Cesarean scar endometrioma: Case series

AIM: To evaluate endometrioma located at cesarean scatrix.METHODS: Medical data of 6 patients who presented to our institution with abdominal wall endometrioma were evaluated retrospectively and reviewed literature in this case series. The diagnostic approaches and treatment is discussed.RESULTS: All patients had a painful mass located at abdominal scars with history of cesarean section. The ages ranged from 31 to 34 and Doppler ultrasonography (US) detected hypoechoic mass with a mean diameter of 30 mm. Initial diagnosis was endometrioma in 4 and incisional hernia in 2 of 6 patients. Treatment was achieved with surgical excision in 5 patients, and one is followed by hormone suppression therapy with gonadotropin.CONCLUSION: Malignant or benign tumors of abdominal wall and incisional hernias should be kept in mind for diagnosis of endometrioma. Imaging methods like doppler US, computed tomography and magnetic resonance imaging should be used for differential diagnosis. Definitive diagnosis can only be made histopathologically. The treatment should be complete surgical excision and take care against intraoperative auto-inoculation of endometrial tissue in order to prevent recurrences.     

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.Methods:Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated. Homozygosity mapping was performed, followed by whole-exome sequencing of WFS1. Mutations were classified according to results of “in silico” analyses, protein prediction, and functional consequences.Results:Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, that was absent in their unaffected siblings. Exome sequencing identified three novel (c.1215T>A, c.554G>A, c.1525_1540dup) and one known (c.1522_1523delTA) mutations in WFS1. All mutations were predicted to cause stop codon leading to early termination of protein synthesis and complete loss-of-function. All patients were found to be homozygous for the change, with parents and other unaffected siblings being carriers.Conclusion:Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.     

Measurement of chimerism in cynomolgus monkeys using human-specific short tandem repeat-based assay

Preclinical testing of a mixed chimerism mediated organ transplant tolerance strategy, in a cynomolgus macaque model, would be facilitated by the establishment of a reliable technique for quantitative assessment of chimerism. Among various techniques used for measurement of chimerism in humans, microsatellite DNA profiling has been considered the most versatile one that can discriminate between two individuals. We adopted a commercially available short tandem repeat profiling methodology to cynomolgus monkeys using two human specific alleles, TPOX and CSF1PO. Polymerase chain reaction (PCR) was used to amplify these alleles, and the analysis of the PCR products was performed by capillary electrophoresis. Of 54 cynomolgus macaques investigated, only one pair with the same ABO blood type demonstrated identity at both alleles. This implies that this technique should interfere minimally with the assignment of donor-recipient pairs based upon molecular tissue typing or mixed lymphocyte cultures.     

Concurrent Poland anomaly and idiopathic hirsutism

Poland syndrome is characterized by congenital and unilateral absence of the pectoralis major muscle and ipsilateral upper limb anomalies. Identified patients also may include other disorders. We report a 15-year-old Caucasian woman with a unilateral hypoplasia of the breast and nipple, ipsilateral chest wall depression deformity, pectoralis major muscle agenesis, and severe hirsutism (Ferriman-Gallwey score: 21) without extremity anomaly. She had regular menses, and no hormonal abnormality and family history of hirsutism. Therefore, she was considered as a case of idiopathic hirsutism. This is the first case report of hirsutism in a patient with Poland syndrome.     

Pyoderma gangrenosum and exacerbation of psoriasis resulting from pegylated interferon alpha and ribavirin treatment of chronic hepatitis C

Interferon therapy is the cornerstone of chronic hepatitis C treatment. Side effects of interferon include possible triggering or exacerbation of immune diseases in consequence of immunomodulatory effects. We describe the unique case, in which pyoderma gangrenosum and exacerbation of psoriasis were developed 8 weeks after pegylated interferon alpha 2a and ribavirin therapy in a 45-year-old woman. The therapy had to be stopped on account of pyoderma gangrenosum and exacerbation of psoriasis in spite of a biochemical response to the therapy for hepatitis C. The evolution was favorable after stopping treatment. Therefore, we propose this would suggest a possible autoimmune mechanism for the development of pyoderma gangrenosum and exacerbation of psoriasis with pegylated interferon therapy. A susceptible patient, who has an autoimmune disease before interferon therapy, had to be informed that interferons may induce de novo or exacerbate existing immune diseases by immunomodulatory actions. To the best of our knowledge, this is the first case report of pyoderma gangrenosum and psoriasis that resulted from pegylated interferon alpha 2a and ribavirin treatment of chronic hepatitis C.