Konno aortoventriculoplasty: indications and results. 13 cases

BACKGROUND: Konno procedure is used to enlarge the aortic root and increase the size of the aortic valve implanted. AIM: The aim of this study is to present the indications of the Konno procedure in congenital and acquired aortic lesions, in young patients with normal or hypoplastic aortic annulus or adults with small aortic annulus. METHODS: We reported our experience of this technique with a retrospective study of 13 patients operated on between 1998 and 2004. RESULTS: The mean diameter of aortic annulus measured in echocardiography is 16.2 mm, and the mean prosthetic valve diameter in post operative control is 20.3 mm. The early Death rate was 16%. In the late follow up of 2 years, the only predictor of myocardial hypertrophy regression was the presence of aortic insufficiency before the operation. In the literature, Konno procedure is reported as a good surgical option for the enlargement of the left ventricular outflow tract, but the results with the Ross-Konno operation are more promising.     

Critical role of JC virus-specific CD4 T-cell responses in preventing progressive multifocal leukoencephalopathy

BACKGROUND: JC virus (JCV) is ubiquitous among the general population. However, only individuals with severely impaired immunity, mainly AIDS patients, develop progressive multifocal leukoencephalopathy (PML). Here, we examined the role of specific CD4 T cells in the control of JCV infection. METHODS AND DESIGN: JCV-specific CD4 T-cell responses were investigated by assaying peripheral blood mononuclear cell proliferation in response to the purified virus. Four groups of individuals without PML were examined: 14 HIV-seronegative healthy donors and 25 HIV-infected patients without PML, separated into urinary JCV excretors (active infection) and non-excretors, according to JCV PCR on urine. Two groups of patients with PML were also studied: 14 HIV-infected patients with active PML; and 10 PML survivors on effective and prolonged antiretroviral therapy. All of the patients were PCR-positive for JCV in the cerebrospinal fluid at the time of diagnosis of PML. RESULTS: No significant anti-JCV CD4 T-cell proliferation was found in any of the non-excretors tested. All nine healthy donors and seven of the 13 non-PML HIV-infected patients with urinary JCV excretion had positive JCV-specific CD4 T-cell responses. No significant response was found in the 14 patients with active PML, while nine of the 10 PML survivors had positive responses. Restoration of JCV-specific CD4 T-cell responses was associated with JCV clearance from the cerebrospinal fluid. CONCLUSION: JCV-specific CD4 T-cell responses appear to play a critical role in the control of JCV infection, preventing PML development. Such responses can be restored in PML survivors following effective and prolonged antiretroviral therapy.     

In patients on prolonged HAART,a significant pool of HIV infected CD4 T cells are HIV-specific

OBJECTIVES: To examine the antigen specificities of HIV reservoir CD4 T cells in patients on prolonged and effective highly active antiretroviral therapy (HAART). DESIGN: Five HIV-infected patients, who were highly adherent to antiretroviral treatment, were selected on the basis of long-term undetectable plasma viral RNA on unmodified HAART. To investigate the antigen specificities of infected memory CD4 T cells, we examined the capacity of recall antigens, including HIV antigens, to induce virus production by peripheral blood mononuclear cells (PBMC). METHODS: To quantify CD4 T cells infected by replication-competent virus, and to determine their antigen specificities, we used a limiting dilution-based culture assay. CD8 T cell-depleted PBMC at several cell densities were activated by using Tuberculin purified protein derivative, cytomegalovirus, or HIV-1 p24 with and without HIV-1 Nef. RESULTS: We found that the pool of infected CD4 T cells includes HIV-specific cells with apparent frequencies between 5- and 100-fold higher than those of the common specificities for cytomegalovirus or Tuberculin. CONCLUSION: Our findings suggest that a significant proportion of replication-competent HIV-infected CD4 T cells in these patients are memory cells directed against HIV determinants. This may provide a rationale for the therapeutic use of recombinant HIV antigens to reduce the pool of HIV-reservoir cells.     

Insuffisance rénale aiguë révélant une hypothyroïdie auto-immune

Although the clinic picture is often indicative of muscle manifestations in patients with hypothyroidism, signs and symptoms of this condition are variable from simple elevation of serum muscle enzymes with myalgia, muscle weakness, cramps to rhabdomyolysis with acute renal failure which remains a rare event. Thyroid hormones affect the function of almost every body organ, and thyroid dysfunction produces a wide range of metabolic disturbances. Hypothyroidism is associated with significant effects on the kidney which the pathophysiology seems to be multifactorial, but the exact mechanisms remain poorly understood. Hypothyroidism as a cause of renal impairment is usually overlooked, leading to unnecessary diagnostic procedures. The main objective of our observation is to report a case of acute renal failure revealing an autoimmune hypothyroidism in which thyroid hormone substitution led to a significant improvement in muscular, thyroid and renal disorders.     

