Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.

Surfactant protein B encoding gene mutations have been related to early onset fatal respiratory distress in full-term neonates. We report a school-aged male child homozygous for a surfactant protein B encoding gene missense mutation who presented after the neonatal period. His respiratory insufficiency responded to high dose intravenous methylprednisolone and hydroxychloroquine.

[Perioperative mortality of lung transplantation in chronic obstructive pulmonary disease]. / Mortalidad perioperatoria del trasplante pulmonar en la enfermedad pulmonar obstructiva crónica.

INTRODUCTION: Lung transplantation (LT) has been considered an alternative therapeutic approach in terminal patients. However, this process in COPD is not controversy-free. This paper aimed to analyze 30-day mortality (PM) patterns and their risk factors in COPD patients undergoing LT. PATIENTS AND METHOD: A retrospective cohort with 107 COPD patients, transplanted at the University La Fe Valencia, Spain, treated from January 1991 to December 2008. Demographics values, degree of dyspnoea, diagnosis, BODE index, single versus bilateral LT, cardio-pulmonary bypass, donor age, steroid dependence, presence of bronchiectasis, retrograde perfusion, transfusion of blood products, and PaO2/FiO2 were analyzed. Continuous variables were expressed as mean±SD and categorical variables as absolute frequency and percentage. A Cox regression model was used for multivariate analysis. RESULTS: Ninety-four men and 13 women of a mean age of 52.58±8.05 years were transplanted. Of all patients, 75% obtained a BODE score above 7. There were 76 bilateral LT. PM was established at 14%. Main causes of death were infection (53.3%) and surgical complications (33.3%). Presence of bronchiectasis and chronic use of corticosteroids, donor/recipient difference in size and presence of fat in retrograde perfusion fluid were important risk factors for PM. Moreover, PaO2/FiO2 ratio at 6h was a protective factor for the event, thus a higher ratio value, lowered the risk of PM. CONCLUSIONS: LT is a procedure with a high PM rate. Use of corticosteroids, the presence of bronchiectasis and fat emboli in the retrograde reperfusion, and PaO2/FiO2 significantly determine PM.

Prognostic Factors in Non-Small Cell Lung Cancer Less Than 3 Centimeters: Actuarial Analysis, Accumulative Incidence and Risk Groups.

INTRODUCTION: In TNM classification, factors determining the tumor (T) component in non-small cell lung cancer have scarcely changed over time and are still based solely on anatomical features. Our objective was to study the influence of these and other morphopathological factors on survival. METHODS: A total of 263 patients undergoing lung resection due to stage I non-small cell lung cancer ≤3cm in diameter were studied. A survival analysis and competing-risk estimate study was made on the basis of clinical, surgical and pathological variables using actuarial analysis and accumulative incidence methods, respectively. A risk model was then generated from the results. RESULTS: Survival at 5 and 10 years was 79.8 and 74.3%, respectively. The best prognostic factors were presence of symptoms, smoking habit and FEV1>60%, number of resected nodes>7, squamous histology, absence of vascular invasion, absence of visceral pleural invasion and presence of invasion more proximal than the lobar bronchus. All these were statistically significant according to the actuarial method. The factor "age<50 years" was close to the margin of statistical significance. Pleural invasion and vascular invasion were entered in the multivariate analysis. The competing-risk analysis showed a probability of death due to cancer of 14.3 and 35.1% at 5 and 10 years, respectively. Significant variables in the univariate and multivariate analyses were similar, with the exception of FEV1>60%. CONCLUSIONS: Pleural invasion and vascular invasion determine survival or risk of death due to non-small cell lung cancer ≤3cm and can be used for generating a predictive risk model.

[Mortality in early-stage, surgically resected non-small cell lung cancer less than 3 cm of size: Competing risk analysis]. / Mortalidad en carcinoma pulmonar no microcítico resecado, con tamaño máximo de 3 cm y sin afectación ganglionar: análisis de riesgos competitivos.

