Publications by authors named "Denes F"

Article Synopsis
  • - Hydrocolpos is a rare condition where the vagina becomes cystically dilated, often due to issues like an imperforate hymen or vaginal atresia, and can also relate to genetic disorders like Bardet-Biedl syndrome (BBS).
  • - A specific case involving neonatal hydrocolpos linked to BBS was studied, revealing a novel mutation in the BBS10 gene, highlighting the need for genetic testing in similar cases.
  • - It’s crucial for pediatric urologists to consider genetic conditions like BBS in neonates with hydrocolpos, as these can lead to serious complications like kidney issues and obesity.
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Background: Prune belly syndrome (PBS) is characterized by the triad of abdominal flaccidity, bilateral undescended testicles and genitourinary tract anomalies. A variable spectrum of abdominal wall laxity is observed in PBS. We present the first case of a novel technique using a minimally invasive abdominoplasty to specifically address patients with localized abdominal wall weakness in PBS.

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Five-membered ring systems are ubiquitous throughout natural products and synthetic therapeutics, and thus, efficient methods to access this essential scaffold are required. Herein, we report the thioacid-mediated, 5--trig cyclization of various 1,6-dienes, with high yields of up to 98%. The labile thioester functionality can be exploited to generate a free thiol residue which can be used as a functional handle or removed entirely to provide the traceless cyclized product.

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Several types of Quantum Dots (QDs) (CdS, CdSe and InP, as well as core-shell QDs such as type I InP-ZnS, quasi type-II CdSe-CdS and inverted type-I CdS-CdSe) were considered for generating α-aminoalkyl free radicals. The feasibility of the oxidation of the N-aryl amines and the generation of the desired radical was evidenced experimentally by quenching of the photoluminescence of the QDs and by testing a vinylation reaction using an alkenylsulfone radical trap. The QDs were tested in a radical [3+3]-annulation reaction giving access to tropane skeletons and that requires the completion of two consecutive catalytic cycles.

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Tropanes and related bicyclic alkaloids are highly attractive compounds possessing a broad biological activity. Here we report a mild and simple protocol for the synthesis of N-arylated 8-azabicyclo[3.2.

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Pediatric adrenocortical tumors (PACTs) represent rare causes of malignancies. However, the south/southeast regions of Brazil are known to have a high incidence of PACTs because of the founder effect associated with a germline pathogenic variant of tumor suppressor gene TP53. We aimed to retrospectively analyze the types of variables among hormone production, radiological imaging, tumor staging, histological and genetic features that were associated with the occurrence of malignancy in 95 patients (71% females) with PACTs from a unique center.

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Background: Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia. The expression of different miRNAs in many organs of the male genital system has been reported, and these miRNAs have been associated with testicular function and its disorders, but no description has been related to DSD conditions.

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Introduction: Aphallia is a rare congenital disorder pertaining to genotypic males. Early surgical creation of a neophallus is recommended to reinforce the child's male gender-identity, favoring proper psychosexual development. Modern microsurgical techniques used to create a neophallus in adults are not recommended in children due to the invasiveness and complexity of the procedures, along with high complication rates.

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Unlabelled: A major challenge in the management of ureteropelvic junction obstruction (UPJO) is the selection of patients who would benefit from surgical treatment. Tissue inhibitor metalloproteinase-2 (TIMP-2) and insulin-like growth factor-binding protein 7 (IGFBP7) indicate renal cell stress and are associated with cell cycle arrest. The [TIMP-2] [IGFBP7] ratio (Nephrocheck®) has been recently applied in patients in intensive care units patients to predict the development of acute kidney injury.

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The monoalkylation of -methoxypyridinium salts with alkyl radicals generated from alkenes ( hydroboration with catecholborane), alkyl iodides ( iodine atom transfer) and xanthates is reported. The reaction proceeds under neutral conditions since no acid is needed to activate the heterocycle and no external oxidant is required. A rate constant for the addition of a primary radical to -methoxylepidinium >10 M s was experimentally determined.

