scholarly journals Chanarin–Dorfman syndrome: clinical/genetic features and natural history in six Pakistani patients

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Nadia Waheed ◽  
Sadaqat Ijaz ◽  
Zafar Fayyaz
Keyword(s):  
Autosomal Recessive Disorder ◽  
Cost Effective ◽  
Clinical Genetic ◽  
Low Fat Diet ◽  
Body Tissues ◽  
Genetic Features ◽  
Effective Diagnosis ◽  
And Function ◽  
Lipid Storage Disorder

Abstract Background Chanarin–Dorfman syndrome (CDS; OMIM # 275630) is a rare neutral lipid storage disorder caused by mutation in ABHD5 (a/b hydrolase domain containing 5″) a cofactor for adipose triglyceride lipase (ATGL) resulting in intracellular accumulation of triacylglycerol (TG) in numerous body tissues. It is an autosomal recessive disorder mutation in ABHD5 that causes the partial or total loss of ATGL activation, leading to the accumulation of TG inside lipid droplets. We aim to assess the clinical and biochemical manifestations, diagnosis, follow-up and genotype–phenotype correlations in six Pakistani pediatric patients with CDS. Results Six male patients with mean age 15 months (9–24 months) diagnosed as CDS on the basis of non-bullous ichthyosiform erythroderma, hepatomegaly and Jordans bodies in peripheral smear. We identified two novel mutations in ABHD5 gene (c.338G > T and c.730_731insA). These mutations have a pathogenic and damaging influence on the ABHD5 protein structure and function. During the 2 year clinical follow-up one patient died of severe chest infection; he had severe phenotype. There is no genotype–phenotype correlation in CDS. Therapy with low fat diet, MCT oil, Vit E and ursodeoxycholic acid has promising results in CDS. Conclusion Non-bullous ichthyosiform erythroderma, steatohepatitis and Jordan’s anomaly are consistent findings in all cases of CDS. It is suggested that an accurate diagnosis of CDS should be based on combination of clinical features and pathognomonic ABHD5 mutations. More studies should be carried out to identify population-specific genetic mutations for the rapid and cost-effective diagnosis of CDS.

scholarly journals Periodontal Healing of a Horizontal Root Fracture: A Case Report with a Two-year Follow-up

10.2341/08-27 ◽  
2009 ◽  
Vol 34 (1) ◽  
pp. 109-113
Author(s):  
G. Petersilka
Keyword(s):  
Case Report ◽  
Cost Effective ◽  
Minimal Invasive ◽  
Lower Incisor ◽  
Long Term Stability ◽  
Adhesive Dentistry ◽  
Root Fractures ◽  
And Function

Clinical Relevance Scientific rationale for this case report: Traumatically-induced tooth loss due to root fractures necessitates time-consuming and expensive prosthetic rehabilitation measures. To date, however, the appropriate use of minimal invasive periodontal surgery, in combination with adhesive dentistry, may allow cost-effective, reliable therapeutic options for the treatment of root fractures even below the gumline. Principal findings: The coronal part of a fractured lower incisor was reattached to the apical fragment using the periodontal flap technique, endodontic therapy and adhesive fixation measures. Uncompromised aesthetics and function, and periodontal health, were maintained over a two-year observation period. Practical implications: Data on the long-term stability of the proposed approach is scarce. However, in treatment planning for teeth with horizontal root fractures, re-bonding of the coronal part using flap surgery may be considered a treatment option.

Microcirculation of the fingers in Raynaud’s syndrome

2005 ◽  
Vol 44 (01) ◽  
pp. 29-32 ◽  
Author(s):  
I. Garai ◽  
J. Varga ◽  
G. Szücs ◽  
Z. Galajda ◽  
C. András ◽  
...  
Keyword(s):  
Nuclear Medicine ◽  
Quantitative Data ◽  
Cost Effective ◽  
Semiquantitative Analysis ◽  
Perfusion Scintigraphy ◽  
Visual Evaluation ◽  
Raynaud’S Syndrome ◽  
Raynaud's Syndrome ◽  
Primary Form

Summary Aim: We investigated the circulatory characteristics of patients suffering of primary and secondary Raynaud’s syndrome. Patients, methods: We examined 106 patients presenting with the classical symptoms of Raynaud’s syndrom (47 primary, 59 secondary) by hand perfusion scintigraphy developed by our Department of Nuclear Medicine. After visual evaluation we analyzed the images semiquantitatively, using the finger to palm ratio. We statistically compared the patients with primary and those with secondary Raynaud’s syndrome. Results: By visual evaluation we constated regional perfusion disturbances in 42 from 59 patients with secondary Raynaud’s syndrome. However, this was observed in only 3 from 47 patients with the primary form of this disease. This difference was statistically significant (p <0.001). Semiquantitative analysis showed that the finger/palm ratios (FPR) were significantly lower (p <0.05) for the patients with primary Raynaud’s syndrome. No differences in the FPR values concerning sex or right and left side. Conclusion: The hand perfusion scintigraphy with 99mTc-DTPA is a noninvasive, cost effective diagnostic tool, which objectively reflects the global and regional microcirculatory abnormalities of the hands, and provides quantitative data for follow-up.

