scholarly journals Clinical features of familial hypercholesterolaemia in children and adults – the PMMHRI Registry

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
J Lewek ◽  
E Starostecka ◽  
A Konopka ◽  
B Sosnowska ◽  
M Banach ◽  
...  
Keyword(s):  
Clinical Features ◽  
Muscle Pain ◽  
Ldl Cholesterol ◽  
Familial Hypercholesterolaemia ◽  
Adult Patients ◽  
The Other ◽  
Statin Intolerance ◽  
Baseline Visit ◽  
Other Hand ◽  
Lifetime Exposure

Abstract Background Familial hypercholesterolaemia (FH) affects approximately 150,000 people in Poland. However, there are many patients still unaware of this diagnosis. On the other hand, it might lead to early cardiovascular mortality and morbidity due to the lifetime exposure to high levels of LDL-C. Therefore, increased awareness of FH is very important. Purpose We aimed to evaluate the clinical features of FH in children and adults based on the preliminary data from the Polish Mother's Memorial Hospital Research Institute (PMMHRI) Registry. Methods The registry of children and adults with FH conducted in PMMHRI (2nd largest, supra-regional hospital in Poland) was established to investigate the clinical characteristics, management and clinical outcomes data of FH patients. All consecutive patients with diagnosed (genetically and/or phenotypically) FH were included in the study. Results Of 103 patients with FH, there were 16 children aged 9±3 and 87 adults aged 41±16; 59% were female. The diagnosis of FH in adults was late – at the mean age of 41 years. Among children with FH, as compared with adults, the levels of highest TC and LDL-C ever were similar. However, children presented higher mean levels of total cholesterol, LDL-C and HDL-C measured at baseline visit (Table). Interestingly there was no difference in BMI between children and adults (Table). Among adults, chronic coronary syndrome was diagnosed in 11.5% patients, from which 5.7% patients had a history of myocardial infarction and 7% patients required revascularization. The prevalence of chronic coronary disease, peripheral artery disease as well as stroke in family history was definitely higher (in 44 patients – 50%, 17 patients – 20% and 22 patients – 25%, respectively). Most of adult patients at baseline visit were prescribed statins (rosuvastatin or atorvastatin). 14 patients (13.6%) declared statin intolerance, most of them complained of muscle pain, 4.6% patients reported hepatic disturbances. The frequency of statin use in children was lower – 56% children were prescribed statin, 19% declared statin intolerance with muscle pain as the side-effect of treatment. Ezetimibe, as a part of combination therapy, was taken by 29% adult patients. PCSK9 inhibitors were prescribed (within drug program) for 11.5% adult patients. Fibrates were prescribed for 13.7% adult patients, the same was for n-3 fatty acids. Conclusions Despite definitely younger age of FH diagnosis children present higher mean levels of LDL cholesterol than adults. Therefore, the lifetime exposure to LDL cholesterol starts at a very young age. As a result, there is a need to the earlier initiation of therapy and strict monitoring of the atherosclerosis progression. On the other hand, late diagnosis of FH in adults is an unmet need, that might be associated with poorer prognosis. FUNDunding Acknowledgement Type of funding sources: None.

Matched HLA Haplotype Contributes to Reduce Sever Acute GVHD with Conserving GVL Effect in HLA-Mismatched Cord Blood Transplantation,

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 4140-4140
Author(s):  
Satoshi Takahashi ◽  
Jun Ooi ◽  
Seiko Kato ◽  
Toshiro Kawakita ◽  
Arinobu Tojo ◽  
...  
Keyword(s):  
Cord Blood ◽  
Acute Gvhd ◽  
Adult Patients ◽  
The Other ◽  
Control Group ◽  
Hematopoietic Stem ◽  
Graft Versus Host ◽  
Matched Group ◽  
Other Hand ◽  
The Impact

