Search results for "Pathologic"

A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature

2014

Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histo - pathological laboratory tests and a review of the literature. Study Design: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A pan - oramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism. Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents. Both siblings had been clinically diagnosed with cherubism; however, the parents we…

Expression of p53 Protein and Tumor Angiogenesis as Prognostic Factors in Nasopharyngeal Carcinoma Patients.

2002

The objective of this study was to evaluate the possible prognostic significance of p53 protein overexpression and tumor angiogenesis (TA) in nasopharyngeal carcinoma (NPC) patients, together with other clinicopathological variables. Forty-two NPC patients were evaluated in relation to survival. Nuclear p53 overexpression in neoplastic and endothelial cells was detected by immunohistochemistry (IHC) with the monoclonal antibody DO-7 and the polyclonal antibody against factor VIII-related antigen, respectively. Thereafter, we evaluated p53 cases in order to determine their nuclear immunoreactivity from negative (-) to positive (+, ++, +++). In addition, microvessels were counted in the most …

Psychogenic nonepileptic seizures in pediatric population: A review

2019

Abstract Introduction Psychogenic nonepileptic seizures (PNES) are observable abrupt paroxysmal changes in behavior or consciousness that resemble epileptic seizures, but without concurrent electroencephalographic abnormalities. Methods In this manuscript, we reviewed literature concerning pediatric PNES and focused on those articles published in the last 10 years, in order to try to understand what the state of the art is at the moment, particularly as regards relationship and differential diagnosis with epilepsy. Results Psychogenic nonepileptic seizures have been extensively described in literature mainly in adults and less frequently in children. Despite the potential negative impact of…

Blueberry Muffin Baby Associated with Bone Demineralization Due to Congenital Transient Neonatal Hyperparathyroidism

2014

Comparative Analysis of Chromatin-Delivered Biomarkers in the Monitoring of Sepsis and Septic Shock: A Pilot Study

2021

Sepsis management remains one of the most important challenges in modern clinical practice. Rapid progression from sepsis to septic shock is practically unpredictable, hence the critical need for sepsis biomarkers that can help clinicians in the management of patients to reduce the probability of a fatal outcome. Circulating nucleoproteins released during the inflammatory response to infection, including neutrophil extracellular traps, nucleosomes, and histones, and nuclear proteins like HMGB1, have been proposed as markers of disease progression since they are related to inflammation, oxidative stress, endothelial damage, and impairment of the coagulation response, among other pathological…

Angiogenesis and vascular network of teratocarcinoma from embryonic stem cell transplant into seminiferous tubules

2009

Background: Carcinoma in situ (CIS) of the testis is considered to be a precancerous germinal cell lesion, but the precise cellular and molecular mechanisms underlying transformation of CIS into invasive pluripotent cancer cells remain to be elucidated. Moreover, a satisfactory animal model for the experimental study of germinal tumours has not been developed to date. METHODS: We have developed a tumour model that involves the microinjection of green fluorescent protein-labelled embryonic stem (ES) cells (which are functionally equivalent to CIS cells) into syngenic mouse seminiferous tubules, a unique cell microenvironment in which germinal cells mature and CIS arise. To characterise the v…

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant

2020

Abstract Background To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant disorders: FHM1 (Familial Hemiplegic Migraine), EA2 (Episodic Ataxia type 2), and SCA6 (Spinocerebellar Ataxia type 6). Overlapping clinical features within individuals of some families sharing the same CACNA1A mutation are not infrequent. Conversely, reports with distinct phenotypes within the same family associated with a common CACNA1A mutation are very rare. Case presentation A clinical, molecular, neuroradiological, neuropsy…

Relationship between PTH and PSA Values in Patients with Pathological Finding of Benign Prostatic Hyperplasia

2012

The functional relationship between parathyroid glands and prostatic gland is commonly very well known. The aim of our study was to investigate the relationship between serum levels of PTH and serum levels of PSA in patients with pathological finding of BPH. According to 261 transrectal ultrasound-guided prostatic biopsies performed from March 2009 to March 2010, 75 patients, responding to our inclusion criteria, were selected. 26 patients (34.6%) ended the study. All patients with high serum levels of PSA (>4 ng/mL), with histological diagnosis of benign prostatic hyperplasia, underwent the assay of serum levels of PTH. We observed high levels of PTH (> 66 pg/mL) in 9 patients (35.2…

Supracoronary ascending aortic replacement in patients with acute aortic dissection type A: What happens to the aortic root in the long run?

2013

ObjectiveOur objective was to determine long-term outcome predictors for patients with acute aortic dissection type A (AADA) and aortic root involvement.MethodsFrom 2001 through 2009, 119 of 152 patients operated on for AADA at a tertiary medical center underwent supracoronary ascending aortic replacement (52 women; mean age, 61 ± 15 years). Those with at least 1-year follow-up (n = 97) were retrospectively assessed for preoperative aortic root disease. Follow-up data were assessed for evidence of new-onset aortic root disease by computed tomography and echocardiography, and for reoperation for aortic root disease.ResultsMedian follow-up was 33.8 months (range, 0-112 months). Twenty-six (27…

Long-Term Follow-Up of Repeat Endoscopic Third Ventriculostomy in Obstructive Hydrocephalus.

2017

Endoscopic third ventriculostomy (ETV) is a safe and less-invasive treatment strategy for patients with obstructive hydrocephalus and provides excellent outcome. Nevertheless, repeat ETV in cases of ETV failure is a controversial issue.Between 1993 and 1999, 113 patients underwent a total of 126 ETVs at the Department of Neurosurgery, Mainz University Hospital. Obstructive hydrocephalus was the causative pathology in all cases. A very long-term follow-up of up to 16 years could be achieved. All medical reports of patients who received ETV were reviewed and analyzed with focus on ETV failure with following repeat ETV and its initial as well as very long-term success.Thirty-one events of ETV …