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Letter to the Editor: Outcomes of minimally invasive aortic valve replacement inpatie...
Akhil Raj Anumolu
Sowkhya Panakala

Akhil Raj Anumolu

and 2 more

April 18, 2022
A document by Akhil Raj Anumolu. Click on the document to view its contents.
Virtual reality in cardiac interventions -- New tools or new toys?
Simon Suendermann
Anja Hennemuth

Simon Sündermann

and 2 more

April 18, 2022
Improvements in medical imaging and a steady increase in computing power are leading to new possibilities in the field of cardiovascular interventions. Interventions can be planned in advance in greater detail, even to the point of simulating procedures. Nevertheless, all techniques are at an early stage of development. It is of utmost importance that tools, especially if they can be used as decision support are intensively validated and their accuracy is demonstrated. In our commentary, we summarize current techniques for guiding improvement planning, but also critically discuss the downsides of these techniques. Following the work of Kenichi and colleagues, we also discuss necessary steps in advancing new tools and techniques, particularly as they are used in routine clinical practice. We also discuss the role of artificial intelligence, which could play a crucial role in this context in the future.
PREVALENCE OF ANTI-HLA ANTIBODIES IN HAPLOIDENTICAL HEMATOPOIETIC STEM CELL TRANSPLAN...
MUHAMMAD  AMEEN
Sadia Khan

MUHAMMAD AMEEN

and 7 more

April 18, 2022
Allogeneic hematopoietic cell transplantation (HCT) remains the curative treatment of many patients with relapsed and refractory hematologic malignancies, and some non-malignant conditions. For patients with no matched donors, haplo-identical donors have been used successfully over the last decade. Some donors may have antibodies directed against the recipient’s HLA antigens often referred to as donor-specific antibodies (DSAs). The use of stem cells from such donors may increase the risk of primary graft failure. In order to determine if the presence of human leukocyte antigen (HLA) donor-specific antibodies (DSA) at the time of HCT increases the risk of primary graft failure in HLA haploidentical transplantation, we reviewed the presence of anti-HLA antibodies and DSA before transplantation in the first 100 consecutive HLA haploidentical transplant in pediatric patients at our centre. Solid phase antibody assays were used for testing. Results showed HLA antibodies were detected in 50/100 (50%) of the patients. Of the 50 sensitized patients twenty (n=20) had DSA. Twelve (n=12) of the 20 patients with DSA had cumulative mean fluorescent index (MFI) <2000 and underwent transplant without desensitization and all were engrafted. Whereas eight patients had MFI >2000 MFI. Four among these underwent desensitization and all of them achieved engrftment.. Two of the four patients with positive DSA and no desensatization developed graft rejection and the other two patient engrafted.
Evaluation of Financial Conflicts of Interest and Quality of Evidence underlying Japa...
Keishi Miyazawa
Anju Murayama

Keishi Miyazawa

and 2 more

April 18, 2022
Objective: To evaluate the financial and non-financial conflicts of interest (COI) among authors of Clinical Practice Guideline for Obstetrics 2020 (OBCPG) and Clinical Practice Guideline for Outpatient Gynecology 2020 (GYNCPG), relationship between quality of evidence and strength of recommendations, and COI policies. Design: Cross-sectional study Setting & Populations: All 103 guideline authors of OBCPG and GYNCPG published by Japan Society of Obstetrics and Gynecology (JSOG) in 2020. Methods: Descriptive analysis and multivariate negative binomial regression analysis. Main Outcome Measures: Personal payment data from 92 major pharmaceutical companies to the OBCPG and GYNCPG authors between 2016 and 2019; and quality of evidence and strength of recommendations underlying the guideline. Results: The 66.0% of the authors received personal payments of $1,174,508 in total from 60 pharmaceutical companies between 2016 and 2019. The four-year combined average payment per author was $11,403 (standard deviation: $22,056) and the median was $2,010 (interquartile range: $0‒$8,902). For analysis of references and recommendation, a total of 50.2% of references were low quality of evidence. Only 21.4% of references were high quality of evidence. Conclusions: This study found that the 66.0% of Japanese obstetric and gynecologic CPG authors received personal payments at least once during the CPG development period. 50.2% of evidence supporting Japanese obstetric and gynecologic CPG were low quality of evidence. There were no sufficient COI policies in JSOG, as well as ACOG, comparing to the global standard COI policies for CPG development. Funding: This study was funded in part by the Medical Governance Research Institute.
Adjustable Multi-band and Multi-load Wireless Power Transfer System Based on Frequenc...
Nenghong Xia
Jialiang Lin

