Urea cycle disorders:A case report of a successful treatment with liver transplant and a literature review

The urea cycle is the final pathway for nitrogen metabolism. Urea cycle disorders(UCDs) include a variety of genetic defects, which lead to inefficient urea synthesis. Elevated blood ammonium level is usually dominant in the clinical pattern and the primary manifestations affect the central nervous system. Herein, we report the case of a 17-year-old girl who was diagnosed with UCD at the age of 3. Despite a controlled diet, she was hospitalized several times for acute attacks with recurrent life risk. She came to our attention for a hyperammonemic episode. We proposed an orthotopic liver transplant(OLT) as a treatment; the patient and her family were in complete agreement. On February 28, 2007, she successfully received a transplant. Following the surgery, she has remained well, and she is currently leading a normal life. Usually for UCDs diet plays the primary therapeutic role, while OLT is often considered as a last resort. Our case report and the recent literature data on the quality of life and prognosis of traditionally treated patients vs OLT patients, support OLT as a primary intervention to prevent life-threatening acute episodes and chronic mental impairment.

Quality and origin of mountain food products: the new European label as a strategy for sustainable development

Mountain farming provides high-quality food products due to the peculiar characteristics of the raw materials combined with traditional processing conditions. However, these products and their intrinsic characteristics are not clearly recognized by consumers on the market. Nowadays, Protected Designation of Origin(PDO), Protected Geographical Indication(PGI) and Traditional Specialities Guaranteed(TSG) certifications include products originating in mountain areas, even if a large part of mountain foodstuff is not protected by these certifications and foods not made in mountain areas are often labeled as ―mountain food products‖. For this reason, the European Union has set a specific Regulation in 2012 to recognize and protect mountain food and to make the consumers safer about the origin information. The objective of this paper is twofold: firstly, it presents the recent aspects related to European legislation of mountain food product; secondly, it aims at reviewing the main features of nutritional quality and technology of dairy and meat products, as the most widespread mountain food products, and the main protocols used to evaluate the authenticity of these food products. The promotion of mountain food product through a specific label and the use of tracing methods, which are able to verify the authenticity of the origin of these products, may play a pivotal role in increasing the consumer‘s loyalty towards these products and could be a way to boost a sustainable development of these economically marginal rural areas. However, the analytical protocols developed so far(stable isotopes, macro and microelements, radionuclides, spectroscopic, molecular techniques, volatile substances profile, terpenes) are in many cases still at the experimental level due to the extreme variability of the mountain origin of the products to be tested.

Cryoglobulinemia in elderly patients with HCV-related chronic hepatitis

Hepatitis C virus(HCV) infection affects about 3% of the world's population and often leads to chronic liver disease.In some industrialized countries,HCV prevalence increases with age,but the optimal management of older patients has not been accurately defined.HCV infection can also lead to lymphoproliferative disorders,the most common being mixed cryoglobulinemia(MC),and also for this condition that frequently affects elderly patients,the optimal therapeutic strategy is still debated.We report the case of a 77-year-old Caucasian woman with HCV-related chronic hepatitis and cutaneous manifestations consisting of urticaria and pruritus related to MC resistant to antihistamines.The patient underwent a treatment with interferon and ribavirin.Such a treatment led to early biochemical and virological response associated with the resolution of cryoglobulinemia and cutaneous symptoms.After the end of treatment,HCV replication relapsed,but cryoglobulinemia and cutaneous symptoms did not recur.In the absence of definite treatment guidelines in this particular context,our experience suggests that the presence of symptoms related to HCV-infection that deeply affect patient quality of life warrants antiviral therapy even beyond the age limits that currently exclude patients from treatment.