Clinical assessment and management of massive hemoptysis

OBJECTIVE: Massive hemoptysis is a potentially lethal condition that deserves to be investigated thoroughly and brought under control promptly. The mortality rate depends mainly on the underlying etiology and the magnitude of bleeding. Although the diagnosis of hemoptysis may be established by chest radiograph, many pathologies may be missed. Because bronchoscopy and computed tomography are complementary, they may indicate pathologies not detectable by chest radiograph. Finding the etiology and site of the hemoptysis is imperative. INVESTIGATIONS: Urgent bronchoscopy should be performed in unstable patients because it exacts a paramount role in the diagnostic search and therapy. It can be used to facilitate the introduction of balloon-tip catheters into the bleeding bronchus for tamponade of the hemorrhagic artery, protecting de facto the contralateral lung or nonbleeding bronchi from blood aspiration. Endobronchial tamponade should only be used as a temporary measure until a more specific treatment is instituted. In stable patients, computed tomography should be ordered before any bronchoscopic exploration. INTERVENTIONS: Surgery was once regarded as the treatment of choice in operable patients with massive hemoptysis. Bronchial artery embolization (BAE) is an excellent nonsurgical alternative; it is proven to be very effective and lacks the mortality and morbidity encountered in surgical interventions. Nevertheless, surgery is recommended in patients with massive hemoptysis caused by thoracic vascular injury, arteriovenous malformation, leaking thoracic aneurysm with bronchial communication, hydatid cyst, and other conditions in which BAE would be inadequate. MEDICAL MANAGEMENT: Conservative medical therapy may suffice in certain conditions, like bronchiectasis, coagulopathies, Goodpasture's syndrome, and acute bronchopulmonary infections. Preparation for other interventions (endobronchial tamponade, BAE, or surgery in eligible candidates) should be undertaken if the bleeding fails to respond to conservative measures. Supportive therapy should be applied vigorously to all patients with massive hemoptysis.     

Genetic and environmental influences on total plasma homocysteine and its role in coronary artery disease risk

BackgroundElevated levels of total plasma homocysteine are a risk factor for atherosclerotic disease.AimsThe rationale behind this study is to explore the correlation between degree and site of coronary lesion and hyperhomocysteinemia in Lebanese CAD patients and assess environmental and genetic factors for elevated levels of total plasma homocysteine.MethodsA total of 2644 patients were analyzed for traditional CAD risk factors. Logistic regression was performed to determine the association of hyperhomocysteinemia with degree and site of coronary lesions controlling for risk factors. Environmental and genetic factors for hyperhomocysteinemia were analyzed by logistic regression using a candidate gene approach.ResultsTraditional risk factors were correlated with stenosis. Hyperhomocysteinemia associated with increased risk of overall stenosis, and risk of mild and severe occlusion in major arteries. Hyperhomocysteinemia and hypertension were highly correlated suggesting that hyperhomocysteinemia acts as a hypertensive agent leading to CAD. Diuretics and genetic polymorphisms in MTHFR and SLCO1B1 were associated with hyperhomocysteinemia.ConclusionsHyperhomocysteinemia is a medical indicator of specific vessel stenosis in the Lebanese population. Hypertension is a major link between hyperhomocysteinemia and CAD occurrence. Genetic polymorphisms and diuretics’ intake explain partly elevated homocysteine levels. This study has important implications in CAD risk prediction.     

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters

Alazami syndrome (AS) (MIM# 615071) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full lips and abnormally set teeth. We also report significant new findings enabling further delineation of this syndrome: disproportionately mild microcephaly, stereotypic hand wringing and severe anxiety, thickened skin over the hands and feet, and skeletal, eye and heart malformations. From previous reviews, we summarize the main etiologies of PD according to the involved mechanisms and cellular pathways, highlighting their clinical core features.     

