COL4A1-related brain small-vessel disease, Intracranial Cortical Calcifications

What is COL4A1 disease?
COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood.

What is the COL4A1 gene?
The COL4A1 gene provides instructions for making one component of type IV collagen, which is a flexible protein important in the structure of many tissues throughout the body. Specifically, this gene makes the alpha1(IV) chain of type IV collagen.

Patients with chronic parathyroid dysfunction often have intracranial calcification in deep gray matter (GM) and subcortical white matter

What are the symptoms of brain calcification?
Muscle cramping (dystonia), uncontrollable spasmodic irregular movements (chorea), and seizures can also occur. Occasional symptoms include sensory changes, headaches and urinary incontinence. Associated symptoms include loss of contact with reality (psychosis), mood swings and loss of acquired motor skills.

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Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,

Soft and hard tissue changes after immediate implant placement with or without a sub‐epithelial connective tissue graft: results from a 6‐months pilot randomized controlled clinical trial

alexandrossfakianakis shared this article with you from Inoreader Soft and hard tissue changes after immediate implant placement with or without a sub‐epithelial connective tissue graft: results from a 6‐months pilot randomized controlled clinical trial via Journal of Clinical Periodontology Abstract Aim The present pilot RCT aimed to investigate the influence of a connective tissue graft (CTG) in combination with the immediate implant placement (IIP) on hard and soft tissues healing, without a bone replacement graft in the gap between the implant and the socket walls. Material and Methods Thirty patients requiring extraction of one anterior tooth (from premolar to premolar) were randomly assigned to one of the two treatment groups (test: IIP+CTG; control: IIP). Cone-beam computed tomography (CBCT) and optically scans were performed before tooth extraction and at 6-months follow-up. Then, DICOM files were superimposed in order to allow the evaluation of osseous ridge and buccal bone changes, while the superimposition of DICOM and STL (Standard Tessellation Language) files allowed for evaluating of soft tissue contour. For testing the differences between the two groups, the non-parametric test as Wilcoxon rank-sum test, was used. Results Twenty-six out of the thirty enrolled patients, attended the 6-month follow-up visit. The 4 patients of control group that were lost to follow-up, were analyzed under the intention-to-treat principle. No statistically significant differences between the groups were observed for the vertical buccal bone resorption (p=0.90), as well as for the horizontal buccal bone resorption at all measured levels. Significant differences were found between test and control groups in the horizontal dimensional changes of osseous ridge at the most coronal aspect (p=0.0003 and p=0.02). Changes of tissue contour ranged between -0.32 and -0.04 mm in the test group, and between -1.94 and -1.08 mm in the control group, while changes of soft tissue thickness varied between 1.33 and 2.42 mm in the test group, and between -0.16 and 0.88 mm in the control group, with statistically significant differences for both variables at all measured levels. At 6 months, the mean volume inc rease was 6.76±8.94 mm3 and 0.16±0.42 mm3 in the test and control groups, respectively, with statistically significant difference. Conclusions The findings of the present study indicate that the adjunct of a connective tissue graft at the time of immediate implant placement, without bone grafting, does not influence vertical bone resorption. Within the limits of the present study, it can be suggested that the adjunct of a connective tissue graft at the time of immediate implant placement, without bone grafting, reduces the horizontal changes of the alveolar ridge. Moreover, it allows maintenance of the tissue contour due to an increase in soft tissue thickness. View on Web

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Lingual Frenectomy Criteria

The term free-tongue is defined as the length of tongue from the insertion of the lingual frenum into the base of the tongue to the tip of the tongue. Clinically acceptable, normal range of free tongue is greater than 16 mm. 

The ankyloglossia can be classified into 4 classes based on Kotlow's assessment as follows; 

Class I: Mild ankyloglossia: 12 to 16 mm, 

Class II: Moderate ankyloglossia: 8 to 11 mm, 

Class III: Severe ankyloglossia: 3 to 7 mm, 

Class IV: Complete ankyloglossia: Less than 3 mm.2 

Class III and IV tongue-tie category should be given special consideration because they severely restrict the tongue's movement. A normal range of motion of the tongue is indicated by the following criteria: The tip of the tongue should be able to protrude outside the mouth; without clefting, the tip of the tongue should be able to sweep the upper and lower lips easily; without straining, when the tongue is retruded, it should not blanch the tissues lingual to the anterior teeth; and the lingual frenum should not create a diastema between the mandibular central incisors.

