Localized cystic disease of kidney (LCDK) is a rare, non-familial, non-progressive renal disorder that is not associated with cysts or disorders in other organs. Only a few cases have been reported in the literature. While this condition is morphologically identical to the autosomal dominant form of polycystic kidney disease, it is not inherited and is not associated with significant deterioration of renal function. We present a case of a 16-year-old male patient who suffered from hypertension for over two years. On imaging we found several, variable-sized cysts in the upper half of the right kidney. The left kidney and lower segment of the right kidney were normal. Selective renal vein catheterization and sampling showed markedly elevated renin level in the right upper segmental vein (92 pg/ml, normal value: 11-33 pg/ml). The patient underwent a right upper heminephrectomy and histopathology was suggestive of LCDK. After surgery, the patient's blood pressure returned to normal levels without any need of antihypertensive medication and he is under follow-up on outpatient basis for the past two years.
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http://dx.doi.org/10.4103/2156-7514.116191 | DOI Listing |
BMC Cancer
January 2025
Department of Tumor Biology and Genetics, Medical University of Warsaw, Warsaw, Poland.
Aim: The study was designed to evaluate molecular alterations, relevant to the prognosis and personalized therapy of salivary gland cancers (SGCs).
Materials And Methods: DNA was extracted from archival tissue of 40 patients with various SGCs subtypes. A targeted next-generation sequencing (NGS) panel was used for the identification of small-scale mutations, focal and chromosomal arm-level copy number changes.
BMJ Case Rep
January 2025
Department of General Surgery, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, Maharashtra, India.
A girl in early adolescence presented with complaints of abdominal pain lasting for 4 months, along with a palpable lump in the epigastric region. A CT scan revealed a large solid-cystic mass lesion measuring 9.5×10.
View Article and Find Full Text PDFNutrients
December 2024
Department of Pediatrics 1, "George Emil Palade" University of Medicine, Pharmacy, Sciences and Technology of Târgu Mureș, Gheorghe Marinescu Street no 38, 540136 Târgu Mureș, Romania.
The gut microbiome is essential for children's normal growth and development, with its formation aligning closely with key stages of growth. Factors like birth method, feeding practices, and antibiotic exposure significantly shape the composition and functionality of the infant gut microbiome. Small intestinal bacterial overgrowth (SIBO) involves an abnormal increase in bacteria within the small intestine.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Biomedical Sciences, University of Padova, Via U. Bassi 58/B, 35131 Padova, Italy.
Limb-girdle muscular dystrophy type 2E/R4 (LGMD2E/R4) is a rare disease that currently has no cure. It is caused by defects in the gene, mainly missense mutations, which cause the impairment of the sarcoglycan complex, membrane fragility, and progressive muscle degeneration. Here, we studied the fate of some β-sarcoglycan (β-SG) missense mutants, confirming that, like α-SG missense mutants, they are targeted for degradation through the ubiquitin-proteasome system.
View Article and Find Full Text PDFDiagn Pathol
January 2025
Cell Culture Laboratory, School of Dentistry, Federal University of Para, Rua Augusto Correa, 01 Guama, Belem, PA, 66075110, Brazil.
Background: Considering the significant participation of the microenvironment in the local aggressiveness of odontogenic keratocysts, this study aims to evaluate the expression of ADAMTS-1 and its substrates, versican, aggrecan and brevican in this locally invasive odontogenic cyst.
Methods: Immunohistochemistry and polymerase chain reaction (PCR) were conducted on 30 cases of odontogenic keratocysts (OKCs) and 20 dental follicles (DFs).
Results: The immunohistochemical expression of these proteins was predominantly cytoplasmic and granular across all samples.
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