Peripheral neuropathy in the cherry-red spot?myoclonus syndrome (Sialidosis type I)

Diabetic peripheral neuropathy is a complication of Diabetes Mellitus and is the most common noncommunicable disease. It involves decreases in the sensations and Lower extremity strength leading to reduce dynamic stability in balance and postural control. The purpose of the study is to review the effects of sensory stimulation interventions on Balance and Postural control in Diabetic peripheral neuropathy. A systematic review was conducted following the centers for Goggle scholar, PUBMED and science direct database using the keywords Sensory Stimulation, Balance, Postural control, Diabetic neuropathy. The time frame of the search was from 2006 to 2021. The review resulted in search of 18 articles with duration from 1 day to 26 weeks with a total population of 1,422 diabetes Mellitus type I and type II patients from the year 2006 to 2021. There were strong evidences of effects of sensory stimulation on postural control and Balance with noticeable difference in DPN. Based on our analysis results, most of the study stated that Vibration, Plantar Massages, Kinesiotaping, Rocker shoe, Vibromedical insole, Conventional exercises with proprioception stimulation, Mechanical noise have shown significant difference on balance and postural control. Whereas, offloading devices did not show any remarkable variance. The currently existing studies require a clear recommendation on whether which intervention is more effective. Thus, longer duration studies are required to improve balance and postural control in Diabetic Neuropathy.

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Physiopathology of the diabetic bladder

Archivio Italiano di Urologia e Andrologia ◽

10.4081/aiua.2020.4.314 ◽

2020 ◽

Vol 92 (4) ◽

Author(s):

Tatiana Bolgeo ◽

Antonio Maconi ◽

Marinella Bertolotti ◽

Annalisa Roveta ◽

Marta Betti ◽

...

Keyword(s):

Peripheral Neuropathy ◽

Spina Bifida ◽

Type I Diabetes ◽

Pelvic Surgery ◽

Voiding Cystourethrography ◽

Diabetic Patients ◽

Type I ◽

Sensory Impairment ◽

Diabetic Cystopathy ◽

Urological Symptoms

Objective: To investigate the incidence of diabetic cystopathy in relation to age, gender, type of diabetes, duration of diabetic disease and clinical evidence of peripheral neuropathy and to analyze the physiopathology of the various forms of diabetic cystopathy due to sensory impairment, motor-sensory impairment, motor impairment and hyperreflexia. Materials and methods: In a retrospective multicenter cohort study the medical records of a cohort of 126 diabetic patients with (128 patients) or without (48 patients) urological symptoms were analyzed. Patients were observed at the Città di Alessandria Clinic of Policlinico di Monza and/or at the outpatient clinic of Alessandria Hospital from June 2018 to June 2020. The study excluded patients with central and/or peripheral neuropathy, spina bifida (mylomeningocele or meningocele) or spina bifida occulta; with persistent urinary infections; in anticholinergic treatment for enteric dysfunctions; in medical treatment for cervical-prostatic-urethral obstruction; with vaginal and/or rectal prolapse of II, III, IV degree; with previous spinal or pelvic surgery including radical prostatectomy, Wertheim hysterectomy or colorectal surgery. All the patients were studied with computed tomography (CT) scan of the urinary tract, voiding cystourethrography (VCUG), uroflowmetry, cystomanometry with intrinsic pressure assessment and compliance evaluation, electromyography (EMG) of the anal sphincter, pressure flow analysis, urethral pressure profile and, when advised, pharmacological tests.Results: Out of 126 diabetic patients, 48 did not show any signs or symptoms of urine voiding dysfunction; 30 were men and 18 women with an average age of 62.6 years; 20 had type I diabetes and were in treatment with insulin and 28 type II diabetes treated with oral hypoglycemic medication. The remaining 78 patients (48 men and 30 women), with an average age of 64.8 years, presented urological symptoms; 31 had type I diabetes and 47 had II type diabetes. Conclusions: Diagnosis of the various forms of diabetic cystopathy and early treatment decreases complications and consequently accesses to outpatient facilities and hospital admissions, resulting in an improved quality of life.

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GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice

Педиатрическая фармакология ◽

10.15690/pf.v17i6.2199 ◽

2021 ◽

Vol 17 (6) ◽

pp. 529-535

Author(s):

Natalia V. Zhurkova ◽

Nato D. Vashakmadze ◽

Natella V. Sukhanova ◽

Olga B. Gordeeva ◽

Natalia S. Sergienko ◽

...

