated with surfactant protein (SP) expression and polymorphisms. We sought to investigate the role of SP expression in lung allografts prior to implantation, in relation to posttransplant outcomes. The expression of SP-(A, B, C, D) mRNA was assayed in 42 allografts. Posttransplant assessments include pulmonary function tests, bronchoscopy, broncho-alveolar lavage fluid (BALF) and biopsies to determine allograft rejection. BALF was assayed for SP-A, SP-D in addition to cytokines IL-8, IL-12 and IL-2. The diagnosis of CLAD was evaluated 6 months after transplantation. Lung allografts with low SP-A mRNA expression prior to implantation reduced survival (Log-rank p < 0.0001). No association was noted for the other SPs. Allografts with low SP-A mRNA had greater IL-2 (p = 0.03) and IL-12 (p < 0.0001) in the BALF and a greater incidence of rejection episodes (p = 0.003). Levels of SP-A mRNA expression were associated with the SP-A2 polymorphisms (p = 0.015). Specifically, genotype 1A1A(0) was associated with lower SP-A mRNA expression (p < 0.05). Lung allografts with low levels of SP-A mRNA expression are associated with reduced survival. Lung allograft SP-A mRNA expression appears to be associated with SP-A gene polymorphisms.

Donor surfactant protein D (SP-D) polymorphisms are associated with lung transplant outcome.

Chronic lung allograft dysfunction (CLAD) is the major factor limiting long-term success of lung transplantation. Polymorphisms of surfactant protein D (SP-D), an important molecule within lung innate immunity, have been associated with various lung diseases. We investigated the association between donor lung SP-D polymorphisms and posttransplant CLAD and survival in 191 lung transplant recipients consecutively transplanted. Recipients were prospectively followed with routine pulmonary function tests. Donor DNA was assayed by pyrosequencing for SP-D polymorphisms of two single-nucleotide variations altering amino acids in the mature protein N-terminal domain codon 11 (Met(11) Thr), and in codon 160 (Ala(160) Thr) of the C-terminal domain. CLAD was diagnosed in 88/191 patients, and 60/191 patients have died. Recipients of allografts that expressed the homozygous Met(11) Met variant of aa11 had significantly greater freedom from CLAD development and better survival compared to those with the homozygous Thr(11) Th variant of aa11. No significant association was noted for SP-D variants of aa160. Lung allografts with the SP-D polymorphic variant Thr(11) Th of aa11 are associated with development of CLAD and reduced survival. The observed genetic differences of the donor lung, potentially with their effects on innate immunity, may influence the clinical outcomes after lung transplantation.

Population data for 17 Y-chromosome STRs in a sample from Apulia (Southern Italy).

The 17 Y-STR loci included in the AmpFLSTR Yfiler PCR Amplification Kit were analyzed in 98 unrelated healthy males from Apulia (Southern Italy). A total of 97 different haplotypes were identified, of which 96 haplotypes were unique and 1 occurred twice. Allele frequencies for each Y-STR locus in pooled sample and estimated value of gene diversity (GD) were evaluated. The lowest value of GD was observed for DYS392 (0.126) and the highest one (0.936) for DYS385. The HD (haplotype diversity) for the studied Y-STR set showed a value of 0.9994, with an HMP (haplotype match probability) value of 0.0006, while the overall DC was 98.98%. Microvariant alleles were found for the DYS458 and DYS385 markers and sequenced. Furthermore, Φ(st)-based genetic distance computation and pair-wise analysis of molecular variance (AMOVA) test were carried out. When comparing our population with the Apulia sample previously investigated, the AMOVA analysis detected no evidence for significant differentiation. The comparison with all Italian populations submitted to the YHRD website showed no relevant differences with all Southern Italian populations (San Giorgio La Molara, Belvedere, Trapani and Catania) and significant genetic deviation with all Northern Italian populations (Udine, Biella, La Spezia, Modena, Ravenna, Marche and North Sardinia). Moreover, the other populations and meta-populations belonging to the whole Mediterranean area (Croatia, Macedonia, Albania, Greece, Turkey, Israel, Libya, Tunisia, Algeria, Morocco and Spain) were different from our Apulia sample. The data were submitted to YHRD.