Nenghong Xia

and 4 more

April 18, 2022
In magnetically coupled resonant wireless power transfer system, when two or more coils work under over-coupling, the original resonant frequency will split, thereby reducing the power transfer efficiency. For multi-load systems with different operating frequencies, a packetized multi-frequency wireless charging method based on frequency splitting is proposed. Two adjustment modes, axial and lateral, are designed for the adjustment coil. By adjusting the coupling coefficient, it is possible to switch different groups of loads for charging. The experimental results confirm that the two load coils receive 1.2W and 1.4W of power, respectively, when the proposed system is input with a DC voltage of 10V.
An integrated approach to developing an anthrax-free model area in Bangladesh
Md Shahjahan Sarker
Md. Ahosanul Haque  Shahid

Md Shahjahan Sarker

and 7 more

April 17, 2022
An integrated approach was sought to establish an anthrax-free model, where there will be no anthrax in an anthrax-prone area of Bangladesh. The integrated approach included regular vaccination, increased public awareness, rapid confirmation, and prompt disposal, setting up an effective surveillance system, developing an emergency prevention system, enforcing regulations, and enhancing veterinary services’ collaboration. Before the research work, a study area reported anthrax in cattle or humans almost every one or two years. The location remains Jamtoil village in Kamarkhanda Upazila of Sirajganj district located between 24°18’ and 24°27’ north latitudes and amidst 89°35’ and 89°42’ east longitudes. Numerous interventions that included both social and laboratory work were implemented from 2017 to 2020. After rigorously implementing the study works, it showed that most community members (97.5%) were aware of the nature, occurrence, public health importance, and management of the disease. The risky habits and attitudes of the farmers toward the slaughtering of sick cattle reduced significantly (<85%). Vaccination coverage expanded from 40 to 85%, and the percentage of farmers who can presumptively diagnose anthrax by its notable clinical findings has increased from 30% to 85%. A PCR-based confirmation protocol was applied. Soil samples were collected to examine the pathogenic spores of Bacillus anthracis, and researchers developed a map so that the farmers in the area would be more cautious about grazing their cattle. A steering committee was formed with the administration, law enforcement agency, local government, livestock, health department, and political elites. This committee periodically reviewed the progress of research work. At the beginning of the investigation, the score was 18, but after implementing research interventions, it increased to 100 out of 120. The locals set up a slaughterhouse in that region, and people slaughtered their animals after examining their animals by qualified veterinarians. As a result of all these works, the model area has been free of anthrax infection for four years. The research finding concluded that the integrated approach is an efficient, effective, and suitable method to establish an anthrax-free model area where there will be no anthrax outbreak.
Diabetics on Long-term Care    
S M Nazmuz Sakib

S M Nazmuz Sakib

April 18, 2022
Diabetics on Long-term Care1S M Nazmuz Sakib (Orchid- https://orcid.org/0000-0001-9310-3014) (sakibpedia@gmail.com)1 Graduate of BSc in Business StudiesSchool of Business And TradePilatusstrasse 6003, 6003 Luzern, Switzerland1 Student of BSc in Civil EngineeringFaculty of Science and EngineeringSonargaon University147/I, Green Road, Panthapath, Dhaka1 Student of LLB(Hon’s)Faculty of LawDhaka International UniversityHouse # 4, Road # 1, Block - F, Dhaka 12131 Student of BSc in PhysiotherapyFaculty of MedicineUniversity of DhakaNilkhet Rd, Dhaka 1000
Ecological and Biophysical Characterization of a Reclaimed Forest over Degraded Land...
Dharmendra Singh
Krishma Nanda