Abstract Abstract 4140 Study purpose: The cell dose of graft is the primary factor to select for cord blood (CB) unit and most of adult patients choose human leukocyte antigen (HLA)-mismatched CB graft. We have performed more than 7,500 CB transplantation (CBT) in Japan. Almost two-third of them has been using 2-loci HLA-mismatched CB unit. The degree of HLA disparity between patient and graft is known to be associated with risks of poor graft function and of graft-versus-host disease (GVHD) on allogeneic hematopoietic stem cell transplantation. On the other hand, those risks of transplant-related complications are not equivalent even among the donor-recipient pairs who have same number of mismatched HLA antigens. The mismatched HLA haplotype could be responsible for post-transplant adverse events because of incompatibility of non-HLA polymorphic genes. Recently, HLA haplotype matching effect on GVHD has been demonstrated in unrelated bone marrow transplantation (S Morishima, et al. Blood 2010). In this study, we have performed the single institutional analysis to determine the impact of HLA haplotype matching in HLA-mismatched CBT. Patients and Methods: We studied the clinical outcomes of 170 consecutive adult patients who received unrelated CBT between August 1998 and January 2011 in the institute of medical Science, University of Tokyo. Patients received previous allogeneic transplants were excluded from this study. All patients received myeloablative regimens including 12 Gy of total body irradiation, cyclosporine plus short term methotraxate for GVHD prophylaxis and almost same supportive care by the institutional protocol. By low-resolution typing method for HLA-A, -B and -DR loci, 6 patients received matched grafts, 57 received 1 antigen-mismatched and 107 received 2 antigens-mismatched grafts in the graft-versus-host (GvH) direction. We have determined the HLA haplotype based on common haplotypes in Japanese population referred from the 11th International Histocompatibility Workshop and other previous reports. We evaluated the impact of haplotype matching on cumulative incidences of hematopoietic recovery, of GVHD, of relapse and of non-relapse mortality (NRM) using the Pepe and Mori's test. Estimates of overall and disease-free survivals were calculated using the Kaplan-Meier method and analyzed by the log-rank test. Results: Thirty-three among all 170 pairs were defined as the haplotype-matched pairs sharing same haplotypes in both grafts and recipients. The age, sex, cytomegalovirus serological status, diagnosis, risk of the disease at the transplant, numbers of total nucleated cells and CD34+ cells at the cryopreserved were not significantly different between both groups with and without matched haplotypes. Engraftment of platelet after CBT tended to be earlier in haplotype-matched group compared with control group among the 1 antigen-mismatched pairs in the host-versus-graft direction (median: 38 days versus 44 days) and among the 2 antigens-mismatched pairs (median: 38 days versus 42 days), but those were not significant. The cumulative incidences of grades III and IV acute GVHD in patients with haplotype-matched (7%) were significantly lower than non-matched group (9%) among 2 antigens-mismatched pairs in the GvH direction (P=0.033). Notably, cumulative incidences of relapse tended to be lower in haplotype-matched patients among this group (3 years cumulative incidences were 7% in haplotype-matched patients versus 21% in non-matched patients, P=0.086). The haplotype matching effects were not observed in survival rates, cumulative incidences of NRM among any HLA-mismatched pairs. Conclusion: Those data suggest that untyped variation carried on the HLA haplotytpe might be better to be matched. The haplotype matching seemed to effect on lower risk of sever acute GVHD, on the other hand, graft-versus-leukemia effect was conserved in the setting of HLA-mismatched CBT. Disclosures: No relevant conflicts of interest to declare.

