Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family

We investigated the presence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family with recurrent fever and systemic reactive (AA) amyloidosis. A missense mutation in exon 3 of the TNFRSF1A gene, resulting in an amino acid substitution Phe60Leu (F60L) was found in the proband and his father. These are the first confirmed TRAPS cases in the Turkish population. This family highlights the importance of onsidering all the causes of inherited fevers and performing thorough clinical and genetic investigations to secure a diagnosis, even in populations in which familial Mediterranean fever (FMF) is highly prevalent.     

Vitamin D deficiency and reduced bone mineral density in multiple sclerosis: effect of ambulatory status and functional capacity

Multiple sclerosis (MS) is a chronic disease and a major cause of disability in young adults. The aims of this study were to assess bone mass in patients with MS in comparison to healthy age- and sex-matched controls, and to evaluate factors influencing bone mineral density (BMD), and the relationship of the pain threshold at peripheral and axial sites with BMD in MS. Thirty-one patients with MS and 30 matched healthy controls participated in the study. The Kurtzke expanded disability status scale (EDSS) and the functional independence measure (FIM) were used to scale disability, mobility, and functional status. Serum 25(OH) vitamin D levels were measured. BMD was measured using dual X-ray absorptiometry (DXA). MS patients had significantly lower BMD at the lumbar spine (L2-L4) and femur trochanter compared to the matched controls. BMD of the lumbar spine was nearly 1 SD lower in MS patients compared with the healthy reference population (Z scores). MS patients had significantly lower vitamin D levels (17.3 ng/ml vs 43.1 ng/ml; P < 0.001) compared to controls, and 19 patients (61%) had a serum level of vitamin D that was less than 20 ng/ml. EDSS scores in the patients were inversely correlated with proximal femur BMD but not with spinal BMD. There was a negative correlation with the cumulative steroid dose and BMD only for femur trochanter BMD. Total myalgia scores for paravertebral muscles correlated significantly with spinal BMD. In conclusion, BMD is significantly lower in MS patients than in healthy controls, vitamin D deficiency is prevalent in MS, and ambulatory status is a determinative factor for osteoporosis in MS. Patients should be encouraged to have adequate sunlight exposure and to increase their mobility. Specific strengthening exercises for hip and back muscles in MS patients would have a substantial impact on bone density, osteoporosis, fracture risk, and mobility.     

Subjective Quality of Life of Community Living Sudanese Psychiatric Patients: Comparison with Family Caregivers’ Impressions and Control Group

Background: Researchers have paid scant attention to comparative studies of quality of life (QOL) issues among psychiatric diagnostic groups; the studies of patient – caregiver concordance ratings had small sample sizes; and the reports are rare from the African and Arab worlds. Objectives: to assess the subjective QOL of stable Sudanese outpatients, using the WHOQOL – Bref, compared with a general population sample; examine the caregiver–patient concordance; and assess the variables that impact on domains of QOL. Method: The responses of outpatients with schizophrenia (99), major affective disorders (120) and neuroses (81) (mean age 33.8) were compared with 211 controls and the impression of their family caregivers. Results: Patients were dissatisfied with life circumstances; the schizophrenia group and those with co-morbidity had significantly lower QOL scores; while the control group had higher QOL scores. There was no significant impact on QOL domains, of socio-demographic factors, duration of illness and treatment side effects. The schizophrenia group had least concordance with caregivers, but eight items were judged to be satisfactorily concordant for all groups. Conclusions: Psychiatric patients in stable condition can make reliable judgments of QOL, with relatives providing additional information. Differences in QOL and concordance of ratings reflect disease severity.     

Rare cause of subarachnoid hemorrhage: spinal meningeal carcinomatosis. Case report

Subarachnoid hemorrhage (SAH) of spinal origin is a rare entity accounting for approximately 1% of all cases of SAH. Its most frequent causes are trauma and vascular malformations. Although primary spinal tumors, especially ependymomas, are also relatively common causes, SAH secondary to a metastatic spinal tumor arising from outside the central nervous system is an extremely rare condition; only one case has been reported in the literature. The authors present a case of spinal meningeal carcinomatosis secondary to cutaneous malignant melanoma in which the patient presented with only symptoms of SAH. Although very rare, this case underscores several factors. 1) Spinal SAH due to spinal metastases should be considered in the differential diagnosis of patients with previously known malignancy. 2) Spinal SAH may manifest without paraparesis or sensory deficit. 3) Magnetic resonance imaging of the spinal cord may be important to determine the source of SAH in patients in whom four-vessel cerebral angiography demonstrates no abnormal findings.     

