scholarly journals Diabetes in Patients with Ataxia telangiectasia: A National Cohort Study

2020 ◽  
Author(s):  
Helena Donath ◽  
Ursula Hess ◽  
Matthias Kieslich ◽  
Marius Theis ◽  
Ute Ohlenschläger ◽  
...  
Keyword(s):  
Retrospective Analysis ◽  
Ataxia Telangiectasia ◽  
Autosomal Recessive ◽  
Fasting Glucose ◽  
Therapy Response ◽  
Common Finding ◽  
Oral Glucose ◽  
Multisystem Disorder ◽  
National Cohort

Abstract Background: Ataxia telangiectasia (A-T) is a rare autosomal-recessive multisystem disorder characterized by pronounced cerebellar ataxia, telangiectasia, cancer predisposition and altered body composition. In addition, evidence is rising for endocrine dysfunction. Objectives: To determine the evolution of diabetes and its prevalence in a larger A-T cohort. Methods: A retrospective analysis of the patient charts of 39 subjects from the Frankfurt A-T cohort was performed between August 2002 and 2018 concerning HbA1c and oral glucose tolerance (OGTT). The median follow-up period was 4 years (1-16 years). In addition, in 31 A-T patients aged 1 to 38 years HbA1c and fasting glucose were studied prospectively from 2018-2019. Results: In the retrospective analysis, we could demonstrate a longitudinal increase of HbA1c. The prospective analysis showed a significant increase of HbA1c and fasting glucose with age (r = 0.79, p <0.0001). OGTT has a good sensitivity for IR screening, whereas HbA1c can be used to evaluate individual courses and therapy response. Seven out of 39 (17.9%) patients suffered from diabetes. Metformin did not always lead to sufficient diabetes control; one patient was treated successfully with repaglinide. Conclusion: Diabetes is a common finding in older A-T patients and often starts in puberty. Our data clearly demonstrate the need for an annual diabetes screening in patients > 12 years.

scholarly journals A Clinic-based Approach to Diagnosis and Management of Prediabetes in High-risk Children and Adolescents

2020 ◽  
Vol 4 (4) ◽  
Author(s):  
Chelsea Lawson ◽  
S Naseeruddin Ahmed ◽  
Cassandra Brady ◽  
Ashley H Shoemaker
Keyword(s):  
High Risk ◽  
Glucose Tolerance ◽  
Best Practice ◽  
Fasting Glucose ◽  
Retrospective Chart Review ◽  
Normal Glucose Tolerance ◽  
Oral Glucose ◽  
Oral Glucose Tolerance Testing ◽  
Normal Glucose

Abstract Background Type 2 diabetes (T2D) in youth is increasing in prevalence. Diabetes screening is recommended for at-risk youth but best-practice strategies for management of pediatric prediabetes are unknown. This study leverages a pediatric prediabetes clinic to assess identification of high-risk patients, the rate of clinic follow-up and progression to T2D in youth over time. Methods Retrospective chart review of children referred to a single center for evaluation of prediabetes over a 3-year period. Measurements included hemoglobin A1c (HbA1C) and oral glucose tolerance testing. Patients were classified as normal glucose tolerance (NGT), impaired glucose tolerance (IGT) or T2D based on 2019 American Diabetes Association criteria. Patients classified as IGT/T2D were prescribed metformin. Results Of the 254 patients included; 25.6% had IGT and 6.7% had T2D. The IGT/T2D groups were older and more obese than the NGT group. There was a moderate correlation between HbA1C and fasting glucose (r = 0.59, P &lt; 0.001); HbA1C and 2-hour glucose (r = 0.63, P &lt; 0.001). Over the 3-year study, 52 of 82 patients with IGT/T2D (63%) returned for follow-up. Four patients regained NGT; 3 of those had isolated impaired fasting glucose (100 to 102 mg/dL). Three patients (4.6%) progressed from IGT to T2D over an average of 13 ± 6.2 months. In those patients, body mass index had increased 1.7 ± 2.3 kg/m2 from baseline. Conclusions A pediatric prediabetes clinic may allow for identification of high-risk youth but lost to follow-up rates are high. Continued weight gain is a risk factor for progression to T2D and effective weight management programs are needed.

Risk factors for significant prostate cancer in radical cystoprostatectomy specimen: A retrospective analysis.

