Diabetes Mellitus Type 1 Patients Research Articles

Integrated assessment of temporal, structural and spatial parameters of dynamic retinal vessel behaviour in diabetes mellitus type 1

AbstractVascular risk factors contribute to the development of diabetes mellitus. Dynamic retinal vessel analysis is usually defined as non‐invasive clinical observation of the reaction of retinal vessels to a physiological stimulus. The data which is thus generated may be further analysed with respect to dynamic time‐dependent and spatial vessel behaviour. We assume that assessment of different aspects of retinal vessel dynamics highlights different peculiarities of the underlying disease and allow for specific and sensitive characterization of vascular pathology. This concept of multimodal analysis of pathologic retinal vessel behaviour was performed for the example of diabetes mellitus type 1 (DM1). 35 untreated DM1 patients with no or non‐proliferative retinopathy and 35 age and gender matched medically healthy volunteers were examined by Dynamic Vessel Analyser (DVA, IMEDOS, Jena, Germany). Different aspects of dynamic retinal vessel behaviour were evaluated. Together with the examination of retinal vessel reaction to flickering light unstimulated vessel wall behaviour and pulse wave propagation were assessed using mathematical signal analysis. Additionally differences in amplitude and frequency of spatial vessel diameter changes along the measured vessel segments were analysed to assess the microstructure of retinal vascular blood columns. Significant differences in several structural and functional parameters of retinal vessels in diabetes mellitus type 1 were found. Particularly retinal vessel dilation in response to flickering light was diminished both in arteries as well as in veins and delayed in arteries; longitudinal sections of retinal arteries in DM1 patients without retinopathy possessed more mid frequency roughness (one oscillation in ~250 ÷ 416 μm) than longitudinal sections of patients with retinopathy; both retinal venous pulsations (period <1.5 s) and vasomotions (period ≥1.5 s) showed higher rate of periodicity in DM1 than in the control group. These results might indicate alterations in vascular endothelial function, smooth musculature and retinal vessel wall rigidity in diabetes mellitus, leading to altered perfusion and vascular regulation following metabolic demand in the central microcirculation. Dynamic vessel analysis includes valuable information beyond conventional DVA evaluation of temporal vessel reaction to flicker. This allows for detailed individual characterization of vascular damage and further understanding of underlying disease pathology.

Is there a relationship between the prevalence of autoimmune thyroid disease and diabetic kidney disease?

Autoimmune thyroid disease (AITD) is more common among diabetes mellitus (DM) patients and may impact its microvascular complications. The present study aimed to assess the relationship between AITD and the prevalence of diabetic kidney disease (DKD) in patients with diabetes mellitus type 1 (DM1). Anthropometric parameters, parameters of metabolic control of DM, thyreometabolic status, and the UACR were assessed. DKD was diagnosed if patients’ UACR level was ≥30 mg/g or eGFR level was <60 mL/min. This study involved 144 patients with DM1 aged 36.2 ± 11.7 years: 49 men and 95 women. Significant differences in creatinine, eGFR, and UACR levels were found in patients with DKD. fT3 concentration was significantly lower among DKD patients. A significantly higher probability of DKD was found in DM1 patients with lower fT3 levels. Patients with DM1 and AITD had significantly lower creatinine levels than the control group. However, the study did not show any significant relationship between AITD and the occurrence of DKD in patients with DM1. Significantly lower fT3 concentrations in DKD patients may be caused by metabolic disorders in the course of DKD and require further cohort studies in a larger population of patients with DM1 and AITD.

Fractional-order Adaptive Fuzzy Backstepping Algorithm for Automated Control of Blood Glucose in Diabetes Mellitus Type 1 Patients

Abstract This study proposes a fractional-order control for the automatic stabilization of the blood glucose level in Diabetes Mellitus Type-1 patients. The control scheme under study, which is applied to a fractional Extended Bergman’s minimal model (EBMM), combines the feedback form of backstepping technique with three fractional Takagi–Sugeno fuzzy systems. This allows getting rid of the requirements of the patient parameters knowledge and aims to attenuate the effect of disturbances to the blood glucose level during meal intake. A mathematical analysis has been done to prove the asymptotic stability using a fractional Lyapunov function. To demonstrate the effectiveness of the fractional proposed approach, a comparative study with other methods is presented.

