scholarly journals Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1

2022 ◽  
Vol 19 (1) ◽  
pp. 520
Author(s):  
Giuseppina Salzano ◽  
Luciana Rigoli ◽  
Mariella Valenzise ◽  
Roberto Chimenz ◽  
Stefano Passanisi ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Respiratory Failure ◽  
Diabetes Insipidus ◽  
Cause Of Death ◽  
Autoimmune Diabetes ◽  
Heart Diseases ◽  
Wolfram Syndrome ◽  
Clinical Approach ◽  
Large Patient ◽  
The Mean

Wolfram syndrome 1 is a rare, autosomal recessive, neurodegenerative, progressive disorder. Insulin-dependent, non-autoimmune diabetes mellitus and bilateral progressive optic atrophy are both sensitive and specific criteria for clinical diagnosis. The leading cause of death is central respiratory failure resulting from brainstem atrophy. We describe the clinical features of fourteen patients from seven different families followed in our Diabetes Center. The mean age at Wolfram syndrome 1 diagnosis was 12.4 years. Diabetes mellitus was the first clinical manifestation, in all patients. Sensorineural hearing impairment and central diabetes insipidus were present in 85.7% of patients. Other endocrine findings included hypogonadotropic hypogonadism (7.1%), hypergonadotropic hypogonadism (7.1%), and Hashimoto’s thyroiditis (21.4%). Neuropsychiatric disorders were detected in 35.7% of patients, and urogenital tract abnormalities were present in 21.4%. Finally, heart diseases were found in 14.2% of patients. Eight patients (57.1%) died at the mean age of 27.3 years. The most common cause of death was respiratory failure which occurred in six patients. The remaining two died due to end-stage renal failure and myocardial infarction. Our data are superimposable with those reported in the literature in terms of mean age of onset, the clinical course of the disease, and causes of death. The frequency of deafness and diabetes insipidus was higher in our patients. The incidence of urogenital diseases was lower although it led to the death of one patient. Long-term follow-up studies including large patient cohorts are necessary to establish potential genotype-phenotype correlation in order to personalize the most suitable clinical approach for each patient.

scholarly journals AYURVEDIC APPROACH TO PREVENTION OF STROKE & HEART DISEASES FROM DIABETES MELLITUS

2021 ◽  
Vol 9 (5) ◽  
pp. 1027-1031
Author(s):  
Priyanka V. Dekate
Keyword(s):  
Diabetes Mellitus ◽  
Cause Of Death ◽  
Normal State ◽  
Causes Of Death ◽  
Preventive Measures ◽  
Heart Diseases ◽  
Research Work ◽  
Daily Regimen ◽  
Related Complication ◽  
The World

Madhumeha (Diabetes) is attracting the world as a non-infectious pandemic/epidemic. The prevalence of Diabetes is on the rise, more alarmingly in the developing country. Ranked 7th among leading causes of death. This multiplying incidence of CVS & heart diseases. Now days Ayurveda is of wise important to get swasthya, to prevent heart diseases & stroke from DM. The objectives of study are to evolve standard Ayurvedic drug & preventive measures for Madhumeha. This study is based on review of Ayurvedic Samhitas & previous research work. DM is the 6th leading cause of death in the world. Therefore, attempt should be made to balance the Dehamanas prakruti & normal state of physiological energy to prevent Diabetes Mellitus. Dinacharya (Daily regimen), Ashtavidha aahara vidhi Aayatana & herbo mineral drugs with Yogasana help to prevent diabetes & its related complication. Keyword: Madhumeha, stroke, Heart diseases.

Diabetes Mellitus Compromises Survival of Young Non Hodgkin Lmphoma Patients Treated with (R) CHOP Chemotherapy - a Retrospective Multicenter Analysis by Polish Lymphoma Study Group

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4844-4844
Author(s):  
Wojciech Jurczak ◽  
Joanna E Drozd-Sokolowska ◽  
Monika Joks ◽  
Justyna Dzietczenia ◽  
Tomasz Wrobel ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Cause Of Death ◽  
Large Scale ◽  
Autoimmune Diabetes ◽  
International Prognostic Index ◽  
Prognostic Index ◽  
Diabetic Patients ◽  
Chop Chemotherapy ◽  
Co Morbidity ◽  
Hodgkin's Lymphomas

