Pyknodysostosis: A case report of an 8-year-old male with a rare genetic disorder.

INTRODUCTION AND IMPORTANCE: Pyknodysostosis is a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is an autosomal recessive disorder caused by mutations in the gene encoding cathepsin K. Pyknodysostosis is associated with short stature, brittle bones, and distinctive facial features. CASE PRESENTATION: This case report presents the clinical manifestations, diagnostic challenges, and management strategies of an 8-year-old male with pyknodysostosis, an extremely rare genetic disorder characterized by skeletal and craniofacial abnormalities. The patient's clinical presentation, radiographic findings, genetic testing results, and treatment approach are discussed. Additionally, the importance of genetic counseling and multidisciplinary care in managing this condition is emphasized. CLINICAL DISCUSSION: A multidisciplinary approach involving orthopedics, genetics, dentistry, and psychological support is crucial for managing patients with pyknodysostosis. Regular follow-up visits, careful monitoring of fractures, and appropriate interventions can improve the patient's quality of life and reduce complications. CONCLUSION: The importance of early recognition, genetic testing, and multidisciplinary care is emphasized for effective treatment and support. Further research is needed to enhance our understanding of this rare genetic disorder and develop targeted therapies.

Undifferentiated soft-tissue sarcoma (STS) in a 34-year-old woman: A case report.

INTRODUCTION AND IMPORTANCE: soft tissue sarcoma (STS) is a type of cancer that can affect connective tissue. Diagnosis of this malignant tumor is difficult, and complications are related to the pressure it can exert on surrounding body organs. Up to 50 % of STS patients develop metastatic disease, which greatly affects the prognosis and is challenging for the treating physician. CASE PRESENTATION: This case report is about a 34-year-old woman who was found to have significant growth of malignant tumor in her lower back due to misdiagnosis and negligence about her disease. After the cancer invaded the abdominal cavity, she died from related complications. CLINICAL DISCUSSION: STS are among the rare malignant tumors, and the mortality rate of these cancers is very high because they are often not properly diagnosed. CONCLUSION: Educating medical personnel, especially primary care physicians, about the symptoms and manifestations of STS can make a significant contribution to successful treatment. Due to the complexity of treatment, any soft-tissue swelling suspected of malignancy is best referred directly to a sarcoma center, where therapeutic management is carefully planned by an experienced multidisciplinary team.

Self-esteem and optimism in patients with major depression disorder: a cross-sectional study.

Background: Depressive disorders are common mental illnesses characterized by persistent feelings of sadness, hopelessness, and loss of interest in activities. Self-esteem refers to the appraisal of one's worth and personality, whereas optimism reflects a positive attitude and the expectation of positive outcomes. Therefore, the present study aims to determine the average self-esteem and optimism of patients with depression in 2022. Methods: The present study is a single center and prospective descriptive-analytical study in which 121 patients out of 154 participants with major depression using convenience sampling were studied. Recruitment started on 10 June 2022 and ended on 12 July 2022. Data were collected using a demographic questionnaire, the Rosenberg Self-Esteem Scale (RSES), and the Revised Life Orientation Test (LOT -R). Data analysis was performed using statistical tests and the Pearson correlation coefficient with SPSS software version 21. Results: The mean and SD of patients' self-esteem scores were 14.68±1.30, and the mean and SD for optimism scores were 9.90±1.68. Pearson correlation analysis showed that educational level had a significant inverse relationship with patients' self-esteem scores (r=-0.009, P=0.03), and sex had a significant relationship with patients' optimism scores (r=0.175, P=0.008). Conclusion: Considering the importance of self-esteem and optimism in the recovery and return to society of patients with major depression, it is necessary to take measures to strengthen and increase self-esteem and optimism in these patients.