HBs Ag and antibodies to hepatitis C virus in complicated chronic liver disease in Gabon. A case control study

BACKGROUND AND OBJECTIVE: The prevalence of HBs Ag and anti-HCV antibodies are high in the general population in Gabon. The aim of this study was to perform a case control study to determine the role of hepatitis B and C viruses in decompensated cirrhosis and hepatocellular carcinoma. METHODS: Between October 1990 and June 1998, HBs Ag and anti-HCV antibodies were investigated in 1 204 newly hospitalized patients. Sixty-seven had decompensated cirrhosis, 38 had hepatocellular carcinoma and six an association of both diseases. Prevalences were compared with those in a group of 527 sex and age matched controls from the same cohort. RESULTS: HBs Ag prevalence among cases was 35.1% (decompensated cirrhosis: 34.2%; hepatocellular carcinoma: 40.5%) and 12.5% among controls. Anti-HCV were detected in 32.4% of cases (decompensated cirrhosis: 34.2%; hepatocellular carcinoma: 28.6%) and in 20.1% of controls. Complicated chronic liver disease was linked to HBs Ag (OR=11.3; IC: 4.8-26.7; cirrhosis: OR=18; IC: 5.3-61.5; hepatocellular carcinoma: OR=8.3; IC: 2.5-27.8) in patients from 15 to 34 years old. Above 45 years, complicated chronic liver disease was linked to anti-HCV antibodies (OR=2.9; IC: 1.6-5.3; cirrhosis: OR=2.8; IC: 1.4-5.8; hepatocellular carcinoma: OR=3.2; IC: 1.1-9.5). CONCLUSION: Both Hepatitis B and C viruses are linked to complicated chronic liver disease in Gabon in an age-dependent manner.     

Osteoarticular disorders of haematological origin.

Clinical abnormalities of the musculoskeletal system may be the first manifestation of sickle haemoglobinopathies, leukaemias, lymphomas and haemophilia. In addition to this, known patients with these diseases exhibit a variety of osteoarticular features. The painful crisis is the most common manifestation of sickle cell disorders, but avascular necrosis, osteomyelitis and various forms of arthritides are also common. In haematological malignancies, bone pain and arthritis may occur at any stage of the disease. The diagnosis must be confirmed by the presence of malignant cells on histological examination of various samples. Haemarthrosis is the main symptom of haemophilia. It needs early treatment to avoid damage to the joints. The availability of new safe coagulation factors has improved the prognosis of haemophilia.     

Percutaneous closure devices for endovascular repair of infrarenal abdominal aortic aneurysms: a prospective, non-randomized comparative study.

PURPOSE: This study was designed to describe and evaluate our preliminary results with a percutaneous arterial closure device as compared to those obtained with conventional femoral surgical cut down during endovascular repair of abdominal aortic aneurysms (AAA). MATERIAL AND METHODS: Between January 2004 and December 2006, 40 of 86 AAA patients selected for endovascular repair met the criteria for inclusion in this study. Nineteen of these patients (Group A) received a bifurcated endograft placed by direct puncture of the femoral arteries (38 femoral triangles) with closure by a Prostar((R)) percutaneous arterial closure device (Abbott). The other 21 patients (control group B) were managed with a bifurcated endograft placed by conventional open surgery (42 femoral triangles). Data concerning all 40 patients were collected prospectively and analyzed. RESULTS: The technical success rate was 92% (group A) vs 90% (group B), P=0.79. The incidence of perioperative complications was 16% (3/19) in group A and 14% (3/21) in group B (P=0.89). The mean hospital stay was 5.8 days in group A and 7.8 days in group B (P=0.05). The difference in the length of hospitalisation was associated with reduced cost for the percutaneous group (5579.60 euros vs. 7503.60 euros; P=0.04), that counterbalanced the cost induced by the Prostar XL((R)) suture mediated device. Mean follow-up in both groups was 12 months. The overall incidence of locoregional complications after one year of follow-up was 11% (2/19) in group A and 19% (4/21) in group B (P=0.45). CONCLUSION: This study confirms the feasibility and safety of total percutaneous endovascular AAA repair. Our preliminary results suggest that the costs paid by healthcare providers for endovascular AAA repair might not be increased with the selective use of percutaneous closure devices.     

Multivariate model specification for fMRI data

We present a general method-denoted MoDef-to help specify (or define) the model used to analyze brain imaging data. This method is based on the use of the multivariate linear model on a training data set. We show that when the a priori knowledge about the expected brain response is not too precise, the method allows for the specification of a model that yields a better sensitivity in the statistical results. This obviously relies on the validity of the a priori information, in our case the representativity of the training set, an issue addressed using a cross-validation technique. We propose a fast implementation that allows the use of the method on large data sets as found with functional Magnetic Resonance Images. An example of application is given on an experimental fMRI data set that includes nine subjects who performed a mental computation task. Results show that the method increases the statistical sensitivity of fMRI analyses.