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Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare, genetically related, endocrine disorders, characterized by end-organ resistance to parathyroid hormone (PTH) action and other G protein-coupled receptors (GPCRs) related hormones. Etomoxir purchase The clinical variants of PHP are classified according to the presence of features of Albright's Hereditary Osteodystrophy (AHO) and in vivo response to exogenous PTH. Autosomal dominant PHP1b is often caused by a deletion in the Syntaxin-16 (STX16) gene, leading to a loss of methylation in the A/B exon of the guanine nucleotide-binding protein a-stimulating polypeptide (GNAS) complex. Herein, we present a case of a 41-year-old man with familiar PHP1b due to a maternal inherited 3-kb STX16 deletion, who was referred to us for consultation by artificial reproductive technology specialists.
A bibliographic search was performed in electronic databases (PubMed and Cochrane Library) to identify similar cases.
Twenty studies (case-series or reports) were eligible. These studies included collectively 120 patients; 46 patients (38.3%) presented with symptoms of hypocalcemia; 38 were asymptomatic (31.7%); data for 36 patients (30%) were unavailable. Thyroid-Stimulating hormone (TSH) resistance was documented in 25 occasions (21%); growth hormone deficiency in 2 (1.7%); 3 patients shared features of the AHO (2.5%); 6 had abnormal bone mineral density test (5%). Notable is the development of tertiary hyperparathyroidism in 3 individuals (2.5%).
The present review confirms the heterogeneity in the clinical spectrum of familiar PHP1b. Future research should focus on the molecular characterization of the GNAS disorders, leading to a facile diagnosis and appropriate genetic counseling.
The present review confirms the heterogeneity in the clinical spectrum of familiar PHP1b. Future research should focus on the molecular characterization of the GNAS disorders, leading to a facile diagnosis and appropriate genetic counseling.A wide spectrum of benign musculoskeletal (orthopedic and rheumatological) conditions affect the general population. Collectively, these are common, and they can inflict significant morbidity with resultant negative impact on the quality of life of patients. For many of these conditions, there is established evidence for research and clinical use of PETCT and MRI for assessment of disease. Introduction of integrated PET/MRI around a decade ago brought optimism that combining the strength of PET and MRI techniques on a single platform could have synergistic effect to benefit imaging assessment of patients, including in the context of benign musculoskeletal conditions. This review specifically focuses on the progress that has been made. This aims to showcase clinical studies derived primarily from the integrated PET/MRI platforms for the evaluation of common orthopedic and rheumatological conditions. Despite enthusiasm and progress by early adopters of the PET/MRI technology, significant barriers are present for its wider adoption, validation, and translation to routine clinical practice. Attenuation correction is a particular challenge which affects regions close to the skeleton and impacts PET/MRI assessment of musculoskeletal disorders. Continued effort on research and validation, as well as promotion of its multimodal multiparametric capability to clinical and pharmaceutical stakeholders, and increased availability through increased adoption of PET/MRI scanners internationally, may accelerate its translation into routine clinical practice in this domain.
Attenuation correction (AC) is an important topic in PET/MRI and particularly challenging after brain tumour surgery, near metal implants, adjacent bone and burr holes. In this study, we evaluated the performance of two MR-driven AC methods, ZTE- and atlas-AC, in comparison to reference standard CT-AC in patients with surgically treated brain tumors at 11C-Methionine PET/MRI.
This retrospective study investigated seven postoperative patients with neuropathologically confirmed brain tumour at 11C-Methionine PET/MRI. Three AC maps - ZTE-AC, atlas-AC and reference standard CT-AC - were generated for each patient. Standardised uptake values (SUV) were obtained at the metal implant, adjacent bone and burr hole. Standard uptake ratio (SUR) SURmetal/mirror, SURbone/mirror and SURburrhole/mirror were then calculated and analyzed with Bland-Altman, Pearson correlation and intraclass correlation reliability.
Smaller mean bias range % (Bland-Altman) was found for ZTE- than atlas-AC in all analyses (Metal ZTE -0.46iagnostic tool for MR-driven AC in patients with surgically treated brain tumors.
Lung damage leading to gas-exchange deficit and sepsis leading to systemic hypoperfusion are well-known features of severe pneumonia. Although frequently described in COVID-19, their prognostic impact in COVID-19-related pneumonia vs COVID-19-urelated pneumonia has never been compared. This study assesses fundamental gas-exchange and hemodynamic parameters and explores their prognostic impact in COVID-19 pneumonia and non-COVID-19 pneumonia.
We prospectively evaluated arterial pO2/FiO2, alveolar to arterial O2 gradient, shock index, and serum lactate in 126 COVID-19 pneumonia patients, aged 18- 65, presenting to the emergency department with acute, non-hypercapnic respiratory failure. As a control group we identified 11 age-, sex-, and pO2/FiO2-matched COVID-19-urelated pneumonia patients. Univariate and multivariable predictors of 30-day survival were identified in both groups.
