scholarly journals Clinicopathologic characteristics of myeloid neoplasms that harbor both a DDX41 germline and an acquired DDX41 genetic alteration

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S91-S91
Author(s):  
K Reichard ◽  
R He ◽  
D Viswanatha
Keyword(s):  
Genetic Alterations ◽  
Older Individuals ◽  
Clinicopathologic Characteristics ◽  
Genetic Profiling ◽  
Hematologic Cancer ◽  
Myeloid Neoplasms ◽  
Heterozygous Variant ◽  
Marrow Cellularity

Abstract Introduction/Objective Myeloid neoplasms associated with DDX41 germline genetic alterations are becoming increasingly recognized as a unique subset of hematologic cancer predisposition syndromes. As such, we sought to review their clinicopathologic characteristics. Methods/Case Report We searched our next-generation sequencing database for cases with two DDX41 variants; one variant at heterozygous variant allele fraction (VAF) indicating known or putative germline status, and second variant at low VAF consistent with an acquired subclone. We reviewed the clinicopathologic features. Results (if a Case Study enter NA) We identified 18 cases - male:female ratio 2.6:1, average age at presentation, 69 years (range 57-89). The diagnoses included no diagnostic abnormality (3), MDS-MLD (1), MDS-EB1 (1), increased blasts only(5-19%) (7), and AML (6). All had anemia [average hemoglobin (10.2) (range 6.5-12.9 g/dL)], 17/18 with thrombocytopenia [average 87 (range 22-222 K)], 17/18 with neutropenia [average absolute neutrophil count (ANC) (819) (range 90-1800)] and 13/18 with macrocytosis [average (101.5) (range 83.7-114 fL)]. Bone marrow cellularity (corrected for increased blasts >20%) was predominantly hypocellular (11/19) followed by normocellular (5/19). 3/19 cases showed erythroid dysplasia; no cases demonstrated granulocytic dysplasia; 7/19 cases showed megakaryocytic dysplasia. Of non-AML cases, 8/12 cases showed increased blasts [average 10% (range 5-19%)]. Of 4 cases without an increase in blasts, 1 showed MDS, 2 no dysplasia [1 -ANC of 666 and preserved platelets (222); 2- thrombocytopenia with preserved ANC (1800)] and 1 had slight megakaryocytic atypia. 16/17 cases were karyotypically normal. 14/18 of the patients are alive (median follow-up, 48) (8-125 months). Conclusion This cohort finds that myeloid neoplasms arising from DDX41 germline predisposition syndrome tend to present in older individuals, have infrequent dysplasia and are associated with a prolonged clinical course despite elevated blast counts at diagnosis. Recognition of these disorders is challenging and DDX41 testing should be included as part of genetic profiling. The presence of a suspected DDX41 germline variant may prompt confirmatory and familial testing, particularly in the event a hematopoietic transplant is a treatment option.

Intensive Stuttering Therapy With Telepractice Follow-up: A Case Study

2011 ◽  
Vol 21 (1) ◽  
pp. 11-21 ◽  
Author(s):  
Farzan Irani ◽  
Rodney Gabel
Keyword(s):  
Case Report ◽  
Therapeutic Intervention ◽  
Intensive Therapy ◽  
Positive Outcome ◽  
Eclectic Approach

This case report describes the positive outcome of a therapeutic intervention that integrated an intensive, residential component with follow-up telepractice for a 21 year old male who stutters. This therapy utilized an eclectic approach to intensive therapy in conjunction with a 12-month follow-up via video telepractice. The results indicated that the client benefited from the program as demonstrated by a reduction in percent stuttered syllables, a reduction in stuttering severity, and a change in attitudes and feelings related to stuttering and speaking.

