Biozzi mice: of mice and human neurological diseases

In 1972 Guido Biozzi selectively bred mice to study the immunopathological mechanisms underlying polygenic diseases. One line, the Biozzi antibody high (AB/H) mouse (now designated the ABH strain) was later found to be highly susceptible to many experimentally induced diseases such as autoimmune encephalomyelitis, autoimmune neuritis, autoimmune uveitis, as well as virus-induced demyelination and has thus been a key mouse strain to study human inflammatory neurological diseases. In this paper we discuss the background of the Biozzi ABH mouse and review how studies with these mice have shed light on the pathogenic mechanisms operating in chronic neurological disease.     

Genital leiomyoma: surgical excision for both diagnosis and treatment of a unilateral leiomyoma of the male nipple

We describe a rare case of unilateral leiomyoma of the nipple in a man presenting with pruritus of the nipple for 3 months. A conservative surgical excision is performed for diagnosis. Histologic examination and immunostaining confirmed the diagnosis of leiomyoma. The leiomyoma is completely excised, and the patient denies pruritus after surgery. Conservative surgical excision of a persistently hard and pruritic nipple can be effectively used as both diagnostic measure and treatment modality.     

Angiosarcoma: a case report and review of the literature

Angiosarcoma is an aggressive neoplasm that predominantly affects elderly patients. Most cases appear on the scalp and face de novo; however, trauma, longstanding lymphedema, and irradiation are predisposing factors. Management includes a multidisciplinary team and may involve a combination of surgery, radiation, and chemotherapy tailored to the patient's age and associated comorbidities.     

Medical abortion: the Tunisian experience

This paper reports the Tunisian experience of medical abortion. The project started in 1998 with a small introductory study at the obstetric and gynaecology department of a university hospital and was later extended step by step to other family planning and public health centres that provided abortion services. The study was first conducted on 264 women using the modified regimen of 200mg mifepristone, followed 48 hours later by 400 microg misoprostol in women seeking pregnancy of maximum 56 days of amenorrhoea. This gave a success rate of 91.1%. Results from further studies in other locations showed increasing success rates of 94.4% and 95.6%, with high acceptability and satisfaction among users and providers The registration and effective introduction of medical abortion was quite rapid. Following successful conduct of the pilot study, intervention programmes were designed and implemented to improve the capacity of providers in providing safe medical abortion.     

Postinfectious diffuse proliferative glomerulonephritis and acute renal failure in an HIV patient

Postinfectious proliferative glomerulonephritis may occur in HIV-infected patients, although it is not a common cause of severe acute renal failure in them. We report a woman with HIV infection, who developed hypocomplementemic acute nephritic syndrome 10 days after an upper respiratory infection. Systemic diseases were excluded. The serum creatinine level increased to 6.6 mg/dl. Renal biopsy showed diffuse endocapillary proliferative glomerulonephritis, with mesangial and capillary walls, granular deposits of IgG and C3 by immunofluorescence. She was given corticosteroids with progressive normalization of her renal function. No opportunistic infections have occurred during 1-year follow-up.     

Jaccoud arthropathy and pyrophosphate arthropathy: a rare association

Jaccoud's arthropathy (JA) is a chronic deformity affecting hands and feet, which are voluntarily correctable by the patients. JA was usually reported in association with rheumatic fever and systemic lupus erythematosus. We describe an exceptional association between a pyrophosphate arthropathy and JA of the hands. It is a 48-year-old woman, having a 13 years history of polyarthritis involving shoulders, elbows, hips and knees, and 4 years after, a progressive unlar deviation of the fingers of the hands. Calcium pyrophosphate dihydrate crystals were identified in the synovial knee biopsy. Hands x-rays as RMI don't identify erosions and confirmed the JA.     

Evaluating the validity of animal models for research into therapies for immune-based disorders

The last few decades of the 20th century have shown an intensified search for safer and more effective medications against chronic diseases that burden ageing societies of the western world. The impressive development of biotechnological production techniques has greatly facilitated the pharmaceutical development of relatively non-toxic biological molecules. However, despite the huge investments, only a few effective therapies for immune-based diseases have reached the clinic. In this article we use examples from monoclonal antibody trials to discuss the validity and predictive strength of the animal models currently used for the development of effective therapies.     

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition

Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. A wide range of dysmorphic features and congenital abnormalities have been described in cases reported as Ohdo and Ohdo-like syndromes. We report a further two cases of Ohdo syndrome, one with mild features and the other more severely affected, illustrating the phenotypic variability of the condition. A review of the literature highlights the severe phenotype associated with distinctive facial features, as seen in Case 2 in this report All cases with the severe phenotype have been sporadic. Subtelomeric FISH studies of all chromosome arms on the two cases showed no abnormality. We propose clinical criteria for the diagnosis of Ohdo syndrome and delineate features of the severe phenotype.     

Imipenem resistance in Salmonella enterica serovar Wien related to porin loss and CMY-4 beta-lactamase production

Two multidrug-resistant Salmonella enterica serovar Wien strains (SW468 and SW1107) were isolated in 2001 in Tunis. Both strains produced the beta-lactamases TEM-1, SHV-2a, and CMY-4, whereas strain SW1107 also produced the beta-lactamase CTX-M-3. The imipenem-resistant strain (SW468) was totally devoid of the OmpF-immunorelated porin. Imipenem resistance was shown as being related to porin loss and CMY-4 beta-lactamase production.