Hepatocellular carcinoma with polymyositis as an initial symptom: a case report.

Patients with hepatocellular carcinoma may manifest paraneoplastic syndromes such as hypercholesterolaemia, hypoglycaemia, hypercalcaemia and erythrocytosis. An exceptional case of hepatocellular carcinoma associated with polymyositis, a rheumatic paraneoplastic syndrome, is reported. A 72-year-old male complained for a recent muscular weakness mainly in the proximal limb muscles. The clinical course, a raised level of serum creatine kinase and electromyographic findings suggested polymyositis, and the pathological findings on muscle biopsy were compatible with this diagnosis. Computed tomography of the upper abdomen revealed a mass lesion in segment IV, V and VII of the liver, and alpha foetoprotein level was high, resulting in the diagnosis of hepatocellular carcinoma.

[Infection of a tophaceous nodule of the middle finger]. / Infection d'un tophus goutteux de la main.

Gouty involvement of the hand is uncommon and the complications the most described are bony destruction, digital joint instability, tenosynovitis and double ipsilateral tunnel syndrome of the median and ulnar nerves at the wrist. Septic complications, such as infection of a tophaceous nodule, are a rare entity. The authors report a case of an infection of a tophaceous nodule of the middle finger in a 67-year-old man. The diagnosis was suspected on physical examination and radiological findings but final diagnosis is provided by bacteriological examination. This case is presented to heighten awareness of this rare entity and to provide a setting for a discussion of management.

Association of specific amino acid sequence (QRRAA) of HLA-DRB1*0405 with rheumatoid arthritis in a Tunisian population.

This study aimed to investigate HLA-DRB1 alleles in rheumatoid arthritis (RA) patients from Tunisia and to examine the effect of these alleles on disease severity. HLA-DRBI alleles and sub-typing of DRBI*04 and *01 were determined in 90 patients and 100 healthy controls, by PCR-SSP. HLA-DRB1*04 was significantly higher in patients (51.1%) than in controls (27%) [OR=2.83, p=0.00066]. DRBJ*0405 was found to be the unique DR4 allele associated with RA (28.88% vs 6%) [OR=6.36, p=0.000059]. A significant decrease in the frequency of HLA-DRB1*0701 was observed in RA patients (16.66%) compared to controls (36%) [p=0.0026]. However, the frequency of patients carrying the shared epitope (SE) QRRAA, was slightly increased compared with controls (37.8% vs 23%) [OR=2.03, p=0.039]. We found that the presence of rheumatoid factor, HLA-DR4 and HLA-DRBI*0405 were not significantly associated with bone erosions or the presence of extra-joint involvement. In our population, the SE (QRRAA) expressed in DRBI*04 alleles is related to the susceptibility to RA but it is not involved in RA severity in Tunisia, while DRBI*0701 might protect against this disease.

[Function of aurora kinase C (AURKC) in human reproduction]. / Rôle d'aurora kinase C (AURKC) dans la reproduction humaine.

Infertility concerns at least 70 million couples worldwide. An important proportion of cases is believed to have a genetic component, yet few causal genes have been identified so far. Hundreds of genes are probably involved in spermatogenesis and oogenesis and this genetic heterogeneity has so far hindered the identification of genes causing infertility in the human. Careful morphological examination of spermatozoa can provide cues to identify homogeneous cohorts of patients likely to have the same genetic defect. We studied a cohort of North-Africans patients with a rare phenotype of large-headed spermatozoa. Using a homozygosity mapping strategy, we could map the morbid gene and we identified the same homozygous mutation (c.144delC) in the aurora kinase C gene (AURKC) of all patients studied initially. We then genotyped a total of 62 patients. All who had a typical phenotype with close to 100% large-headed spermatozoa were homozygously mutated (n=34), whereas no AURKC mutations were detected in the others. A carrier frequency of 1/50 was established from individuals from the Maghrebian population, indicating that 1 in 10,000 men from North-African can be expected to present this form of infertility, a frequency comparable to that of Y-microdeletions, thus far the only known recurrent genetic event altering spermatogenesis. Then we demonstrated by flow cytometry that all spermatozoa have in fact a homogeneous 4C. We recommend the realisation of a molecular diagnosis to all patients with large-headed spermatozoa. ICSI is formally contraindicated for all homozygous patients who can have recourse to donor sperm or adoption. One cannot be as categorical for the patients not harbouring an AURKC mutation.