Application of Fast Laser Deprocessing Techniques in Physical Failure Analysis on SRAM Memory of Advance Technology

2014 ◽  
Author(s):  
H.H. Yap ◽  
P.K. Tan ◽  
G.R. Low ◽  
M.K. Dawood ◽  
H. Feng ◽  
...  
Keyword(s):  
Failure Analysis ◽  
Integrated Circuit ◽  
Cost Effective ◽  
Tetraethyl Orthosilicate ◽  
Ic Design ◽  
Advance Technology ◽  
Defect Identification ◽  
Technology Scaling ◽  
And Function ◽  
Metal Layers

Abstract With technology scaling of semiconductor devices and further growth of the integrated circuit (IC) design and function complexity, it is necessary to increase the number of transistors in IC’s chip, layer stacks, and process steps. The last few metal layers of Back End Of Line (BEOL) are usually very thick metal lines (&gt;4μm thickness) and protected with hard Silicon Dioxide (SiO2) material that is formed from (TetraEthyl OrthoSilicate) TEOS as Inter-Metal Dielectric (IMD). In order to perform physical failure analysis (PFA) on the logic or memory, the top thick metal layers must be removed. It is time-consuming to deprocess those thick metal and IMD layers using conventional PFA workflows. In this paper, the Fast Laser Deprocessing Technique (FLDT) is proposed to remove the BEOL thick and stubborn metal layers for memory PFA. The proposed FLDT is a cost-effective and quick way to deprocess a sample for defect identification in PFA.

Extended Routine Follow-up of Primary Uncomplicated Hip and Knee Arthroplasty is not Necessary

2019 ◽  
Vol 13 (1) ◽  
pp. 266-271
Author(s):  
Georgina Kakra Wartemberg ◽  
Thomas Goff ◽  
Simon Jones ◽  
James Newman
Keyword(s):  
Aseptic Loosening ◽  
Revision Surgery ◽  
Revision Arthroplasty ◽  
Cost Effective ◽  
Face To Face ◽  
Primary Surgery ◽  
Effective System ◽  
Knee Revision Surgery ◽  
Knee Revision

Aims: To create a more effective system to identify patients in need of revision surgery. Background: There are over 160,000 total hip and knee replacements performed per year in England and Wales. Currently, most trusts review patients for up to 10 years or more. When we consider the cost of prolonged reviews, we cannot justify the expenditure within a limited budget. Study Design & Methods: We reviewed all patients' notes that underwent primary hip and knee revision surgery at our institution, noting age, gender, symptoms at presentation, referral source, details of the surgery, reason for revision and follow up history from primary surgery. Results: There were 145 revision arthroplasties (60 THR and 85 TKR) that met our inclusion criteria. Within the hip arthroplasty group, indications for revision included aseptic loosening (37), dislocation (10), and infection (3), periprosthetic fracture, acetabular liner wear and implant failure. All thirty-seven patients with aseptic loosening presented with pain. Twenty-five were referred from general practice with new symptoms. The remaining were clinic follow-ups. The most common reason for knee revision was aseptic loosening (37), followed by infection (21) and then progressive osteoarthritis (8). Most were referred from GP as a new referral or were clinic follow-ups. All patients were symptomatic. Conclusion: All the patients that underwent revision arthroplasty were symptomatic. Rather than yearly follow up, we recommend a cost-effective system. We are implementing a 'non face-to-face' system. Patients would be directly sent a questionnaire and x-ray form. The radiographs and forms will be reviewed by an experienced arthroplasty surgeon. The concerning cases will be seen urgently in a face-to-face clinic.

scholarly journals Implementation of podiatry telephone appointments for people with rheumatic and musculoskeletal diseases

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
J. L. Palmer ◽  
H. J. Siddle ◽  
A. C. Redmond ◽  
B. Alcacer-Pitarch
Keyword(s):  
Musculoskeletal Diseases ◽  
Cost Effective ◽  
Time Frame ◽  
Teaching Hospitals ◽  
Potential Cost ◽  
Foot Health ◽  
Telephone Consultation ◽  
Face To Face ◽  
Initial Intervention

