scholarly journals Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling

2021 ◽  
Author(s):  
Dhanya Lakshmi Narayanan ◽  
Divya Udyawar ◽  
Parneet Kaur ◽  
Suvasini Sharma ◽  
Narayanaswamy Suresh ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Genetic Counselling ◽  
Risk Estimation ◽  
Risk Of Recurrence ◽  
Genomic Variations ◽  
Mendelian Disorders ◽  
Clinical Geneticist ◽  
Age Dependent ◽  
Inbred Populations

AbstractMultilocus disease-causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognised in individuals and families with Mendelian disorders. This can be mainly attributed to the widespread use of genomic tests for the evaluation of these disorders. We conducted a retrospective study of families evaluated over the last 6 years at our centre to identify families with MGVs and MGDs. MGVs were observed in fourteen families. We observed five different consequences: (i) individuals with MGVs presenting as blended phenotypes (ii) individuals with MGVs presenting with distinct phenotypes (iii) individuals with MGVs with age-dependent penetrance (iv) individuals with MGVs with one phenotype obscured by another more predominant phenotype (v) two distinct phenotypes in different individuals in families with MGVs. Consanguinity was present in eight (8/14, 57.1%) of them. Thirteen families had two Mendelian disorders and one had three Mendelian disorders. The risk of recurrence of one or more conditions in these families ranged from 25% to 75%. Our findings underline the importance of the role of a clinical geneticist in systematic phenotyping, challenges in genetic counselling and risk estimation in families with MGVs and MGDs, especially in highly inbred populations.

scholarly journals Role of MSCT in the diagnosis of perforated gall bladder (a retrospective study)

2020 ◽  
Vol 51 (1) ◽  
Author(s):  
Mohamed M. Harraz ◽  
Ahmed H. Abouissa
Keyword(s):  
Computed Tomography ◽  
Retrospective Study ◽  
Gall Bladder ◽  
Acute Cholecystitis ◽  
Acute Diverticulitis ◽  
Wall Thickening ◽  
Free Fluid ◽  
Iodinated Contrast ◽  
Contrast Enhanced

Abstract Background Although gall bladder perforation (GBP) is not common, it is considered a life-threating condition, and the possibility of occurrence in cases of acute cholecystitis must be considered. The aim of this study was to assess the role of multi-slice computed tomography (MSCT) in the assessment of GBP. Results It is a retrospective study including 19 patients that had GBP out of 147, there were 11 females (57.8%) and 8 males (42.1%), aged 42 to 79 year (mean age 60) presented with acute abdomen or acute cholecystitis. All patients were examined with abdominal ultrasonography and contrast-enhanced abdominal MSCT after written informed consent was obtained from the patients. This study was between January and December 2018. Patients with contraindications to contrast-enhanced computed tomography (CT) (pregnancy, acute kidney failure, or allergy to iodinated contrast agents) who underwent US only were excluded. Patients with other diagnoses, such as acute diverticulitis of the right-sided colon or acute appendicitis, were excluded. The radiological findings were evaluated such as GB distention; stones; wall thickening, enhancement, and defect; pericholecystic free fluid or collection; enhancement of liver parenchyma; and air in the wall or lumen. All CT findings are compared with the surgical results. Our results revealed that the most important and diagnostic MSCT finding in GBP is a mural defect. Nineteen patients were proved surgically to have GBP. Conclusion GBP is a rare but very serious condition and should be diagnosed and treated as soon as possible to decrease morbidity and mortality. The most accurate diagnostic tool is the CT, MSCT findings most specific and sensitive for the detection of GBP and its complications.

The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders

2021 ◽  
Author(s):  
Avi Fellner ◽  
Noa Ruhrman-Shahar ◽  
Naama Orenstein ◽  
Gabriel Lidzbarsky ◽  
Alan R. Shuldiner ◽  
...  
Keyword(s):  
Mendelian Disorders ◽  
Online Databases

scholarly journals Rough Dental Implant Surfaces and Peri-Implantitis: Role of Phase-Contrast Microscopy, Laser Protocols, and Modified Home Oral Hygiene in Maintenance. A 10-Year Retrospective Study

2021 ◽  
Vol 11 (11) ◽  
pp. 4985
Author(s):  
Gianluigi Caccianiga ◽  
Gérard Rey ◽  
Paolo Caccianiga ◽  
Alessandro Leonida ◽  
Marco Baldoni ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Phase Contrast ◽  
Vertical Movement ◽  
Subgingival Plaque ◽  
Phase Contrast Microscopy ◽  
Implant Surface ◽  
Total Percentage ◽  
Contrast Microscopy

