Diagnostic traps in porphyria: case report and literature review

Porphyrias are metabolic disorders of heme biosynthesis, which encompass a broad range of symptoms and signs, neurologic, cutaneous or mixed. Because of lack of specificity and polymorphous clinical picture, porphyrias can mimic either neuropsychiatric, dermatologic, or gastrointestinal diseases. We present the case of a 58 years old man to whom clinical presentation suspicious of Addison's disease (melanoderma, fatigue, weight loss, intermittent abdominal pain) was the disguise of porphyria cutanea tarda. A general background of porphyrias and differential diagnosis with other forms of hepatic porphyria, as well as other causes of hyperpigmentation, are given. The clinician should be aware of the protean manifestations of porphyrias and include them in clinical judgment in various situations.     

Assessment of aorto-iliac disease with magnetic resonance angiography using arterial phase 3-D gradient-echo and interstitial phase 2-D fat-suppressed spoiled gradient-echo sequences

PURPOSE: To evaluate magnetic resonance angiography (MRA) of the pelvis for the examination of the aorto-iliac system using arterial phase 3-D gradient echo and interstitial phase 2-D fat-suppressed spoiled gradient-echo (SGE), with comparison to surgery and angiography. MATERIALS AND METHODS: Ninety MR angiograms performed on 79 consecutive patients were analyzed, retrospectively, for the presence of narrowing, aneurysm, and dissection. Comparisons were made with angiography and surgery in 50 examinations, and a weighted kappa statistic test was applied to assess agreement. MR examinations were performed at 1.5T 3-D fast imaging in steady state precession (FISP) acquired immediately, and fat-suppressed SGE in the interstitial phase following gadolinium administration. RESULTS: MRA had overall sensitivities of 100% at aortic segments, 100% at common iliac, 93.8% at external, and 95.7% at internal iliac, and specificities of 100% at aortic segments, 89.7% at common iliac, 95.2% at external iliac, and 88.7% at internal iliac in detection of vascular disease. The agreement of MRA with the angiography and surgery yielded a weighted kappa statistic of 0.97 at the aortic, 0.94 at the common, 0.85 at the external, and 0.82 at the internal iliac segments. CONCLUSION: This study demonstrates an excellent performance of MRA in the evaluation of aorto-iliac arterial system and almost perfect agreement with angiography and surgery at all vascular levels.     

Epilepsy in different types of cerebral palsy

Epilepsy (E) is common in all types of cerebral palsy (CP) and in some varieties it is the rule. The aim of this study is to evaluate the nature, course and prognosis of seizures in patients with E and CP. Clinical observations were performed on a group of 109 patients, from 2.5 to 17 years of age, 2/3 associated mental retardation. The results proved that all types of seizures can be observed at the patients with CP and the epileptic attacks can be controlled in most cases with polytherapy.     

Diagnostic importance of angiographic visualization of distal vessel in elucidating abrupt vessel closure

Acute vessel closure complicates 0.5 9.3% of percutaneous coronary interventional procedures. This case series demonstrates the potential value of distal vessel angiographic visualization during abrupt vessel closure, which allows rapid determination of the underlying mechanism and the subsequent appropriate therapy.     

Tick-borne pathogens in tick species infesting humans in Sibiu County,central Romania

Parasitology Research - Romania has a highly diverse tick fauna. Consequently, a high diversity of tick-transmitted pathogens might be a potential threat to humans. However, only a limited number...     

Suspected pancreatic cancer: evaluation by dynamic gadolinium-enhanced 3D gradient-echo MRI

OBJECTIVE: The objective of our study was to determine the sensitivity and specificity of gadolinium-enhanced 3D gradient-echo (GRE) MR images in the detection of pancreatic cancer. CONCLUSION: Dynamic gadolinium-enhanced 3D GRE images are both sensitive and specific in the detection of pancreatic cancer. Our study shows that the identification of pancreatic cancer using these images can be performed with a high degree of confidence and accuracy, making them very useful in the detection of pancreatic cancer.     

Deletion of two genes from the genome of fission yeast Schizosaccharomyces pombe. Genetic manipulation and phenotype study

The aim of this study was to delete two genes from the genome of the fission yeast S. pombe in order to search for their functions in the cell. These genes are SPAC869.02c (MRI) and SPBC21C3.19 (MR2) and previous studies reported their significant induction after gamma irradiation. We carried out the deletions of the two genes and we replaced them with the selection marker ura4. Among the phenotype characteristics we tested the viability, the sexual behaviour and the radiosensitivity to ultraviolet and gamma irradiation. Our results indicate that MR1-deleted strain is sensitive to both UV and gamma irradiation, while the survival of the irradiated MR2-deleted strain doesn't appear to be influenced by the deletion. This suggests an involvement of MR1 gene in the adaptive response triggered by these types of genotoxic aggression. The comparison of MR1-d and MR2-d with the double deleted strains containing the deletion of MR1 or MR2 combined with the deletion of sty1 or rad3 genes led to a surprising result: the double mutants MR1-d sty1-d and MR1-d rad3-d were more resistant to both UV and gamma irradiation than the simple deleted strains sty1-d and rad3-d, respectively. This suggests a possible contribution of MR1 gene to the lethal process taking place in irradiated cells.     

Superficial low-grade fibromyxoid sarcoma (Evans tumor): a clinicopathologic analysis of 19 cases with a unique observation in the pediatric population

Low-grade fibromyxoid sarcoma (LGFMS), usually a deeply situated mass in adults, is uncommon in superficial soft tissue and in children. Nineteen superficial LGFMS from our files were studied for clinicopathologic features, the latter including tumor size, growth pattern, cellularity, collagen rosettes, vascularity, nuclear atypia, mitotic rate, necrosis, and immunophenotype. The patients included 12 males and 7 females who ranged in age from 2 to 70 years (mean, 29 years). There were 7 children. Tumor locations included the lower extremity (8), buttock (3), trunk (3), vulva/inguinal region (2), upper extremity (2), and unspecified subcutis (1). Clinical and histologic submitting diagnoses were mainly benign except for 3 cases, submitted as low-grade sarcoma, with only one as superficial LGFMS. The mean tumor size was 4.2 cm (range, 1.6-18 cm). Of 15 with evaluable resections, 5 had focal ink on tumor and 2 of these had known negative wider reexcisions. The tumors were relatively well circumscribed with low to moderate cellularity. The tumors alternated from myxoid zones with prominent curvilinear vasculature to collagenous fascicular zones. Collagen rosettes with peripheral round epithelioid cells and focal ischemic necrosis were present in 6 cases each. Mitotic rate was low (mean 1.6/50 HPF). Tumor cells were positive for vimentin and some were focally positive for actins, CD68, and EMA. CD34, keratins, and S-100 protein were negative. Follow-up (mean, 44 months; range, 10-84 months) on 16 patients demonstrated 14 with no evidence for disease, 2 with local recurrences at 5 and 16 months, but no metastases. Superficial LGFMS is more common than previously recognized and may affect children at a higher rate (7 of 19, 37%) than that for deep LGFMS. The prognosis is good and appears to be better than that for deep LGFMS.