Abstract Abstract 4844 Introduction CHOP-based chemotherapy is a standard I line regimen for most non-Hodgkin's lymphomas (NHL). All prognostic indices, like international prognostic index (IPI) for DLBCL, follicular lymphoma IPI (FLIPI), mantle cell lymphoma IPI (MIPI) assess the risk associated both with lymphoma and the patient's performance status/age. No co-morbidity scale is used on a large scale in evaluation of younger patients. The effect of diabetes mellitus (DM) was assessed in a large, multicenter, retrospective analysis. Materials and methods 610 young NHL patients (median age 55 years, range 18–86) treated with (R)-CHOP chemotherapy, from 7 PLRG centers were assessed (427 DLBCL, 70 MCL, 45 FL, 22 MZL, 8 CLL/SLL and 38 PTCL). Medical records of all non-Hodgkin's lymphoma patients treated with first line CHOP-based therapy have been reviewed in order to collect data concerning the type of lymphoma, coexistence of DM, type and treatment of DM, modification of treatment during (immuno)-chemotherapy and finally overall survival and cause of death. Patients with impaired glucose tolerance and post-steroid hyperglycemia/ diabetes which developed only after initiation of treatment were classified as non-diabetic patients. Results There were 43/610 (7%) diabetic patients. Type 2 DM was diagnosed in 40 patients (6.5%), one patient (0.16%) had LADA (Latent Autoimmune Diabetes of Adulthood) and two patients had prior post-steroid diabetes. The median duration of diabetes prior to lymphoma diagnosis was 5 years (range 1–25 years). Body Mass Index (BMI) at the moment of diagnosis was calculated for 31 patients (median 28.1, range 20.3–42.8). Six patients (19.4%) had normal weight while 25 (80.6%) patients were either overweighed (16, 51.6%) or obese (9, 29%). Age and other risk factor distribution was similar between diabetic and non-diabetic patients. Diabetic patients had significantly shorter survival compared to those without DM, with median OS of 3.3 years versus not reached at average observation of 5 years (p=0.001, Figure 1). Diabetes treatment modification undertaken during chemotherapy did not influence survival (p=0.64). Lymphoma progression was the most common cause of death in both DM and non-DM patients (41% and 45.5% respectively), followed by cardiovascular diseases (29.5% and 31% respectively). In DM patients we observed doubling of fatalities due to complications (predominantly infectious): 23.5% compared to 12.5 % in non diabetic patients. Conclusions Diabetic patients had shorter survival than non-diabetic patients in the analyzed group (p=0.001). While diabetic and non-diabetic patients had similar mortality rate due to lymphoma or cardiovascular complications, deaths secondary to infection complications were twice as frequent in DM cases. It probably correlates with sustained immunosuppression, aggravated by (immuno)-chemotherapy. Disclosures: Jurczak: Pharmacyclics: Research Funding.

scholarly journals Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Maryam Sobhani ◽  
Mohammad Amin Tabatabaiefar ◽  
Soudeh Ghafouri-Fard ◽  
Asadollah Rajab ◽  
Asal Hojjat ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neurodegenerative Disorder ◽  
Autoimmune Diabetes ◽  
Wolfram Syndrome ◽  
Clinical Diagnostics ◽  
Genetic Linkage Analysis ◽  
Diabetes Type Ii ◽  
Pathogenic Variants ◽  
High Prevalence ◽  
Syndromic Hearing Loss

Abstract Background Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy. Variants of WFS1 are also associated with non-syndromic hearing loss and type-2 diabetes mellitus (T2DM). Our study adds to literature significant associations between WS and T2DM. Case presentation In this study, we analyzed the clinical and genetic data of two families with high prevalence of WS and T2DM. Genetic linkage analysis and DNA sequencing were exploited to identify pathogenic variants. One novel pathogenic variant (c.2243-2244insC) and one known pathogenic (c.1232_1233delCT) (frameshift) variant were identified in exon eight of WFS1 gene. Conclusions The mutational and phenotypic spectrum of WS is broadened by our report of novel WFS1 mutation. Our results reveal the value of molecular analysis of WFS1 in the improvement of clinical diagnostics for WS. This study also confirms the role of WFS1 in T2DM.

Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome

2019 ◽  
Vol 30 (5) ◽  
pp. 1099-1105
Author(s):  
Melih Ustaoglu ◽  
Feyza Onder ◽  
Murat Karapapak ◽  
Hasan Taslidere ◽  
Dilek Guven
Keyword(s):  
Diabetes Mellitus ◽  
Optic Atrophy ◽  
Genetic Disorder ◽  
Plexiform Layer ◽  
Wolfram Syndrome ◽  
Inner Plexiform Layer ◽  
Fiber Layer ◽  
Genetic Analyses ◽  
Genetic Characteristics ◽  
The Mean

Purpose: To evaluate the ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome. Methods: In total, 13 patients with suspected or clinically diagnosed Wolfram syndrome underwent ophthalmic and systemic examinations and genetic analyses for Wolfram syndrome between August and October 2018. Results: The mean age of the subjects was 24.2 ± 7.1 years, of which 5 (38.5%) subjects were male and 8 (61.5%) were female. The mean best-corrected visual acuity ranged from counting fingers to 20/40, with a mean of 20/250 (1.10 ± 0.69 logarithm of the minimum angle of resolution). Dyschromatopsia was present in all patients (100%). There was a severe decrease in the average peripapillary retinal nerve fiber layer and macular ganglion cell–inner plexiform layer thicknesses (54.7 ± 6.5 and 51.9 ± 4.8 µm, respectively). Optical coherence tomography angiography showed significantly lower whole-image, inside disk, and peripapillary vessel densities in the patients with Wolfram syndrome than in the healthy controls (p < 0.001 for all). All patients who underwent genetic analyses had mutations in the WFS1 gene. Moreover, two novel mutations, p.Met623Trpfs*2 (c.1867delA) and p.Arg611Profs*9 (c.1832_11847del16) at exon 8, were detected. The frequency of systemic findings was as follows: optic atrophy (100%), diabetes mellitus (92.3%), central diabetes insipidus (38.5%), sensorineural hearing loss (38.5%), and presence of urological (30.8%), psychiatric (30.8%), and neurological (23.1%) diseases. Conclusion: Wolfram syndrome is a rare genetic disorder that can be associated with severe ophthalmic and systemic abnormalities. All patients who present with unexplained optic atrophy should be evaluated for Wolfram syndrome, even if they do not have diabetes mellitus because optic atrophy can sometimes manifest before diabetes mellitus.

scholarly journals Diabetes Mellitus and Optic Atrophy: A Study of Wolfram Syndrome in the Lebanese Population

2004 ◽  
Vol 89 (4) ◽  
pp. 1656-1661 ◽  
Author(s):  
R. Medlej ◽  
J. Wasson ◽  
P. Baz ◽  
S. Azar ◽  
I. Salti ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Neurodegenerative Disorder ◽  
Sensorineural Deafness ◽  
Microvascular Disease ◽  
Insulin Dependent Diabetes Mellitus ◽  
Wolfram Syndrome ◽  
Dependent Diabetes Mellitus ◽  
Number Of Patients

Abstract Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). WFS seems to be a heterogeneous disease that has not yet been fully characterized in terms of clinical features and pathophysiological mechanisms because the number of patients in most series was small. In this study we describe 31 Lebanese WFS patients belonging to 17 families; this, to our knowledge, is the largest number of patients reported in one series so far. Criteria for diagnosis of WFS were the presence of insulin-dependent diabetes mellitus and optic atrophy unexplained by any other disease. Central diabetes insipidus was found in 87% of the patients, and sensorineural deafness confirmed by audiograms was present in 64.5%. Other less frequent features included neurological and psychiatric abnormalities, urodynamic abnormalities, limited joint motility, cardiovascular and gastrointestinal autonomic neuropathy, hypergonadotropic hypogonadism in males, and diabetic microvascular disease. New features, not reported in previous descriptions, such as heart malformations and anterior pituitary dysfunction, were recognized in some of the patients and participated in the morbidity and mortality of the disease. Genetic analysis revealed WFS1 gene mutations in three families (23.5%), whereas no abnormalities were detected in mitochondrial DNA. In conclusion, WFS is a devastating disease for the patients and their families. More information about WFS will lead to a better understanding of this disease and hopefully to improvement in means of its prevention and treatment.