The aim of this study was to evaluate two different kinds of rough implant surface and to assess their tendency to peri-implantitis disease, with a follow-up of more than 10 years. Data were obtained from a cluster of 500 implants with Ti-Unite surface and 1000 implants with Ossean surface, with a minimum follow-up of 10 years. Implants had been inserted both in pristine bone and regenerated bone. We registered incidence of peri-implantitis and other causes of implant loss. All patients agreed with the following maintenance protocol: sonic brush with vertical movement (Broxo), interdental brushes, and oral irrigators (Broxo) at least two times every day. For all patients with implants, we evaluated subgingival plaque samples by phase-contrast microscopy every 4 months for a period of more than 10-years. Ti-Unite surface implants underwent peri-implantitis in 1.6% of the total number of implants inserted and Ossean surface implants showed peri-implantitis in 1.5% of the total number of implants. The total percentage of implant lost was 4% for Ti-Unite surfaces and 3.6% for Ossean surfaces. Strict control of implants leads to low percentage of peri-implantitis even for rough surfaces dental implants.

scholarly journals Role of Multiple Comorbidities and Therapies in Conditioning the Clinical Severity of DRESS: A Mono-Center Retrospective Study of 25 Cases

2021 ◽  
Vol 22 (13) ◽  
pp. 7072
Author(s):  
Andrea Toniato ◽  
Chiara Gamba ◽  
Jan Walter Schroeder ◽  
Valeria Fabbri ◽  
Scarlett Valeria Bernal Ortiz ◽  
...  
Keyword(s):  
Risk Factors ◽  
Drug Reaction ◽  
Retrospective Study ◽  
Clinical Severity ◽  
Severe Reaction ◽  
Skin Involvement ◽  
Inflammatory State ◽  
Reaction Severity ◽  
Clinical Conditions

DRESS/DiHS is a complex and potentially fatal drug reaction. Little is known about risk factors and elements that can help to identify patients with a severe reaction early. The aim of the study was to investigate those factors favoring the disease and its severity by analyzing the clinical conditions and therapies preceding the reaction. We conducted a retrospective analysis on patients admitted to our center between 2010 and 2020 who were discharged with a diagnosis of DRESS. We used the RegiSCAR diagnostic criteria. We defined the severity of DRESS using the criteria of Mizukawa et al. We included 25 patients (15 females) with a median age of 66 years. Skin involvement, eosinophilia, and liver injury were the most important aspects. Allopurinol was found to be the most involved drug. Reaction severity was significantly associated with the number of daily medications (p=0.0067) and an age of at least 68 years (p=0.013). In addition, 75% of severe cases had at least three comorbidities in history, and most of the severe cases were female. In our study the advanced age, the high number of comorbidities and home therapies, and the inflammatory state were found to be predisposing elements to the development of the disease and its severity.

scholarly journals Effects of COVID-19 Lockdown on Otitis Media With Effusion in Children: Future Therapeutic Implications

2021 ◽  
pp. 019459982098745
Author(s):  
Mirko Aldè ◽  
Federica Di Berardino ◽  
Paola Marchisio ◽  
Giovanna Cantarella ◽  
Umberto Ambrosetti ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Otitis Media ◽  
Outpatient Clinic ◽  
Otitis Media With Effusion ◽  
Tertiary Level ◽  
Vestibular Disorders ◽  
Therapeutic Implications ◽  
History Of ◽  
Clinic Population

Objective To evaluate the role of social isolation during the lockdown due to the SARS-CoV-2 outbreak (severe acute respiratory syndrome coronavirus 2) in modifying the prevalence of otitis media with effusion (OME) and the natural history of chronic OME. Study Design Retrospective study. Setting Tertiary level referral audiologic center. Methods We assessed the prevalence of OME among children aged 6 months to 12 years who attended the outpatient clinic for hearing or vestibular disorders during 2 periods before the lockdown, May-June 2019 (n = 350) and January-February 2020 (n = 366), and the period immediately after the lockdown, May-June 2020 (n = 216). We also compared the disease resolution rates between a subgroup of children with chronic OME (n = 30) who were diagnosed in summer 2019 and reevaluated in May-June 2020 and a similar subgroup (n = 29) assessed in 2018-2019. Results The prevalence of OME in this clinic population was 40.6% in May-June 2019, 52.2% in January-February 2020, and 2.3% in May-June 2020. Children with chronic OME had a higher rate of disease resolution in May-June 2020 (93.3%) than those examined in May-June 2019 (20.7%, P < .001). Conclusion Closure of schools and the physical distancing rules were correlated with a reduction in the prevalence of OME and favored the resolution of its chronic forms among children who attended the outpatient clinic. These data could suggest that in the presence of chronic OME, keeping young children out of group care settings for a period might be beneficial to allow for OME resolution.