Ankyloglossia was also found associated in cases with some rare syndromes such as X-linked cleft palate syndrome, Kindler syndrome, van der Woude syndrome, and Opitz syndrome.Nevertheless, most ankyloglossias are observed in persons without any other congenital anomalies or diseases.

The difficulties in articulation are evident for consonants and sounds like "s, z, t, d, l, j, zh, ch, th, dg" and it is especially difficult to roll an "r".

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Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,

Effectiveness of Tongue‐tie Assessment Tools in Diagnosing and Fulfilling Lingual Frenectomy Criteria: A Systematic Review

alexandrossfakianakis shared this article with you from Inoreader Effectiveness of Tongue‐tie Assessment Tools in Diagnosing and Fulfilling Lingual Frenectomy Criteria: A Systematic Review via Australian Dental Journal ABSTRACT It is unclear how effective tongue-tie classification assessment tools are in diagnosing symptomatic tongue-tie and fulfilling lingual frenectomy criteria. The purpose of this systematic review is to determine and evaluate any association between tongue-tie severity, as measured by pre-treatment assessment tools, and post-operative outcome following tongue-tie division. PubMed, EMBASE, and the Cochrane search engines were used to retrieve articles published between 1947 and 2021. Included studies consisted of patients with symptomatic tongue-tie, assessment by either the Coryllos, Kotlow, or Hazelbaker Assessment Tool for Lingual Frenulum Function (HATLFF) classification tool, and tongue-tie division. A total of 205 abstracts were identified; 31 studies met the criteria for a full-text review, of which, only 14 studies met the criteria for data extraction and analysis. Six studies used the HATLFF, 2 studies used the Kotlow, 5 studies used the Coryllos, and 1 study used a combinati on of both Kotlow and Coryllos methods. Significant heterogeneity was evident across all studies. No statistical correlation between the two variables could be determined. Although tongue-tie division procedures appear to provide benefits in breastfeeding and speech, there are no data to suggest a statistically significant association between the severity of tongue-tie, and the correct identification of patients who would benefit from tongue-tie division. © 2022 Australian Dental Association. View on Web

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Intraosseous Ameloblastic Fibro-dentinoma an aggressive demeanor in a two-year-old

alexandrossfakianakis shared this article with you from Inoreader Intraosseous Ameloblastic Fibro-dentinoma an aggressive demeanor in a two-year-old via ScienceDirect Publication: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology Publication date: Available online 18 June 2022 Source: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology Author(s): Pushkar Waknis, Supriya Kheur, Madhura Shekatkar, Kripa Gupta, Luke Kale, Mamatha Reddy View on Web

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Clinical Significance and Molecular Annotation of Cellular Morphometric Subtypes in Lower Grade Gliomas discovered by Machine Learning

alexandrossfakianakis shared this article with you from Inoreader Clinical Significance and Molecular Annotation of Cellular Morphometric Subtypes in Lower Grade Gliomas discovered by Machine Learning via Neuro-Oncology Advance Access Abstract BACKGROUND Lower grade gliomas (LGG) are heterogenous diseases by clinical, histological, and molecular criteria. We aimed to personalize the diagnosis and therapy of LGG patients by developing and validating robust cellular morphometric subtypes (CMS) and to uncover the molecular signatures underlying these subtypes. METHODS Cellular morphometric biomarkers (CMBs) were identified with artificial intelligence technique from TCGA-LGG cohort. Consensus clustering was used to define CMS. Survival analysis was performed to assess the clinical impact of CMBs and CMS. A nomogram was constructed to predict 3- and 5- year overall survival (OS) of LGG patients. Tumor mutational burden (TMB), and immune cell infiltration between subtypes were analyzed using the Mann-Whitney test. The double-blinded validation for important immunotherapy-related biomarkers were executed using immunohistochemistry (IHC). RESULTS We developed a mac hine learning pipeline to extract CMBs from whole slide images of tissue histology; identifying and externally validating robust CMS of LGGs in multi-center cohorts. The subtypes had independent predicted OS across all three independent cohorts. In the TCGA-LGG cohort, patients within the poor-prognosis subtype responded poorly to primary and follow-up therapies. LGGs within the poor-prognosis subtype were characterized by high mutational burden, high frequencies of copy number alterations, and high levels of tumor-infiltrating lymphocytes and immune checkpoint genes. Higher levels of PD-1/PD-L1/CTLA-4 were confirmed by immunohistochemical staining. In addition, the subtypes learned from LGG demonstrates translational impact on glioblastoma (GBM). CONCLUSIONS We developed and validated a framework (CMS-ML) for CMS discovery in LGG associated with specific molecular alterations, immune micro-environment, prognosis, and treatment response. View on Web

