Vitamin D deficiency is not the only etiologic factor in AA pathogenesis, but in the presence of other etiological factors, this deficiency can aggravate AA severity, and thus, vitamin D supplementation may be beneficial in treatment of pediatric AA.
Clinical and genetic findings of familial Mediterranean fever (FMF) may be variable in different populations. Environmental factors may also affect phenotypic features of FMF. In this study, we investigated demographic, clinical and mutational features of FMF patients who were treated in a single reference hospital in Turkey. Two hundred and sixty patients (169 females, 91 males, mean age 30.44 +/- 10.29 years) were included in this study. All patients were evaluated regarding MEFV gene mutations. The mean age of disease onset was 17.21 +/- 8.66 years (range 2-40 years). The mean duration between the disease onset and diagnosis was 9.39 +/- 8.92 years. Seventy percent of patients had symptoms before 20 years of age (early onset FMF). Arthritis and erysipelas like erythema (ELE) were more common, and the mean duration between the disease onset and diagnosis was longer in early onset FMF patients. The frequency of attacks per year, and disease severity score (DSS) was higher in early onset patients. Homozygote mutation of M694V was detected in 37 (20.2%) and 4 (5.2%) patients in early onset FMF and adult onset FMF groups, respectively (p < 0.05). Histological diagnosis of amyloidosis was established in 7 patients (2.7%). The age of disease onset was earlier, and arthritis and ELE were more frequent, and DSS was higher in patients with M694V/M694V mutation. In conclusion, mean delay to diagnosis in our FMF population is quite high. Early and adult onset forms may differ regarding some clinical, molecular and prognostic characteristics. Disease activity was higher in patients with homozygote mutation of M694V.
group after euthyroidism was achieved, which denotes improvement in color contrast sensitivity. Conclusions: It is a novel finding of the current study that color contrast sensitivity is impaired in hypothyroidism and significantly improves after euthyroidism is achieved.
These findings indicate that PCOS has target organ effects on the eye. Consequently, it can change central corneal thickness. Higher IGF-1 levels seem to be the main causes of increased corneal thickness. Insulin resistance in PCOS is one of the underlying causes and promotes increase in IGF-1. We suggest a careful and detailed corneal evaluation in PCOS patients to prevent the potential risk of increased CCT, in addition to the already-known complications.
Thyroid lipomatosis is a rare condition characterized by the presence of abundant mature adipose tissue in the thyroid gland. We herein report the case of a 43-year-old man with chronic renal failure caused by amyloidosis presenting with an asymmetrically enlarging thyroid gland. The patient's thyroid hormone levels were normal, and test results for thyroid autoantibodies were negative. A thyroid scan showed diffuse uptake of the radioisotope with a cold area in the left lobe. The pathology of the thyroidectomy material indicated thyroid lipomatosis, and minimal amyloid staining was noted around the thyroid follicles. Thyroid lipomatosis should therefore be kept in mind when making a differential diagnosis of fatty infiltration of amyloid goiter.
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