Functional polymorphisms of PTPN22 and FcgR genes in Tunisian patients with rheumatoid arthritis.

To investigate a possible association between functional polymorphisms of the protein tyrosine phosphatase nonreceptor type 22 (PTPN22-R620W) and receptors for the Fc fragment of IgG (FcgRIIa-H131R, FcgRIIIa-F158V FcgRIIIb-NA1/NA2), and rheumatoid arthritis (RA), 133 Tunisian patients with RA and 100 controls were genotyped. We found strong evidence of an association of PTPN22 620W allele and RA. However, analysis does not detect an association between auto-antibodies seropositivity, presence of nodules or erosions and this allele. No significant skewing of any of the three FcgR polymorphisms was seen in this RA group. Nevertheless, we identified FcgRIIIa-V/V158 as the most important FcgR genotype for severe disease subset with joint erosions and observed that patients with FcgRIIIb-NA2/NA2 genotype had an earlier incidence of clinical symptoms. In conclusion, we have confirmed that PTPN22 620W allele is associated with Tunisian RA but does not constitute a factor influencing clinical manifestations. Conversely, this study supports that the FcgRIIa/IIIa and IIIb polymorphisms could influence the course and the severity of this disease. A large number of samples are required to provide independent confirmation of these findings.

[Vertebral hydatidosis: medical imaging and management. A case report]. / L'hydatidose vertébrale: apport de l'imagerie moderne et actualités thérapeutiques. A propos d'un cas.

Vertebral hydatidosis (VH) is uncommon. It is the most frequent skeletal manifestation of echinococcosis. It is also the most serious one. We report a case of VH revealed by a kyphoscoliosis with dorsal pain and point out the contibution of new medical imagings in the diagnosis of VH and in the patient follow-up. We stress on the difficulties of the care management of this disease and its poor prognosis because of the risk of neurological damages and frequent recurrences.

[Arthritis of the hip in spondylarthorpathy: retrospective study about 126 cases]. / Les coxites au cours des spondylarthropathies: Etude rétrospective à propos de 126 observations.

PURPOSE: To determine epidemiological and clinical features of arthritis of the hip in a Tunisian population of spondylarthrpathy (SA). PATIENTS AND METHODS: This is a retrospective study about patients suffering from SA treated in a rheumatology unit. A radiological investigation of the pelvis was systematically performed on each patient. RESULTS: The study in involved 126 cases of SA (83 men and 43 women), with a middle age of 32.6 years. Arthritis of the hip showed within 3.8 years. Total hip arthroplasty was indicated in 18% of cases. Arthritis of the hip in spondylarthropathy is an important cause of functional disability. We insist in our study on the frequency of arthritis of the hip in North Africa and particularly in patients aged under 16 years.

[Primary hypertrophic osteoarthropathy without cutaneous involvement (Currarino's disease)]. / Ostéoarthropathie hypertrophiante primitive sans atteinte cutanée (maladie de Currarino).

INTRODUCTION: Hypertrophic osteoarthropathy (HOA) is a syndrome associating hippocratic fingers, arthropathy and periostosis of long bones. Currarino's disease, considered at present as a clinical form of primary HOA, is characterized by the absence of pachydermia. OBSERVATION: A 24-year-old Caucasian man, consulted for a painful swelling of both ankles that had developed over the past year. Clinical examination revealed hippocratic fingers without pachydermia. The ankles were swollen. The X-rays showed periosteal apposition and an acro-osteolysis. In view of this triad: arthropathy, hippocratic fingers and periostosis, primary HOA without cutaneous involvement or Currarino's disease was diagnosed. The search for a secondary cause remained negative. Clinical improvement was obtained after 15 months with non-steroidal anti-inflammatory drugs (NSAID) and colchicine. COMMENTS: Although exceptional, primary HOA without cutaneous involvement is a genetic disease which must not be ignored.