2016 ◽  
Vol 34 (2_suppl) ◽  
pp. 136-136
Author(s):  
Andrea Katharina Thissen ◽  
Daniel Porres ◽  
David J. K. P. Pfister ◽  
Axel Heidenreich
Keyword(s):  
Prostate Cancer ◽  
Risk Factors ◽  
Bladder Cancer ◽  
Retrospective Analysis ◽  
Potential Risk ◽  
Common Finding ◽  
Considerable Proportion ◽  
Radical Cystoprostatectomy ◽  
Potential Risk Factors

136 Background: Prostate cancer (Pca) has been found incidentally in radical cystoprostatectomy (RCP) specimens in 27-70%. We evaluated histopathological features and clinical outcome of patients with incidental Pca undergoing RCP for urothelial bladder cancer and identified potential risk factors for the presence of significant Pca, being defined as Gleason Score ≥7b, primary tumor ≥T2c or Pca volume ≥0.5cm3. Methods: A retrospective analysis of patients who underwent RCP between 01/2005-03/2015 was performed with regard to clinical data and pathohistological features. Whole mount serial sections of specimens were examined in the same urological and pathological institution. Pca grade, p-stage, cancer volume and surgical margins were recorded. Preoperative PSA values and follow-up were analysed. Results: We identified 71 patients with incidental Pca with a mean age of 71.7 years (47-84 years). 33/71 patients (46.5%) had significant Pca (28.2% ≥T2c, 4.2% GS ≥7b [+≥T2c], 14.1% cancer volume ≥0.5cm3[+≥T2c]). Other features were as follows: pT2a, n=36 (50.7%); pT2b, n=2 (2.8%); GS 6, n=50 (70.4%); GS 7a, n=18 (25,3%). All patients were R0 and N0 for Pca. Mean preoperative PSA level was 2.7ng/ml. None of the patients developed biochemical recurrence (median follow-up: 29.5 [1-124 months]). Patients with significant Pca were older than those with insignificant Pca (median age 71.2 years vs 70.1 years) and had higher preoperative PSA levels: 90% of patients with a PSA level of 4-10ng/ml had a ≥T2c Pca, while 81.5% of patients with PSA levels of 0-1ng/ml had a pT2a Pca. P-stages in patients with PSA values between 1-4ng/ml were found to be equally distributed between pT2a-pT2c. Conclusions: The occurence of incidental Pca is a common finding in patients undergoing RCP, with a considerable proportion having the characteristics of significant Pca. Potential risk factors for significant Pca are older age and PSA levels >4ng/ml. However, none of the patients experienced biochemical relapse or Pca-related death during the follow-up. In line with published data, incidental Pca does not impact on the oncological outcome of patients undergoing RCP. The prognosis is primarily determined by bladder cancer.

scholarly journals Incretin responses to oral glucose and mixed meal tests and changes in fasting glucose levels during 7 years of follow-up: The Hoorn Meal Study

PLoS ONE ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. e0191114 ◽  
Author(s):  
A. D. M. Koopman ◽  
F. Rutters ◽  
S. P. Rauh ◽  
G. Nijpels ◽  
J. J. Holst ◽  
...  
Keyword(s):  
Fasting Glucose ◽  
Oral Glucose ◽  
Mixed Meal ◽  
Glucose Levels ◽  
Meal Study

scholarly journals Classic ataxia-telangiectasia: the phenotype of long-term survivors

2019 ◽  
Vol 267 (3) ◽  
pp. 830-837 ◽  
Author(s):  
Nienke J. H. van Os ◽  
Marcel van Deuren ◽  
Corry M. R. Weemaes ◽  
Judith van Gaalen ◽  
Helma Hijdra ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Hospital Admissions ◽  
Multisystem Disorder ◽  
Medical Treatments ◽  
History Of ◽  
The Many ◽  
Long Term Survivors ◽  
Age Awareness