Keyword(s):

Vision Loss ◽

Metabolic Diseases ◽

Clinical Signs ◽

Type I ◽

Psychomotor Skills ◽

Gm2 Gangliosidosis ◽

Convulsive Disorder ◽

Tay Sachs Disease ◽

Hexa Gene ◽

Cherry Red Spot

Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by mutations in the HEXA gene encoding the alpha subunit of lysosomal hexosaminidase A. It leads to accumulation of GM2-ganglioside in lysosomes and cell death. The major clinical signs of this disease are regression of motor and psychoverbal skills, progressive macrocephaly, diffuse muscle hypotension, convulsive disorder. Almost all patients with this disease have the “cherry red spot” symptom on the fundus of the eye.Clinical case description. We show clinical description of the patient with disease manifested with the lesion of visual analyzer. The child was sent for geneticist’s consultation due to revealed ophthalmic picture of the “cherry red spot” symptom on the fundus of the eye. Molecular genetic testing has revealed in the patient c.1274_1278 dupTATC (CI 880091) mutation in homozygous state in HEXA gene.Concllusion. Differential diagnosis of this disease should be performed with other diseases from the group of inherited metabolic diseases associated with early regression of psychomotor skills, progressive vision loss, “cherry red spot” symptom on the fundus of the eye and convulsive disorder

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Assessment of ulceration risk in diabetic individuals

Revista Brasileira de Enfermagem ◽

10.1590/0034-7167-2017-0337 ◽

2018 ◽

Vol 71 (suppl 2) ◽

pp. 733-739 ◽

Cited By ~ 2

Author(s):

Luz Marina Alfonso Dutra ◽

Maria Rita Carvalho Garbi Novaes ◽

Manuela Costa Melo ◽

Danyelle Lorrane Carneiro Veloso ◽

Dayane Leticia Faustino ◽

...

Keyword(s):

Risk Factors ◽

Peripheral Neuropathy ◽

Peripheral Arterial Disease ◽

Diabetic Peripheral Neuropathy ◽

Univariate Analysis ◽

Federal District ◽

Arterial Disease ◽

Type I ◽

Continuous Variables ◽

Peripheral Arterial

ABSTRACT Objective: To identify the risk factors for foot ulceration through the tracing of diabetic peripheral neuropathy and peripheral arterial disease in individuals with type I and II diabetes, who were assisted in reference centers of the Federal District, Brazil. Method: a cross-sectional and analytical study, with the assessment of 117 individuals in outpatient clinics of the Federal District. Continuous variables were compared through Mann-Whitney test, and categorized variables, through Chi-square test for univariate analysis and Logistics regression test for multivariate analysis. Results: painful diabetic peripheral neuropathy was present in 37 (75.5%) of the individuals with neuropathy. Deformities and loss of protective plant sensibility were related to neuropathy (p=0.014 and p=0.001, respectively). Of the 40 (34.2%) individuals in the sample who presented peripheral arterial disease, 26 (65%) presented calcification risk. Conclusion: signs of painful peripheral polyneuropathy, peripheral arterial disease, deformities, loss of protective plantar sensibility, and dry skin were identified as risk factors for ulceration.

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Polyunsaturated fatty acid supplementation in peripheral neuropathy

Journal of the American Podiatric Medical Association ◽

10.7547/87507315-83-8-457 ◽

1993 ◽

Vol 83 (8) ◽

pp. 457-461 ◽

Cited By ~ 2

Author(s):

JP Burke ◽

MR Fenton ◽

W Young ◽

L Donatiello

Keyword(s):

Peripheral Neuropathy ◽

Dietary Intervention ◽

Type I ◽

Diabetic State ◽

Glucose Levels ◽

Treatment And Prevention ◽

Kinase C ◽

Elevated Glucose ◽

Weight Analysis

This study is an attempt to assess the role of dietary supplementation in the treatment and prevention of diabetic peripheral neuropathy. The authors developed an animal model system to study this problem. Animals given streptozotocin to induce a type I diabetic state showed elevated glucose levels and decreased body weight. Analysis of the sciatic nerve revealed a decrease in nerve conduction velocity and Na(+)-K(+)-ATPase activity. The activity of protein kinase C, another component of the nerve transmission process, was also affected by the diabetic state. The dietary intervention of polyunsaturated fatty acids seemed to revert some of these changes toward normal.

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