BACKGROUND AND OBJECTIVE: Survival studies of non-small cell lung cancer (NSCLC) are usually based on the Kaplan-Meier method. However, other factors not covered by this method may modify the observation of the event of interest. There are models of cumulative incidence (CI), that take into account these competing risks, enabling more accurate survival estimates and evaluation of the risk of death from other causes. We aimed to evaluate these models in resected early-stage NSCLC patients. PATIENTS AND METHOD: This study included 263 patients with resected NSCLC whose diameter was ≤ 3 cm without node involvement (N0). Demographic, clinical, morphopathological and surgical variables, TNM classification and long-term evolution were analysed. To analyse CI, death by another cause was considered to be competitive event. For the univariate analysis, Gray's method was used, while Fine and Gray's method was employed for the multivariate analysis. RESULTS: Mortality by NSCLC was 19.4% at 5 years and 14.3% by another cause. Both curves crossed at 6.3 years, and probability of death by another cause became greater from this point. In multivariate analysis, cancer mortality was conditioned by visceral pleural invasion (VPI) (P=.001) and vascular invasion (P=.020), with age>50 years (P=.034), smoking (P=.009) and the Charlson index ≥ 2 (P=.000) being by no cancer. CONCLUSIONS: By the method of CI, VPI and vascular invasion conditioned cancer death in NSCLC >3 cm, while non-tumor causes of long-term death were determined.

Functional outcomes after lung transplant in chronic obstructive pulmonary disease.

INTRODUCTION: Lung transplantation (LT) is a therapeutic option with controversial results in chronic obstructive pulmonary disease (COPD). We aimed to analyze the outcomes of transplantation in terms of lung function and to identify prognostic factors. METHOD: A retrospective analysis of 107 patients with COPD receiving lung transplants in the La Fe Hospital between 1991 and 2008 was performed. Preoperative variables, pulmonary function tests before and after LT, surgical procedure variables and long-term monitoring, expressed as mean or percentage, as applicable, were analyzed. Spirometric results before and after LT were analyzed. Linear or logistic regression were used for multivariate analysis depending on the variable. RESULTS: Ninety-four men (87.9%) and 13 women (12.1%) were transplanted, with a mean age±standard deviation of 52.58±8.05 years; 71% of LTs were double-lung transplantations. Spirometric values improved after LT: FVC: +1.22L (+34.9%), FEV1: +1.66L (+56.7%) and FEF25-75: +1.85L (+50.8%); P=.001. This functional improvement was maintained after 5 years only in the group with BODE score >7 (P=.001). Recipient height, type of LT, use of extracorporeal circulation during the surgical procedure, presence of bronchiolitis obliterans syndrome and the age and cause of death of the donor significantly influenced lung function over time. CONCLUSIONS: LT improves lung function in COPD patients. This improvement was maintained at 5years only in patients with BODE>7. Double lung transplantation provides better functional results than single-lung transplantation.

[Lung transplantation in sporadic lymphangioleiomyomatosis: study of 7 cases]. / Trasplante pulmonar en la linfangioleiomiomatosis esporádica. Estudio de 7 casos.

BACKGROUND AND OBJECTIVE: Sporadic lymphangioleiomyomatosis (S-LAM) is a rare disease that affects only women. It is characterized by an abnormal proliferation of immature smooth muscle cells (LAM cells) that grow in an aberrant manner in the airway, parenchymal lung lymph and blood vessels, determining the onset of pulmonary cystic lesions. The disease has no treatment, progressing to respiratory failure, and lung transplantation (LT) may be a treatment option at this stage. Our goal was to study 7 patients undergoing LT for S-LAM. MATERIAL AND METHOD: We studied a series of clinical and demographic characteristics, diagnostic modality and post-transplant outcomes. We performed a descriptive analysis of the series. The Kaplan-Meier method was used to estimate survival. RESULTS: The mean age of onset of symptoms was 35 years, the diagnosis of 37 years and that of LT 38 years. The most common symptom was dyspnea. Four patients had a history of pneumothorax and pleural effusion. The mean forced expiratory volume in one second was 32.7% and the diffusing capacity for carbon monoxide was 29%. All patients were subjected to LT and survival was 100, 85.7 and 57.1% at one, 3 and 5 years, respectively. Three died of bronchiolitis obliterans and 2 necropsies did not show evidence of disease recurrence. CONCLUSIONS: LT is a therapeutic option in patients with S-LAM with an advanced respiratory functional impairment.

