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1.
Case Reports Plast Surg Hand Surg ; 11(1): 2347653, 2024.
Article in English | MEDLINE | ID: mdl-38715866

ABSTRACT

Carney complex is a rare autosomal dominant familiar multiple neoplasia syndrome combined with cardiocutaneous manifestations. Our report describes a Carney complex case with bilateral myxoid fibroadenomas that led to a bilateral mastectomy. An 18-year-old female patient presented at our clinic with complaints of multiple palpable lumps in her breasts bilaterally. On physical examination the patient had also multiple pigmented lentiginous lesions on her face, body and her sclerae, blue nevi on her trunk and upper extremities and a round moon-shaped face. The diagnosis of Carney syndrome was decided upon imaging, biopsies and genetic analysis. The patient underwent a bilateral mastectomy as a prophylactic treatment plan with tissue expanders' placement. Breast myxomatosis due to Carney complex is a common characteristic in female patients. Prophylactic mastectomy must be considered as a therapeutic intervention in these cases since it provides a definite treatment, with minimal side effects and excellent outcomes.

2.
Case Rep Surg ; 2023: 8104679, 2023.
Article in English | MEDLINE | ID: mdl-37396493

ABSTRACT

Carcinoma of the gallbladder is the most common biliary tract cancer. The majority of gallbladder cancers are adenocarcinomas, whereas clear-cell carcinoma of the gallbladder (CCG) is a rarely recorded variant. Usually, diagnosis is established incidentally after cholecystectomy, performed for another reason. Clinically, the different histological types of carcinomas are impossible to be recognized preoperatively, since they present with a wide and common range of symptoms. We present a male patient who underwent an emergency cholecystectomy due to suspected perforation. After an uneventful postoperative period, the histopathological report led to the diagnosis of CCG, but the surgical margins were infiltrated by the tumor. The patient decided not to proceed with any additional treatment and passed away 8 months after the operation. In conclusion, it is of great necessity to record such unusual cases and enriches global knowledge with information clinically and educationally noteworthy.

3.
Nephrol Dial Transplant ; 34(10): 1780-1788, 2019 10 01.
Article in English | MEDLINE | ID: mdl-30844074

ABSTRACT

BACKGROUND: Complement factor H-related protein 5 (CFHR5) nephropathy is an inherited renal disease characterized by microscopic and synpharyngitic macroscopic haematuria, C3 glomerulonephritis and renal failure. It is caused by an internal duplication of exons 2-3 within the CFHR5 gene resulting in dysregulation of the alternative complement pathway. The clinical characteristics and outcomes of transplanted patients with this rare familial nephropathy remain unknown. METHODS: This is a retrospective case series study of 17 kidney transplant patients with the established founder mutation, followed-up over a span of 30 years. RESULTS: The mean (±SD) age of patients at the time of the study and at transplantation was 58.6 ± 9.9 and 46.7 ± 8.8 years, respectively. The 10- and 15-year patient survival rates were 100 and 77.8%, respectively. Proteinuria was present in 33.3% and microscopic haematuria in 58.3% of patients with a functional graft. Serum complement levels were normal in all. 'Confirmed' and 'likely' recurrence of CFHR5 nephropathy were 16.6 and 52.9%, respectively; however, 76.5% of patients had a functional graft after a median of 120 months post-transplantation. Total recurrence was not associated with graft loss (P = 0.171), but was associated with the presence of microscopic haematuria (P = 0.001) and proteinuria (P = 0.018). Graft loss was associated with the presence of proteinuria (P = 0.025). CONCLUSIONS: We describe for the first time the clinical characteristics and outcome of patients with CFHR5 nephropathy post-transplantation. Despite the recurrence of CFHR5 nephropathy, we provide evidence for a long-term favourable outcome and support the continued provision of kidney transplantation as a renal replacement option in patients with CFHR5 nephropathy.


Subject(s)
Complement System Proteins/genetics , Glomerulonephritis/mortality , Kidney Diseases/complications , Kidney Transplantation/mortality , Mutation , Adult , Aged , Female , Glomerulonephritis/etiology , Glomerulonephritis/surgery , Humans , Kidney Diseases/genetics , Male , Middle Aged , Prognosis , Retrospective Studies , Survival Rate
4.
Mol Med ; 15(7-8): 242-7, 2009.
Article in English | MEDLINE | ID: mdl-19593408

ABSTRACT

Hypothalamic growth hormone (GH)-releasing hormone (GHRH) regulates the release of GH from the pituitary gland. The receptors for GHRH (GHRH-R) are expressed predominantly in the pituitary. Recent evidence demonstrates that splice variants of the GHRH receptor are also expressed in several nonpituitary tissues, both normal and tumoral, as well as in cancer cell lines. The aim of this study was to investigate the expression of the splice variant 1 (SV-1) of GHRH-R in colorectal cancer (CRC). Seventy patients who underwent partial colectomy for CRC were enrolled in the study. Immunohistochemical expression of SV-1 was studied in paraffin-embedded sections of patient tumor tissue. A cytoplasmic supranuclear expression of SV-1 was observed in CRC as well as in the normal colon mucosa. Tumor grade and pathological stage were negatively correlated with expression of SV-1 (P = 0.012 and P = 0.013, respectively). CRCs metastatic to the liver showed a lower expression of SV-1 than did primary tumors, but this difference was not statistically significant. Kaplan-Meier and Cox univariate survival analyses indicated an improved survival time in patients with high SV-1 compared with those with low GHRH-R expression, but this difference was not statistically significant. The immunohistochemical expression of SV-1 seems to be a favorable prognostic factor in CRC.


Subject(s)
Biomarkers, Tumor/biosynthesis , Colorectal Neoplasms/metabolism , Receptors, Neuropeptide/biosynthesis , Receptors, Pituitary Hormone-Regulating Hormone/biosynthesis , Adult , Aged , Aged, 80 and over , Axin Protein , Cadherins/metabolism , Cohort Studies , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/pathology , Cytoskeletal Proteins/metabolism , Female , Humans , Immunohistochemistry , Kaplan-Meier Estimate , Male , Middle Aged , Neoplasm Invasiveness , Neoplasm Metastasis , Neoplasm Staging , Prognosis , Proportional Hazards Models , Protein Isoforms , Statistics, Nonparametric
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