COVID-19 patients showed lower arterial serum lactate concentration (p<0.001) and shock index (p<0.001) values as compared to non-COVID-19 patients. While we did not observe differences in lactate concentration or in shock index values in deceased vs surviving COVID-19 patients (respectively, p=0.7 and p=0.6), non-COVID-19 deceased patients showed significantly higher lactate and shock index than non-COVID-19 survivors (p<0.001 and p=0.03). The pO2/FiO2 was the most powerful determinant of survival by Cox regression multivariate analysis in COVID-19 patients (p=0.006), while it was lactate in non-COVID-19 patients (p=0.001).
As compared to COVID19-unrelated pneumonia, COVID-19 pneumonia outcome seems more strictly correlated to the extent of lung damage, rather than to the systemic circulatory and metabolic derangements typical of sepsis.
As compared to COVID19-unrelated pneumonia, COVID-19 pneumonia outcome seems more strictly correlated to the extent of lung damage, rather than to the systemic circulatory and metabolic derangements typical of sepsis.
Bacteria entering the bloodstream through oral mucosa cause bacteremia, which can lead to septic or distant infections. The underlying factors and need for dental treatment in patients referred for oral examination because of septic infection were investigated. It was expected that general diseases and poor socioeconomic status of patients would increase the risk of bacteremia.
This descriptive retrospective study included patients (N = 128) referred from medical clinics of the Helsinki University Hospital (HUH), during 2012 to 2017, to the Department of Oral and Maxillofacial Diseases due to bacteremia suspected to be of oral origin. Data were extracted from medical and dental records according to the World Health Organization International Classification of Diseases (ICD-10) for systemic or remote infections. Different groups were formed using modified Skapinakis classification for socioeconomic status (SES), from I (high) to V (low). Underlying medical conditions were retrieved according to McCabe clas and underlying diseases did not seem to link to the outcome. However, untreated dental infections present an evident risk for life-threatening septic complications also in generally healthy individuals.
To analyze the relationships between the dimension of clinical gingival recession and of the actual bone dehiscence.
Data included measurements taken before and during root coverage surgical procedures. General health, smoking status, previous orthodontic treatment, probing depth, clinical measurements taken on gingival recessions, and the exposed alveolar bone dehiscences were recorded. Data were analyzed using descriptive statistics and linear regression model.
Twenty-three patient files were available. The mean age was 31.3 ± 12.1 years (range 13 to 51 years). Eight patients had previous orthodontic treatment. Incisor, canine, and premolar recessions amounted to 9, 8, and 6 teeth, respectively. The deepest recession per patient was recorded. The mean alveolar bone dehiscence depth was 6.78 ± 1.2 mm (range 5 to 9 mm). Patient-related or systemic findings, preceding orthodontic treatment, and tooth type were not correlated with alveolar bone dehiscence dimensions. A significant association was found beon and that of alveolar bone dehiscence. In addition, the ratio between the clinical recession depth and width was significantly associated with the depth of the bone dehiscence. Clinical recession depth and width dimensions may serve as an assessment predictor for the underling bone dehiscence magnitude.Bacterial biofilm in the oral cavity and around dental implants may trigger an inflammatory response of the peri-implant soft tissue. Emerging antimicrobial products have been developed to combat peri-implant soft tissue pathology; however, limited evidence is available evaluating their effectiveness. To the best of the authors' knowledge, this is the first documented case report in the literature assessing the effect of Cervitec Plus around dental implants. This case report provides an example of a patient presenting to a periodontal specialty clinic with peri-implant pathology and subsequently treated with antimicrobial varnish following dental hygiene peri-implant therapy. The report serves to evaluate the efficacy of peri-implant soft tissue pathology utilizing antimicrobial varnish as measured by percent of bleeding upon probing, presence of suppuration, and changes in implant probing depths. Understanding the impact of bacterial plaque on peri-implant soft tissue and the effectiveness of antimicrobial products in conjunction with dental hygiene peri-implant therapy may provide patients with optimal peri-implant health and long-term success of dental implants.
The study aimed to evaluate healing in apicomarginal defects with amniotic membrane (AM) using 2D periapical radiography and 3D cone beam computed tomography imaging.
Thirty-four patients with symptomatic apical periodontitis and apicomarginal communication were allocated to either the AM or control group. Clinical and radiographic assessment was performed at baseline and at 12 months using Molven criteria, modified Penn 3D criteria, and RAC and B indices at resected plane, apical area, cortical plate, and combined apicocortical area, respectively.
There was no significant difference in the healing outcome in 2D imaging (93.3% control and 86.7% AM) and 3D imaging (80.0% control and 53.3% AM) between the groups. With RAC scoring, a greater percentage of unhealed cases was observed in cortical plate. Radiographic buccal bone formation in the 3D imaging was evident only in six cases. However, both the groups depicted significantly greater percentage reduction in the size of the lesion in 2D than the 3D analysis (AM group 91.
