Pregnancy in women with Alport syndrome

Background

Little is known about pregnancy in women with Alport syndrome (AS), as only four cases have been reported in the literature. We herein describe the course of pregnancy in two sisters with overt forms of AS.

Cases

Both women were diagnosed as having autosomal recessive AS. Before pregnancy, their renal function and their blood pressure were normal, and proteinuria values were below 2 g/24 h. Both patients faced a progressive and remarkable increase in proteinuria during pregnancy, with subsequent hypoproteinemia. The clinical condition worsened, particularly in the first case, who was managed with some success with a combination of diuretics. She delivered at 32 weeks of pregnancy. The second patient was less challenging and she delivered at 36 weeks. Proteinuria returned to pre-pregnancy levels in both cases, after delivery.

Conclusion

Management of pregnant women with overt AS is challenging and worsening of renal disease has to be expected. The use of diuretic therapy may be of benefit.     

Superficial intraventricular surface siderosis brain

Superficial siderosis of the central nervous system is a chronic condition characterized by hemosiderin deposition in the brain and spinal cord. It''s diagnosed by brain MRI. It can be caused by low-grade extravasation of blood into the subarachnoid space of the brain. There are 2 types of superficial siderosis cortical and infratentorial. Although asymptomatic in many cases; Cerebellar-predominant siderosis, a subtype of infratentorial, can affect hearing, gait, and even muscles. In this report, we present a case of a 51-year old female with complaints of hearing loss, unsteadiness in his lower limb, and spastic paresis. During MRI neuroimaging, we noticed findings of hypointensity areas within the brainstem and cerebellum, probably due to hemosiderin deposition. Based on the MRI findings, the patient was diagnosed with superficial siderosis. The patient was started on deferiprone and followed for the consecutive 18 months. Moderate improvement of the hearing loss and ataxia was noted while no change in muscle force. However, the repetitive MRI did not reveal any changes compared to the previous one.     

A systematic review of physical and rehabilitation medicine topics as developed by the Cochrane Collaboration

The aim of this paper is to give an overview of the Cochrane Collaboration, its development over the years, and its usefulness for physical and rehabilitation medicine specialists. After introducing the Cochrane Collaboration, we systematically analyzed all titles of the reviews in each of the 50 review groups. For 'Rehabilitation,' we included not only exercise and physical therapy, but also all of the educational and pharmacological interventions aimed at supporting rehabilitation. The search was performed using Issue 2, 2007 of the Cochrane Library. We retrieved 138 completed reviews that dealt with rehabilitation interventions performed by 20 review groups. No umbrella reviews could be found at present. The most prolific groups in the rehabilitation field were: musculoskeletal (28 reviews), stroke (20), back (18), and the movement disorder group (13). The most discussed intervention was exercise (37 reviews), dealing with physical medicine (20) and pharmacological intervention (11). Six other reviews dealt with multidisciplinary rehabilitation. Low back pain treatment and stroke were the most investigated topics. The Cochrane Collaboration serves today as a main step in increasing an evidence-based approach to medicine and rehabilitation. Europa Medicophysica is continuously increasing its importance and presence in the world of physical and rehabilitation medicine, and part of its mission is to increase and strengthen an evidence-based approach to this field. We will continue to look at the contents of the Cochrane database and regularly report on its updates concerning topics of interest for physical and rehabilitation medicine.     

Urinary asbestos fibers and inorganic particles in past asbestos workers

To assess the validity of the procedure as a test of asbestos exposure, we compared urinary asbestos fibers with occupational and environmental exposure data in a random sample of 48 subjects with high past asbestos exposure. Occupational and environmental exposure was estimated on questionnaire, pleural plaques were diagnosed with computed tomography, and inorganic fibers and particles were identified by scanning electron microscope with an energy-dispersive spectrometry. Few urinary asbestos fibers (in 15% of workers and 17% of cases with pleural plaques) and high amount of urinary silicate (particularly nonfibrous particles) were detected. Asbestos undergoes dissolution in lung tissues, but the secondary minerals are largely unknown. These materials, possibly nonfibrous silicates or metals, could be excreted with urine. Therefore, another study including a control group is warranted to discriminate the occupational origin of minerals in the urine.     

Protein interactome reveals converging molecular pathways among autism disorders

To uncover shared pathogenic mechanisms among the highly heterogeneous autism spectrum disorders (ASDs), we developed a protein interaction network that identified hundreds of new interactions among proteins encoded by ASD-associated genes. We discovered unexpectedly high connectivity between SHANK and TSC1, previously implicated in syndromic autism, suggesting that common molecular pathways underlie autistic phenotypes in distinct syndromes. ASD patients were more likely to harbor copy number variations that encompass network genes than were control subjects. We also identified, in patients with idiopathic ASD, three de novo lesions (deletions in 16q23.3 and 15q22 and one duplication in Xq28) that involve three network genes (NECAB2, PKM2, and FLNA). The protein interaction network thus provides a framework for identifying causes of idiopathic autism and for understanding molecular pathways that underpin both syndromic and idiopathic ASDs.     

The SPoRT concept of bracing for idiopathic scoliosis

The SPoRT (acronym: Symmetrical, Patient-oriented, Rigid, Three-dimensional, active) concept of bracing is a new way to build braces based on our 20 years of experience and the biomechanical principles of scoliosis correction, inclusive of the Sibilla and Sforzesco braces. The concept always requires a custom brace, which is made according to the patient's individual requirements. New technologies such as CAD-CAM can be applied, and often for better results, without the customary use of prebuilt forms whose measurements are stored in databases. Once the initial draft brace is completed, a final test must be made on the patient to modify and adapt it, depending on his or her real interaction between the body and the brace. The results that are today available on the SPoRT concept relate to the Sforzesco brace and are necessarily short-term, because the first treated patients are now reaching the fourth-year follow-up examination and haven't yet completed their treatments. On the basis of the initial evaluations, we can state that the Sforzesco brace is more effective than the Lyon brace after 6 months of treatment and that the Sforzesco brace is equally effective as the Risser Plast brace.     

Nutrition and aberrant DNA methylation patterns in atherosclerosis: more than just hyperhomocysteinemia?

Methylation is a reversible modification of DNA participating in epigenetic regulation of gene expression. It is now clear that atherosclerosis is associated with aberrant DNA methylation patterns in the vascular tissue and peripheral blood cells, but the origin of this anomaly is poorly understood. Based on evidence that global DNA hypomethylation coexists with hyperhomocysteinemia in advanced human atherosclerosis, it is widely assumed that altered DNA methylation patterns in atherosclerosis are mainly secondary to a decrease in factors essential for the synthesis of S-adenosyl methionine (SAM, the main methyl group donor in DNA methylation reactions), such as folate and vitamin B-12, or to homocysteine-induced blocking of SAM biosynthesis. Nonetheless, recent work expanded this view by showing that both local DNA hyper- and hypomethylation occur in early atherosclerosis in normohomocysteinemic mice and that atherogenic lipoprotein profiles promote DNA hypermethylation in cultured human macrophages. These findings suggest that during early atherosclerosis, nutritional factors affect DNA methylation patterns by mechanisms that are likely to be independent of vitamin or homocysteine levels. These data have the potential to assist in the identification of preventive or therapeutic avenues for cardiovascular disease.