APO E gene and gene-environment effects on plasma lipoprotein-lipid levels

2000 ◽  
Vol 4 (2) ◽  
pp. 101-108 ◽  
Author(s):  
JAMES M. HAGBERG ◽  
KENNETH R. WILUND ◽  
ROBERT E. FERRELL
Keyword(s):  
Ldl Cholesterol ◽  
Disease Risk ◽  
Strong Support ◽  
Lipid Profiles ◽  
Plasma Lipoprotein ◽  
The Other ◽  
Cholesterol Levels ◽  
Lipoprotein Lipid ◽  
Other Hand ◽  
Apo E

Apolipoprotein E (apo E) is important in plasma lipid metabolism and is a component of several plasma lipoprotein-lipid particles. Three major apo E isoforms are encoded by three common alleles at the APO E locus. The E2 allele is associated with lower and the E4 allele with higher total plasma cholesterol and LDL cholesterol levels compared with the E3 allele. Available data generally indicate that APO E2, and possibly E3, genotype individuals reduce plasma total and low-density lipoprotein (LDL) cholesterol levels more than APO E4 individuals with statin therapy. Some evidence also indicates that APO E2 individuals are more likely to respond favorably to gemfibrozil and cholestyramine. On the other hand, it appears that with probucol, APO E4 genotype individuals may improve plasma lipoprotein-lipid profiles more than APO E3 individuals. APO E2 and E3 genotype perimenopausal women appear to improve plasma lipoprotein-lipid profiles more with hormone replacement therapy than APO E4 women. On the other hand, low-fat diet interventions tend to reduce plasma LDL cholesterol and, perhaps, plasma total cholesterol levels more in APO E4 than in APO E2 or E3 individuals. Both cross-sectional and longitudinal studies generally indicate that APO E2 and E3 individuals improve plasma lipoprotein-lipid profiles more with exercise training than APO E4 individuals. Although these data are hardly definitive, they lend strong support for the possibility that in the near future individuals will be directed to what might be their optimal therapy for improving plasma lipoprotein-lipid profiles and cardiovascular disease risk based partially on APO E genotype.

scholarly journals Concurrent tuberculosis and COVID-19: reports of three cases

2020 ◽  
pp. 111-114
Author(s):  
Chinmay Saha Podder ◽  
Nandini Chowdhury
Keyword(s):  
Severe Acute Respiratory Syndrome ◽  
Clinical Features ◽  
Causes Of Death ◽  
The Other ◽  
Other Hand ◽  
Global Pandemic ◽  
Infectious Origin ◽  
Day By Day

Coronavirus disease 2019 (COVID-19), the latest global pandemic is on the hunt and the incidence is sharply rising day by day. On the other hand, tuberculosis (TB) is the leading causes of death from infectious origin. Historically, coronaviral illness were reported with co-infection with TB; Severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) is not an exception. As both diseases have overlapping clinical features, sometimes it maybe very difficult to diagnose and long standing features of TB can easily be mistaken for post-acute COVID-19. This report emphasizes the importance of suspecting TB-COVID co-infection and its grave consequences. Birdem Med J 2020; 10, COVID Supplement: 111-114

Surgery in Infancy and Childhood

PEDIATRICS ◽  
1959 ◽  
Vol 23 (1) ◽  
pp. 150-150
Author(s):  
J. H. EBBS
Keyword(s):  
Clinical Features ◽  
General Surgery ◽  
Postoperative Care ◽  
The Other ◽  
General Treatment ◽  
Senior Student ◽  
Other Hand ◽  
Infancy And Childhood

This textbook deals with surgery for the senior student and nurse. The general treatment of the important subjects of pre- and postoperative care, anesthesia and specialized conditions of infancy and childhood are features of early chapters. It is noted that numerous rare conditions are mixed in with common every-day surgical problems without indication of the incidence nor all common conditions dealt with. It is obvious that the textbook is not intended to replace a textbook of general surgery. The description of the clinical features and treatment of most conditions is not complete, yet it is probably adequate for the student in medicine. On the other hand such conditions as intussusception are extremely well written and documented.