Dharmendra Singh

and 3 more

April 17, 2022
Forests play an important role in land management and environmental sustainability via their ecological and biophysical characteristics. These characteristics were assessed in a reclaimed forest developed over saline, barren wasteland well known as Saraswati Wildlife Sanctuary (SWS) to understand its ecological development, future threats, and potential environmental benefits. We computed tree community characteristics such as density, basal area, diversity, and species composition using a tree dataset from 36 plots of 0.1 ha. A total of 1,711 individuals of 8 families, 10 genera, and 12 species were recorded. Myrtaceae, Fabaceae, and Moraceae families were found dominating in the area. Prosopis juliflora showed the highest (142.50) Importance Value Index (IVI). The tree density varied from 435 ha –1 to 767 ha –1. Shannon–Weiner Index (H’), Simpson’s Diversity Index, Margalef Index, and Evenness Index, were recorded as 1.39, 0.68, 1.48, and 0.56 respectively. The average total biomass and carbon stock were estimated to be 344.3 tonnes/ha and 161.8 tonnes/ha. The total biomass of forest was 14,88,674 tons and carbon stock 6,99,677 tons in 2020. A total of 279 ha of forest blanks were identified using Sentinel-2 satellite data showing the existing potential of afforestation. Observations indicated that the system is of less diversity, early aged, and at anthropogenic/pathogenic risk due to its evenness and monospecific nature, and requires exhaustive mixed plantation with suitable species over open/blank areas immediately. We learn that the strategic planning of reclamation through afforestation in a semi-arid environment with similar conditions must focus on a complex community.
Pregnancy outcomes in Italy during COVID-19 pandemic: a population-based cohort study...
Franca Rusconi
Monia Puglia

Franca Rusconi

and 22 more

April 17, 2022
Objective. To compare the estimates of preterm birth (PTB; 22-36 weeks gestational age, GA) and stillbirth rates during COVID-19 pandemic in Italy with those recorded in the three previous years. Design. A population-based cohort study of liveborn and stillborn infants was conducted using data from Regional Health Systems and comparing the pandemic period (March 1st, 2020-March 31st, 2021, N= 362,129) to an historical period (January 2017- February 2020, N=1,117,172). The cohort covered 84.3% of the births in Italy. Methods. Logistic regressions were run in each Region and meta-analyses were performed centrally. We used an interrupted time series regression analysis to study the trend of preterm births from 2017 to 2021. Main Outcome Measures. The primary outcomes were PTB and stillbirths. Secondary outcomes were late PTB (32-36 weeks’ GA), very PTB (<32 weeks’ GA), and extreme PTB (<28 weeks’ GA), overall and stratified into singleton and multiples. Results. The pandemic period compared with the historical one was associated with a reduced risk for PTB (Odds Ratio: 0.90; 95% Confidence Interval, CI: 0.87, 0.93), late PTB (0.91; 0.87, 0.94), very PTB (0.87; 0.84, 0.91), and extreme PTB (0.88; 0.82, 0.94). In multiples, point estimates were not very different, but had wider CIs. No association was found for stillbirths (1.01; 0.90, 1.13). A linear decreasing trend in PTB rate was present in the historical period, with a further reduction after the lockdown. Conclusions We demonstrated a decrease in PTB rate after the introduction of COVID-19 restriction measures, without an increase in stillbirths.
A rare gynaecological neoplastic mimic; vulval pemphigus vulgaris.
Patrick Black
Aishwarya Khanna

