Fahr's syndrome: diagnosis issues in patients with unknown family history of disease.

Fahr's disease (FD) is a rare clinical neurodegenerative entity, occurring in fourth or fifth decade or elderly patients, consisting in symmetric polytopic calcifications, in one ore more of the following areas: basal ganglia, cerebral white matter, thalami, internal capsulae, cerebellum, which can lead to pyramidal, extrapyramidal, cerebellar symptoms, alteration of sensitive perception and psychiatric manifestations. The purpose of this paper is to present the FD-diagnosis with unknown family history of disease, based on calcification pattern, symptomatology and lab tests. A three years retrospective study was effectuated on 1942 patients, aged between 20 and 96-year-old, presenting neurological and psychiatric symptoms, which required differential diagnosis with FD. All the patients were evaluated by CT-scans and levels of serum calcium and alkaline phosphatase were measured in cases with cerebral calcification, in order to exclude abnormal calcium-phosphorus metabolism. Cerebral and cerebellar calcification were found in 176 cases, seven cases presenting a calcification pattern suggestive for FD and in six from the seven cases a positive diagnosis of FD was established.

Efficacy of methotrexate as anti-inflammatory and anti-proliferative drug in dermatology: Three case reports.

Methotrexate (MTX) is a folic acid analog with anti-proliferative (anti-neoplastic, cytotoxic), immunosuppressive and anti-inflammatory properties, which has been used in the treatment of various cutaneous disorders, such as psoriasis, keratoacanthoma, pityriasis rubra pilaris, atopic dermatitis, mycosis fungoides, bullous skin diseases, systemic sclerosis, morphea, lupus erythematosus, dermatomyositis and crusted scabies. Inhibition of cell proliferation is explained through its role in blocking DNA/RNA synthesis, by inhibiting dihydrofolate reductase, necessary for the production of pyrimidine and purine nucleotides. An anticancer effect can be related to α-oxoaldehyde metabolism (MTX increases methylglyoxal levels). Its anti-inflammatory property is based on the inhibition of 5-aminoimidazole-4-carboxamide ribonucleotide transformylase, thus increasing intracellular and extracellular adenosine, a purine nucleoside with anti-inflammatory effect. This drug can limit inflammation by scavenging free radicals and decreasing malondialdehyde-acetaldehyde protein-adduct production. Moreover, the anti-proliferative and anti-inflammatory effects can also be related to inhibition of the DNA methylation pathway, thus inhibiting methionine formation. The aim of the present study was to report various dermatological cases from our daily practice that demonstrate the efficacy of MTX in the treatment of cutaneous diseases, highlighting different mechanisms of action: its anti-inflammatory effect in psoriasis and its anti-proliferative, and anti-neoplastic effect in well-differentiated squamous cell carcinoma or in keratoacanthoma. Moreover, different administration pathways and doses are addressed. Assessment of the treatment plan, clinical improvement of cutaneous lesions, biologic evaluation, final aesthetic result, quality of life, as well as potential adverse effects and drug tolerance related to each case mentioned.

Body composition in HIV-infected patients receiving highly active antiretroviral therapy.

BACKGROUND: The development of combination antiretroviral therapies (cART) represents a significant advance in the treatment of (human immunodeficiency virus) HIV infection. However, several studies report that a large percentage of individuals with HIV, particularly those receiving cART, present body composition differences compared with the general population. The aim of this study was to explore body composition differences by dual-energy X-ray absorptiometry (DEXA), among HIV-positive patients receiving cART, in comparison to healthy controls. METHODS: The cross-sectional study included 60 HIV-infected patients (all under 50 years old). We analyzed the association of antiretroviral medication use and different HIV-related factors, to the body composition parameters. RESULTS: Our cohort had significantly lower fat mass and lower bone mass compared to non HIV-infected persons. Median time since HIV infection diagnosis was 5 years (interquartile range, [IQR], 2-10.25) and viral suppression was achieved in 49 (81.66%) patients. Treatment with protease inhibitors (PIs) was strongly correlated with low fat mass, reduced lean mass and loss of bone mineral density. Nucleoside reverse transcriptase inhibitors (NRTIs)-containing treatment was associated with decrease of lean tissue mass (LM). The prevalence of osteopenia was 41.67% at the lumbar spine (L1-L4) and 36.7% at the hip. We found osteoporosis in 10% of the patients at the lumbar spine. Reduced bone mass was associated, in the patient group, with the duration of PIs use and with smoking (in the males group). CONCLUSION: In our research, HIV-infected individuals compared to healthy controls had body composition differences, including fat mass atrophy and reduced bone mineral content.

Minimal hepatic encephalopathy diagnosis by magnetic resonance spectroscopy. A case report.

Minimal Hepatic Encephalopathy (MHE) is a potentially reversible spectrum of neuro-psychiatric alterations in patients with acute or chronic liver disease, in the presence of a normal neurological examination. Studies demonstrated that early diagnosis and treatment of this complication increases the quality of life of the patients and leads to an overall better liver disease management. Currently, a practical method of diagnosing MHE is through psychological tests, with modest accuracy. A highly sensible and specific non-invasive method of diagnosis is Magnetic Resonance Spectroscopy (MRS) which identifies the key neuro-biochemical profile of hepatic encephalopathy. In selected cases of equivocal psychological test results, MRS is justified and adequate according to the authors' opinion.