scholarly journals Sociodemographic and Clinical Factors of Acute Ischemic Stroke

2017 ◽  
Vol 33 (1) ◽  
pp. 18-23
Author(s):  
Md Amir Hossain ◽  
MA Hannan ◽  
Kanuj Kumar Barman ◽  
Prodip Kumar Biswas ◽  
Merina Jahan ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Ischemic Stroke ◽  
Hospital Stay ◽  
Heart Diseases ◽  
Current Smoker ◽  
Ischemic Heart ◽  
University Hospital ◽  
Female Ratio ◽  
The Mean

An observational study was carried out to analyze prevalence of risk factors for ischemic stroke in hospitalized patient in a university hospital. Ninety patients were chosen by using purposive sampling technique. The mean age of patients was 59.01±9.87 years varied from 30 to 75 years and male to female ratio was 1.2:1. Highest incidence of stroke was between the 6th and 7th decade. Patients came from both rural 49 (54.4%) and urban 41 (45.6) area. Most of them belonged to the lower-middle group 70 (84.8%). Regarding education 47 (52.2%) patients had primary level education and 8 (8.9%) patients were illiterate. It was observed that among them current smoker were 30 (33.3%) and ex-smoker 17 (18.9%). It was also observed that 52 (57.8%) patients had hypertension and 32 (35.6%) had diabetes mellitus (DM). Ischemic heart disease was present in 14 (15.6%) patients. By Oxford shire classification of stroke, it was observed that PAC is common 51 (56.7%) among all forms. Majority 38 (42.2%) of patients had hospital stay of 11-15 days. The mean hospital stay was found 13.68±6.6 days. This study found that cigarette smoking, hypertension, diabetes mellitus and ischemic heart diseases are the major risk factors prevalent in our community while other risk factors demand further study. Bangladesh Journal of Neuroscience 2017; Vol.  33 (1): 18-23

scholarly journals A Case of Wolfram Syndrome Presenting with Restlessness

2016 ◽  
Vol 34 (1) ◽  
pp. 42-44
Author(s):  
Syed Ghulam Mogni Mowla ◽  
Md Titu Miah ◽  
Ashraf Ur Rahman ◽  
Shamsuddoha Sarker Shonchoi ◽  
Muhammad Nazmul Alam ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Early Detection ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Early Onset ◽  
Genetic Disorder ◽  
Wolfram Syndrome ◽  
Supportive Treatment ◽  
Rare Genetic Disorder

Wolfram Syndrome ( DIDMOAD) is a rare genetic disorder presenting with Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness and some other neurological , reproductive , hormonal, urological and psychic problems. About 200 cases have been reported so far. Here we present a 25 years old Bangladeshi male having early onset Diabetes Mellitus, optic atrophy, deafness and many other features consistent with Wolfram Syndrome. We examined the patient thoroughly and did necessary investigations to confirm our diagnosis. As there is no cure of this disorder, we gave symptomatic and supportive treatment to the patient to make his life easier. Although the outcome is unrewarding , such patients will be kept in regular follow up for early detection of new complications and possible solutions.J Bangladesh Coll Phys Surg 2016; 34(1): 42-44

scholarly journals Lada or Type 2 Diabetes Mellitus - A Challenging Diagnosis in Clinical Approach

2021 ◽  
Vol 26 (3) ◽  
pp. 55-58
Author(s):  
Lucia Mihaela Custură ◽  
Oana Deteşan ◽  
Raluca Maria Tilinca ◽  
Reka Annamaria Schmiedt ◽  
Brigitta Irén Bacso ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Cell Function ◽  
Autoimmune Diabetes ◽  
Early Stage ◽  
Disease Onset ◽  
Screening Methods ◽  
Clinical Approach

Abstract Latent autoimmune diabetes in adults (LADA) is a frequently encountered condition in medical practice. It should be suspected in patients where the type of the diabetes mellitus is not certain. LADA consists of features from both type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM), being a condition which is often unnoticed. Considered as type 1.5 diabetes mellitus, the lack of insulin requirement at disease onset makes it initially to be included in T2DM in terms of therapeutic management. The improvement of the screening methods allows the detection of LADA at an early stage, therefore medical intervention should be effective in preserving beta-cell function and to delay the progression of the disease.

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