X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome.
These results demonstrate that the epithelial expression of apoptotic, cell proliferation, and structural proteins is augmented with the increase of the solar elastosis grade. Thus, the grade of solar elastosis could be a helpful morphologic marker in the assessment of neoplastic changes in sun-damaged skin.
Chromoblastomycosis (CBM) is a chronic subcutaneous mycosis, caused by several dimorphic, pigmented dematiaceous fungi. Patients with the disease are still considered a therapeutic challenge, mainly due to its recalcitrant nature. There is no "gold standard" treatment for this neglected mycosis, but rather there are several treatment options. Chemotherapy alternatives include 5-flucytosine, itraconazole, terbinafine, fluconazole, thiabendazole, ketoconazole and amphotericin B, although the healing of severe cases is still uncommon. However, several studies have reported the DNA vaccine to be promising in the treatment for fungal infections; this vaccine allows the host to restore depressed cellular immunity, minimizing the toxic effects from conventional antifungal therapies. This work was therefore carried out aiming to establish a suitable model for experimental CBM, suggesting also new therapies, including DNA-hsp65 vaccine. By analyzing the morphometrical and histopathological aspects and by quantifying the fungal burden, the results showed the establishment of a chronic, although transitory, experimental CBM model with lesions similar to those presented in humans. A treatment regimen using intralesional itraconazole or amphotericin B was effective in treating experimental CBM, as was a therapy using naked DNA-hsp65 vaccine. It has also been shown that chemotherapy associated with DNA-hsp65 vaccine is promising in the treatment for CBM.
Considering the limitations of cytology for detection of residual cervical cancer after radiotherapy, the aim of this study was to evaluate the frequency and viral load of high-risk HPV in cervical and vaginal samples during the early follow-up of patients treated for invasive cervical cancer and correlate the results with cytological examination. Conventional cytology and hybrid capture test were performed on cervical and vaginal samples of 52 women with invasive cervical carcinoma 3 months after therapy. High-risk HPV was detected in 46.1% of the samples and the median and the range of the ratio relative light unit (RLU)/cutoff (CO) (estimated viral load) in positive samples was 1.71 (1-2120.03). No significant difference was observed in viral frequency and in median of the ratio RLU/CO between samples of patients at different stages (I-III) and between cervical samples, from patients treated by exclusive radiotherapy with or without chemotherapy, and vaginal samples, from patients who underwent to hysterectomy and radiotherapy with or without chemotherapy. Cytological abnormalities were more frequent significantly in samples with HPV than in samples without HPV. The viral load was also higher significantly in samples with cytological abnormalities when compared with the samples without cytological abnormalities. In conclusion, HPV detection methods may be useful during the early follow-up as a complement to conventional cytology for the diagnosis of residual cervical cancer after radiotherapy.
Introduction: This study evaluated the level of concordance between hybrid capture II (HCII) and PapilloCheck ® for the detection of high-risk human papillomavirus (HPV) in anal samples. Methods: Anal cell samples collected from 42 human immunodeficiency virus (HIV)+ patients were analyzed. Results: Considering only the 13 high-risk HPV types that are detectable by both tests, HCII was positive for 52.3% of the samples, and PapilloCheck ® was positive for 52.3%. The level of concordance was 80.9% (Kappa = 0.61). Conclusions: Good concordance was observed between the tests for the detection of high-risk HPV.Keywords: Human papillomavirus. PapilloCheck ® . Hybrid capture II.Human papillomavirus (HPV) tests can be very useful for improving the sensitivity of cytology to detect anal intraepithelial neoplasia (AIN) and in post-treatment followup because of the tests' excellent negative predictive value 1,2 . Different tests for the detection of high-risk HPV have been used to assess cervical specimens 3 . The hybrid capture II (HCII) test (QIAGEN, Gaithersburg, MD, USA) is approved by the US Food and Drug Administration (FDA) and is used to validate new high-risk HPV tests for cervical screening. Two different probe cocktails are used; one comprises probes for the five low-risk genotypes, 6, 11, 42, 43 and 44, and the other contains probes for the 13 high-risk genotypes, 16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59 and 68 4 . The test recognizes all 13 HPV types, which are classified as class I carcinogenic with respect to cervical cancer by the World Health Organization (WHO) 5 . However, this test has certain limitations, namely that it distinguishes between the high-risk and low-risk groups but does not permit the identification of specific HPV genotypes or multiple HPV infection 6 . In addition, cross-reactivity between the two probe cocktails has been observed 7 . Relative light unit (RLU)/cut-off (CO) values are considered to provide a semiquantitative estimate of viral load 4 .The PapilloCheck ® test (Greiner Bio-One, Frickenhausen, Germany) is a polymerase chain reaction (PCR)-based deoxyribonucleic acid (DNA) microarray system that allows the genotyping of 24 different HPV types (six low-risk and 18 high-risk types). The high-risk types include the 13 high-risk types detected by HCII and types 73, 82, 53, 66 and 70. The low-risk types include types 6, 11, 40, 42, 43 and 44/55 8 . The results are expressed qualitatively and semiquantitatively by signal-to-noise ratio (SNR) for 24 low-and high-risk HPV types simultaneously. The PapilloCheck ® test distinguishes HPV types and multiple HPV infection and provides the SNR value for each type 8 . The PapilloCheck ® test has been considered a reliable screening test for HPV detection and typing 9,10 . Because HCII and PapilloCheck ® are commercially available and widely used for routine diagnosis, this study evaluated their level of concordance for the detection of high-risk HPV in anal cytological samples.This study included 42 human immunodeficiency vi...
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