[Complications after lung transplantation in chronic obstructive pulmonary disease]. / Complicaciones del trasplante de pulmón en la enfermedad pulmonar obstructiva crónica.

BACKGROUND AND OBJECTIVE: Lung transplantation (LT) in chronic obstructive pulmonary disease (COPD) is a procedure with a high rate of morbimortality. The aim of this paper is to analyze the early and late rates of complications and mortality in COPD patients undergoing LT. PATIENTS AND METHOD: Retrospective study of 107 COPD patients transplanted in the Hospital Universitario La Fe, between 1991 and 2008. Preoperative variables were collected as well as all the complications, medical and surgical, occurred in the follow-up, which are expressed as mean or percentage as appropriate. The 30-day mortality and long term survival were established. RESULTS: A total of 94 men (87.9%) and 13 women (12.1%) were transplanted with a mean age (SD) of 52.58 (8.05) years with 71% of double-lung LT. BODE score was 7.24 (1.28). The rate of primary graft dysfunction was 39.3%. The most common surgical complications were phrenic paralysis (16.8%), hemothorax (17.8%) and pleural effusion (30.8%). There was a high number of postoperative hospitalization (30%) and medical complications such as hypertension (36%), diabetes mellitus (16.7%) and renal failure (40%), secondary to treatment. Perioperative mortality was 14% and 34.5% after a year, being the most frequent causes infections (34.6%) and chronic rejection (BOS) (17.8%). Five-year survival was 40.9% with bronchiectasis and smoking history being the risk factors. CONCLUSIONS: LT is a procedure with a high early mortality rate associated with high medical and surgical complications that affect the outcome.

[Sporadic lymphangioleiomyomatosis and pulmonary hypertension. Clinical and pathologic study in patients undergoing lung transplantation]. / Linfangioleiomiomatosis esporádica e hipertensión pulmonar. Estudio clínico-patológico en pacientes receptoras de un trasplante pulmonar.

BACKGROUND AND OBJECTIVE: Lymphangioleiomyomatosis (LAM) is a rare disease characterized by an aberrant immature smooth muscle cells proliferation. This excessive growth of LAM cells around airways, parenchyma, lymphatic ganglia and lung vessels, produces cystic damages. LAM affects mainly women and can lead to pulmonary hypertension (PH). The aim of this research is the clinical study, as well as the analysis of the morphological features, expressing PH, of the native lungs from lung transplant (LT) patients. PATIENTS AND METHODS: Several clinical variables were studied in 7 patients who had a LAM and who were subjected to LT. The variables analyzed using morphologic and immunohistochemistry techniques were: histological alterations in native lungs, their severity rate, the presence of haemosiderosis in the air spaces and correlation index between thickness of the middle layer and the pulmonary arterial vascular diameter, morphological expression of HP. RESULTS: The average age was 34 years old and the predominant symptom was dyspnea. The respiratory functional pattern was mixt, with decrease of DLCO% and KCO%, serious hypoxemia and normocapnia. In the cardiological study, subclinical signs of HP were found. The immunohistochemistry was positive for smooth muscle and melanic expression markers, estrogen receptor in 6 cases and progesterone receptor in 4. Vascular correlation index showed HP criteria at all. CONCLUSIONS: This research shows the presence of clinical and morphological HP criteria in advanced LAM patients. Therefore, cardiological assessment before LT with right catheterization will be justified. Future research should be addressed to clarify whether the HP should be criteria for LT in LAM patients.

Lymphangioleiomyomatosis.

Lymphangioleiomyomatosis (LAM) is a rare disease that mainly affects women, particularly at fertile age. It is sporadic or associated with tuberous sclerosis complex. It is characterised by an abnormal proliferation of immature smooth muscle cells (SMC), which grow aberrantly in the airway, parenchyma, lymphatics and pulmonary blood vessels and which can gradually lead to respiratory failure. It affects several systems, affecting the lymphatic ganglia and causing abdominal tumours. Given its very low prevalence, a difficult to establish early diagnosis, absence of curative treatment and the difficulty in obtaining information, places LAM under the heading of the so-called Rare Diseases. There is a growing interest in the study of this disease which has led to the setting up of patient registers and an exponential growth in LAM research, both at a clinical level and cellular level.