Prevalence and clinical picture of gastroesophageal prolapse in gastroesophageal reflux disease.

The prevalence of gastroesophageal (GE) mucosal prolapse in patients with gastroesophageal reflux disease (GERD) was investigated as well as the clinical profile and treatment outcome of these patients. Of the patients who were referred to our service between 1980 and 2008, those patients who received a complete diagnostic work-up, and were successively treated and followed up at our center with interviews, radiology studies, endoscopy, and, when indicated, esophageal manometry and pH recording were selected. The prevalence of GE prolapse in GERD patients was 13.5% (70/516) (40 males and 30 females with a median age of 48, interquartile range 38-57). All patients had dysphagia and reflux symptoms, and 98% (69/70) had epigastric or retrosternal pain. Belching decreased the intensity or resolved the pain in 70% (49/70) of the cases, gross esophagitis was documented in 90% (63/70) of the cases, and hiatus hernias were observed in 62% (43/70) of the cases. GE prolapse in GERD patients was accompanied by more severe pain (P < 0.05) usually associated with belching, more severe esophagitis, and dysphagia (P < 0.05). A fundoplication was offered to 100% of the patients and was accepted by 56% (39/70) (median follow up 60 months, interquartile range 54-72), which included two Collis-Nissen techniques for true short esophagus. Patients who did not accept surgery were medically treated (median follow up 60 months, interquartile range 21-72). Persistent pain was reported in 98% (30/31) of medical cases, belching was reported in 45% (14/31), and GERD symptoms and esophagitis were reported in 81% (25/31). After surgery, pain was resolved in 98% (38/39) of the operative cases, and 79% (31/39) of them were free of GERD symptoms and esophagitis. GE prolapse has a relatively low prevalence in GERD patients. It is characterized by epigastric or retrosternal pain, and the need to belch to attenuate or resolve the pain. The pain is allegedly a result of the mechanical consequences of prolapse of the gastric mucosa into the esophagus.

The effect of reflux and bile acid aspiration on the lung allograft and its surfactant and innate immunity molecules SP-A and SP-D.

Gastro-esophageal reflux and related pulmonary bile acid aspiration were prospectively investigated as possible contributors to postlung transplant bronchiolitis obliterans syndrome (BOS). We also studied the impact of aspiration on pulmonary surfactant collectin proteins SP-A and SP-D and on surfactant phospholipids--all important components of innate immunity in the lung. Proximal and distal esophageal 24-h pH testing and broncho-alveolar lavage fluid (BALF) bile acid assays were performed prospectively at 3-month posttransplant in 50 patients. BALF was also assayed for SP-A, SP-D and phospholipids expressed as ratio to total lipids: phosphatidylcholine; dipalmitoylphosphatidylcholine; phosphatidylglycerol (PG); phosphatidylinositol; sphingomyelin (SM) and lysophosphatidylcholine. Actuarial freedom from BOS was assessed. Freedom from BOS was reduced in patients with abnormal (proximal and/or distal) esophageal pH findings or BALF bile acids (Log-rank Mantel-Cox p < 0.05). Abnormal pH findings were observed in 72% (8 of 11) of patients with bile acids detected within the BALF. BALF with high levels of bile acids also had significantly lower SP-A, SP-D, dipalmitoylphosphatidylcholine; PG and higher SM levels (Mann-Whitney, p < 0.05). Duodeno-gastro-esophageal reflux and consequent aspiration is a risk factor for the development of BOS postlung transplant. Bile acid aspiration is associated with impaired lung allograft innate immunity manifest by reduced surfactant collectins and altered phospholipids.

Racial and ethnic disparities in idiopathic pulmonary fibrosis: A UNOS/OPTN database analysis.

