Vitamin D (Vit D) is a prohormone that can be activated during a sequential hydroxylation done by two major mitochondrial cytochrome P450 liver and renal enzymes. Vit D-dependent rickets type 1 (VDDR1) is a rare autosomal recessive hereditary disorder resulting from defective renal 1α-OHase presenting with severe rickets, hypocalcemia, and secondary hyperparathyroidism. Although homozygous Vit D hydroxylation deficient patients develop severe rickets symptom and signs before the age of 12 months, heterozygous types have minor symptoms and are extremely rare presenting as late as 14 years after birthday. Here we present a suspicious case of VDDR1 at 21 years old of age with mild symptoms and signs.
Introduction: Frotteuristic sexual interest is a rare psychiatric disorder characterized by at least six months of recurrent and intense sexual arousal from touching or rubbing against a non-consenting person, usually in a crowd. Case Presentation: A six-year-old boy was referred to the psychiatrist while accompanied by his mother and grandmother with the complaint of excessively rubbing his genitalia many times a day against his female family members' bodies, primarily their buttocks. Conclusions: Experts are advised to focus on diverse sexual history dimensions, especially uncontrollable masturbation behaviors, that can predict sexual interests. Although frotteurism is a rare psychiatric disorder, and although this case is atypical given the early childhood presentation of abnormal sexual behavior carried out secretly and not in a crowd, it is clear that frotteurism is the appropriate diagnosis after ruling out other more common disorders.
Introduction: Breast cancer is known as the most common type of cancer among women in the world. Several methods have been proposed to predict the behavior of breast carcinoma. Recently calretinin has been found to be a reliable factor in predicting tumor survival rate in breast cancer. The aim of this study was to evaluate the relative frequency of calretinin expression in patients with breast cancer in Yazd,Iran. Material and methods: In this cross-sectional retrospective study, the clinicopathologic features and the outcome of patients with breast cancer from 2017 to 2018 were reviewed at Shahid Sadoughi Hospital, Yazd, Iran. The influence of potential prognostic parameters in the overall survival was investigated by log-rank test and Cox regression analysis. Results: Among 100 cases with breast carcinoma, 14.5% were positive for calretinin. The distribution of the rate of positivity of IHC markers including ER, PR, P53, Ki67 and Her2 was 62.9%, 57.1%, 46.2%, 80.5% and 22.1%, respectively. The most common grade and stage were grade2 and stage3 respectively. There was no significant difference in the status of IHC markers (including ER, PR, Her2 and Ki67) in terms of calretinin. 66.7% of the patients with calretinin positive results were P53 positive. The results of the mean tumor size distribution in the two groups of positive and negative calretinin showed a significant difference (P-value = 0.05). A lower age at the time of diagnosis was found in patients with calretinin positive results (P-value = 0.119). The mean survival rate in calretinin positive group was 6.71 years and 6.62 years in calretinin negative patients which was not statistically significant. Conclusion: The results of this study indicated an association between calretinin expression and other IHC markers (although not statistically significant) in predicting poor prognosis in breast cancer patients. In addition, we found a statistically significant association among calretinin with smaller tumor size and lower age at the time of diagnosis in patients with breast cancer.
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