Patrick Black

and 3 more

April 17, 2022
A document by Patrick Black. Click on the document to view its contents.
Optical coherence tomography with higher specificity than Papanicolaou cytology in pa...
Xiao Xiao
Lei Yan

Xiao Xiao

and 5 more

April 17, 2022
Objective To assess triage of HPV-positive women by optical coherence tomography (OCT), with or without HPV16/18 genotyping, compare with cytology. Design A prospective cohort study. Setting The Second Xiangya Hospital in China. Population 813 participants with high-risk HPV(hrHPV)-positive and cervical cytology results received OCT before colposcopy between 1 March 2021 and 1 October 2021. Methods OCT examinations were performed on an outpatient basis. Cytological and histological results during follow-up were obtained from the Department of Pathology at the Second Xiangya Hospital. Main outcome measures OCT and cytology results were compared with the pathological results to calculate sensitivity, specificity, and immediate CIN3+ risk. The advantages and disadvantages of OCT and cytology triage of hr-HPV-positive women were compared. Results HPV16/18 genotyping with OCT triage has a specificity of CIN3+ lesions [61.1%; 95% CI, 57.6%-64.6%], CIN2+ [66.0%; 95% CI, 62.4%-69.6%]. HPV16/18 genotyping with cytology triage has a specificity of CIN3+[44.0%; 95% CI, 40.4%-47.6%], CIN2+ [47.0%; 95% CI, 43.2%-50.8%]. The OCT triage has a higher specificity and positive predictive value(PPV) compared to the cytology with a significant difference. The OCT triage has a similar immediate CIN3+ risk compared to the cytology. Conclusion The combination of OCT and HPV triage (both genotyping and non-genotyping) is feasible in terms of immediate CIN2+/CIN3+ risk, and the OCT triage strategy reduces the number of colposcopies and improves the specificity and positive predictive value of the test compared to the cytological triage strategy.
Summations of Single Terms and Successive Terms of Geometric Series
Chinnaraji Annamalai

Chinnaraji Annamalai

April 18, 2022
This paper presents the summations of separate terms and successive terms of geometric series. This will be useful for the researchers who are involving to solve the scientific problems. MSC Classification codes: 40A05 (65B10)
The Diagnostic and Therapeutic Prospects of Exosomes in Ovarian Cancer
qianrun Chen
Jiayan Shi

qianrun Chen

and 3 more

April 17, 2022
Exosomes are nano-sized vesicles derived from the endosomal system and involved in multitudinous biological and pathological processes. Emerging evidence has demonstrated that exosomes are closely related to the tumorigenesis and progression of ovarian cancer. Ovarian cancer-related exosomes have cell-specific constituents that could be leveraged for diagnosis. Additionally, exosomes are promising to treat ovarian cancer through functioning as delivery systems or participating in immunotherapy or serving as direct targets. In this review, we discussed the association of exosomes in ovarian cancer progression and look forward to the clinical significance of exosomes relevant to diagnosis and treatment.
Gabapentin utilization among older adults with different cognitive statuses enrolled...
GYeon Oh
Daniela Moga

GYeon Oh

and 2 more

April 16, 2022
This study aimed to examine gabapentin utilization trends among older adults with different cognitive statuses and investigate concurrent medication use of potentially inappropriate medications. Data were extracted from National Alzheimer’s Coordinating Center Uniform Data Set (2006-2019). We estimated the yearly prevalence of gabapentin use, both overall and within subgroups defined by cognitive status [normal, mild cognitive impairment, and dementia] and demographics [age and sex] for participants aged 65+. Additionally, we assessed the prevalence of concurrent use of gabapentin with opioids, combined opioids and benzodiazepine, antidepressant, and antipsychotic. Participants reported gabapentin use increased from 2006 to 2019 in both overall and every participant subgroup. About 10-30% of gabapentin users reported to concurrently use of opioids, and more than 50% gabapentin users with dementia reported to concurrently use gabapentin with antidepressants. Given increasing use among older adults, rigorous studies are needed to examine the safety of gabapentin in this population.
Preparation of high purity apigenin from Adinandra nitida leaves by antisolvent recry...
Li Wang
Shen Li