Endobronchial Involvement in Sarcoidosis

2016 ◽  
Vol 01 (01) ◽  
pp. 27 ◽  
Author(s):  
Cuneyt Tetikkurt ◽  
Keyword(s):  
Clinical Features ◽  
Short Review ◽  
Normal Mucosa ◽  
Clinical Findings ◽  
Current Data ◽  
The Other ◽  
Organ Involvement ◽  
Bronchial Biopsy ◽  
Other Hand ◽  
Inflammatory Changes

Endobronchial involvement is a common feature of sarcoidosis. The mucosa may appear normal or there may be inflammatory changes with erythematous lesions, miliary nodules, and, rarely, mass-like lesions leading to obstruction. In patients with bronchial lesions, the bronchial biopsy may be positive in three-quarters of patients. On the other hand, granulomas may be identified in one-third of patients with a normal mucosa. Current data on endobronchial sarcoidosis is primarily associated with the treatment and prognosis of obstructive mass-like granulomas. Data relevant to clinical features of superficial endobronchial involvement and its implications on prognosis and extrapulmonary organ involvement is lacking. The results of our two previous studies reveal that clinical findings of endobronchial disease may be different. These studies also suggest that there is a great difference between patients with no endobronchial involvement, limited and diffuse endobronchial disease in regard to clinical features, and prognosis. The incidence of extrapulmonary organ involvement is also significantly different between the three groups. In this short review, the clinical findings of endobronchial sarcoidosis have been defined, the effects of superficial endobronchial involvement on prognosis, and extrapulmonary organ involvement.

scholarly journals Assessment of motivation, expectations and satisfaction of adult patients submitted to orthodontic treatment

2013 ◽  
Vol 18 (2) ◽  
pp. 81-87 ◽  
Author(s):  
Patrícia Gomide de Souza Andrade Oliveira ◽  
Rubens Rodrigues Tavares ◽  
Jairo Curado de Freitas
Keyword(s):  
Orthodontic Treatment ◽  
Psychological Aspects ◽  
Adult Patients ◽  
The Other ◽  
Treatment Results ◽  
High Interest ◽  
Other Hand ◽  
Level Of Satisfaction ◽  
Satisfaction With Treatment ◽  
High Level

OBJECTIVE: The purpose of this study was to analyze the psychological aspects of adult patients who sought and underwent orthodontic treatment, evaluating their expectations and discomfort during treatment, as well as their satisfaction after completion of dental movement. RESULTS AND CONCLUSIONS: Data obtained from previous published papers, and also from questionnaires answered by 54 patients, showed that adult patients stood out for their attention to details and high interest in the esthetic improvements provided by treatment, and also for a greater perception of their initial malocclusion. On the other hand, the same data showed that adult patients, once informed about the limitations of their treatment and having confidence on the orthodontist, presented a high level of satisfaction with treatment results, revealing themselves as good patients for indication and execution of orthodontic procedures.

scholarly journals Prolonged diagnostic delay in acromegaly is associated with increased morbidity and mortality

2020 ◽  
Vol 182 (6) ◽  
pp. 523-531 ◽  
Author(s):  
Daniela Esposito ◽  
Oskar Ragnarsson ◽  
Gudmundur Johannsson ◽  
Daniel S Olsson
Keyword(s):  
Clinical Features ◽  
Diagnostic Delay ◽  
Adult Patients ◽  
The Other ◽  
Morbidity And Mortality ◽  
Standardized Mortality Ratio ◽  
National Patient Registry ◽  
Diagnostic Codes ◽  
National Patient ◽  
Mortality Ratio

Context Clinical features of acromegaly develop insidiously. Its diagnosis may therefore be delayed. Objective Our aim was to study diagnostic delay and its impact on morbidity and mortality in a nationwide cohort of patients with acromegaly. Design Adult patients diagnosed with acromegaly between 2001 and 2013 were identified in the Swedish National Patient Registry. Diagnostic codes for predefined comorbidities associated with acromegaly were recorded between 1987 and 2013. Diagnostic delay was calculated as the time between the first registered comorbidity and the diagnosis of acromegaly. Results A total of 603 patients (280 men, 323 women) with acromegaly were included. Mean (s.d.) diagnostic delay was 5.5 (6.2) years (median (minimum, maximum) 3.3 (0.0–25.9)) Diagnostic delay was 1–<5 years in 23% patients; 5–<10 years in 17%; and ≥10 years in 24%. No delay was recorded in 36% of patients. Overall, mean (s.d.) number of comorbidities was 4.1 (2.5) and was higher in patients with longer diagnostic delay (P < 0.0001). Overall, observed number of deaths was 61 (expected 42.2), resulting in a standardized mortality ratio (SMR) of 1.45 (95% CI: 1.11–1.86). Increased mortality was only found in patients with the longest diagnostic delay (1.76, 95% CI: 1.12–2.65). In the other groups, no statistically significant increase in mortality was recorded, with the numerically lowest SMR observed in patients without diagnostic delay (1.18; 95% CI: 0.68–1.92). Conclusions The diagnosis of acromegaly is delayed in most patients. Prolonged diagnostic delay is associated with increased morbidity and mortality.

