Detection of a mesenchymal tumor responsible for hypophosphatemic osteomalacia using FDG-PET.

We report a case of oncogenic osteomalacia (OO) in a 71-year-old man. The tumor, which was localized in the left lower mandible, was not found by CT, MRI, or 111-indium octreotide scintigraphy but was easily detected by FDG-PET. The use of this technique in OO has never been reported.

Systemic mastocytosis: predictable factors of poor prognosis present at the onset of the disease.

Systemic mastocytosis (SM) refers to a group of heterogeneous diseases that can be divided into indolent SM, for which prognosis is favorable, and malignant SM, which has a poor prognosis. While the diagnosis of SM is often a challenge since clinical and biological abnormalities are not specific, prognosis is even more difficult to predict. Thus, we aimed to highlight predictable factors in a cohort of 28 cases of SM. Among the 13 women and 15 men studied were 7 patients who had an aggressive form of SM that ultimately led to death in 3 of them. We found common characteristics among these seven patients. First, they were older when the first symptoms appeared and when the diagnosis was confirmed. Second, ascitis, lymphadenopathy, anemia, and thrombocytopenia were significantly more frequent, while cutaneous lesions and flush were less frequent. Moreover, general symptoms, gastrointestinal disorders, neutropenia, and coagulation abnormalities also seemed to characterize this group of patients. Understanding the factors that predict SM is essential in order to provide patients with the malignant form of the disease with specific treatments.

A transthyretin mutation (Tyr78Phe) associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis.

BACKGROUND: More than 80 transthyretin (TTR) mutations have been described, most associated with amyloidosis. Peripheral neuropathy is the most common clinical presentation in TTR amyloidosis although the carpal tunnel syndrome (CTS) may be the first symptom and skin can be involved, as transthyretin amyloidosis is a systemic disease. CASE REPORT: The 78 year-old proband, belonging to a French family of Italian origin, presented with a 5 year history of peripheral neuropathy in the lower extremities. However, 15 years earlier he had had surgery for bilateral CTS. Amyloidosis was diagnosed on salivary gland and skin biopsies. Immunohistochemistry on skin biopsy was positive using anti-TTR. The proband has 10 siblings, 5 have CTS. METHODS: SSCP and direct sequencing of exons 2, 3, and 4 of the TTR gene were done on DNA from the proband and his brother who had had CTS. To confirm the mutation a PCR-IMRA was done. RESULTS: SSCP analysis of TTR exons 2, 3, and 4 did not suggest a mutation. Sequence analysis of TTR exon 3 revealed heterozygosity in both subjects for a single basepair transversion from A to T in codon 78 (TAC-->TTC) indicating a tyrosine to phenylalanine change. The mutation was confirmed by PCR-IMRA. CONCLUSION: This TTR mutation (Tyr78Phe) is associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis. It is also associated with late onset of the disease.

Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family.

A French family in which three individuals had familial amyloid polyneuropathy (FAP) was investigated. The proband presented cardiomyopathy with atrial arrhythmia and then developed axonal polyneuropathy, carpal tunnel syndrome, and sclerodactyly. Nucleotide sequencing of exons 2, 3 and 4 of the transthyretin (TTR) gene revealed heterozygosity for a single base change in the second position of codon 47. This G to C transversion predicts replacement of a glycine by an alanine at position 47 in the mature protein. This mutation (G47A) was previously identified in two different families of Italian origin both of which had FAP and cardiomyopathy. Here we report the first identification of this mutation in a non-Italian family.

Fatigue in patients with rheumatic diseases.

Fatigue is a prominent symptom in many rheumatic diseases. Numerous factors contribute to cause fatigue, which can be a source of frustration for the patients and physicians, as the treatment often fails to produce the desired improvement. Diagnostic guidelines direct insufficient attention to the various semiological patterns of fatigue seen in rheumatic diseases. This update describes three main patterns of fatigue, depending on whether the source is physical or mental: muscle weakness in patients with neuromuscular disease; asthenia related to organic disease with excessive energy expenditure, deficient energy production (e.g., endocrine disorders), or inadequate recovery; and weariness due to the impact of stress and depression on quality of life. The prevalence of each pattern in various rheumatic diseases is discussed. This update underlines the practical benefits provided by a detailed semiological analysis of fatigue in patients with rheumatic disease and emphasizes the marked predominance of weariness due to stress and depression, on which the personality of the patient and inadequacy of social support systems may exert a major influence. Serotonin reuptake inhibitors (SSRIs) may be valuable in patients with fatigue not only because they improve the mental status, but also via their recently demonstrated anti-inflammatory effects.