Li Wang

and 3 more

April 16, 2022
High purity apigenin(AP) was prepared by antisolvent recrystallization method from old Adinandra nitida leaves. The procedure was as follows: Adinandra nitida leaves were extracted by boiling water, and the extracting solution was hydrolyzed with sulfuric acid to obtain crude apigenin(58.9%); the purity of crude apigenin was further improved by antisolvent recrystallization method. A satisfactory purity(98.47%) and yield(86.65%) was obtained under the optimum purifying condition. Scanning electronic microscopy(SEM),differential scanning calorimetry(DSC), Fourier transform infrared spectroscopy(FTIR) and HPLC-MS/MS were investigated.
Relation of Endokan (ESM-1) Serum Levels with Patient Characteristics and Morphologic...
İNCİ BAŞKIR
Şebnem Özyer

İNCİ BAŞKIR

and 1 more

April 16, 2022
Objectives: This study aimed to compare the serum endocan levels of patients with uterine fibroids and the healthy control group. Design: A case-control study was designed. Setting: A tertiary referential university hospital. Population or Sample: The study was conducted with 130 women (uterine fibroid group, n= 65, control group, n= 65) aged between 30 and 45. Methods: Serum endocan levels were determined in the study and control groups using by ELISA method. The number of uterine fibroids was identified, and the volume of uterine fibroids was calculated with ellipsoid formula by ultrasonography. Main Outcome Measures: The primary outcome parameter is serum endocan levels in patients with uterine fibroids and healthy control groups. Secondly, it is aimed to determine the distribution of serum endocan level of patients according to uterine fibroid number, volume and clinical presentation. Results: The mean serum endocan level of patient with uterine fibroid was 145.18 ± 169.86 pg/mL, it was 88.94 ± 54.21 pg/mL in the control group (p=0.016). According to Roc analysis, cut-off value of endocan level for uterine fibroid was determined as ≥ 133.1 pg/mL. For the cut-off value of 133.1 pg/mL; sensitivity was 36.92%, specificity was 89.23%, positive predictive value was 77.40% and negative predictive value was 58.60%. Above this cut-off value, a 4.8-fold increased significant risk (OR) for uterine fibroid was detected. Conclusion: Serum endocan levels were found to be higher in women with uterine fibroids compared to the control group, so endocan may be considered as a significant serum marker.
Consistency of transesophageal echocardiography and angiography in grading (using the...
Dalin Ye
Ziqing Gao

Dalin Ye

and 5 more

April 16, 2022
The aim of this study was to evaluate the consistency between transesophageal echocardiography (TEE) and angiography in grading of paravalvular regurgitation (PVR) during transcatheter aortic valve replacement (TAVR) according to the Valve Academic Research Consortium 3 (VARC-3) criteria. 31 patients who underwent TEE and angiography during TAVR were retrospectively included. Circumferential extent of PVR, regurgitation volume, regurgitation fraction, and the effective regurgitant orifice area were measured by TEE. Weighted kappa coefficient was used to analyze the consistency of the two techniques. PVR was found in 16 of 31 patients. TEE assessed mild PVR in 14 cases and moderate PVR in 2 cases. Angiography assessed mild PVR in 12 cases and moderate PVR in 2 cases. The grading of TEE and angiography were the same in 29 cases, of which 15 were absent, 12 were mild, and 2 were moderate. The weighted kappa coefficient for both techniques was 0.88 (P < 0.001). The Kendall’s W coefficient of the circumferential extent of PVR, regurgitation volume, regurgitation fraction, and the effective regurgitant orifice area was 0.285 (P<0.005). TEE and angiography had strong consistency in the grading (using the VARC-3 criteria) of PVR during TAVR. TEE was a potential diagnostic tool for classifying PVR.
A case of Unicuspid Aortic Valve with Hidden Subaortic Ridge
Hoda Abdelgawad
Mohamed Abdel-Hay