Comparison of the Salivary Levels of Homocysteine and C-Reactive Protein in Type 1 Diabetic Patients and Healthy Individuals

Background: Diabetes mellitus type 1 (DM-1) is associated with pancreatic beta-cell destruction, inflammatory processes, and cardiovascular disorders. C-reactive protein (CRP) and homocysteine are considered as inflammatory processes and cardiovascular disorder indicators that can be used for monitoring patients with DM-1. The present study aimed to compare the salivary levels of homocysteine and CRP of DM-1 patients with those of healthy people. Methods: In this case-control study, 82 patients participated, including 41 DM-1 patients (case group) and 41 healthy people (control group). The case and control groups were matched in terms of age, gender, and body mass index, and 5 mL of the saliva was collected from each participant. Then, the salivary levels of CRP and homocysteine were measured for each patient. Finally, several parameters were recorded for diabetic patients, including fasting blood glucose (FBS), 2-hour postprandial glucose (2hpp), and glycosylated hemoglobin (HbA1c), as well as the duration of the disease and the type and amount of insulin injections. Eventually, data were analyzed by SPSS software using descriptive statistics, independent t-test, and Pearson correlation coefficient. Results: The salivary CRP and homocysteine concentration had no significant difference between patients and controls (P&gt;0.05). There was no significant correlation between the salivary level of homocysteine and CRP and FBS, 2hpp, HbA1c, albuminuria, duration of disease, type and amount of insulin injection (P&lt;0.05). Conclusions: According to the results of the current study, the measurement of the salivary levels of CRP and homocysteine could not be helpful for monitoring patients with DM-1.

Cancer frequency among the patients with myotonic dystrophy in the South Korean population using the national health insurance database

Cancer frequency among the patients with myotonic dystrophy in the South Korean population using the national health insurance database

Transcriptome Alterations in Myotonic Dystrophy Frontal Cortex

Myotonic dystrophy (dystrophia myotonica, DM) is caused by expanded CTG/CCTG microsatellite repeats, leading to multi-systemic symptoms in skeletal muscle, heart, gastrointestinal, endocrine, and central nervous systems (CNS), among others. For many patients, CNS issues can be as debilitating or more so than muscle symptoms; they include hypersomnolence, executive dysfunction, white matter atrophy, and neurofibrillary tangles. Although transcriptomes from DM type 1 (DM1) skeletal muscle have provided useful insights into pathomechanisms and biomarkers, limited studies of transcriptomes have been performed in the CNS. To elucidate underlying causes of CNS dysfunction in patients, we have generated and analyzed RNA-seq transcriptomes from the frontal cortex of 21 DM1 patients, 4 DM2 patients, and 8 unaffected controls. One hundred and thirty high confidence splicing changes were identified, most occurring exclusively in the CNS and not in skeletal muscle or heart. Mis-spliced exons were found in neurotransmitter receptors, ion channels, and synaptic scaffolds, and we identified an alternative exon in GRIP1 that modulates association with kinesins. Splicing changes exhibited a gradient of severity correlating with CTG repeat length, as measured by optical mapping of individual DNA molecules. All individuals studied, including those with modest splicing defects, showed extreme somatic mosaicism, with a subset of alleles having >1000 CTGs. Analyses of gene expression changes showed up-regulation of genes transcribed in microglia and endothelial cells, suggesting neuroinflammation, and down-regulation of genes transcribed in neurons. Gene expression of RNAs encoding proteins detectable in cerebrospinal fluid were also found to correlate with mis-splicing, with implications for CNS biomarkers of disease severity. These findings provide a framework for future mechanistic and therapeutic studies of CNS issues in DM.

CTG Expansion in the DMPK Gene: Semen Quality Assessment and Outcome of Preimplantation Genetic Diagnosis.

