ABSTRACT
BACKGROUND: Our study aimed to investigate the association between multidrug resistance (MDR1) C1236T, C3435T and G2677T/A polymorphisms and the response to imatinib (IM) in chronic myeloid leukemia (CML). MATERIALS AND METHODS: An electronic databases in PubMed, Embase, Web of Knowledge, Scopus and Cochrane were searched using combinations of keywords relating to MDR1 polymorphisms and the response to IM in CML. Studies retrieved from database searches were screened using strict inclusion and exclusion criteria. RESULTS: In total, 37 studies were initially identified, and 17 studies, involving 4494 CML patients, were eventually included in this meta-analysis.Results of our study revealed significant association between MDR1 G2677T/A and C3435T polymorphisms and response to IM in Caucasian population under recessive model (T or A vs G; OR = 1.43,95%CI [1;06-1.93]; T vs C;OR = 1.13; 95%IC [0.79; 1.63]), dominant (T or A vs G; OR = 0.94; 95%CI [0.74-1.21]; T vs C; OR = 1.49; 95%CI [1.02-2.17]) and heterozygous models (T or A vs G; OR = 0.83; 95%CI [0.64; 1.09]; T vs C; OR = 1.52; 95%CI [1.01-2.28]); respectively. However, never significative association was found between IM response and the MDR1 C1236T polymorphism (OR = 1.25; 95%CI [0.46; 3.33]). CONCLUSION: The MDR1 G2677T/A and C3435T polymorphisms might be a risk factor for resistance to IM in Caucasian CML patients.
Subject(s)
Imatinib Mesylate , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Polymorphism, Single Nucleotide , ATP Binding Cassette Transporter, Subfamily B/genetics , Genotype , Humans , Imatinib Mesylate/therapeutic use , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/geneticsABSTRACT
Müllerianosis of the urinary bladder is a rare entity characterized by the presence of an admixture of at least two types of müllerian tissue in the muscularis propria of the bladder. We report the case of a 43-year-old male patient presented for urological evaluation due to episodes of total gross hematuria. Physical examination revealed ambiguous external genitalia. Abdomiopelvic CT scan revealed a tumor at the level of the bladder floor. Transurethral resection of the bladder lesions was done and histopathological studie confirmed the diagnosis of müllerianosis. Karyotype analysis showed a 46 XX male syndrome.
ABSTRACT
PURPOSE OF THE STUDY: The purpose of this work was to present a descriptive analysis of eight cases of congenital agenesia of the anterior cruciate ligament (ACL). Congenital absence of the ACL is rare. The few series reported in the literature have been limited to sporadic cases all associated with diverse malformations. We report a series of eight cases knees in five patients presenting congenital knee laxity. These patients were all members of the same family, raising the question of an inherited condition. We describe the characteristic features and natural history of ACL agenesia compared with post-traumatic loss of the ACL. MATERIAL: This descriptive study included five patients (eight knees) with agenesia of the ACL. There were four men and one woman, mean age 46 years. All five patients had a common ancestor. RESULTS: The main symptom was medial femorotibial and patellofemoral pain, present in all patients. Physical examination revealed major anterior laxity (positive pivot test, Trillat Lachman test) involving the posterior capsule and ligament structures and an abnormal knob on the anterior tibial tubercle. Plain x-rays demonstrated an abnormal aspect of the tibial spines, suggestive of ACL agenesia. The spines were flat in three knees, smooth in three, and dome shaped in two. On the lateral view, the femoral condyles presented an abnormal rounded posterior curvature in all of the affected knees. The tibial slope was increased in all knees, 20.6 degrees on average. MRI and arthroscopy confirmed the diagnosis in three knees. DISCUSSION: Examining our cases and the data in the literature led to the following remarks. The family pedigree in our patients suggested autosomal dominant inheritance. Episodes of serious laxity are rare in subjects with congenital absence of the ACL compared with posttrauma patients, probably due to adaptation since infancy. Hypoplasia of the tibial spine and the lateral femoral condyle are characteristic consequences of ACL agenesia. In comparison with posttrauma cases, the natural history of ACL agenesia is characterized by better functional tolerance and inevitable progression to osteoarthritis due to the permanent anterior laxity. Degenerative disease may develop late and more slowly than after traumatic injury of the ACL. Unlike common arthrosis, the lateral femorotibial and patellofemoral compartments are preserved longer. CONCLUSION: Though rare, congenital absence of the ACL should be evoked as a possibility in patients with chronic anterior laxity without trauma. The radiological aspect is highly suggestive of the diagnosis which can be confirmed by MRI or arthroscopy. Study of the present series enabled a description of the natural history of ACL agenesia, which is different from that of traumatic ACL tears because of the lack of secondary meniscal lesions and the later progression of osteoarthritic degeneration.
Subject(s)
Anterior Cruciate Ligament/abnormalities , Adult , Aged , Anterior Cruciate Ligament/diagnostic imaging , Congenital Abnormalities/genetics , Female , Humans , Male , Middle Aged , Pedigree , Phenotype , RadiographyABSTRACT
PURPOSE OF THE STUDY: Several therapeutic options have been proposed for the treatment of Kienbock's disease, including shortening of the radius. We report results in a series of 31 cases treated by diaphyseal radial shortening with a mean 6-year follow-up (range 1 - 18 years). MATERIAL AND METHODS: The series included 19 women and 12 men, mean age, 26 years (range 17 - 47 years). According to the Lichtmann classification there were 7 grade II, 23 grade IIIa and 1 grade IIIb. Mean shortening was 4.5 mm, ranging from 3 to 6 mm. Pain, mobility, muscle force and radiological presentation were assessed. RESULTS: Pain relief was achieved in all patients; 20 patients were entirely pain free and 11 had exceptional minor pain at exertion. Mean gain in mobility was 22 p. 100 both for palmar flexion and for dorsal flexion. Muscle force was improved in 30 cases with normal force in 18 and slightly less than normal force in 12. Muscle force remained insufficient in one case. According to the Michon criteria, there were 80 p. 100 excellent and good results. The radiographic assessment showed 14 improvements, 16 stabilizations, and 1 aggravation. Overall clinical ouctcome was independent of age, and preoperative radiographic aspect and length of the ulna. In addition, there was no correlation betwen radiological changes of the lunatum and the clinical result. CONCLUSION: Osteotomy for diaphyseal shortenig of the radius is a reliable simple procedure which does not require supplementary immobilization and which avoids complications encountered with self-compressive paltes.