We previously reported poorer survival among non-Hispanic blacks and Hispanics with idiopathic pulmonary fibrosis (IPF) compared to non-Hispanic whites at our center. In the current study, we hypothesized that these disparities would exist in a nationwide cohort of wait-listed patients with IPF. We performed a retrospective cohort study of 2635 patients with IPF listed for lung transplantation between 1995 and 2003 at 94 transplant centers in the United States. The age-adjusted mortality rate was higher among non-Hispanic blacks [hazard ratio (HR) = 1.24, 95% confidence interval (CI) 1.06-1.45, p = 0.009] and Hispanics (HR = 1.29, 95% CI 1.06-1.56, p = 0.01) compared to non-Hispanic whites. These findings persisted after adjustment for transplantation, medical comorbidities and socioeconomic status. Worse lung function at the time of listing appeared to explain some of these differences (HR for non-Hispanic blacks after adjustment for forced vital capacity percent predicted = 1.16, 95% CI 0.98-1.36, p = 0.09; HR for Hispanics = 1.21, 95% CI 0.99-1.48, p = 0.056). In summary, black and Hispanic patients with IPF have worse survival than whites after listing for lung transplant.

Coherent regimes of mutually coupled Chua's circuits.

We study the dynamical regimes that emerge from the strong coupling between two Chua's circuits with parameters mismatch. For the region around the perfect synchronous state we show how to combine parameter diversity and coupling in order to robustly and precisely target a desired regime. This target process allows us to obtain regimes that may lie outside parameter ranges accessible for any isolated circuit. The results are obtained by following a recently developed theoretical technique, the order parameter expansion, and are verified both by numerical simulations and on electronic circuits. The theoretical results indicate that the same predictable change in the collective dynamics can be obtained for large populations of strongly coupled circuits with parameter mismatches.

Life expectancy in patients with hereditary haemorrhagic telangiectasia.

BACKGROUND: There are few data on life expectancy in patients with hereditary haemorrhagic telangiectasia (HHT), a disorder with life-threatening complications. METHODS: Seventy HHT patients provided data on age and age at death of their HHT-affected parent, which was compared with that of the parent's non-affected partner. RESULTS: At the time of the study, 40 HHT parents (57.1%) vs. 36 (51.4%) non-HHT parents had died (p = 0.404). Median age at death was lower in HHT vs. non-HHT parents (63.2 vs. 70.0 years, respectively). The mortality of HHT parents showed an early peak in the under 50s and a late peak at 60-79 years. HHT was the main risk factor influencing life expectancy after 30 years (p < 0.05). No differences in survival probability were found in HHT patients with respect to sex (p = 0.37), or ENG vs. ALK-1 genotype (p < 0.9). DISCUSSION: Life expectancy appears to be significantly lower in HHT patients than in their partners. Prevention of HHT complications with screening programs could increase life expectancy.

Comparison between subjective and objective assessment of the long-term results after the Heller-Dor operation in patients affected by oesophageal achalasia.

INTRODUCTION: Nowadays the subjective assessment of Health-Related Quality of Life after surgery for achalasia is often associated with the instrumental methods in order to evaluate long-term results of therapy. AIMS: To assess the long-term objective and subjective results of the surgical treatment of achalasia and to study the correlation between clinical-instrumental methods and those based on the patient's self-assessment and on Health-Related Quality of Life questionnaires. METHODS: One hundred and twenty-four patients consecutively submitted to trans-abdominal Heller-Dor operation were periodically followed up with clinical examination, endoscopy, barium swallow and manometry. The Health-Related Quality of Life was assessed using the 36 item short form (SF-36) and the Psychological General Well-Being Index questionnaire. The statistical comparison between the results of the self-assessment questionnaires and the long-term clinical-instrumental result was calculated by means of linear regression analysis. RESULTS: Over the years, 123 patients underwent at least one complete clinical-instrumental check-up and filled the self-assessment questionnaires. Mean follow-up was 105 months (range 12-288) with a median of 82.5 months. The result of the surgery was considered satisfactory in 93.5% of the patients, while the reflux oesophagitis observed in 6.5% of the cases was the main cause of failure. Clinical scores for dysphagia and for gastro-oesophageal reflux symptoms were significantly reduced after surgery. The results of the SF-36 and Psychological General Well-Being Index questionnaires were in our population very high and clinical correlation (p<0.05) emerged in physical function, in role physical, in mental health and in vitality domains of SF-36 questionnaire, and in self-control and general health scales of Psychological General Well-Being Index questionnaire. CONCLUSIONS: Health-Related Quality of Life questionnaires can be considered valid aids in evaluating surgical results, but the clinical-instrumental evaluation remains the cardinal point of every long-term assessment in order to diagnose complications, the disease-related conditions of the patient and to acquire reliable data on which scientific discussion can be based.