A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.

Familial Mediterranean fever is an auto inflammatory genetic disease involving especially Turks, Armenians, Arabs and non-Ashkenazi Jews and caused by variants in the MEFV gene. In this study, we aimed to evaluate the distribution and frequency of clinical, MEFV gene variants in FMF patients and the relationship between mutations in different exons and phenotype-genotype and clinical findings. 1028 patients diagnosed as FMF were included. The most common genotypes were M694V / R202Q heterozygous (10.4%), M694V homozygous (7.5%), M694V / E148Q / R202Q heterozygous (4.6%), V726A heterozygous (4.5%), M680I heterozygous (4.2%). c.1611-1 G > C, G152R, S104C, R116S, E336K, R461Q mutations were detected in the literature for the first time in FMF patients. We also divided the patients into 4 groups according to whether the MEFV mutations were exon 10 or non-exon 10. The first group consisted of non-exon 10 homozygous or compound heterozygous (n = 180) patients, Group 2 consisted of exon 10- non-exon 10 compound heterozygous (n = 318) patients, Group 3 consisted of exon 10 homozygous or compound heterozygous (n = 256) patients, while Group 4 consisted of heterozygous (n = 227) patients at any exon. There was no significant difference between the groups in terms of abdominal pain, arthritis, arthralgia, vomiting diarrhea, erysipelas like rash, amyloidosis, renal failure family history. There was no difference in fever between Group 1 (55.6%) and 2 (62.3%); however, these two groups were different from Group 3 (75.8%) and 4 (76.7%). Group 3 (18.8%) had the highest rate of appendectomy. In addition, allele frequencies of all mutations detected in the analyses were compared with allele frequencies of healthy people in the gnomad database. It is useful to analyse all exons in the MEFV gene with the next generation sequence analysis in the detection of FMF disease. S104C, R116S, G152R, E336K, R461Q, L508Q and c.1611-1 G > C mutations are also new variants in literature. c.1611-1 G > C is a possible pathogenic variant.

Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis.

Osteopoikilosis is an inherited condition with autosomal dominant trait resulting in sclerotic foci throughout the skeleton. It has been suggested that loss-of-function mutations of LEMD3 gene located on 12q14.3 result in osetopoikilosis. A bp heterozygote deletion was detected in our patient at the cytosine nucleotide at position 1105 with molecular genetic analysis. Although this mutation has not been previously described, it was considered to be the most likely cause of the disease in our patient due to frame shift and premature stop codon formation. As in our case, three phase bone scintigraphy and whole body imaging did not reflect the true extent of lesion sites and lesion activity. SPECT/CT images could reflect lesion location and activity more accurately, and could be a good alternative for differential diagnosis of unexplained bone pain and sclerotic lesions in one examination.

Does thiol-disulphide balance show oxidative stress in different MEFV mutations?

Many studies have shown that oxidative stress levels increase in patients with Familial Mediterranean Fever (FMF). Thiols are a class of compounds that include a sulfhydryl group (-SH) and can react with free oxygen radicals to protect tissues. We aimed to investigate thiol-disulphide homeostatic status in FMF patients and examined the effect of different mutations in the MEFV gene on the thiol-disulphide balance. We investigated thiol-disulphide parameters in patients with FMF and healthy controls. To determine the differential effect of MEFV gene mutations on thiol-disulphide balance, subjects were divided into five groups based on homozygous or compound heterozygous exon 10 and nonexon 10 mutations. Tests of thiol-disulphide homeostasis were conducted using the automated spectrophotometric method. Patients with FMF had significantly lower native thiol [433.8 µmol/l (243.3-536.4) vs. 484.1 µmol/L (340.2-612.3), p  < 0.001], total thiol levels [459.7 µmol/L (281.3-575.4) vs. 529.9 µmol/L (363-669.5), p < 0.001], and disulphide levels [14.0 µmol/l (2.7-33.3) vs. 24.4 µmol/l (7.2-36.6), p < 0.001] compared to the control group. Moreover, disulphide/native thiol (3.4 ± 1.7 vs. 4.7 ± 1.3, p < 0.001) and disulphide/total thiol (3.1 ± 1.4 vs. 4.3 ± 1.0 p < 0.001) were also detected lower in the FMF group compared to the control group. But the native thiol/total thiol ratios (93.6 ± 2.9 vs. 91.3 ± 2.1, p < 0.001) were higher in the FMF group. There was no significant difference between the native thiol, total thiol, and disulphide levels of individuals with nonexon 10 homozygous or compound heterozygous (Group 1), nonexon 10-exon 10 compound heterozygous (Group 2), exon 10 homozygous or compound heterozygous (Group 3), and heterozygous (Group 4) mutations. However, these parameters significantly differed from those of the healthy control group. Since no differences were found in our study between thiol and disulfide levels of Groups 1, 2 and 3, we believe that this rate cannot be shown as an indicator of oxidative damage in different mutations of FMFs. To the best of our knowledge, this study is the first study that demonstrates the effect of different FMF mutations on the thiol-disulphide balance.

A Case of New-Onset Dermatomyositis in the Second Trimester of Pregnancy: A Case Report and Review of the Literature.

Dermatomyositis (DM), a subtype of idiopathic inflammatory myopathies (IIMs), is characterized by skin rash, proximal muscle weakness, and inflammatory infiltrates in the muscle tissue. The peak incidence of the disease is at the age of 50-60 years, and only 14% of the patients with IIMs are estimated to present during reproductive years. Because of the limited pregnancy experience in patients with IIMs, little is known regarding the effects of DM on pregnancy or vice versa. We herein report a 40-year-old woman who developed DM in the second trimester of her pregnancy and did not respond to treatment with methylprednisolone. Her pregnancy was terminated at the 32nd week of gestation, due to preeclampsia and fetal distress. She delivered a healthy baby and improved rapidly after delivery. We have searched PubMed for relevant articles and reviewed previously published cases.

Temporal arteritis in a young patient.

Temporal arteritis in the young is clinically and histologically different from classic giant cell arteritis of the elderly population. A male patient, aged 36 years, presented with headache and a nodule in his left temporal region. Histological examination of the nodule showed that the left temporal artery was encircled by a lymphoid tissue with prominent germinal centres. The arterial wall was infiltrated with mixed inflammatory cells, the internal elastic lamina was disrupted, and there was marked intimal hyperplasia. The patient was diagnosed with juvenile temporal arteritis. Because of persistent headache after surgical excision of the lesion, the patient was treated with prednisolone. Systemic vasculitides, classic giant cell arteritis, Kimura's disease, and angiolymphoid hyperplasia with eosinophilia should be considered in the differential diagnosis of the disease.

Two bacteremia cases associated with Rothia mucilaginosa.

We here report two cases of blood stream infection due to Rothia mucilaginosa. The isolates were identified as R. mucilaginosa using a VITEK 2 automated sytem and a MALDI-TOF MS system. Then, 16S rRNA gene sequencing was performed for the confirmation of the isolates. This is the first documented report of bacteremia due to this unusual agent in Turkey.

Abdominal pain may dominate the scene of idiopathic aortitis.

A 59-year-old man suffering from abdominal pain and having high acute phase reactants was admitted to hospital. Aortitis was discovered incidentally with magnetic resonance that was performed for another prediagnosis. Steroid and azathioprine combination was unsuccessful for remission and preventing relapses. However, steroid and methotrexate combination was successful for clinical and laboratory remissions. Also, the iliac artery occlusion was improved with stent implementation. In general, isolated idiopathic aortitis is a very rare entity and hard to be diagnosed. In this case, we describe a patient with aortitis that has only abdominal pain and treated with steroid and methotrexate combination.