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Effect of new biological patch in repairing intrauterine adhesion and improving clinical pregnancy outcome in infertile women: study protocol for a randomized controlled trial

alexandrossfakianakis shared this article with you from Inoreader Effect of new biological patch in repairing intrauterine adhesion and improving clinical pregnancy outcome in infertile women: study protocol for a randomized controlled trial via Trials - Latest Articles Endometrial fibrosis caused by intrauterine adhesion (IUA) can lead to hypomenorrhea, amenorrhea, and even infertility and abortion. The postoperative recurrence rate of severe IUA remains high, giving rise to... View on Web

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Prevalence, outcome, and prevention of congenital cytomegalovirus infection in neonates born to women with preconception immunity (CHILd study).

alexandrossfakianakis shared this article with you from Inoreader Prevalence, outcome, and prevention of congenital cytomegalovirus infection in neonates born to women with preconception immunity (CHILd study). via Clinical Infectious Diseases Advance Access Abstract Background Human cytomegalovirus (HCMV) is the leading infectious cause of congenital disabilities. We designed a prospective study to investigate the rate, outcome and risk factors of congenital cytomegalovirus infection (cCMV) in neonates born to immune women, and the potential need and effectiveness of hygiene recommendations in this population. Methods The study (NCT03973359) was composed of 2 sequential parts: an epidemiology (Part 1) and a prevent ion (Part 2) study. Performance of Part 2 depended upon a cCMV rate > 0.4%. Women enrolled in Part 1 did not receive hygiene recommendations. Newborns were screened by HCMV DNA testing in saliva and cCMV was confirmed by urine testing. Results Saliva swabs were positive for HCMV DNA in 45/9661 newborns and cCMV was confirmed in 18 cases. The rate of cCMV was 0.19% (95% CI: 0.11-0.29%), and three out of 18 infants with cCMV had symptoms of CMV at birth. Age, nationality, occupation and contact with children were similar between mothers of infected and non-infected newborns. Twin pregnancy (OR: 7.2; 95% CI 1.7-32.2; p = 0.037) and maternal medical conditions (OR: 3.9; 95% CI: 1.5-10.1; p = 0.003) appeared associated with cCMV. Given the rate of cCMV lower than expected, the prevention part of the study was cancelled. Conclusion Newborns from women with preconception immunity have a low rate of cCMV, which appears to be mostly due to reactivation of the latent virus. Therefore, serological screening in childbearing age would be pivotal to identify HCMV-seropositive women, whose newborns have a low risk of cCMV. View on Web

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COVID-19 Severity among Women of Reproductive Age with Symptomatic Laboratory-Confirmed SARS-CoV-2 by Pregnancy Status – United States, Jan 1, 2020 – Dec 25, 2021

alexandrossfakianakis shared this article with you from Inoreader COVID-19 Severity among Women of Reproductive Age with Symptomatic Laboratory-Confirmed SARS-CoV-2 by Pregnancy Status – United States, Jan 1, 2020 – Dec 25, 2021 via Clinical Infectious Diseases Advance Access Abstract Background Information on the severity of COVID-19 attributable to the Delta variant in the United States among pregnant people is limited. We assessed the risk for severe COVID-19 by pregnancy status in the period of Delta variant predominance compared with the pre-Delta period. Methods Laboratory-confirmed SARS-CoV-2 infections among symptomatic women of reproductive age (WRA) were assessed. We calculated adjusted risk ratios for severe disease includi ng intensive care unit (ICU) admission, receipt of invasive ventilation or extracorporeal membrane oxygenation (ECMO), and death comparing the pre-Delta period (January 1, 2020 – June 26, 2021) and the Delta period (June 27, 2021 – December 25, 2021) for pregnant and nonpregnant WRA. Results Compared with the pre-Delta period, the risk of ICU admission during the Delta period was 41% higher (adjusted risk ratio [aRR] 1.41; 95% CI, 1.17-1.69) for pregnant WRA and 9% higher (aRR 1.09; 95% CI, 1.00-1.18) for nonpregnant WRA. The risk of invasive ventilation or ECMO was higher for pregnant (aRR 1.83; 95% CI, 1.26-2.65) and nonpregnant WRA (aRR 1.34; 95% CI, 1.17-1.54) in the Delta period. During the Delta period, the risk of death was 3.33 (95% CI, 2.48-4.46) times the risk in the pre-Delta period among pregnant WRA and 1.62 (95% CI, 1.49-1.77) among nonpregnant WRA. Conclusions Compared with the pre-Delta period, pregnant and nonpregnant WRA were at increased risk for severe COVID-19 in the Delta period. View on Web