Myotonic dystrophy (DM) is an autosomal dominant disorder characterized mainly by myotonia but also by primary hypogonadism. No study has reported on fertility management of patients affected by DM type 1 (DM1). This study investigates the impact of CTG repeats in the DMPK gene on semen quality and preimplantation genetic diagnosis (PGD) outcome. This is a monocentric retrospective observational study conducted from January 2003 to January 2019. Antoine Béclère University Hospital, Clamart, France. Three groups were compared in this study: male DM1 patients (Group A, n = 18), unaffected partners of DM1 female patients (Group B, n = 30), and proven fertile men (Group C, n = 33). Reproductive outcomes after PGD were compared between groups A and B. Sperm volume was reduced in group A (2.0 mL) when compared with groups B (3.0 mL; P < 0.01) and C (3.5 mL; P < 0.01). Progressive motility in raw sperm was also decreased in group A (30%) as compared to group C (40%; P < 0.01). The median number of progressive spermatozoa retrieved after sperm preparation was 2.7 million (M) in group A, which was significantly less than those of groups B (10.0 M; P < 0.01) and C (62.2 M; P < 0.01). Sperm motility was inversely correlated to the number of CTG repeats (Spearman r2 = 0.48, Pearson r2 = 0.35). Cumulative live birth rate per transfer was similar between groups, with 32.2% in group A versus 26.8% in group B. As a precautionary measure, we advise physicians to perform regular monitoring of semen quality in affected males, which would allow sperm cryopreservation should semen parameters fall. PGD allows good reproductive outcomes without disease transmission.

Can hypoglycemic episodes in type 1 diabetics trigger cardiac arrhythmias?

BackgroundSudden nocturnal death is a syndrome that usually affects patients with diabetes mellitus type 1 (DM1), being described mainly due to ventricular arrhythmias in response to nocturnal hypoglycemia. ObjectivesEvaluate the relation between hypoglycemia and ventricular arrhythmias in patients with DM1 and normal structural heart. MethodProspective, observational study with DM1 patients and normal structural heart on echocardiogram aged 18–60 years, of both sexes receiving insulin therapy for at least five years. Intermittent glucose reading device was implanted (iPro2 – Medtronic/USA) and 24hr ambulatory electrocardiographic recording by the Holter system (Cardios Systems – Brazil). Patients were monitored for hypoglycemia without any type of induction (interstitial glucose <70 mg/dl) and cardiac arrhythmias within 24 h. ResultsThirty-two patients were evaluated, with mean-age of 35 years, being 16 men. Eleven patients (34%) did not have hypoglycemia, other 3 (27.3%) also had no arrhythmia, while 8 (72.7%) had arrhythmias interpreted as irrelevant. The other 21 patients (66%) presented some hypoglycemic episodes and 10 (47.6%) did not present arrhythmias, whereas 11 (52.4%) presented arrhythmias considered not clinically significant, as also found in non-diabetic individuals. ConclusionIn patients with DM1 without structural heart disease there was no relationship between cardiac arrhythmia and episodes of hypoglycemia.

SALT-SENSITIVE BLOOD PRESSURE RISE IN TYPE 1 DIABETES IS ACCOMPANIED BY INCAPACITY FOR VASODILATION – A RANDOMIZED EXPERIMENTAL CROSS-OVER STUDY

Objective: Diabetes mellitus type 1 (DM1) is suggested to be associated with salt sensitivity. However, strong evidence to support this is scarce, and the pathophysiology is not known. For a long time, the volume-regulating function of the kidney was thought to be the only important factor in salt-sensitive hypertension. Due to insufficient sodium excretion by the kidney, sodium excess was considered to increase extracellular fluid volume (ECFV) and cardiac output (CO), resulting in a blood pressure (BP) rise. However, recent publications put forward that systemic vascular resistance (SVR) might be central in BP regulation. We hypothesized that in salt-sensitive hypertension in DM1, vasodysfunction rather than increases in ECFV and CO plays a role.Design and method: We included 8 DM1 patients and 12 age-matched healthy controls (HC), with normal BP, body mass index, and kidney function. All subjects adhered to an 8-day low salt diet (LSD) and an 8-day high salt diet (HSD), in randomized order. After each diet, hemodynamic measurements included BP (Omron) and CO (Nexfin™), and SVR was calculated accordingly. To assess volume-dependent changes, ECFV, interstitial fluid volume (IFV) and plasma volume (PV) were calculated by the use of iohexol and 125I-albumin distribution. HC were divided in two subgroups: those with versus those without a BP increase after HSD. Results: After HSD, patients with DM1 showed a BP increase (mean arterial pressure HSD vs LSD (85 (5) mmHg vs. 80 (3) mmHg; P = 0.03) while BP in HC did not rise (78 (5) mmHg vs. 78 (5) mmHg; P = 0.85). The difference in BP response was not accompanied by differences in urinary sodium excretion between the DM1 patients and HC (Figure 1) nor by differences in CO, ECFV or ICF (Table 1). HC without a BP increase after HSD (n = 5) showed a SVR reduction after HSD, while this reduction was not present in the HC with a BP increase after HSD (n = 7) or in the DM1 patients (Figure 2, Table 1). Conclusions: DM1 is associated with increased salt sensitivity compared to HC, coinciding with incapacity for vasodilation.