Efektivitas Layanan Darurat Jakarta Siaga 112 dalam Penanganan Kebakaran oleh UPT. Pusat Data & Informasi Kebencanaan BPBD Provinsi DKI Jakarta

2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Musa Musa
Keyword(s):  
Emergency Service ◽  
Fire Management ◽  
Emergency Services ◽  
The Public ◽  
Information Center ◽  
Disaster Data ◽  
In Fire ◽  
Document Review

This research was conducted to determine the Effectiveness of Jakarta Siaga 112 Emergency Services in Fire Management by UPT. Disaster Data & Information Center of BPBD DKI Jakarta Province by paying attention to aspects contained in the Effectiveness of the Jakarta Siaga Emergency Service Program 112. The research method was carried out with a case study method with data collection techniques using interview methods and document review. Interviews were conducted on 10 (ten) key informants, document review focused on documents related to the Jakarta Emergency Alert Service 112 Effectiveness research in Fire Management. The results showed that the Effectiveness of Jakarta Siaga 112 Emergency Services in Fire Management by UPT. The Center for Disaster Data & Information BPBD DKI Jakarta Province Its effectiveness is still low, due to the Implementation of Emergency Services Jakarta Standby 112 in Fire Management implemented by UPT. Disaster Data & Information Center of BPBD DKI Jakarta Province in terms of the Target Group Understanding of the Program, the Achievement of the Program Objectives aspects, and the Program Follow-up aspects. It is recommended to continue to disseminate this Emergency Service to the public, it is necessary to increase the firm commitment of the Head of 8 SKPD related to fire management so that all units play a role in accordance with the Standard Operating Procedures (SOPs) for Fire Management and the evaluation and follow-up of program services that are held periodically 3 once a month.Keywords: Effectiveness, Emergency Services, Fire Handling

Paranasal Sinus Mucocele Clinical, imagistic and biochemical aspects

2018 ◽  
Vol 69 (8) ◽  
Author(s):  
Doina Vesa ◽  
Cristian Martu ◽  
Razvan Leata ◽  
Ludmila Lozneanu ◽  
luminita Radulescu ◽  
...  
Keyword(s):  
Facial Asymmetry ◽  
Retrospective Case ◽  
Mri Scans ◽  
The One ◽  
Ethmoid Sinuses ◽  
Retrospective Case Study ◽  
Cellular Components ◽  
Ct And Mri

Paranasal mucoceles are a type of cysts that evolve slowly and are asymptomatic; this poses a difficulty in diagnosing the patient because the symptoms can go unnoticed. The mucocele evolves unpredictably. On the one hand, it can become infected turning into pyoceles and on the other hand, it can invade important regions such as the orbital, cranial or genian regions, creating facial asymmetry. This is a retrospective case study of 37 patients diagnosed with sinus mucoceles, followed up by clinical examination and paraclinical tests such as CT and MRI scans. The biochemical components of the liquid from within the mucocele were analyzed and the following criteria were recorded: NaCl-, Cl-, Na+ and cholesterine as well as cellular components such as mastocytes, macrophages, hematocytes and leucocytes. In all cases, the treatment option was surgery with favorable post-operative and follow-up evaluation. The mucoceles that appeared post-operatively (maxillary and ethmoid sinuses) evolved more rapidly than the mucoceles that were induced byan external injury. Longer follow-up of operated patients permitted a more timely diagnosis of recurrences.

Obesity management through Ayurveda - A Case Study

2017 ◽  
Vol 2 (4) ◽  
Author(s):  
Dheeraj Kumar Tyagi ◽  
Shivakumar .
Keyword(s):  
Clinical Findings ◽  
Dietary Habit ◽  
Unhealthy Lifestyle ◽  
Lifestyle Management ◽  
Before And After ◽  
Effect Of Treatment ◽  
And Control

Lifestyle disorders are one of the biggest threats for the population living unhealthy lifestyle. Sthoulya (Obesity) is one such disorder which creates lot of physical as well as mental disorder to the sufferer. Due to changing lifestyle, comforts and dietary habit lots of individuals changed their life totally. Obesity is a growing disease in developed and developing countries. Prevalence is drastically hike in past few years. Ayurveda, the science of life with which we can manage and control lots of lifestyle disorders. Focusing on dietary and lifestyle management along with treatment, we can overcome the hazards of obesity which is growing in a uncontrolled manner. The available data is based on the clinical findings only. Aim and objective: To assess the effect of “Guru Cha Atarpanam Chikitsa” in the management of Sthoulya. Setting: Swastharakshana evam Yoga, OPD and IPD, SDMCAH, Hassan. Method: Udwarthana, Parisheka, Shamana Aushadhis, Ahara, and Vihara was followed within the treatment duration and effect of treatment was assessed before and after treatment, advised for follow up. Results: The treatment adopted is effective in the management of Sthoulya and to improve the quality of life.