Hoda Abdelgawad

and 2 more

April 16, 2022
57-years old man presented with exertional dyspnea. An early systolic murmur was heard over the aortic areas 2D and 3D Echocardiography revealed unicuspid , unicommissural aortic valve (UAV) with a characteristic “teardrop” lateral orifice (Figure A) and moderate valve stenosis (3D planimetered aortic valve area (AVA) is 1.1cm2) (Figure B) Continuous wave Doppler across aortic valve (AV) showed high peak and mean systolic gradients of 85 and 60mmHg respectively.(Figure C). 2D /3D Transesophageal Echocardiography (TOE) revealed a subaortic ridge attached to the posterior annulus (Arrow) (Figure D) Further En-face viewing of the aortic valve from the left ventricular outflow tract (LVOT) perspective showed a shelf-like ridge extending from the commissure to the cusp (Arrow) (Figure E) Zoomed mode of the aortic- LVOT junction confirmed the presence of the subaortic ridge seen attached to the posterior aortic annulus near the commissural opening (Figure F) The patient was referred for surgical consultation .. Unicupid aortic valve (UAV) is a rare congenital anomaly that has.2 subtypes ; unicomissural and acommissural subtypes. Both can present with variable degrees of the aortic stenosis (AS) and/or aortic valve regurgitation (AR).UAV has more early, accelerated and severe valvular degeneration in addition to smaller orifice in comparison with bicuspid and tricuspid aortic valve. Echocardiography is the gold standard for diagnosis and evaluation of the AV morphology and function and the associated disorders such as ventricular septal defect , aortopathy and subaortic obstruction.. Surgical aortic valve replacement (AVR) and repair of the associated anomalies are the most common treatment modality .
The NF1 pathogenic mutational spectrum and variant interpretation from 134,187 indivi...

April 16, 2022
A document by DeVon N. Hunter-Schlichting. Click on the document to view its contents.
Gas sensing properties of Mg-doped graphene for H2S, SO2, SOF2 and SO2F2 based on DFT
Xiao Peng
dongsheng liu

Xiao Peng

and 3 more

April 16, 2022
Sulfur hexafluoride decompositions have been studied to analyze their adsorption properties on pristine graphene (PG) and Mg-doped graphene (MgG). First of all, after calculating the formation energy of three Mg doping sites, the T doping site of Mg-doped graphene is the most stable one. Then, several characteristic structures with different orientations and positions of the gas molecules have been used to adsorb on PG and MgG, respectively. By calculating the adsorption energies and distance, the most stable adsorption structure of each gas molecule is obtained. In addition, charge transfer (Qt), the density of states (DOS) distribution, the energy of highest occupied molecular orbital (HOMO) and lowest unoccupied molecular orbital (LUMO) were used to further analyze the conductivity change and chemical stability of each adsorption system. The results indicate that the adsorption interactions of H2S, SO2, SOF2 and SO2F2 on PG are weak. H2S adsorbed on MgG presented physical adsorption, while the adsorption behaviors of SO2, SOF2 and SO2F2 on MgG are chemisorption. And the adsorption strength was SO2F2 > SOF2 > SO2. In short, MgG shows better selectivity and higher sensitivity to SO2, SOF2 and SO2F2 than PG, demonstrating that the MgG material can be used as suitable gas sensing equipment based on SF6 decomposition products detection, which provides a meaningful guide of alkaline earth metal doped graphene in the detection of partial discharge and partial overheat in gas-insulated switchgears (GIS).
Surfactant Administration in Preterm babies (28-36 weeks) with Respiratory Distress S...
Aradhana Mishra
Amol Joshi