Tissue Doppler Imaging versus Conventional Echocardiography in Evaluation of Cardiac Functions in Diabetes Mellitus

Background: Conventional echocardiography and tissue Doppler imaging have been highlighted to diagnose diastolic and systolic heart dysfunction. We aimed to compare tissue Doppler imaging with conventional echocardiography to diagnose heart dysfunctions in diabetes mellitus type 1 (DMT1) patients. Materials and Methods: This case-control study was conducted in the Ali Asghar Clinic, Zahedan, Iran. The study lasted from 2017 to 2018 on 140 participants aged from 4-18 years, and consisted of 70 patients with DMT1, and 70 children who referred to hospital for checkup as control group. The participants went under tissue Doppler imaging andconventional echocardiography (M mode and 2D) by an invariable cardiologist. The 5 ml blood samples were taken to test blood leptin and ferritin. The data were analyzed using SPSS software (version 18.0). Results: Conventional findings such as left and right deceleration time, left, and right peak E velocity, left ejection time, left Myocardial performance index and TDI findings such as left, and right ET’, right S’, right E’, left MPI’, right MPI’, and left E/E’ were different in patients and the control group (p<0.05). Left and right deceleration time, and LV Mass index in conventional and left ET’, right ET’ in TDI were different in age groups of patients (p<0.05). In sex groups, left deceleration time, left peak A velocity, right acceleration time, right deceleration time and right E/A in conventional and left ET’, left ICT’, left IRT’, right ICT’, right IRT’, right S’ and right MPI’ in TDI were different (p<0.05). Conclusion: This study concluded that both conventional and TDI were different between DMT1 patients and the control group, but TDI was stronger in discrimination.

Effect of diabetes mellitus type 1 diagnosis on the corneal cell densities and nerve fibers.

Relation of diabetes mellitus (DM) to the various stages of corneal nerve fiber damage is well accepted. A possible association between changes in the cornea of diabetic patients and diabetic retinopathy (DR), DM duration, and age at the time of DM diagnosis were evaluated. The study included 60 patients with DM type 1 (DM1) and 20 healthy control subjects. The density of basal epithelial cells, keratocytes and endothelial cells, and the status of the subbasal nerve fibers were evaluated using in vivo corneal confocal microscopy. Basal epithelial cell density increased with age (p=0.026), while stromal and endothelial cell density decreased with age (p=0.003, p=0.0005, p<0.0001). After the DM1 diagnosis was established, this association with age weaken. We showed nerve fiber damage in DM1 patients (p<0.0001). The damage correlated with the degree of DR. DM1 patients with higher age at DM1 diagnosis had a higher nerve fiber density (p=0.0021). These results indicated that age at DM1 diagnosis potentially has an important effect on final nerve fiber and corneal cell density.

Celiac Disease and Celiac Antibodies in DM1 Patients: When Are Screening and Biopsy Recommended?