Abstract Objective Patients with classic ataxia–telangiectasia (A–T) generally die in the second or third decade of life. Clinical descriptions of A–T tend to focus on the symptoms at presentation. However, during the course of the disease, other symptoms and complications emerge. As long-term survivors with classic A–T develop a complex multisystem disorder with a largely unknown extent and severity, we aimed to comprehensively assess their full clinical picture. Methods Data from Dutch patients with classic A–T above the age of 30 years were retrospectively collected. In addition, we searched the literature for descriptions of classic A–T patients who survived beyond the age of 30 years. Results In the Dutch cohort, seven classic A–T patients survived beyond 30 years of age. Fourteen additional patients were retrieved by the literature search. Common problems in older patients with classic A–T were linked to ageing. Most patients had pulmonary, endocrine, cardiovascular, and gastro-intestinal problems. All patients had a tetraparesis with contractures. This led to immobilization and frequent hospital admissions. Most patients expressed the wish to no longer undergo intensive medical treatments, and waived follow-up programs. Conclusions Paucity of descriptions in the literature, and withdrawal from medical care complicate the acquisition of follow-up data on the natural history of long-term survivors. Irrespective of these limitations, we have obtained impression of the many problems that these patients face when surviving beyond 30 years of age. Awareness of these problems is needed to guide follow-up, counselling, and (palliative) care; decisions about life-prolonging treatments should be well considered.

scholarly journals Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: an overview of the data from the epidemiological studies within the IMI DIRECT Consortium

2018 ◽  
Author(s):  
Robert W. Koivula ◽  
Ian M. Forgie ◽  
Azra Kurbasic ◽  
Ana Viñuela ◽  
Alison Heggie ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Adipose Tissue ◽  
Fasting Glucose ◽  
Tolerance Test ◽  
Glucose Regulation ◽  
Oral Glucose ◽  
Diabetes Research ◽  
Normal Glucose

Abstract/SummaryBackground and aims:Understanding the aetiology, clinical presentation and prognosis of type 2 diabetes (T2D) and optimizing its treatment might be facilitated by biomarkers that help predict a person’s susceptibility to the risk factors that cause diabetes or its complications, or response to treatment. The IMI DIRECT (Diabetes Research on Patient Stratification) Study is a European Union (EU) Innovative Medicines Initiative (IMI) project that seeks to test these hypotheses in two recently established epidemiological cohorts. Here, we describe the characteristics of these cohorts at baseline and at the first main follow-up examination (18-months).Materials and methods:From a sampling-frame of 24,682 European-ancestry adults in whom detailed health information was available, participants at varying risk of glycaemic deterioration were identified using a risk prediction algorithm and enrolled into a prospective cohort study (n=2127) undertaken at four study centres across Europe (Cohort 1: prediabetes). We also recruited people from clinical registries with recently diagnosed T2D (n=789) into a second cohort study (Cohort 2: diabetes). The two cohorts were studied in parallel with matched protocols. Endogenous insulin secretion and insulin sensitivity were modelled from frequently sampled 75g oral glucose tolerance (OGTT) in Cohort 1 and with mixed-meal tolerance tests (MMTT) in Cohort 2. Additional metabolic biochemistry was determined using blood samples taken when fasted and during the tolerance tests. Body composition was assessed using MRI and lifestyle measures through self-report and objective methods.Results:Using ADA-2011 glycaemic categories, 33% (n=693) of Cohort 1 (prediabetes) had normal glucose regulation (NGR), and 67% (n=1419) had impaired glucose regulation (IGR). 76% of the cohort was male, age=62(6.2) years; BMI=27.9(4.0) kg/m2; fasting glucose=5.7(0.6) mmol/l; 2-hr glucose=5.9(1.6) mmol/l [mean(SD)]. At follow-up, 18.6(1.4) months after baseline, fasting glucose=5.8(0.6) mmol/l; 2-hr OGTT glucose=6.1(1.7) mmol/l [mean(SD)]. In Cohort 2 (diabetes): 65% (n=508) were lifestyle treated (LS) and 35% (n=271) were lifestyle + metformin treated (LS+MET). 58% of the cohort was male, age=62(8.1) years; BMI=30.5(5.0) kg/m2; fasting glucose=7.2(1.4)mmol/l; 2-hr glucose=8.6(2.8) mmol/l [mean(SD)]. At follow-up, 18.2(0.6) months after baseline, fasting glucose=7.8(1.8) mmol/l; 2-hr MMTT glucose=9.5(3.3) mmol/l [mean(SD)].Conclusion:The epidemiological IMI DIRECT cohorts are the most intensely characterised prospective studies of glycaemic deterioration to date. Data from these cohorts help illustrate the heterogeneous characteristics of people at risk of or with T2D, highlighting the rationale for biomarker stratification of the disease - the primary objective of the IMI DIRECT consortium.Abbreviations:ASATAbdominal subcutaneous adipose tissueDIRECTDiabetes Research on Patient StratificationEUEuropean UnionMMTTMixed-meal tolerance testMRIMagnetic resonance imaginghpfVMHigh-pass filtered vector magnitudeIAATIntra-abdominal adipose tissueIGRImpaired glucose regulationIMIInnovative Medicines InitiativeMEmultiechoNGRNormal glucose regulationOGTTOral glucose tolerance testPAPhysical activityTAATTotal abdominal adipose tissueT2DType 2 Diabetes