scholarly journals Chloroplast Hsp70 Isoform Is Required for Age-Dependent Tissue Preference of Bamboo mosaic virus in Mature Nicotiana benthamiana Leaves

2017 ◽  
Vol 30 (8) ◽  
pp. 631-645 ◽  
Author(s):  
Ying Wen Huang ◽  
Chung Chi Hu ◽  
Ching Hsiu Tsai ◽  
Na Sheng Lin ◽  
Yau Heiu Hsu
Keyword(s):  
Mosaic Virus ◽  
Nicotiana Benthamiana ◽  
Transit Peptide ◽  
Plant Viruses ◽  
Age Dependent ◽  
Efficient Replication ◽  
Underlying Mechanisms ◽  
Lines Of Evidence ◽  
Suitable Environment

Plant viruses may exhibit age-dependent tissue preference in their hosts but the underlying mechanisms are not well understood. In this study, we provide several lines of evidence to reveal the determining role of a protein of the Nicotiana benthamiana chloroplast Hsp70 (NbcpHsp70) family, NbcpHsp70-2, involved in the preference of Bamboo mosaic virus (BaMV) to infect older tissues. NbcpHsp70 family proteins were identified in complexes pulled down with BaMV replicase as the bait. Among the isoforms of NbcpHsp70, only the specific silencing of NbcpHsp70-2 resulted in the significant decrease of BaMV RNA in N. benthamiana protopalsts, indicating that NbcpHsp70-2 is involved in the efficient replication of BaMV RNA. We further identified the age-dependent import regulation signal contained in the transit peptide of NbcpHsp70-2. Deletion, overexpression, and substitution experiments revealed that the signal in the transit peptide of NbcpHsp70-2 is crucial for both the import of NbcpHsp70-2 into older chloroplasts and the preference of BaMV for infecting older leaves of N. benthamiana. Together, these data demonstrated that BaMV may exploit a cellular age-dependent transportation mechanism to target a suitable environment for viral replication.

scholarly journals AB0407 CARDIOVASCULAR BURDEN IN SYSTEMIC SCLEROSIS: QRISK3 VERSUS FRAMINGHAM FOR RISK ESTIMATION

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1232.1-1232
Author(s):  
M. Di Battista ◽  
S. Barsotti ◽  
A. Della Rossa ◽  
M. Mosca
Keyword(s):  
Risk Factors ◽  
Myocardial Infarction ◽  
Systemic Sclerosis ◽  
High Risk ◽  
General Population ◽  
Risk Score ◽  
Predictive Accuracy ◽  
Risk Estimation ◽  
Cross Sectional

Background:Cardiovascular (CV) diseases, namely myocardial infarction and stroke, are not among the most known and frequent complications of systemic sclerosis (SSc), but there is growing evidence that SSc patients have a higher prevalence of CV diseases than the general population [1].Objectives:To compare two algorithms for CV risk estimation in a cohort of patients with SSc, finding any correlation with clinical characteristics of the disease.Methods:SSc patients without previous myocardial infarction or stroke were enrolled. Traditional CV risk factors, SSc-specific characteristics and ongoing therapies were assessed. Framingham and QRISK3 algorithms were then used to estimate the risk of develop a CV disease over the next 10 years.Results:Fifty-six SSc patients were enrolled. Framingham reported a median risk score of 9.6% (IQR 8.5), classifying 24 (42.9%) subjects at high risk, with a two-fold increase of the mean relative risk in comparison to general population. QRISK3 showed a median risk score of 15.8% (IQR 19.4), with 36 (64.3%) patients considered at high-risk. Both algorithms revealed a significant role of some traditional risk factors and a noteworthy potential protective role of endothelin receptor antagonists (p=0.003). QRISK3 was also significantly influenced by some SSc-specific characteristics, as limited cutaneous subset (p=0.01), interstitial lung disease (p=0.04) and non-ischemic heart involvement (p=0.03), with the first two that maintain statistically significance in the multivariate analysis (p=0.02 for both).Conclusion:QRISK3 classifies more SSc patients at high-risk to develop CV diseases than Framingham, and it seems to be influenced by some SSc-specific characteristics. If its predictive accuracy were prospectively verified, the use of QRISK3 as a tool in the early detection of SSc patients at high CV risk should be recommended.References:[1]Ngian GS, Sahhar J, Proudman SM, Stevens W, Wicks IP, Van Doornum S. Prevalence of coronary heart disease and cardiovascular risk factors in a national cross-sectional cohort study of systemic sclerosis. Ann Rheum Dis. 2012;71:1980-3.Disclosure of Interests:None declared

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