1/8. Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis.Huntington's disease (HD) is a degenerative disorder of the central nervous system with autosomal dominant inheritance. genetic counseling has always been difficult in this disorder with anguish, depression and denial being very common in both the patient and family members. The discovery of the causal gene has led to precise diagnostic procedures allowing homozygotes for the disease to be identified. Contrary to what occurs in some other autosomal dominant diseases, the course of the disease is not more severe in the homozygote than in the heterozygote. The present authors describe a family comparing two affected siblings: one is heterozygotic and the other homozygous for the HD mutation. They confirm that the age and symptoms of onset did not differ significantly between the subjects; however, the disease seemed to have a more severe progression in the heterozygote than in the homozygote. The authors discuss the ethical dilemma derived from the genetic counseling of a homozygotic patient, given the fact that all his offspring will be affected. Letting the offspring know about their 100% probability of inheriting the disorder is equivalent to delivering a non-requested predictive test, while not informing them constitutes withholding crucial information from the individual.- - - - - - - - - - ranking = 1keywords = probability (Clic here for more details about this article) |
2/8. Frontotemporal mild cognitive impairment.mild cognitive impairment appears to be a heterogeneous clinical entity comprising patients in the initial phases of distinct neurological disorders. Since frontotemporal dementia (FTD) is a relatively common neurodegenerative disease with an insidious onset, it might be possible to detect the patients in the initial phases of the disorder, before being demented. In the present work we proposed a set of criteria to identify patients with mild cognitive impairment of the frontotemporal type (FT-MCI), applied these criteria retrospectively to a large patient database, and evaluated the progression of the patients. Seven subjects fulfilling the proposed criteria for frontotemporal MCI were identified. They had symptoms of apathy, disinhibition, irritability and aggressiveness, untidiness, difficulties in decision making, obsessions and lack of concern for the others, for 1.5 /- 0.8 years before the diagnosis of FT-MCI. brain CT or MRI scan displayed fronto-temporal atrophy in five. Neuropsychological examination revealed deficits in tests dependent upon the frontal lobe, namely attention, verbal, motor and graphomotor initiatives and conceptual thinking. The patients kept their professional and daily activities, and were not demented. It was possible to have the follow-up of all patients. All but one patient diagnosed FT-MCI developed dementia of the frontotemporal type within 1.8 /- 1.0 years. Application of the proposed criteria for FT-MCI, at least in this clinical neurological setting, can identify a group of patients with a high probability of further cognitive decline to dementia of the frontotemporal type.- - - - - - - - - - ranking = 1keywords = probability (Clic here for more details about this article) |
3/8. Progression of MRI abnormalities in herpes simplex encephalitis despite clinical improvement: natural history or disease progression?herpes simplex virus encephalitis (HSVE) is associated with a high mortality rate and a high probability of neurological sequelae. Good results are obtained when HSVE is promptly diagnosed and treated with acyclovir. We present a 71-year-old woman with clinically diagnosed HSVE, confirmed by PCR detection of HSV-1 dna in the cerebrospinal fluid. She was treated with acyclovir (30 mg/kg day) for two weeks. Clinical and neuropsychological assessments 6 months after admission were normal; however MRI at 2, 6 and 12 months showed progressive deterioration with extensive white matter and cortical damage. Imaging studies of a cohort of patients surviving PCR-confirmed HSVE are needed to determine whether this pattern is occasional or a frequent form of progression.- - - - - - - - - - ranking = 1keywords = probability (Clic here for more details about this article) |
4/8. Surgical treatment of solitary plasmocytoma of the spine: case series.The mean survival of patients with skeletal solitary plasmocytoma is 75% at 5-year follow-up. This highly osteolytic tumor may compromise spinal stability. radiotherapy is effective in local control of the disease, however, it is not effective in restoring spinal stability. Fracture risk and progressive vertebral collapse persist. For this reason, we must consider the need to establish the probability of progressive vertebral collapse, based on the degree of involvement of the vertebral body at the time of diagnosis. We used parameters described by Taneishi and Kaneda, as well as those of Heller and Boden to predict progressive vertebral collapse. Three cases are presented and their treatment is described.- - - - - - - - - - ranking = 1keywords = probability (Clic here for more details about this article) |