scholarly journals Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia

Neurogenetics ◽  
2021 ◽  
Author(s):  
Ali S. Shalash ◽  
Thomas W. Rösler ◽  
Mohamed Salama ◽  
Manuela Pendziwiat ◽  
Stefanie H. Müller ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Autosomal Recessive ◽  
Cancer Susceptibility ◽  
The Other ◽  
Multisystem Disorder ◽  
Serine Threonine Kinase ◽  
Variant Of Uncertain Significance ◽  
Threonine Kinase ◽  
Uncertain Significance ◽  
Severe Ataxia

AbstractAtaxia telangiectasia is a rare autosomal recessive multisystem disorder caused by mutations in the gene of ATM serine/threonine kinase. It is characterized by neurodegeneration, leading to severe ataxia, immunodeficiency, increased cancer susceptibility, and telangiectasia. Here, we discovered a co-segregation of two ATM gene variants with ataxia telangiectasia in an Egyptian family. While one of these variants (NM_000051.4(ATM_i001):p.(Val128*)) has previously been reported as pathogenic, the other one (NM_000051.4(ATM_i001):p.(Val1729Leu)) is regarded as a variant of uncertain significance. Our findings in this family provide additional evidence for causality of the second variant and argue that its status should be changed to pathogenic.

scholarly journals Retrospective Analysis of EEG in Patients With COVID-19: EEG Recording in Acute and Follow-up Phases

2021 ◽  
pp. 155005942110359
Author(s):  
Isabel Sáez-Landete ◽  
Adriana Gómez-Domínguez ◽  
Beatriz Estrella-León ◽  
Alba Díaz-Cid ◽  
Olga Fedirchyk ◽  
...  
Keyword(s):  
Retrospective Analysis ◽  
Poor Prognosis ◽  
Low Voltage ◽  
Clinical Status ◽  
Epileptic Activity ◽  
Common Finding ◽  
Treatment Type ◽  
Eeg Abnormalities ◽  
Sedative Drugs

Background. Interest in electroencephalographic (EEG) coronavirus disease 2019 (COVID-19) findings has been growing, especially in the search for a specific-features EEG of encephalopathy. Methods. We made a retrospective analysis of 29 EEGs recorded in 15 patients with COVID-19 and neurological symptoms. We classified the EEGs as “Acute EEG” and “follow-up EEG.” We did a statistical analysis between voltage and respiratory status of the patient, stay or not in the intensive care unit (ICU), days of stay in the ICU, sedative drugs, pharmacological treatment, type of symptoms predominating, and outcome. Results. We found EEG abnormalities in all patients studied. We observed the amplitude of background <20 µV at 93% of “acute EEG,” versus only 21.4% of “follow-up EEG.” The average voltage went from 12.33 ± 5.09 µV in the acute EEGs to 32.8 ± 20.13 µV in the follow-up EEGs. A total of 60% of acute EEGs showed an intermittent focal rhythmic. We have not found a statistically significant association between voltage of acute EEG and nonneurological clinical status (including respiratory) that may interfere with the EEG findings. Conclusions. Nonspecific diffuse slowing EEG pattern in COVID-19 is the most common finding reported, but we found in addition to that, as a distinctive finding, low voltage EEG, that could explain the low prevalence of epileptic activity published in these patients. A metabolic/hypoxic mechanism seems unlikely on the basis of our EEG findings. This pattern in other etiologies is reminiscent of severe encephalopathy states associated with poor prognosis. However, an unreactive low voltage pattern in COVID-19 patients is not necessarily related to poor prognosis.

