ABSTRACT
Although epidemiological evidence suggests a human genetic basis of pulmonary tuberculosis (PTB) susceptibility, the identification of specific genes and alleles influencing PTB risk has proven to be difficult. Previous genome-wide association (GWA) studies have identified only three novel loci with modest effect sizes in sub-Saharan African and Russian populations. We performed a GWA study of 550,352 autosomal SNPs in a family-based discovery Moroccan sample (on the full population and on the subset with PTB diagnosis at <25 years), which identified 143 SNPs with p < 1 × 10(-4). The replication study in an independent case/control sample identified four SNPs displaying a p < 0.01 implicating the same risk allele. In the combined sample including 556 PTB subjects and 650 controls these four SNPs showed suggestive association (2 × 10(-6) < p < 4 × 10(-5)): rs358793 and rs17590261 were intergenic, while rs6786408 and rs916943 were located in introns of FOXP1 and AGMO, respectively. Both genes are involved in the function of macrophages, which are the site of latency and reactivation of Mycobacterium tuberculosis. The most significant finding (p = 2 × 10(-6)) was obtained for the AGMO SNP in an early (<25 years) age-at-onset subset, confirming the importance of considering age-at-onset to decipher the genetic basis of PTB. Although only suggestive, these findings highlight several avenues for future research in the human genetics of PTB.
Subject(s)
Genome-Wide Association Study , Tuberculosis, Pulmonary/genetics , Adolescent , Adult , Age of Onset , Aged , Alleles , Case-Control Studies , Child , Child, Preschool , Female , Forkhead Transcription Factors/genetics , Forkhead Transcription Factors/metabolism , Genetic Loci , Genotyping Techniques , Humans , Infant , Introns , Male , Middle Aged , Mixed Function Oxygenases/genetics , Mixed Function Oxygenases/metabolism , Morocco , Mycobacterium tuberculosis , Polymorphism, Single Nucleotide , Repressor Proteins/genetics , Repressor Proteins/metabolism , Reproducibility of Results , Risk Factors , Tuberculosis, Pulmonary/microbiology , Young AdultABSTRACT
Multiple myeloma is a malignant proliferation of plasma cells, mainly affecting the bone marrow. It rarely occurs in young patients. The medical observation study reveals multiple myeloma discovered through a purulent pleurisy in a 28-year-old subject. This patient was admitted to the pneumology service of the Mohamed V military hospital in Rabat for a fever and dyspnea evolving into a context of poor general condition. Clinical examination found a right pleural fluid effusion syndrome. The pleural puncture reveals a germ-free exudative purulent fluid without plasma cells. The myeloma diagnosis was suspected due to the combination of an aplastic normochromic normocytic anemia at 4.5g/dL of hemoglobin, an accelerated erythrocyte sedimentation rate, hypercalcemia, renal failure and osteolytic lesions located mainly in the skull and pelvis area, oriented by electrophoresis and serum protein immunosubstraction revealing a narrow peak in monoclonal beta-2 globulin at 70.56g/L with a lambda monoclonal gammopathy with immunoglobulin G, and confirmed by the myelogram showing a 74% rate of bone marrow plasma cells. The occurrence of myeloma at a young age is rare and the purulent pleurisy without plasma cells is a rare form of presentation and represents a poor prognosis.
Subject(s)
Multiple Myeloma/diagnosis , Pleurisy/etiology , Adult , Humans , Male , Pleural Effusion, Malignant/etiologyABSTRACT
The laryngeal tuberculous is the most frequent granulomatous disease of the larynx. It is generally associated with a pulmonary cave, and represents a prognosis element extremely serious and can be complicated extreme dysphagia and pains. Among all the extrapulmonary localisations. The isolated laryngée localisation is rare. It is secondary the dissemination coming hematogen, air or lymphatic way. All the structures of the larynx can be reached. The beginning is progressive and insidious and appears by the dysphony, cough, the odynophagy and dyspnea. We report the case of laryngeal tuberculosis in a 21 year old young man. The authors point out the characteristics of this localization and insist on the biopsy in front of any chronic laryngitis no aetiology. The treatment is medical.
Subject(s)
Tuberculosis, Laryngeal/complications , Tuberculosis, Laryngeal/diagnosis , Adult , Humans , Male , Severity of Illness Index , Tuberculosis, Laryngeal/pathology , Voice Disorders/diagnosis , Voice Disorders/etiologyABSTRACT
Behcet syndrome is a systemic disease with venous tropism, generally expressed by thrombosis and phlebitis. Arterial involvement is more exceptional but can lead to aneurysm of the pulmonary artery, generally not more than three. We report a patient with Behcet syndrome who developed multiple aneurysms of the pulmonary artery and discuss the clinical, radiological aspects as well as the disease course and therapeutic management.