The prevalence of celiac disease (CD) is increased in diabetes mellitus type 1 (DM1) patients. In most cases, CD is diagnosed in asymptomatic patients and hence periodic screening tests are recommended, but the timing, frequency of tests and indication for duodenal biopsy is unclear. The purpose of this study was to investigate the dynamics of CD serology in DM1 and identify risk factors for CD. Celiac serology and duodenal biopsy results from 1990 until 2015 were collected from patients with DM1. The outcome of positive celiac serology, the incidence and risk factors for CD in DM1 patients were investigated. A total of 314 DM1 patients who had celiac serology were identified, with follow-up period up to 23years. Of 31 patients (9.9%) with positive celiac serology, 11(35.4%) had spontaneous normalization after various time periods. Eighteen patients were diagnosed with CD (58.1% of positive celiac serology, 5.73% of the study cohort). Age under 4.5years was a risk factor for CD, but not family background of autoimmune diseases or gender. All patients with CD diagnosis were diagnosed during the first 6years following DM1 diagnosis. Screening asymptomatic DM1 patients for CD beyond 6years after diagnosis is not recommended. Spontaneous normalization of CD serology occurs, and hence, serologic follow-up may be performed. In children with DM1 diagnosis under the age of 4.5years or with positive CD serology at DM1 diagnosis, there is an increased risk for CD and therefore positive serology should lead to biopsy.

Diabetic ketoacidosis; Annual Incidence and Precipitating Factors at King Abdulaziz Medical city, Jeddah

Introduction: Diabetes is a recognizable and major health burden in Saudi Arabia. The incidence of Diabetes Mellitus Type 1 (DM1) reached 109.5 per 100,000 child and adolescent. One of the major life-threatening complications of DM1 is Diabetic Ketoacidosis (DKA). This study aims to estimate DKA incidence among DM1 patients and possible risk factors. Methods: Retrospective review for DM1 patients at King Abdul-Aziz Medical City, and who was presented with DKA during the past six and half years. Results: Three hundred and fifty DM1 patients were included and (72) experienced DKA during study period. The average annual DKA onset was (6.2%). Mean age was (22.82 ± 5.567) years, and females constituted (66.7%) of this group. Poor medication compliance was the commonest risk factor associated with DKA, and this relationship was found significant (P-value 0.003). Out of the total DKA sufferers, (28) patients experienced recurrent or multiple DKA episodes, and those had higher HbA1C levels (11.7 ± 2.9 Vs 12.4 ± 3.3). Patients who had multiple DKA episodes reported less visits to the diabetes educator when compared to the single DKA group. (On average (9) Vs (11) per year). Conclusion: DKA was found relatively uncommon among our DM1 patients, and usually seen in young females with poor medication compliance. More comprehensive education on DKA is needed to protect against life threatening complications.

The modulation of enzyme indoleamine 2,3-dioxygenase from dendritic cells for the treatment of type 1 diabetes mellitus.

Diabetes mellitus type 1 (DM1) is an autoimmune disease in which β-cells of the pancreas islet are destroyed by T lymphocytes. Specific T cells are activated by antigen-presenting cells, mainly dendritic cells (DCs). It is already known that the regulation of tryptophan pathway in DC can be a mechanism of immunomodulation. The enzyme indoleamine 2,3-dioxygenase (IDO) is present in many cells, including DC, and participates in the metabolism of the amino acid tryptophan. Recent studies suggest the involvement of IDO in the modulation of immune response, which became more evident after the in vitro demonstration of IDO production by DC and of the ability of these cells to inhibit lymphocyte function through the control of tryptophan metabolism. Current studies on immunotherapies describe the use of DC and IDO to control the progression of the immune response that triggers DM1. The initial results obtained are promising and indicate the possibility of developing therapies for the treatment or prevention of the DM1. Clinical trials using these cells in DM1 patients represent an interesting alternative treatment. However, clinical trials are still in the initial phase and a robust group of assays is necessary.

