The p53 positivity detected only in serous carcinomas shows its role in carcinogenesis. p53 was expressed at a significantly higher rate in advanced stage carcinomas (p = 0.031). nm23 expression in benign, borderline and malignant tumors was not significantly different. nm23 positivity was higher in advanced stage carcinomas (p = 0.032). This suggest that nm23 acts like an oncogene in ovarian carcinomas. There was no significant difference between the groups in terms of bcl-2 expression.
Background: The term “H syndrome” was coined to denote the major clinical findings, which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hyperglycaemia, hypogonadism, hallux flexion contractures, and short height. Objective: To report the clinical, endocrinological, histochemical, and genetic findings of three siblings. Methods: Skin and liver biopsies were taken to investigate the histochemical characteristics of hyperpigmented hypertrichotic skin lesions and massive hepatomegaly. The levels of basal serum thyroid hormones, oestradiol, total testosterone, follicle-stimulating hormone, luteinising hormone, and stimulated growth hormone (GH) were measured to investigate the endocrine aspects of the syndrome. Mutation analysis was carried out in all six exons and exon-intron boundaries of SLC29A3 by direct sequencing. Results: Physical examination of the patients revealed common characteristic findings of H syndrome. Additional clinical findings were sectorial iris atrophy in the younger sister. Laboratory evaluation revealed microcytic anaemia, markedly increased erythrocyte sedimentation rate and C-reactive protein levels, and humoral immune deficiency in the younger siblings, who presented with recurrent fever and sinopulmonary infection. Two different GH stimulation tests revealed GH deficiency in the younger sister with short stature. Liver and skin biopsies revealed polyclonal lymphohistiocytic and plasma cell infiltration. Sequencing of SLC29A3 in the three siblings revealed a novel homozygous mutation in exon 6, which caused the transition of arginine to tryptophan. Conclusion: This study not only extended the clinical and mutation spectrum of SLC29A3 in H syndrome, but also showed that short children should be assessed according to the guidelines for short stature in children.
In this paper an unusual case of lymphadenopathy associated with Actinomyces infection is reported. In the literature, there are only two cases presented with histopathologic features. A forty-year-old male patient was admitted to the hospital with painless mass on the neck. Clinical examination revealed a firm mass on the right submandibular region. The patient had no malignancy history. A cystic mass radiologically compatible with abscess was detected adjacent to the submandibular gland. Sialadenitis and lymphadenitis were considered but the mass was refractory to the antibiotherapy. The mass and the right submandibular gland were excised. Histopathologic evaluation of the lymph node revealed characteristic sulfur granules of Actinomyces.
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