Aradhana Mishra

and 3 more

April 16, 2022
ABSTRACT INtubation- SURfactant-Extubation (InSurE) approach is traditional method of surfactant delivery in preterm neonates with Respiratory Distress Syndrome (RDS). Newer, Less Invasive Surfactant Administration(LISA) techniques lessen the need for mechanical ventilation and its adverse consequences. Evidence on the favourable effects of LISA can’t be extrapolated from developed to developing countries. Aim of Study is to compare the effectiveness of InSurE and LISA. Objectives: Primary outcome was to find need of intubation and mechanical ventilation within 72 hrs of birth. Neonates were followed until discharge/death for adverse events and complications. Material & Methods: Open-label RCT was conducted at tertiary neonatal intensive care unit. Preterm neonates with diagnosis of RDS were randomized in two groups (InSurE or LISA) to receive surfactant soon after birth. Results: Total of 150 neonates were analysed (75 in each group). Insignificant Statistical difference was seen in the need for intubation and mechanical ventilation within 72 h of birth between the two groups [InSurE, 30 (40%) and LISA, 30(40%), relative risk 1.0, 95% confidence interval 0.68–1.48]. 12% (n=9, LISA group) & 14.6% (n=11 InSurE group) had adverse events during the procedure. Also, we observed insignificant statistical difference in the rates of major complications or duration of respiratory support, hospital stay & mortality. Conclusion: : LISA and InSurE are equally effective for surfactant administration in the treatment of RDS, when NIPPV is the primary mode of respiratory support. More RCTs are required to compare the efficacy & long-term outcomes of LISA with InSurE. Keywords- Intubation, Mechanical Ventilation, NIPPV.
TP53 Germline Pathogenic Variant Frequency in Anaplastic Rhabdomyosarcoma: A Children...
Douglas Fair
Luke Maese

Douglas Fair

and 14 more

April 16, 2022
Rhabdomyosarcoma (RMS) is a well-described cancer in Li-Fraumeni Syndrome (LFS), resulting from germline TP53 pathogenic variants (PVs). RMS exhibiting anaplasia (anRMS) have been associated with a high rate of germline TP53 PVs. This study provides an updated estimate of the prevalence of TP53 germline PVs from a large cohort of patients (n=239) enrolled in five Children’s Oncology Group (COG) clinical trials. Although the prevalence of germline TP53 PVs in anRMS patients in this series is much lower than previously reported, this prevalence remains significantly elevated. Germline genetic evaluation for TP53 PVs should be strongly considered in patients with anRMS.
HSPA9 frameshift and loss-of-function mutations in a patient manifesting syndromic s...
Atsuko Watanabe
Tohru Fujiwara

Atsuko Watanabe

and 4 more

April 16, 2022
We describe a case of a Japanese boy with syndromic congenital sideroblastic anemia who presented with various non-hematological symptoms. Genetic analysis showed a heterozygous frameshift mutation (c.1639delA) and T/T genotype of the common coding single nucleotide polymorphism rs10117 (c.1933C>T) in HSPA9. Parental analysis revealed that the father carried the same frameshift mutation as well as rs10117 (T/T) but was not anemic. While the rs10117T allele is associated with lower HSPA9 expression, the expression levels are variable. We speculate that the possible differences in the HSPA9 mRNA expression levels between the child and his father may have caused the phenotypic difference.
Acute Soft Head Syndrome in Sickle Cell Anemia: Creating A Firm Approach
Mark Drew
Derek Fladeland

Mark Drew

and 2 more

April 16, 2022
Sickle cell disease (SCD) is the most common inherited disease worldwide and presents with a myriad of complications1. A rare complication of SCD is acute soft head syndrome (ASHS). We present the case of a 14-year-old male with homozygous sickle cell anemia (HbSS) who presented with vaso-occlusive crisis (VOC) complicated by the peculiar development of a scalp mass. Magnetic resonance imaging (MRI) showed calvarium changes consistent with ASHS. Current literature lacks standardized management for such a complication. As such, we outline recommendations for imaging modalities, therapeutic interventions, and ongoing management based on this patient’s course over two years.
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