What Matters to South African Bank Customers? A Case Study of four Main South African Banks

2015 ◽  
Vol 6 (1and2) ◽  
Author(s):  
Kingstone Mutsonziwa
Keyword(s):  
Customer Satisfaction ◽  
South African ◽  
Language Usage ◽  
Face To Face ◽  
Bank Resolution ◽  
African Context ◽  
Key Drivers ◽  
Investment Advice

This paper is a follow-up article based on the first article titled Customers speak for themselves: A case of Customer Satisfaction in the four Main South African Banks. Customer satisfaction within the banking industry is very important in the South African context. Although banks are trying their best to give their customers the best service, it is important to continuously measure customer satisfaction and identify service attributes that contribute to overall customer satisfaction for the banks. The data used in the analysis is based on a quantitative survey of 500 randomly selected customers in Pretoria, Johannesburg, Durban and Cape Town were interviewed using a face to face methodology. The key drivers of overall customer satisfaction based on regression analysis for the different banks were helpfulness and innovativeness (ABSA), helpfulness, innovativeness of the bank, resolution of problems and investment advice (FNB), language usage and friendliness of service consultants (Nedbank), innovativeness of the bank, investment advice and use of language (Standard bank). These attributes were important to the overall customer satisfaction and need to be closely monitored by the management of these banks.

scholarly journals Quality Assessment of the Services Delivered by a Court, Based on the Perceptions of Users, Magistrates, and Court Officials

2021 ◽  
Vol 13 (2) ◽  
pp. 504
Author(s):  
Patrícia Moura e Sá ◽  
Maria João Rosa ◽  
Gonçalo Santinha ◽  
Cátia Valente
Keyword(s):  
Service Quality ◽  
Service Providers ◽  
Service Performance ◽  
Technological Equipment ◽  
Perceived Service Quality ◽  
Positive View ◽  
Depth Interview

This paper aims to measure the quality of the services delivered by a court by assessing the satisfaction of court users and service providers, i.e., magistrates and court officials. For that purpose, a case study was carried out and data were collected by means of a questionnaire based on the SERVPERF instrument, in which perceived service quality is measured, considering court users, magistrates, and court officials’ perceptions of post-service performance. One hundred and fifty-eight questionnaires were successfully returned. An in-depth interview was later conducted to the court administrator to gain a richer understanding of the results achieved and ask follow-up questions. Overall, findings revealed that court users, magistrates, and court officials clearly have a positive view of the services provided, although improvement is needed, particularly in the court’s facilities and technological equipment. The current research sheds some light on the potentialities and difficulties of assessing service quality in the judiciary and contributes to the validation of the SERVPERF instrument in this context.

scholarly journals A case of hypereosinophilic syndrome with STAT5b N642H mutation

2021 ◽  
Vol 2021 (1) ◽  
Author(s):  
Feihong Ding ◽  
Chaoping Wu ◽  
Yun Li ◽  
Sudipto Mukherjee ◽  
Subha Ghosh ◽  
...  
Keyword(s):  
Complete Blood Count ◽  
Hypereosinophilic Syndrome ◽  
Organ Damage ◽  
Myeloid Neoplasm ◽  
Acute Eosinophilic Pneumonia ◽  
Myeloid Neoplasms ◽  
Somatic Signal ◽  
Generation Sequencing

ABSTRACT Hypereosinophilia is defined as persistent eosinophilia (>1.5 × 109/L). Hypereosinophilic syndrome (HES) is a term used to describe a group of disorders characterized by sustained hypereosinophilia associated with end-organ damage. Based on underlying molecular mechanism of eosinophilia, there are different subtypes of HES. Diagnosis of HES subtype can be challenging, especially in the absence of overt lymphoid/myeloid neoplasms or discernable secondary causes. Long-term outpatient follow-up with periodic complete blood count and repeated bone marrow biopsy may be needed to monitor disease activity. Somatic signal transducer and activation transcription 5b (STAT5b) N642H mutation was recently found to be associated with myeloid neoplasms with eosinophilia. We report a case of HES who presented with pulmonary embolism and acute eosinophilic pneumonia, found to have recurrent STAT5b N642H mutation by next-generation sequencing, suggesting possible underlying myeloid neoplasm.