scholarly journals Cardiac Complications in Non-Transfusion Dependent Thalassaemia

2019 ◽  
Vol 3 (01) ◽  
pp. 24-27
Author(s):  
Amin Lutful Kabir ◽  
Naseeb Muhammad Irshadullah ◽  
Mujahida Rahman
Keyword(s):  
Clinical Features ◽  
Early Treatment ◽  
Causes Of Death ◽  
The Other ◽  
Cardiac Complications ◽  
Other Hand ◽  
Hb E

Among the haemoglobinopathies non-transfusion dependent thalassaemia (NTDT) are more common than the major patients. Bangladesh is located within the thalassaemia belt, moreover, Hb-E is prevalent here. So, the burden of non-transfusion dependent haemoglobinopathies is pretty massive. Due to less severe presentation and unawareness of general people, most patients with NTDT present with complications. On the other hand, cardiac complications are the major causes of death in these patients, and, negligence in early treatment increases the death. This review discusses haemoglobinopathies in general, followed by pathogenesis, clinical features and management of cardiac complications.

A study of cometary eruptions through OH radio-lines

1999 ◽  
Vol 173 ◽  
pp. 249-254
Author(s):  
A.M. Silva ◽  
R.D. Miró
Keyword(s):  
Short Duration ◽  
Growth Curves ◽  
The Other ◽  
Initial Mass ◽  
Radio Lines ◽  
Other Hand ◽  
Sudden Rise

AbstractWe have developed a model for theH2OandOHevolution in a comet outburst, assuming that together with the gas, a distribution of icy grains is ejected. With an initial mass of icy grains of 108kg released, theH2OandOHproductions are increased up to a factor two, and the growth curves change drastically in the first two days. The model is applied to eruptions detected in theOHradio monitorings and fits well with the slow variations in the flux. On the other hand, several events of short duration appear, consisting of a sudden rise ofOHflux, followed by a sudden decay on the second day. These apparent short bursts are frequently found as precursors of a more durable eruption. We suggest that both of them are part of a unique eruption, and that the sudden decay is due to collisions that de-excite theOHmaser, when it reaches the Cometopause region located at 1.35 × 105kmfrom the nucleus.

Closing the GAP—A 5Å Scanning Microscope

1969 ◽  
Vol 27 ◽  
pp. 6-7
Author(s):  
A. V. Crewe
Keyword(s):  
Normal Form ◽  
The Other ◽  
Resolving Power ◽  
Scanning Microscope ◽  
Conventional Microscope ◽  
Other Hand ◽  
Closing The Gap ◽  
Thermal Sources ◽  
Better Than ◽  
Transmission Microscope

We have become accustomed to differentiating between the scanning microscope and the conventional transmission microscope according to the resolving power which the two instruments offer. The conventional microscope is capable of a point resolution of a few angstroms and line resolutions of periodic objects of about 1Å. On the other hand, the scanning microscope, in its normal form, is not ordinarily capable of a point resolution better than 100Å. Upon examining reasons for the 100Å limitation, it becomes clear that this is based more on tradition than reason, and in particular, it is a condition imposed upon the microscope by adherence to thermal sources of electrons.

Sign in / Sign up

Export Citation Format

Share Document