scholarly journals Association between FGF-19, FGF-21 and lipocalin-2, and diabetes progression in PCOS

2021 ◽  
Author(s):  
Feifei Cheng ◽  
Noel Yat Hey Ng ◽  
Claudia Ha Ting Tam ◽  
Yuying Zhang ◽  
Cadmon King Poo Lim ◽  
...  
Keyword(s):  
Fasting Glucose ◽  
Polycystic Ovary ◽  
Tolerance Test ◽  
Oral Glucose ◽  
Lipocalin 2 ◽  
Baseline Serum ◽  
Protein Levels ◽  
Increased Risk ◽  
Diabetes Progression

Women with polycystic ovary syndrome (PCOS) have an increased risk of developing type 2 diabetes. FGF-19, FGF-21 and lipocalin-2 have emerged as important markers of metabolic risk. This study aims to compare the levels of FGF-19, FGF-21 and lipocalin-2 between subjects with and without PCOS, and to investigate the relationship between the proteins and diabetes progression. In this nested case-control cohort study, 128 Chinese PCOS women and 128 controls were recruited and followed up. All subjects underwent the oral glucose tolerance test for the evaluation of glycaemic status. Baseline serum protein levels were measured using ELISA. Compared with controls, PCOS subjects had higher levels of FGF-19 (P<0.001) and FGF-21 (P=0.022), but lower lipocalin-2 (P<0.001). In total, 20.8% of PCOS and 9.2% of controls developed diabetes over a mean duration of 10.4 ± 1.2 and 11.3 ± 0.5 years, respectively. Logistic regression analyses suggested FGF-19 was positively associated with diabetes progression in controls, after adjusting for age, follow-up duration, waist and fasting glucose (P=0.026, OR (95% CI): 7.4 (1.3-43.6)), and the positive relationship between FGF-21 and diabetes progression in controls was attenuated by adjusting for age and follow-up duration (P=0.183). Lipocalin-2 was positively correlated with diabetes progression in PCOS group (P=0.026, OR (95% CI)): 2.5 (1.1-5.6)), however, this became attenuated after adjusting for waist and fasting glucose (P=0.081). In conclusion, there is differential expression of FGF-19, FGF-21 and lipocalin-2 in PCOS. The serum level of FGF-19, FGF-21 are associated with diabetes progression in women without PCOS, while lipocalin-2 was related to diabetes progression in PCOS women.

Sound Production Treatment for Acquired Apraxia of Speech: An Examination of Dosage in Relation to Probe Performance

2020 ◽  
pp. 1-16
Author(s):  
Julie L. Wambaugh ◽  
Lydia Kallhoff ◽  
Christina Nessler
Keyword(s):  
Retrospective Analysis ◽  
Sound Production ◽  
Apraxia Of Speech ◽  
Practice Schedule ◽  
Practice Schedules ◽  
Baseline Performance ◽  
The Mean ◽  
Number Of Treatment ◽  
The Impact

Purpose This study was designed to examine the association of dosage and effects of Sound Production Treatment (SPT) for acquired apraxia of speech. Method Treatment logs and probe data from 20 speakers with apraxia of speech and aphasia were submitted to a retrospective analysis. The number of treatment sessions and teaching episodes was examined relative to (a) change in articulation accuracy above baseline performance, (b) mastery of production, and (c) maintenance. The impact of practice schedule (SPT-Blocked vs. SPT-Random) was also examined. Results The average number of treatment sessions conducted prior to change was 5.4 for SPT-Blocked and 3.9 for SPT-Random. The mean number of teaching episodes preceding change was 334 for SPT-Blocked and 179 for SPT-Random. Mastery occurred within an average of 13.7 sessions (1,252 teaching episodes) and 12.4 sessions (1,082 teaching episodes) for SPT-Blocked and SPT-Random, respectively. Comparisons of dosage metric values across practice schedules did not reveal substantial differences. Significant negative correlations were found between follow-up probe performance and the dosage metrics. Conclusions Only a few treatment sessions were needed to achieve initial positive changes in articulation, with mastery occurring within 12–14 sessions for the majority of participants. Earlier occurrence of change or mastery was associated with better follow-up performance. Supplemental Material https://doi.org/10.23641/asha.12592190

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