[Research on Parvovirus B19 infections and chronic articular manifestations in a Tunisian hospital]. / Recherche du Parvovirus B19 dans les manifestations articulaires chroniques en milieu hospitalier tunisien.

Parvovirus B19 infection is often associated with acute and chronic joint diseases thus suggesting an etiologic role for the virus in these pathologies. In this work, we looked for a possible correlation between Parvovirus B19 infection and certain types of chronic inflammatory rheumatisms. We therefore, screened a population of 100 patients with different chronic inflammatory rheumatismal affections for serological markers of Parvovirus B19 infection. All patients were Tunisians of both sexes, who presented at the service of Rheumatology of the Charles Nicolle Hospital, Tunis. One hundred blood donors were taken as controls. Specific Immunoenzyme Assays of the ELISA type (Biotrin International, France) were used to detect anti-Parvovirus IgG and IgM. On the other hand, viral DNA was sought by nested PCR in synovial fluid from 14 patients. The data obtained indicate that specific anti-Parvovirus B19 IgG was detectable in the sera of 80.7% of patients and 43% of controls. In contrast, none of the sera was found positive for specific IgM antibodies. Synovial fluid samples could be collected from 14 anti-Parvovirus B19 seropositive patients and were tested for the presence of viral DNA. None of the samples was found positive. The results of our serological study reinforce the hypothesis that Parvovirus B19 infection is associated with rheumatismal joint affections. However, the lack of detectable viral DNA in synovial fluid of the tested seropositive patients points to an indirect role of the virus in these joint disorders.

[Fatal postoperative crisis in acute hereditary porphyria]. / Crise post-operatoire fatale d'une porphyrie aiguë héréditaire.

The acute porphyria is an autosomal dominant disorder of the héme biosynthesis enzyme. The aim of this work is to determin a diagnostic step in order to anticipate porphyric crises. We report the observation of a child which was hospitalized in the pédiatric service three years ago for peripheric arthralgies and myalgies where the diagnosis of an acute porphyria was not posed. He wase admitted in our service for appendicitis, he was operated, the anesthesie was carried out by the thiopenthal and the succinylcholine. At the first post-operative day, a respiratory insufficiency was the cause of death. The rate of coproporphyrines and of uroporphyrines in the urine had confirmed the diagnosis of acute porphyria. The positive diagnostic of acute porphyria is difficult, the association of abdominal, psychological and neurologic signs must suggest the diagnostic, all the more, if the urines have a dark colour. The presence of uroporphyrines and coproporphyrines and certain precursors in the urines or in the high-rated stools confirm the diagnostic. The family survey and dosage of porphyric compounds in the sickness-bearing patient's family members allow to reveal certain asymptomatic forms of the heriditary acute porphyria, it is caused by certain products used in neuropsychiatry, in aneasthesic or in certain circunstances, such as, the infection or the trauma. The treatment of the acute porphyria is an emergency wich requires the transfert of the patient to a unit of intensive care.

[Erosive spondylarthropathy in hemodialysis. A case report]. / La spondylarthropathie erosive des hemodialyses. A propos d'un cas.

We report a case of 67-year-old woman with 11-year history of hemodialysis that complain of neck pain associated with cervico-brachial neuralgia. Imaging finding simulate infectious spondylitis. We consider the diagnosis of destructive spondylarthropathy in hemodialyzed patient since etiologic investigation was negative and RMN finding was suggestive. Our patient was partially improved with symptomatic treatment.

[Rheumatic spondylodiscitis in spondylarthropathies]. / Spondylodiscite rhumatismale au cours des spondylarthropathies.

The involvement of enthesis like disc space is the typical lesion of spondylarthropathies. Out of 240 patients with spondylarthropathies, 10 (7 M, 3 W; mean age: 37 years) have spondylodiscitis, affecting a total of 13 disc spaces: 1 cervical, 2 thoracic, 10 lumbar. The mean duration of spondylarthropathy at the time of diagnosis of spondylodiscitis is 10 years. Spondylodiscitis has a variable clinical presentation: painful (6 cases), asymptomatic (4 cases). Its coexistence with typical radiographic signs of spondylarthropathy added to the exclusion of bacterial origin, permit to link it to spondylarthropathy. Its evolution is generally favourable.