Abstract Background Foot health problems are common in the general population, and particularly so in people with rheumatic and musculoskeletal disorders (RMD). Several clinical guidelines state that people with RMDs should have access to foot health services, although service capacity is often limited. The current COVID-19 pandemic has increased the need for alternative ways to provide patient care. The aim of this clinical audit was to review a newly implemented telephone follow-up appointment service conducted within the Rheumatology Podiatry Department in Leeds, UK. Methods Fifty-eight patients attending the Rheumatology Podiatry Department at Leeds Teaching Hospitals NHS Trust were contacted by telephone approximately 6–8 weeks following initial intervention. During the telephone consultation, all patients were asked pre-defined questions relating to their symptoms, intervention efficacy, the need for further appointments and their preference for the type of consultation. To assess the cost of the telephone consultation the number of attempts needed in order to make successful contact, the duration of the call and the number of telephone follow-up appointments completed in a working day were also recorded. Results Twenty-five patients (43%) were successfully contacted within the 6–8 weeks stipulated time frame and were included in the analysis. Of the 25 contacted, twelve (48%) patients were successfully contacted on the first attempt. Ten (40%) were successfully contacted on the second attempt. The remaining three patients (12%) required 3 or more attempts to make successful contact. Telephone consultations were estimated not to last longer than 10 min, including notes screening and documentation. Eleven patients (44%) reported an improvement in their symptoms, thirteen (52%) reported no change and one patient (4%) reported their symptoms to be worse. Conclusion Telephone follow-up consultations may be a potentially cost-effective alternative to face-to-face appointments when implemented in a Rheumatology Podiatry Department, and provide an alternative way of providing care, especially when capacity for face-to-face contact is limited. The potential cost saving and efficiency benefits of this service are likely to be enhanced when telephone consultations are pre-arranged with patients.

scholarly journals Postnatal management of children with antenatal hydronephrosis

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Mohammed S. ElSheemy
Keyword(s):  
Renal Function ◽  
Urinary Tract Obstruction ◽  
Cost Effective ◽  
Voiding Cystourethrography ◽  
Main Body ◽  
Antenatal Hydronephrosis ◽  
Postnatal Management ◽  
Effective Manner ◽  
Lower Urinary Tract Obstruction

Abstract Background Postnatal management of infants with antenatal hydronephrosis (ANH) is still one of the most controversial issues. The majority of infants with ANH are asymptomatic with only few children who develop renal insufficiency. Thus, the biggest challenge for pediatric urologists is to distinguish children who will require further investigations and possible intervention prior to the development of symptoms, complications or renal damage in a cost effective manner without exposing them to the hazards of unnecessary investigations. Main body In this review article, literature on ANH were reviewed to present the current suggestions, recommendations, guidelines and their rational for postnatal management of ANH. It is agreed that a large portion of infants with ANH will improve; thus, the protocol of management is based mainly on observation and follow-up by ultrasound to detect either resolution, stabilization or worsening of hydronephrosis. The first 2 years of life are critical for this follow-up as the final picture is mostly reached during that period. Advanced imaging using voiding cystourethrography or renal scintigraphy are required for children at risk. Then, surgical intervention is selected only for a subgroup of these infants who showed worsening of hydronephrosis or renal function. Conclusions The protocol of management is based mainly on observation and follow-up by US to detect either resolution, stabilization or worsening of hydronephrosis. Postnatal evaluation should be performed for any neonate with a history ANH at any stage during pregnancy even if it was resolved during third trimester. Exclusion of UTI should be performed by urinalysis for all cases followed by urine culture if indicated. Serum creatinine should be performed especially in patients with bilateral ANH. US is the initial standard diagnostic imaging technique. Other imaging modalities like VCUG and nuclear renal scans may be required according to the results of the US evaluation. The most important items in decision making are the presence of bilateral or unilateral hydronephrosis, presence or absence of hydroureter, presence of lower urinary tract obstruction and degree of hydronephrosis on the initial postnatal US. Then an intervention is selected only for a subgroup of these patients who showed deterioration in renal function or degree of hydronephrosis or were complicated by UTIs. All these recommendations are based on the available literature. However, management of ANH is still a controversial issue due to lack of high evidence-based recommendations. Randomised controlled studies are still needed to provide a high level evidence for different aspects of management.

scholarly journals Single-lead ECGs (AliveCor) are a feasible, cost-effective and safer alternative to 12-lead ECGs in community diagnosis and monitoring of atrial fibrillation

2021 ◽  
Vol 10 (1) ◽  
pp. e001270
Author(s):  
Jonathan James Hyett Bray ◽  
Elin Fflur Lloyd ◽  
Firdaus Adenwalla ◽  
Sarah Kelly ◽  
Kathie Wareham ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Community Setting ◽  
Cost Effective ◽  
Ventricular Rate ◽  
Service Improvement ◽  
Community Monitoring ◽  
Ventricular Response ◽  
Community Diagnosis ◽  
New Onset

