Epidemiological, Clinical, and Evolutionary Profile of Type 1 Diabetics in the Internal Medicine Department of the Abass Ndao Hospital from 2010 to 2021 (about 659 Cases)

Introduction: Type 1 diabetes can have acute complications, sometimes requiring hospitalization. The aim of this study was to describe the epidemiological, clinical and evolutionary aspects of type 1 diabetes in patients at the Abass Ndao National Hospital in Dakar. Patients and Methods: This was a cross-sectional, descriptive and analytical study conducted from January 01, 2010 to December 31, 2021. It focused on hospitalized type 1 diabetic patients. Epidemiological, clinical and evolutionary data were evaluated. Results: Six hundred and fifty-nine (659) patients were enrolled, representing a frequency of 11.5%. The mean age was 29.47 years, giving a sex ratio (m/f) of 0.95. Average hospital stay was 6.1 days. One hundred and forty-four (144) patients (21.8%) had inaugural diabetes. The average consultation time was 14.89 days. Acute metabolic complications were ketoacidosis in 353 patients (56%), and hypoglycemia in 1.2%. Simple hyperglycemia was noted in 113 patients (18.0%). Infection was present in 522 patients (58.3%), of whom 95 (28.2%) had a skin infection.55 patients (16.3%) had a respiratory infection. 12.3% had a dietary imbalance.176 cases (27.7%) had no imbalance.26 patients (3.9%) died, with infectious pathologies accounting for the majority of decompensation factors among the deceased (57.7%). Conclusion: Type 1 diabetes is a cause of morbidity and mortality. It is essential to develop and implement a prevention and management program.

Two novel mutations in theGAN gene causing giant axonal neuropathy

Background Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by the end of the second decade of life. Affected individuals do not survive beyond the third decade of life. Molecular analysis has identified mutations in the gene GAN in patients with this disorder. This gene produces a protein called gigaxonin which is presumably involved in protein degradation via the ubiquitin-proteasome system. However, the underlying molecular mechanism is not clearly understood yet. Methods Here we present the fi rst patient from Mexico with clinical data suggesting GAN. Sequencing of the GAN gene was carried out. Changes in the nucleotide sequence were investigated for their possible impact on protein function and structure using the publicly available prediction tools PolyPhen-2 and PANTHER. Results The patient is a compound heterozygous carrying two novel mutations in the GAN gene. The sequence analy-sis revealed two missense mutations in the Kelch repeats domain. In one allele, a C>T transition was found in exon 9 at the nucleotide position 55393 (g.55393C>T). In the other allele, a transversion G>T in exon 11 at the nucleotide position 67471 (g.67471G>T) was observed. Both of the bioinformatic tools predicted that these amino acid substitutions would have a negative impact on gigaxonin's function. Conclusion This work provides useful information for health professionals and expands the spectrum of disease-causing mutations in the GAN gene and it is the first documented case in Mexican population.