Plasma VEGF determination in disseminated lymphangiomatosis-Gorham-Stout syndrome: a marker of activity? A case report with a 5-year follow-up.

Disseminated lymphangiomatosis and Gorham-Stout disease are being considered as two forms of a single rare disease, characterized by a proliferation of lymphatic vessels, triggered by lymphangiogenic factors. There is no biological marker of the disease. Plasma VEGF might be a useful tool since the recent demonstration of its pivotal role in the mechanism of this disease. A 45-year-old woman with a history of disseminated lymphangiomatosis involving mediastinum, retroperitoneum, spleen and systemic bones for 29 years was treated with Interferon alpha 2b at a dosage of 7.5 to 15 million IU 3 times a week for 5 years. Plasma VEGF quantification was performed twice a year and showed a marked increase before therapy, which normalize after 18 months of treatment with Interferon. The normalization of plasma VEGF is correlated with the clinical improvement objectively appraised by a marked reduction of spleen lesions and significant improvement of the other damages in soft tissues and bones. Thus, we conclude that plasma VEGF determination should be considered for diagnosis and follow-up of the course and the treatment of disseminated lymphangiomatosis-Gorham-Stout disease.

Observational study of potential risk factors of medication administration errors.

OBJECTIVE: Medication administration errors (MAEs) are the second most frequent type of medication errors, as has been shown in different studies in the literature. The aims of this observational study were to assess the rate and the potential clinical significance of MAEs and to determine the associated risk factors. DESIGN: In two departments, Geriatric Unit (GU) and Cardiovascular-Thoracic Surgery Unit (CTSU) of Besançon University Hospital (France), MAEs were identified using the undisguised observation technique and classified according to the definitions of the American Society of Health-System Pharmacists. Injectable administration, lack of nurses's standardized protocol for the preparation and administration of drugs, incomplete or illegible prescription and nurse's workload were analysed as potential risk factors of MAEs in multivariate logistic regression analysis. RESULTS: During a period of 20 days, opportunities for error concerning 56 patients and 78 MAEs (58 in CTSU and 26 in GU) were observed. The medication administration error rate was 14.9%. Dose errors were the most frequent (41%) errors, followed by wrong time (26%) and wrong rate errors (1996). No potential fatal errors were observed, 8 (10%) were estimated as potentially life-threatening, 20 (26%) potentially significant and 50 (64%) potentially minor. Nurse workload and incomplete or illegible prescriptions were two independent risk factors of MAEs. CONCLUSION: According to these data, the quality of the medication administration process needs to be optimized in hospitals in order to minimize the incidence of iatrogenic preventable diseases.

Reactive hemophagocytic syndrome in adult systemic disease: report of twenty-six cases and literature review.

OBJECTIVE: To analyze specific clinical findings, underlying disorders, treatments, outcomes, and prognostic factors for reactive hemophagocytic syndrome (RHS) in systemic disease. METHODS: Data were collected using standardized forms as part of a French national survey. Adult cases without an underlying malignancy, diagnosed on bone marrow or lymph node biopsy, were included. RESULTS: Twenty-six cases (7 men, 19 women, mean age 47.4 +/- 17.7 years) were studied. Systemic diseases included systemic lupus erythematosus (n = 14), rheumatoid arthritis (n = 2), adult onset systemic Still's disease (n = 4), polyarteritis nodosa (n = 2), mixed connective tissue disease (n = 1), pulmonary sarcoidosis (n = 1), systemic sclerosis (n = 1), and Sjögren's syndrome (n = 1). RHS occurred in 2 distinct clinical settings in the course of systemic disease. RHS was associated with an active infection in 15 patients (bacterial infections, 10 cases; viral, 3 cases; tuberculosis, 1 case; and aspergillosis, 1 case) and with the onset of a systemic disease alone in 9 cases. Isolated RHS occurred in 2 cases. The overall mortality rate was 38.5%. Two factors were associated with mortality: corticosteroid treatment at the time of RHS diagnosis, and thrombocytopenia (odds ratio = 28, 95% confidence interval = 13.3-238.9). CONCLUSIONS: When RHS occurs in the course of an active systemic disease (situation only reported in cases of systemic lupus or adult Still's disease), immunosuppressive therapy should be used. In contrast, when RHS is present concomitantly with an active infection, immunosuppressive therapy needs to be lowered and antibiotic therapy should be instituted.