Blepharophimosis,ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female

Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder whose main features are the abnormal shape, position and alignment of the eyelids. Type I refers to BPES with female infertility from premature ovarian failure while type II is limited to the ocular features. A causative gene, FOXL2, has been localized to 3q23. We report a black female who carried a de novo chromosomal translocation and 3.13 Mb deletion at 3q23, 1.2 Mb 5′ to FOXL2. This suggests the presence of distant cis regulatory elements at the extended FOXL2 locus. In spite of 21 protein coding genes in the 3.13 Mb deleted segment, the patient had no other malformation and a strictly normal psychomotor development at age 2.5 years. Our observation confirms panethnicity of BPES and adds to the knowledge of the complex cis regulation of human FOXL2 gene expression.     

Design, synthesis, and biological evaluation of chromone-based p38 MAP kinase inhibitors

3-(4-Fluorophenyl)-2-(4-pyridyl)chromone derivatives were synthesized and evaluated as p38 MAP kinase inhibitors. Introduction of an amino group in the 2-position of the pyridyl moiety gave p38α inhibitors with IC(50) in the low nanomolar range (e.g., IC(50) = 17 nm). The inhibitors showed excellent selectivity profiles when tested on a panel of 62 kinases, as well as efficient inhibition of p38 signaling in human breast cancer cells.     

Non-traumatic coma in young children in Benin: are viral and bacterial infections gaining ground on cerebral malaria?

Background::While malaria morbidity and mortality have declined since 2000, viral central nervous system infections appear to be an important, underestimated ca...     

Empyema necessitans in the setting of pneumonia and parapneumonic effusion

Empyema necessitans is a rare complication of pleural space infections and occurs when the infected fluid dissects spontaneously into the chest wall from the pleural space. This process may result from bronchopleural extension of a peripheral lung infection. These cases result from inadequate treatment of an empyema and usually occur after a necrotizing pneumonia or pulmonary abscess. We present two cases of empyema thoracic necessitans.     

Biochemical markers predict morbidity and mortality after pancreaticoduodenectomy

BACKGROUND: The association between routinely ordered perioperative laboratory tests and postoperative morbidity and mortality after pancreaticoduodenectomy has not been well characterized. STUDY DESIGN: Routine perioperative laboratory data were analyzed for 2,894 patients who underwent a pancreaticoduodenectomy over a 25-year period. Laboratory values were initially categorized as being above or below the 75th percentile for the study population, and biochemical markers of morbidity and mortality were identified using multivariate logistic regression. The most significant biochemical markers were studied in greater detail by regrouping patients into low, intermediate, and high categories. RESULTS: Significant multivariate predictors of a postoperative complication included preoperative blood urea nitrogen> or =18 mg/dL, preoperative albumin< or =3.5 g/dL, and postoperative amylase> or =292 U/L. Significant multivariate predictors of a postoperative death included preoperative albumin< or =3.5 g/dL and postoperative aminotransferase> or =187 U/L. Postoperative hyperamylasemia was found to be associated, in particular, with an increased pancreatic fistula rate. Pancreatic fistula rates in the low (0 to 99 U/L), intermediate (100 to 399 U/L), and high (> or = 400 U/L) postoperative amylase groups were 4%, 14%, and 20%, respectively. Postoperative mortality rates in patients with low (0 to 499 U/L), intermediate (500 to 1,999 U/L), and high (> or = 2,000 U/L) postoperative aminotransferase groups were 0.9%, 5%, and 29%, respectively. Postoperative mortality rates in the high (> 3.5 g/dL), intermediate (2.6 to 3.5 g/dL), and low (0 to 2.5 g/dL) albumin groups were 0.9%, 3%, and 7%, respectively. CONCLUSIONS: Routine perioperative laboratory tests can help surgeons identify patients who are at increased risk for morbidity and mortality after pancreaticoduodenectomy.     

Development and validation of an HPLC method for the rapid and simultaneous determination of 6-mercaptopurine and four of its metabolites in plasma and red blood cells

An HPLC method has been developed and validated for the rapid determination of mercaptopurine and four of its metabolites; thioguanine, thiouric acid, thioxanthine and methylmercaptopurine in plasma and red blood cells. The method involves a simple treatment procedure based on deproteinisation by perchloric acid followed by acid hydrolysis and heating for 45 min at 100 °C. The developed method was linear over the concentration range studied with a correlation coefficient >0.994 for all compounds in both plasma and erythrocytes. The lower limits of quantification were 13, 14, 3, 2, 95 pmol/8 × 10⁸ RBCs and 2, 5, 2, 3, 20 ng/ml plasma for thioguanine, thiouric acid, mercaptopurine, thioxanthine and methylmercaptopurine, respectively. The method described is selective and sensitive enough to analyse the different metabolites in a single run under isocratic conditions. Furthermore, it has been shown to be applicable for monitoring these metabolites in paediatric patients due to the low volume requirement (200 μl of plasma or erythrocytes) and has been successfully applied for investigating population pharmacokinetics, pharmacogenetics and non-adherence to therapy in these patients.     

A case of AIDS associated cryptococcal meningitis with multiple cranial nerve neuropathies

Cryptococcal meningitis is a common opportunistic infection among patients with AIDS. Cranial nerve neuropathies are well-known complications that occur due to increased intracranial pressure and inflammation of cranial nerves in such patients but have not been previously reported to involve more than four cranial nerves simultaneously. Our patient had involvement of five cranial nerves resulting in the complete loss of vision and hearing as well palsies of the third, sixth and seventh cranial nerves. He was treated with multiple antifungal medications. Repeated high volume lumbar punctures and Ommaya reservoir were used to lower intracranial pressure. At the time of discharge the patient had complete recovery of the functions of third, sixth and seventh cranial nerves bilaterally and partial recovery of hearing and vision.