scholarly journals Approaches to Anti-Ageism Interventions

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 672-672
Author(s):  
Tracey Gendron ◽  
Jennifer Inker
Keyword(s):  
Social Interactions ◽  
Self Esteem ◽  
Older Individuals ◽  
Staff Members ◽  
Self Development ◽  
And Behaviors ◽  
Aging Anxiety ◽  
Negative Impacts ◽  
Systemic Nature

Abstract Ageism, a multidimensional construct, is also understood as a relational process whereby perceptions and behaviors toward older individuals by younger individuals not only damage the self-esteem of elders, but also create a hostile environment for their own future social interactions and their own future self-development as elders. Anti-ageism interventions have the hefty task of improving attitudes and behaviors toward aging within all of these contexts. This presentation will discuss findings from two different anti-ageism interventions both designed to mitigate the negative impacts of ageism. Results from a study on an intergenerational arts-based program found that after participation students demonstrated a positive change in their attitudes toward older adults. Findings from a video-based ageism intervention among a sample of 265 staff members in 15 senior living communities demonstrated decreased internalized aging anxiety as well as decreased ageist behaviors directly after the training and at three month post follow-up. Given the complex and systemic nature of ageism, diversity is necessary in scope and type of intervention in order to reach the broadest audience.

scholarly journals Characteristics of patients with coexisting DNAJB9-associated fibrillary glomerulonephritis and IgA nephropathy

2020 ◽  
Author(s):  
Samar M Said ◽  
Alejandro Best Rocha ◽  
Anthony M Valeri ◽  
Mohamad Sandid ◽  
Anhisekh Sinha Ray ◽  
...  
Keyword(s):  
Iga Nephropathy ◽  
Immunoglobulin A ◽  
Renal Survival ◽  
Hepatitis C Infection ◽  
Clinicopathologic Characteristics ◽  
Fibrillary Glomerulonephritis ◽  
Kaplan Meier ◽  
Dense Deposits ◽  
End Stage

Abstract Background Coexistence of fibrillary glomerulonephritis (FGN) and immunoglobulin A (IgA) nephropathy (IgAN) in the same kidney biopsy (FGN–IgAN) is rare, and the clinicopathologic characteristics and outcome of this dual glomerulopathy are unknown. Methods In this study, 20 patients with FGN–IgAN were studied and their characteristics were compared with 40 FGN and 40 IgAN control patients. Results Concurrent IgAN was present in 1.8% of 847 consecutive FGN cases and was the second most common concurrent glomerulopathy after diabetic nephropathy. FGN–IgAN patients were overwhelmingly White (94%) and contrary to FGN patients were predominantly (60%) males. Compared with IgAN patients, FGN–IgAN patients were older, had higher proteinuria, a higher incidence of renal insufficiency, and a lower incidence of microhematuria and gross hematuria at diagnosis. Six (30%) patients had malignancy, autoimmune disease or hepatitis C infection, but none had a secondary cause of IgAN or clinical features of Henoch–Schonlein purpura. Histologically, all cases exhibited smudgy glomerular staining for immunoglobulin G and DnaJ homolog subfamily B member 9 (DNAJB9) with corresponding fibrillary deposits and granular mesangial staining for IgA with corresponding mesangial granular electron-dense deposits. On follow-up (median 27 months), 10 of 18 (56%) FGN–IgAN patients progressed to end-stage kidney disease (ESKD), including 5 who subsequently died. Serum creatinine at diagnosis was a poor predictor of renal survival. The proportion of patients reaching ESKD or died was higher in FGN–IgAN than in IgAN. The median Kaplan–Meier ESKD-free survival time was 44 months for FGN–IgAN, which was shorter than IgAN (unable to compute, P = 0.013) and FGN (107 months, P = 0.048). Conclusions FGN–IgAN is very rare, with clinical presentation and demographics closer to FGN than IgAN. Prognosis is guarded with a median renal survival of 3.6 years. The diagnosis of this dual glomerulopathy requires careful evaluation of immunofluorescence findings, and electron microscopy or DNAJB9 immunohistochemistry.

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