Cryptococcal meningitis in a patient with X-linked hyper-IgM1 syndrome

A case is reported of cryptococcal meningitis in a 27-y-old male suffering from X-linked hyper-IgM1 syndrome. This congenital disorder is characterized by multiple infections of the respiratory and gastrointestinal tracts, but also opportunistic infections commonly seen in patients with cell-mediated immunity. His clinical recovery was good but the need for life-long secondary chemoprophylaxis to prevent relapses is unknown.     

Mud bath dermatitis due to cinnamon oil

A case of long-lasting, extensive eczematous and bullous dermatitis affecting exposed areas (arms and legs), beginning within 24 hr after having a mud bath with cinnamon essential oil in a spa, in a 74-year-old woman, is reported. Patch tests with the GEIDC standard battery and the dental battery (including clove essence and eugenol), cinnamon essence and its components were carried out 5 years later. Fragrance mix, cinnamon essence, eugenol, cinnamic alcohol and cinnamic aldehyde yielded a positive result. To our knowledge, this is the first case of cinnamon dermatitis after a mud bath.     

Direct detection of angioinvasive pulmonary aspergillosis in immunosuppressed patients: preliminary results with high-resolution 16-MDCT angiography

OBJECTIVE: The aim of this study was to optimize detection of angioinvasive pulmonary aspergillosis by showing direct vessel involvement at a peripheral level with high-resolution MDCT angiography in patients with antibiotic-resistant fever of unknown origin under immunosuppression. Twelve CT angiographic examinations were prospectively performed in 10 patients with an optimized CT angiography protocol with 16-MDCT after IV administration of contrast agent using care bolus (Siemens Medical Solutions). Axial images and maximum intensity projections were evaluated for vascular occlusion by an experienced radiologist blinded to the clinical histories. Results were correlated with histology and clinical follow-up data including follow-up CT. Fourteen focal pulmonary lesions were detected by CT in eight patients. Eight of 14 lesions were confirmed by histology. In the remaining six lesions, diagnosis was made by clinical and CT follow-up. In nine of nine lesions in which angioinvasive infection was excluded, CT angiography showed patent vessels. In four of five lesions with histologically proven fungal angioinvasion, vascular occlusion was detected on CT angiography. CONCLUSION: High-resolution MDCT angiography has been shown to be a feasible technique to depict directly vessel occlusion in the setting of suspected fungal infections, especially for early diagnosis of angioinvasive pulmonary aspergillosis in immunosuppressed patients.     

Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24

OBJECTIVE: To characterize a complex chromosome rearrangement (CCR) previously detected by G-banding in peripheral blood lymphocytes, as 46,X,-2,-11,-22,-X,+mar 1+mar2+mar3+mar4 in a patient with primary amenorrhea. DESIGN: Case report. SETTING: University faculty of Medicine and hospital. PATIENT(S): A 36-year-old woman with primary amenorrhea. INTERVENTION(S): Fluorescence in situ hybridization (FISH). MAIN OUTCOME MEASURE(S): Use of commercially available M-FISH probe (24 colors simultaneously) and whole chromosome painting probes for chromosomes 2, 11, 22, and X to characterize the CCR. RESULT(S): The use of conventional and multiple FISH allowed the redefinition of the CCR, showing a cryptic insertion of chromosome 11 in marker 3 previously suspected by M-FISH. The combination of G-banding and FISH data revealed that four chromosomes and seven breakpoints, including 2q21, 2q31, 11q22.1, 11q22.3, 22q13.3, Xp11.21, and Xq24, were implicated in this CCR. CONCLUSION(S): This report confirms the importance of a combination of G-banding and FISH (M-FISH and conventional FISH) techniques to characterize the de novo CCR. These techniques also were useful in defining two possible critical chromosome regions, Xp11.21 and Xq24, in which genes of potential interest for a primary amenorrhea could be located.     

PDZ proteins and proximal ion transport

PURPOSE OF REVIEW: PDZ proteins are major structural components of protein assembly. This review covers the implications of these proteins in the regulation of transport systems expressed in renal proximal tubules. RECENT FINDINGS: In the last few years, many reports have highlighted the implication of PDZ proteins in two aspects of proximal tubule physiology, namely the generation and maintenance of epithelial polarity and the formation of regulatory complexes that provide spatial and molecular specificity to the intracellular signalling. SUMMARY: PDZ-mediated interactions are involved in a wide range of cellular functions, from cell division to cell polarity to intracellular signalling. Consistent with this functional spectrum, ablation of PDZ protein genes generates a wide panel of pathological phenotypes, some of which link directly to human syndromes. In proximal tubules, PDZ proteins are thought to play a major role in epithelial polarity and transport regulation.     

Molecular aspects in the regulation of renal inorganic phosphate reabsorption: the type IIa sodium/inorganic phosphate co-transporter as the key player

The type IIa sodium/inorganic phosphate co-transporter is the rate-limiting inorganic phosphate transport pathway in renal brush-border membranes, and is thus a key player in overall inorganic phosphate homeostasis. Its regulation is mostly associated with membrane retrieval/reinsertion (traffic) of the transport protein. This membrane traffic is controlled by specific 'motifs' at the level of the transporter protein and probably involves interacting proteins (e.g. for scaffolding, regulation or sorting). The intracellular signaling mechanisms (e.g. the involvement of kinases) and the involvement of the cytoskeleton are not yet understood. Hereditary alterations in renal inorganic phosphate handling can be associated with factors controlling the expression of the brush-border type IIa sodium/inorganic phosphate co-transporter.