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Vaccine effectiveness of CanSino (Adv5-nCoV) COVID-19 vaccine among childcare workers – Mexico, March–December 2021

alexandrossfakianakis shared this article with you from Inoreader Vaccine effectiveness of CanSino (Adv5-nCoV) COVID-19 vaccine among childcare workers – Mexico, March–December 2021 via Clinical Infectious Diseases Advance Access Abstract Background Beginning in March 2021, Mexico vaccinated childcare workers with a single-dose CanSino Biologics (Adv5-nCoV) COVID-19 vaccine. Although CanSino is currently approved for use in 10 Latin American, Asian, and European countries, little information is available about its vaccine effectiveness (VE). Methods We evaluated CanSino VE within a childcare worker cohort that included 1,408 childcare facilities. Participants were followed during March–December 2021 and tested through SARS-CoV-2 RT-PCR or rapid antigen test if they developed any symptom compatible with COVID-19. Vaccination status was obtained through worker registries. VE was calculated as 100% × (1−hazard ratio for SARS-CoV-2 infection in fully vaccinated vs. unvaccinated participants), using an Andersen-Gill model adjusted for age, sex, state, and local viral circulation. Results The cohort included 43,925 persons who were mostly (96%) femal e with a median age of 32 years; 37,646 (86%) were vaccinated with CanSino. During March–December 2021, 2,250 (5%) participants had laboratory-confirmed COVID-19, of whom 25 were hospitalized and 6 died. Adjusted VE was 20% (95% CI = 10–29%) against illness, 76% (42–90%) against hospitalization, and 94% (66–99%) against death. VE against illness declined from 48% (95% CI = 33–61) after 14–60 days following full vaccination to 20% (95% CI = 9–31) after 61–120 days. Conclusions CanSino vaccine was effective at preventing COVID-19 illness and highly effective at preventing hospitalization and death. It will be useful to further evaluate duration of protection and assess the value of booster doses to prevent COVID-19 and severe outcomes. View on Web

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Population immunity to pre-Omicron and Omicron SARS-CoV-2 variants in US states and counties through December 1, 2021

alexandrossfakianakis shared this article with you from Inoreader Population immunity to pre-Omicron and Omicron SARS-CoV-2 variants in US states and counties through December 1, 2021 via Clinical Infectious Diseases Advance Access Abstract Background Both SARS-CoV-2 infection and COVID-19 vaccination contribute to population-level immunity against SARS-CoV-2. This study estimates the immunological exposure and effective protection against future SARS-CoV-2 infection in each US state and county over 2020-2021, and how this changed with the introduction of the Omicron variant. Methods We used a Bayesian model to synthesize estimates of daily SARS-CoV-2 infections, vaccination data and estimates of the relative rates of vaccination conditional on infection status to estimate the fraction of the population with (i) immunological exposure to SARS-CoV-2 (ever infected with SARS-CoV-2 and/or received one or more doses of a COVID-19 vaccine), (ii) effective protection against infection, and (iii) effective protection against severe disease, for each US state and county from January 1, 2020, to December 1, 2021. Results The estimated percentage of the US populati on with a history of SARS-CoV-2 infection or vaccination as of December 1, 2021, was 88.2% (95% Credible Interval (CrI): 83.6%-93.5%). Accounting for waning and immune escape, effective protection against the Omicron variant on December 1, 2021, was 21.8% (95%CrI: 20.7%-23.4%) nationally and ranged between 14.4% (95%CrI: 13.2%-15.8%, West Virginia) to 26.4% (95%CrI: 25.3%-27.8%, Colorado). Effective protection against severe disease from Omicron was 61.2% (95%CrI: 59.1%-64.0%) nationally and ranged between 53.0% (95%CrI: 47.3%-60.0%, Vermont) and 65.8% (95%CrI: 64.9%-66.7%, Colorado). Conclusions While over four-fifths of the US population had prior immunological exposure to SARS-CoV-2 via vaccination or infection on December 1, 2021, only a fifth of the population was estimated to have effective protection against infection with the immune-evading Omicron variant. View on Web

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Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot

alexandrossfakianakis shared this article with you from Inoreader Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot via Journal of Human Genetics - Issue - nature.com science feeds View on Web

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