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Prune belly syndrome (PBS) is characterized by the triad of abdominal flaccidity, a variable degree of urinary tract involvement and cryptorchidism. Most cases of PBS are sporadic and have a normal karyotype, with 95% patients being male. In the last decade, mutations in known genes that regulate embryonic genitourinary myogenesis have been identified and with increasing knowledge of these critical genes involved in bladder maldevelopment, advances can be made in genetic counseling.

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Introduction: Ureteropelvic junction obstruction (UPJO) particularly represents a challenge in regard to management, as not all hydronephrosis (HN) represent a kidney-damaging state. Urinary biomarkers have been proposed as noninvasive tools. Extracellular matrix (ECM) proteins are associated with tissue fibrosis in the setting of UPJO and is poorly explored.

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Introduction: Symptomatic duplex kidneys usually present with recurrent urinary tract infection due to ureteral obstruction (megaureter, ureterocele or ectopic ureter) and/or vesicoureteral reflux. Upper-pole nephrectomy is a widely accepted procedure to correct symptomatic duplex systems with poor functioning moieties, also known as upper or proximal approach. The distal ureteral stump syndrome (DUSS) can be a late complication of this approach.

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Objective: Few and conflicting reports have characterized the genetics of paediatric pheochromocytomas and paragangliomas (PPGLs). This study aimed to investigate the clinical and genetic features of Brazilian children with PPGL.

Patients And Methods: This study included 25 children (52% girls) with PPGL.

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Introduction: The benefits of laparoscopic total nephrectomy in pediatric patients are well established. Traditional Ports placement (TPP) still follows Clayman's classic description: except for the umbilical scar, the other laparoscopic scars are exposed in the abdomen. Advances in robotic surgery permitted the development of HidES (hidden incision endoscopic surgery) technique, to obtain a better final cosmetic aspect with the scars located intraumbilically and in the hypogastric region, in an area easily hidden by underwear.

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Aim: The aim of this study is to present our experience in the management of hormonally active adrenal tumors in children.

Material And Methods: We did a retrospective chart review of all children with hormonally active adrenal tumors evaluated at the endocrinology clinic and operated at our institution between 1983 and 2019.

Results: There were 75 patients included in the study, 58 with adrenocortical tumors (ACTs) and 17 with pheochromocytomas (PCCs).

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Introduction: Prune Perineum Syndrome (PPS) is rare, with only three cases described in the literature. Treatment requires abdominal and pelvic surgeries. Our goal is to provide a video with steps of the surgical corrections of this syndrome.

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Background: Invasive Africanized honey bees potentially compete with cavity-nesting birds in South America. However, the impacts of this competition and its conservation consequences to threatened species are poorly known. We quantified the presence of these bees and assessed their competition for cliff cavities used by nesting Lear's macaws Anodorhynchus leari, a globally endangered parrot endemic to the Caatinga biome of Brazil.

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Objective: To gain insight into the causes of infertility in Prune Belly Syndrome (PBS) by evaluating reproductive system anatomy and gonadal function in a cohort of postpubertal PBS patients.

Methods: We contacted all PBS patients 14 years old or older treated and followed at our institution. Age at orchiopexy, type of orchiopexy (with or without ligation of gonadal vessels), testicular volumes and positions were evaluated.

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The synthesis of complex molecules radical reactions involving carbon-carbon and carbon-heteroatom bonds has become a very successful approach. Radical chemistry has long been dominated by the use of tin-based reagents. Those strongly contributed to the development of the field, allowing one to achieve spectacular transformations, most of which being difficult or impossible to achieve under ionic conditions, and giving access to invaluable kinetics data that paved the way for the development of improved protocols and the design of new synthetic strategies.

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Article Synopsis
  • Adrenocortical cancer is a rare and aggressive cancer, and understanding its molecular mechanisms is crucial for improving treatment options.
  • This study focused on pediatric patients with adrenocortical neoplasia in southern Brazil, particularly looking at DNA mismatch repair (MMR) gene alterations found in Lynch syndrome.
  • The research found that while MMR protein expression was normal in all tumors tested, 8.57% of patients carried a specific mutation associated with higher genetic risk for Lynch syndrome, suggesting that these pediatric patients may require closer genetic monitoring.
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