CYP1B1 Gene Mutations Causing Primary Congenital Glaucoma in Tunisia

Primary congenital glaucoma (PCG) is responsible for a significant proportion of childhood blindness in Tunisia. Early prevention based on genetic diagnosis is therefore required. This study sought to determine the frequency of CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) mutations in 18 PCG patients, recruited from Central and Southern of Tunisia. Genomic DNA was extracted and the coding regions of CYP1B1 were analysed by direct sequencing. A phylogenetic network of CYP1B1 haplotypes was drawn using the median‐joining algorithm. Sequence analysis revealed a “tetra‐allelic mutation” (two novel mutations, p.F231I and p.P437A in the homozygous state) in one patient. The healthy members of his family carried those variations on the same allele. Two previously described mutations p.G61E and c.535delG were also identified in the homozygous state in seven and two probands, respectively. Seven single‐nucleotide polymorphisms were identified and used to generate haplotypes. Our results showed that the CYP1B1 mutations were present in 55% of Tunisian PCG patients’ alleles. Haplotype analysis allowed us to define the proto‐haplotype and to confirm historical migratory flows. Establishment of PCG genetic aetiology in Tunisia will improve genetic diagnosis and counselling.     

MR cartilage imaging in assessment of the regenerative power of autologous peripheral blood stem cell injection in knee osteoarthritis

Background

Osteoarthritis (OA) describes an age-related, heterogeneous group of disorders characterized pathologically by focal areas of loss of articular cartilage in synovial joints, associated with varying degrees of osteophyte formation, subchondral bone change, and synovitis. Currently, cartilage repair remains a major challenge for physicians, being avascular with limited regenerative capacity. Stem cell therapy opened new horizons for hyaline cartilage repair. Peripheral blood stem cells (PBSC) due to their multi-lineage potential, immunosuppressive activities, and limited immunogenicity, were tried as an intra articular injection.

Aim of study

To find out the regenerative effect of repeated intra articular injections of autologous PBSC in knee joints of OA patients using MR cartilage imaging.

Methods

10 patients (3 males and 7 females) diagnosed with bilateral knee joints OA were included in this study, they underwent history taking, clinical examination and MR cartilage imaging using the semi-quantitative whole joint assessment score of knee for OA (MOAKS). Three intra articular injections of 8 ml of autologous PBSC in each knee were administered. Clinical and MRI assessments were repeated after 1 year.

Results

A significant reduction was seen in all parameters post injection. MR images analysis showed increased cartilage thickness in 65 knee joint compartments out of 160 affected compartments.

Conclusion

Limited good level of evidence showed that repeated intra-articular injections of autologous PBSC resulted in an improvement of the quality of articular cartilage repair and physical function as observed by MRI and clinical assessment.     

The overlap syndrome of autoimmune hepatitis and primary biliary cirrhosis. Clinical and therapeutic analysis of 5 cases

Autoimmune hepatitis and primary biliary cirrhosis are two different liver diseases. The aim of this study is to relate the clinical, serologic and histologic features of patients presenting the overlap syndrome, and to evaluate their response to therapy. This is a retrospective study concerning patients presenting overlap syndrome diagnosed between january 1998 and December 2001. Five patients fulfilled the diagnosis criteria of overlap syndrome. The optimal type of treatment of the overlap syndrome was not known. Treatment with UDCA or immunosuppressor alone are not efficient. Combination of these drugs should be evaluated in further studies.     

Actinomycosis: report of 21 cases. Experience of the Anatomy and Cytopathologic Pathology Laboratory of the Rabta Hospital

Actinomycosis is a chronic suppurative granulomatous disease caused by an anaerobic Gram positive germ, Actinomyces. From 1994 to 1999, 21 cases of actinomycosis have been diagnosed in our laboratory. The main localisations were cervicofacial and gynecologic the diagnosis relies on histopathologic examination that shows actinomycosic granules.     

Pediatric respiratory tract diseases: Chronological trends and perspectives

Background

The aim of this study was to describe the epidemiological profile of childhood respiratory tract diseases (RTD) in the region of Sfax, Tunisia, and to evaluate their trends over a 13 year period.

Methods

We conducted a retrospective study of all children hospitalized with RTD aged under 14 years. We collected data from the regional morbidity register of the university hospital of Sfax from 2003 to 2015.

Results

A total of 10 797 RTD patients were enrolled from 49 880 pediatric hospitalizations (21.7%). A male predominance was noted (60%). The median age was 8 months (IQR, 2–36 months). Acute bronchitis (AB) accounted for 53.8%, followed by asthma (15%), pneumonia (14%) and acute upper respiratory infection (AURI; 7.2%). The hospital incidence rate (HIR) of RTD was 34/10 000 inhabitants/year. It was 18.2; 5.07; 4.7 and 2.4/10 000 inhabitants for AB, asthma, pneumonia and AURI, respectively. We noted a significant increase in the HIR of RTD with an annual percentage change (APC) of 10.94% (P < 0.001); in the HIR of AB (APC, 5.27%; P < 0.001); and in asthma HIR (APC, 11.2%; P < 0.001). Otherwise, a significant decrease in AURI HIR was observed (APC, –8.8%; P < 0.001). AB lethality rate increased significantly, with an APC of 7.4% (P < 0.001). Projected trends analysis up to 2024 showed a significant rise in AB and in asthma, while AURI would significantly decrease.

Conclusions

RTD continues to be a serious health problem over time in terms of morbidity and mortality. Preventive and curative strategies are needed urgently.     

Chronic recurrent annular neutrophilic dermatosis: A rare entity

We report a new case of chronic recurrent annular neutrophilic dermatosis in a woman. Through our observation, we aim to make the clinician aware of this rare entity, in order to consider it among the diagnostic hypotheses of annular dermatosis, with centrifugal, recurrent, and chronic evolution.