5/8. Suspected acute interstitial nephritis induced by colistin.We describe a 35-year-old male admitted to the intensive care unit (ICU) for acute exacerbation of chronic obstructive pulmonary disease (COPD). He developed ventilator-associated pneumonia caused by multidrug-resistant pseudomonas aeruginosa and was treated with imipenem and colistin without any renal toxicity. The patient was readmitted to the ICU for a 2nd and a 3rd exacerbation of COPD and was again treated with imipenem and colistin. In both episodes, he developed rapid worsening in renal function, which improved following colistin withdrawal. Use of the Naranjo ADR probability scale indicated a probable relationship between the renal failure and the colistin therapy. In addition, the time course of events suggested that colistin was the cause of acute interstitial nephritis in this patient. We conclude that our patient had a possible acute allergic reaction to colistin since the 1st introduction was not associated with any renal toxicity and renal failure was observed on the 1st day of the 2nd and the 3rd initiation of colistin therapy, respectively.- - - - - - - - - - ranking = 1keywords = probability (Clic here for more details about this article) |
6/8. Metastatic anaplastic carcinoma of the thyroid mimicking squamous cell carcinoma: report of a case of a challenging cytologic diagnosis.BACKGROUND: The probability of anaplastic transformation in a differentiated thyroid carcinoma (DTC) is <2%. Admixture of DTC and undifferentiated carcinoma can occasionally be found in thyroidectomy specimens, or the undifferentiated tumor may develop in metastatic foci months or years after removal of the primary tumor. CASE: Anaplastic transformation of a metastatic DTC was diagnosed at autopsy in a 71-year-old female. At the time of her total thyroidectomy for follicular carcinoma, she already had several lung nodules, which diminished in size upon 131I treatment. Five years later the patient developed a new, pleura-based lung mass. The mass extended along the paraspinal soft tissue and involved the kidney. Fine needle aspiration biopsy of the paraspinal mass resulted in a diagnosis of metastatic squamous cell carcinoma. Two months later the patient died. Histologic evaluation of the lung nodules and pleura-based mass revealed areas of follicular carcinoma intermixed with a various patterns of undifferentiated carcinoma. The paraspinal and kidney mass consisted entirely of anaplastic tumor, including areas of squamoid differentiation. CONCLUSION: In patients with a history of DTC who develop a rapidly growing mass elsewhere, a possibility of metastatic DTC with anaplastic transformation must be considered.- - - - - - - - - - ranking = 1keywords = probability (Clic here for more details about this article) |
7/8. Progression of rheumatoid arthritis following bone marrow transplantation. A case report with a 13-year followup.The progression of rheumatoid arthritis (RA) is documented in a patient receiving a sex-mismatched, allogeneic bone marrow transplant (BMT) for gold-induced marrow aplasia. dna typing confirmed a high probability of a full donor engraftment (complete chimerism). Although the RA was in complete remission 2 years post-BMT, clinical, laboratory, histologic, and radiologic evidence of the recurrence of synovitis from 3-13 years post-BMT is presented. Implications of these observations for theories of the pathogenesis of RA and the future of immunotherapies are discussed.- - - - - - - - - - ranking = 1keywords = probability (Clic here for more details about this article) |
8/8. Aggressive angiomyxoma of the vulva: expression of estroprogestinic receptors and follow-up.PURPOSE OF INVESTIGATION: To analyze aggressive angiomyxoma hormone-dependency. METHOD: Estroprogestinic receptor expression was studied by immunohistochemistry in 5 patients with aggressive angiomyxoma of the vulva. RESULTS: The immunohistochemical results confirm the positivity of angiomyxoma for estrogen and progesterone receptors. CONCLUSIONS: We hypothesized that the concomitant factor favoring neoplastic growth is a different genetic substrate specific in the female sex. Analysis of the data regarding the distribution of angiomyxomas in different age groups has strengthened this hypothesis suggesting that this tumor is correlated with complete maturity, in all probability hormonal. However it cannot be excluded that the tumor begins to develop at an early age, but since it has a slow growth rate, the phenomenon is delayed and is related to hormonal stimulation.- - - - - - - - - - ranking = 1keywords = probability (Clic here for more details about this article) |