A case of rheumatoid arthritis complicated by a chronic myeloid leukemia associated with pyoderma gangrenosum

Rheumatoid arthritis may be associated with an increased risk of hematological malignancy. Increased lympho-proliferative malignancy in rheumatoid arthritis is often described; however an increased risk of leukemia is not a common finding. A few cases of rheumatoid arthritis have been documented associated with chronic myeloid leukemia in the literature. We report a new case.Case presentationA 36-year-old Moroccan female diagnosed as rheumatoid arthritis eight years ago, was on remission under Methotrexate and prednisone. This therapy was stopped one year before her admission at our hospital because of thrombopenia and anemia. She had polyarthritis flare. The physical examination found splenomegaly, hepatomegaly, and skin lesions at the trunk and limbs. Peripheral blood findings, peripheral smear and bone marrow aspiration diagnosed myeloid leukemia in a blastic accelerated phase with negative Philadelphia chromosome. The skin lesions were diagnosed as pyoderma gangrenosum (skin biopsy). She received oral prednisone and chemotherapy (Cytarabine and 6-Mercaptopurine). She had a complete response on the skin lesions, partial regression of splenomegaly, and improvement of her hematologic disorders. Unfortunately the patient died from septic shock after two weeks of post-chemotherapy pancytopenia.ConclusionWe report an unusual case of rheumatoid arthritis complicated by chronic myeloid leukemia associated with pyoderma gangrenosum. It is unclear whether the development of chronic myeloid leukemia in the patient with rheumatoid arthritis occurs by chance alone, is due to the underlying disease, or is facilitated by drugs. Whatever the cause is, it should be kept in mind that chronic myeloid leukemia may develop in the course of rheumatoid arthritis.     

Acute tibial tubercle avulsion fractures in the sporting adolescent

Introduction  The authors report 7 cases of acute tibial tubercle avulsion fractures. The fracture occurred in 6 out of the 7, after an abrupt tension of the patellar tendon in male sporting adolescents (age 13–17 years). Two patients presented symptoms of homolateral Osgood-Schlatter’s disease before the lesion. Method  According to Ogden’s classification, the tibial tubercle avulsion fracture was not displaced in 3 cases (stage IA) and was treated conservatively by immobilization for 6 weeks. In 4 cases, the fracture was displaced and necessitated an internal fixation with plaster for about 6 weeks. A torn patellar tendon was noted in one adolescent having a stage IIIB avulsion fracture. Result  The mean follow-up was of 4.5 years (1.5–7.5 years). The results were satisfactory: complete functional recovery, resumption of sport at the previous level and absence of recurvatum.     

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever

OBJECTIVES: To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations in Tunisian patients. PATIENTS AND METHODS: This study was performed in the Genetic Department of Tunis University Hospital. A clinical diagnosis of FMF was made according to published criteria. Mutation screening of the MEFV gene was performed in the Human Genetic Laboratory of the "Faculté de Medecine de Tunis" for 8 mutations including the 5 most common known mutations M694V, V726A, M694l, M680l, and E148Q. The tests performed were polymerase chain reaction (PCR) restriction-digestion for M694V, V726A, M680l, R761H, E148Q; amplification refractory mutation system for A744S, M694l; and PCR-electrophoresis assay for l692del. RESULTS: Of the 139 unrelated patients investigated, 61 (44%) had 1 or 2 mutations. In 78 (56%) probands no mutation was identified: 28 patients were homozygous; 16 were compound-heterozygous; 2 had complex alleles; and 17 had only 1 identifiable mutation. Of the mutations, M680l, M694V, M694l, V726A, A744S, R761H, l692DEL, and E148Q accounted for 32, 27, 13, 5, 3, 1, 1, and 18%, respectively. CONCLUSION: The profile of the MEFV gene mutations in the Tunisian population is concordant with other Arab populations but with some differences. M680l is the most common mutation, while V726A, the commonest mutation among Arabs, is rare in our population.     

Megaloblastic anemia in North Africa

We prospectively studied 478 patients with megaloblastic anemia living in Tunisia. Overall, 98% of patients had vitamin B12 deficiency. Pernicious anemia accounted for most of these cases, and median age at presentation was 45 years. Megaloblastic anemia occurred in 19 subjects under 15 years of age, and of these, nine had the Immerslund-Graesbeck syndrome.