BackgroundCommunity management of atrial fibrillation (AF) often requires the use of electrocardiographic (ECG) investigation. Patients discharged following treatment of AF with fast ventricular response (fast AF) can require numerous ECGs to monitor rate and/or rhythm control. Single-lead ECGs have been proposed as a more convenient and relatively accurate alternative to 12-lead ECGs for rate/rhythm management and also diagnosis of AF. We aimed to examine the feasibility of using the AliveCor single-lead ECG monitor for diagnosis and monitoring of AF in the community setting.MethodsDuring the course of 6 months, this evaluation of a clinical service improvement pathway used the AliveCor in management of patients requiring (1) follow-up ECGs for AF with previously documented rapid ventricular rate or (2) ECG confirmation of rhythm where AF was suspected. Twelve AliveCor devices provided to the acute community medical team were used to produce 30 s ECG rhythm strips (iECG) that were electronically sent to an overreading physician.ResultsSeventy-four patients (mean age 82 years) were managed on this pathway. (1) The AliveCor was successfully used to monitor the follow-up of 37 patients with fast AF, acquiring a combined total of 113 iECGs (median 1.5 ±3.75 per patient). None of these patients required a subsequent 12-lead ECG and this approach saved an estimate of up to £134.49 per patient. (2) Of 53 patients with abnormal pulses, the system helped identify 8 cases of new onset AF and 19 cases of previously known AF that had reverted from sinus back into AF.ConclusionsWe have demonstrated that the AliveCor system is a feasible, cost-effective, time-efficient and potentially safer alternative to serial 12-lead ECGs for community monitoring and diagnosis of AF.

Impact of rhythm in non-valvular atrial fibrillation on four cardiac chamber deformation imaging

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
P Philabout ◽  
L Soulat-Dufour ◽  
I Benhamou-Tarallo ◽  
S Lang ◽  
S Ederhy ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Sinus Rhythm ◽  
Cardiac Rhythm ◽  
Longitudinal Strain ◽  
Global Longitudinal Strain ◽  
Left Ventricular ◽  
Cardiac Chamber ◽  
Deformation Imaging ◽  
And Function

Abstract Background Few studies have assessed the evolution of cardiac chambers deformation imaging in patients with atrial fibrillation (AF) according to cardiac rhythm outcome. Purpose To evaluate cardiac chamber deformation imaging in patients admitted for AF and the evolution at 6-month follow-up (M6). Methods In forty-one consecutive patients hospitalised for AF two-dimensional transthoracic echocardiography was performed at admission (M0) and after six months (M6) of follow up. In addition to the usual parameters of chamber size and function, chamber deformation imaging was obtained including global left atrium (LA) and right atrium (RA) reservoir strain, global left ventricular (LV) and right ventricular (RV) free wall longitudinal strain. Patients were divided into three groups according to their cardiac rhythm at M0 and M6: AF at M0 and sinus rhythm (SR) at M6 (AF-SR) (n=23), AF at M0 and AF at M6 (AF-AF) (n=11), SR at M0 (spontaneous conversion before the first echocardiography exam) and SR in M6 (SR-SR) (n=7) Results In comparison with SR patients (n=7), at M0, AF patients (n=34)) had lower global LA reservoir strain (+5.2 (+0.4 to 12.8) versus +33.2 (+27.0 to +51.5)%; p&lt;0.001), lower global RA reservoir strain (+8.6 (−5.4 to 11.6) versus +24.3 (+12.3 to +44.9)%; p&lt;0.001), lower global LV longitudinal strain (respectively −12.8 (−15.2 to −10.4) versus −19.1 (−21.8 to −18.3)%; p&lt;0.001) and lower global RV longitudinal strain (respectively −14.2 (−17.3 to −10.7) versus −23.8 (−31.1 to −16.2)%; p=0.001). When compared with the AF-SR group at M0 the AF-AF group had no significant differences with regard to global LA and RA reservoir strain, global LV and RV longitudinal strain (Table). Between M0 and M6 there was a significant improvement in global longitudinal strain of the four chambers in the AF-SR group whereas no improvements were noted in the AF-AF and SR-SR group (Figure). Conclusion Initial atrial and ventricular deformations were not associated with rhythm outcome at six-month follow up in AF. The improvement in strain in all four chambers strain suggests global reverse remodelling all cardiac cavities with the restoration of sinus rhythm. Evolution of strain between M0 and M6 Funding Acknowledgement Type of funding source: None

Sign in / Sign up

Export Citation Format

Share Document