Efficacy of COX-2 inhibitors in a case of congenital nephrogenic diabetes insipidus

A 17-month-old boy presented with failure to thrive, polyuria, and vomiting. He had been diagnosed clinically with nephrogenic diabetes insipidus and treated by amiloride and hydrochlorothiazide combination without a satisfactory outcome at another center since 1 year of age. The diagnosis was confirmed by genetic analysis (AVPR2mutation), and the treatment was modified to include rofecoxib (a selective cyclooxygenase-2 inhibitor) in addition to hydrochlorothiazide and amiloride. This combination along with a low-salt diet resulted in a dramatic decrease in urinary free-water loss, while no side effect was noted. Because of prohibition of rofecoxib, it had to be substituted first by indomethacin and then by ibuprofen. However, both drugs were ineffective in controlling water diuresis. Thus, we had to replace these drugs by celecoxib (another selective cyclooxygenase-2 inhibitor). We conclude that the combination hydrochlorothiazide/amiloride/cyclooxygenase-2 inhibitor could be successfully used to treat congenital nephrogenic diabetes insipidus.     

Bronchial tear in a child after a liquid petroleum gas tank explosion

Humans have been exposed to blast effects since the invention of gunpowder and explosives. Bronchial injury because of an explosion is a rare but lethal injury that requires prompt recognition and treatment. In this article, we present a case of a bronchial tear after an explosion.     

Mutant mice lacking acetyl-CoA carboxylase 1 are embryonically lethal

Acetyl-CoA carboxylases (ACC1 and ACC2) catalyze the carboxylation of acetyl-CoA to form malonyl-CoA, an intermediate metabolite that plays a pivotal role in the regulation of fatty acid metabolism. We previously reported that ACC2 null mice are viable, and that ACC2 plays an important role in the regulation of fatty acid oxidation through the inhibition of carnitine palmitoyltransferase I, a mitochondrial component of the fatty-acyl shuttle system. Herein, we used gene targeting to knock out the ACC1 gene. The heterozygous mutant mice (Acc1(+/-)) had normal fertility and lifespans and maintained a similar body weight to that of their wild-type cohorts. The mRNA level of ACC1 in the tissues of Acc1(+/-) mice was half that of the wild type; however, the protein level of ACC1 and the total malonyl-CoA level were similar. In addition, there was no difference in the acetate incorporation into fatty acids nor in the fatty acid oxidation between the hepatocytes of Acc1(+/-) mice and those of the wild type. In contrast to Acc2(-/-) mice, Acc1(-/-) mice were not detected after mating. Timed pregnancies of heterozygotes revealed that Acc(-/-) embryos are already undeveloped at embryonic day (E)7.5, they die by E8.5, and are completely resorbed at E11.5. Our previous results of the ACC2 knockout mice and current studies of ACC1 knockout mice further confirm our hypotheses that malonyl-CoA exists in two independent pools, and that ACC1 and ACC2 have distinct roles in fatty acid metabolism.     

Serum copper and zinc concentrations in patients with brucellosis

The aim of this study was to measure the alterations in serum trace element concentrations, including zinc (Zn) and copper (Cu) in patients with brucellosis and to compare them with the results of healthy individuals. Seventy-five subjects, 60 patients with brucellosis and 15 healthy individuals were included in this study. The serum Zn and Cu concentrations were measured by using atomic absorbtion spectrophotometer in sera of patients with brucellosis and statistically compared with those of healthy individuals. Serum Cu concentration was found to be significantly higher in patients with brucellosis than that of healthy individual (130.5+/-24.7, 96+/-8.65 microg/dl, respectively) (p < 0.01). Serum Zn concentration was lower in patients with brucellosis than those of healthy subjects (79.5 +/-13.5 and 83+/-5.59 microg/dl, respectively) (p < 0.01). Serum trace element concentrations showed significant alterations in patients with brucellosis compared with healthy subjects.