Quality of life perception of type 1 diabetic patients treated with insulin analogs and receiving medication review with follow-up in a public health care service from Ponta Grossa-PR, Brazil

Glycemic control in patients with diabetes mellitus type 1 (DM1) reduces the risk of complications but requires a rigorous health care routine. Thus, diabetes education is central to increasing treatment compliance and self-care practices. This study aimed to evaluate the quality of life (QoL) and glycemic control of DM1 patients being treated with insulin analogs and receiving medication review with follow-up. This was a transversal study that included 110 patients registered at the 3rd Health Regional of Ponta Grossa-PR, aged ≥ 18 years, and receiving pharmaceutical care for at least 1 year. The Diabetes Quality of Life Measure (DQOL)-Brazil was used to evaluate QoL. The data were statistically analyzed using SPSS version 17.0 with 95% confidence levels. Of the 110 patients, 58.2% were women. The average age was 33.7 years (±10.5), and the average glycated hemoglobin (HbA1c) value was 8% (±1.4). The mean total DQOL-Brazil score was 2.11 (95% confidence interval, 2.02 - 2.21). All DQOL-Brazil scores were lower in patients with HbA1c ≤ 8%, indicating a better QoL. Good glycemic control, thus, appears to have a positive influence on the QoL, and pharmaceutical interventions are able to contribute to the achievement of therapeutic targets.

Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2.

Neuropsychological examinations in myotonic dystrophy (DM) patients show a great variability of results from a condition of intellectual disability to the subtle cognitive impairments. It is unclear if different clusters of neuropsychological deficits appear in different phenotypes of DM, or if there are patients with no cognitive deficit at all. The aim of this study is to assess cognitive impairments among patients with different phenotypes of DM type 1 (DM1) and type 2 (DM2), and to potentially define cognitive clusters in these disorders. Study comprised 101 DM1 and 46 DM2 adult patients who were genetically confirmed. Patients underwent analysis of five cognitive domains (visuospatial, executive, attention, memory and language). Virtually all DM1 patients had cognitive defect with approximately 2-3 cognitive domains affected. On the other hand, one-third of DM2 patients had completely normal neuropsychological findings, and in other two-thirds approximately 1-2 domains were affected. Cluster analysis showed that in both diseases visuospatial and executive dysfunctions seemed to be the main cognitive defects, while memory and language impairments appeared in more severe phenotypes. Our results showed that a single form of DM1 or DM2 may consist of several cognitive clusters. Understanding of cognitive impairments in DM is very important to follow positive and side effects in ongoing and future clinical trials.

Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

Recent studies documented an increased risk of neoplasm in patients with myotonic dystrophies (DM). Yet, none of these studies evaluated the contribution of common cancer risk factors in such observation. In this study, we included a cohort of patients (n = 255) with an established molecular diagnosis of DM type 1 (DM1), and who receives their treatment in one of the four centers with recognized expertise in neuromuscular disorders in Rome. We estimated the prevalence of benign and malignant tumors, and assessed if lifestyle factors and/or specific disease features would be associated to their occurrence. Overall, 59 benign tumors in 54 patients and 19 malignant tumors in 17 patients were diagnosed. The most common malignant neoplasms were cancers of the skin (31.6%), thyroid (21.0%), ovary (10.5%), and breast (10.5%). Uterine fibroid was the most common benign tumor (37.6%) in women, while pilomatricoma was the most common in men (28.6%). Age at enrollment (OR = 1.02, 95% CI 1.00-1.05), and female gender (OR = 5.71, 95% CI 2.90-11.22) were associated with tumor development in DM1 patients, while thyroid disorders was associated with malignant tumors only in women (OR = 5.12, 95% CI 1.35-19.37). There was no association between tumor development and evaluated lifestyle factors. In conclusion, the lack of association between common cancer risk factors and tumor development in DM1 support a pathogenic link between tumors and DM1 itself, emphasizing the need for a systematic surveillance. Our observation of an association between thyroid diseases in women and cancer development needs confirmation.

Correction of Retrograde Ejaculation in Patients with Diabetes Mellitus Using Endourethral Collagen Injection: Preliminary Results.

