Patelar metastasis of primary lung cancer

Patellar metastasis is uncommon. The clinical presentation is often misleading, suggestive of septic arthritis or meniscal disorder after knee trauma. We report the case of a 71-year-old patient who developed knee pain aggravated by movement with pseudo-blockage which was found to be related to a secondary localization of a primary lung cancer. Low blood flow in the patella probably explains why patellar metastasis is so rare.     

A novel 22 bp deletion in a Tunisian phenylketonuria family

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase. To date, more than 530 mutations in the PAH gene have been reported. In Tunisia, this disease seems to be the result of point mutations, few studies have been published about molecular defects of PKU in our country. In this study, we report a novel deletion in exon 6 of two brothers in a Tunisian family after DHPLC analysis and sequencing of the exon 6 of the PAH gene.     

Percutaneous nephrostomy in the treatment of pyonephrosis. A comparative study apropos of 36 cases

This study is a comparison of the treatments used in 36 patients suffering from pyonephrosis. The patients were subdivided in two groups: cases having undergone previous percutaneous drainage; and cases having undergone primary nephrectomy. These latter cases presented a high complication rate. We believe that preliminary drainage by percutaneous nephrostomy, constitutes the procedure of choice, when ever possible, to drain the kidney and prepare the patient for nephrectomy.     

Case report: Hydatid cyst of the aorta

We report a rare case of hydatid cyst presenting as a 13 cm cyst in the wall of the lower mediastinal portion of the thoracic aorta associated with splenic and peritoneal cysts. The diagnostic problems are discussed.     

Intrathoracic pressure measurement in cattle: standardized procedure

A procedure to standardize the position of an esophageal catheter (eso-cat) tip, used to measure intrathoracic pressure, was tested in ten healthy Dutch Friesians. The cattle were in normal condition with body weights (BW) between 52 and 670 kg and thoracic perimeters (TP) between 80 and 210 cm. The position of the neck and head was standardized. The eso-cat was introduced via the nose into the thoracic portion of the esophagus. The distance between the nares and the eso-cat tip (Lcat), which was positioned between the crossing point with the aorta and the caudal mediastinal lymph nodes, was measured for each animal. The regression equation, calculated between the Lcat and the BW and TP was, respectively: Lcat (cm) = 65 + 0.115 x BW (kg) (r2 = 0.99) and Lcat (cm) = 22 + 0.535 x TP (cm) (r2 = 0.97). The corresponding residual standard deviations were respectively 2.52 and 4.37 cm. The multiple and curvi-linear regression equation did not give a significantly better fit of the data.     

An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene

Background

Peters Plus syndrome (MIM 261540) is a rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor abnormalities. Mutations in the B3GALTL gene encoding the β-1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome.

Case Presentation

We report here a female patient with severe manifestations of Peters Plus syndrome including facial dysmorphism and bilateral corneal opacity associated with left renal pyelo-calicial dilatation and sexual ambiguity. Total sequencing of the B3GALTL gene revealed no mutation in the patient.

Conclusion

To our knowledge, sexual ambiguity has not previously been reported in Peters Plus syndrome so far, and renal malformation is also apparently rare in the syndrome.     

Association and frequency of HLA-A, B and HLA-DR genes in south Tunisian patients with spondyloarthritis (SpA)

The aim of this study is to investigate the association of HLA-A, B and HLA-DR gene expression and to assess an association of additional HLA antigens besides HLA-B27 in south Tunisian patients with spondyloarthritis (SpA). Eighty-five patients diagnosed with ankylosing spondylitis (AS, n=68) and reactive arthrithis (ReA, n=17) were selected and compared with 100 healthy controls (HC). HLA class I antigens were typed serologically using microlymphocytotoxicity technique. HLA-DRB1* alleles were studied by polymerase chain reaction amplification with sequence-specific primers. The significance of differences between patients and controls was tested by chi-square analysis. We found significantly increased frequencies of HLA-A3 (30.6%; pC=0.04; OR=2.95), HLA-B27 (62.35%; pC=4.10(-17), OR=53.55), and HLA-DRB1*15 (17.2%; pC=0.026; RR=2.58) alleles in SpA patients compared to HC. The most frequent and strongest association was observed for HLA-B27 in AS (pC=6.6 ×10(-16), OR=52.23). When AS and ReA patients were analysed separately, HLA-DRB1*15 and HLA-A3 were increased only in AS (pC=0.01, OR=2.99 and pC=0.03, OR=3.14, respectively). In ReA patients, HLA-DRB1*04 (p=0.033, pC=NS, OR=2.89) was found to be the most common allele. By analysing the HLA-B27-negative subgroup, HLA-A3 and HLA-DRB1*15 expression was found to be dependent on the presence of HLA-B27. HLA-B27 expression was higher in male (45/53; 85%) as compared to female (8/53; 15%) patients (p=0.03). Apart from HLA-B27, HLA-A3 and HLA-DRB1*15 are the MHC class I and II alleles found most frequent in Tunisian patients with AS, whereas HLA-DRB1*04 was found most frequent in ReA patients. HLA-B27 is more frequent in male than in female patients.