Diabetic neuropathy secondary to diabetes mellitus type 1 (DM1) is responsible for retrograde ejaculation (RE) in 5-18% of cases. Medical treatment of RE is based either on increasing the sympathetic tone of the bladder or on decreasing the parasympathetic activity. However, the onset of side effects and the lack of response should be considered. The aim of this study was to analyze long-term outcome of endourethral injection of volume-forming material (VFM) of collagen type 2 into bladder neck submucosa in patients with RE secondary to DM1. Twenty-four patients with complete RE refractory to imipramine and DM1 were included in the study. Patients were single-blinded randomized according to a computer-generated random sequence with a 1:1 ratio in two treatment groups, namely group A (endourethral collage type 2 injection) and group B (endourethral saline water injection). New technique includes an endoscopic injection of VFM such as collagen (Correcting MIT®, Ltd. minimally invasive technologies, Moscow, Russia) into bladder neck submucosa. Primary endpoint of the study was the reduction of semen antegrade volume (mL). Secondary endpoints were considered as the changes of antegrade count (millions/mL), antegrade total motility (%), antegrade progressive motility (%), State-Trait Anxiety Inventory, Beck Depression Questionnaire and International Index of Erectile Function (IIEF-5). Pregnancy rate was calculated in each group. Twenty-three patients completed the study. In group A, significant differences from baseline to 12 months were observed relative to antegrade volume (mL) (mean difference: 0.71, P < 0.05), antegrade count (millions/mL) (mean difference: 45.6, P < 0.05), antegrade total motility (%) (mean difference: 15.4, P < 0.05) and antegrade progressive motility (%) (mean difference: 8.4, P < 0.05). In group A, we observed significant differences in terms State-Trait Anxiety Inventory (mean difference: -20.5, P < 0.05) and Beck Depression Inventory (mean difference: -8.4, P < 0.05) with significant differences compared with group B. We observed significant improvements in group A vs. group B when considering primary and secondary endpoints of the study, but not for the IIEF-5. Correction of RE in DM1 patients could be achieved with endourethral injection of collagen type 2.

Diagnostic odyssey of patients with myotonic dystrophy

The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes the diagnostic delay (time from onset of first symptom to diagnosis) in a large sample of myotonic dystrophy (DM) patients enrolled in the US National Registry [679 DM type 1 (DM1) and 135 DM type 2 (DM2) patients]. Age of onset averaged 34.0 ± 14.1 years in DM2 patients compared to 26.1 ± 13.2 years in DM1 (p < 0.0001). The most common initial symptom in DM2 patients was leg weakness (32.6 %) compared to grip myotonia in DM1 (38.3 %). Pain was reported as the first symptom in 11.1 % of DM2 and 3.0 % of DM1 patients (p < 0.0001). Reaching the correct diagnosis in DM2 took 14 years on average (double the time compared to DM1) and a significantly higher percentage of patients underwent extended workup including electromyography, muscle biopsies, and finally genetic testing. DM patients who were index cases experienced similar diagnostic delays to non-index cases of DM. Further evaluation of how to shorten these diagnostic delays and limit their impact on burdens of disease, family planning, and symptom management is needed.

Trabecular Bone Mineral Density and Bone Geometry of the Distal Radius at Completion of Pubertal Growth in Childhood Type 1 Diabetes

Aim: To identify disease-related risk factors for an altered bone mineral density (BMD) and geometry at young adulthood in patients with diabetes mellitus type 1 (DM1). Methods: Fifty-six DM1 patients (23 females, 33 males) with prepubertal onset of diabetes were studied after completion of skeletal growth. Bone parameters at the distal radius were investigated by peripheral quantitative computed tomography. Disease-related parameters, in particular average HbA1c during the 2 years around peak height velocity, were analyzed. Forty-seven healthy controls (32 females, 15 males) were studied. Results: Trabecular BMD was similar between DM1 patients and controls. The mean (±SD) cross-sectional bone area (CSA) was smaller in DM1 patients compared to controls (282.5 ± 45.4 vs. 326.7 ± 52.2 mm², p = 0.002 and males 391.0 ± 61.3 vs. 423.4 ± 81.9 mm², p = 0.1). In female DM1 patients, the CSA z-score correlated negatively with the body mass index z-score (r = -0.52, p = 0.01) and positively with the height z-score (r = 0.49, p = 0.02). Conclusions: DM1 patients are at risk for smaller bone sizes at the distal radius at the end of pubertal growth, especially females with increased adiposity. Diabetes-specific parameters seem to have a low impact on forearm volumetric apparent mineral density.