Background: Recent studies suggest that coeliac disease (CD) is one of the commonest, life‐long disorders in Italy. The aims of this multicentre work were: (a) to establish the prevalence of CD on a nationwide basis; and (b) to characterize the CD clinical spectrum in Italy. Patients and methods: Fifteen centres screened 17201 students aged 6–15 years (68.6% of the eligible population) by the combined determination of serum IgG‐ and IgA‐antigliadin antibody (AGA) test; 1289 (7.5%) were IgG and/or IgA‐AGA positive and were recalled for the second‐level investigation; 111 of them met the criteria for the intestinal biopsy: IgA‐AGA positivity and/or AEA positivity or IgG‐AGA positivity plus serum IgA deficiency. Results: Intestinal biopsy was performed on 98 of the 111 subjects. CD was diagnosed in 82 subjects (75 biopsy proven, 7 not biopsied but with associated AGA and AEA positivity). Most of the screening‐detected coeliac patients showed low‐grade intensity illness often associated with decreased psychophysical well‐being. There were two AEA negative cases with associated CD and IgA deficiency. The prevalence of undiagnosed CD was 4.77 × 1000 (95% CI 3.79–5.91), 1 in 210 subjects. The overall prevalence of CD, including known CD cases, was 5.44 × 1000 (95% CI 4.57–6.44), 1 in 184 subjects. The ratio of known to undiagnosed CD cases was 1 in 7. Conclusions: These findings confirm that, in Italy, CD is one of the most common chronic disorders showing a wide and heterogeneous clinical spectrum. Most CD cases remain undiagnosed unless actively searched.
Background The COVID-19 pandemic period is having a strong impact on the management of diabetes as well as other chronic diseases as shown by the most severe clinical presentation at onset. The aim of this study was to evaluate the severity of diabetic ketoacidosis (DKA) in youth with newly diagnosed type 1 diabetes in “Santissima Annunziata Hospital” (Chieti, Italy) during COVID-19 pandemic in comparison to the five previous years. Methods A retrospective population-based incidence study was performed. Data were obtained from hospital records of 172 patients with new onset type 1 diabetes divided into two groups according to the diagnosis: Group I, between January 2015 and February 2020; Group II, between March 2020 and April 2021. Data regarding anthropometric, socio-economic and laboratory test were analyzed. DKA (pH < 7.30) and different severity of the disease (severe pH < 7.10; moderate pH < 7.20, mild pH < 7.30) were evaluated. A Spearman correlation between pH values and the main variables of interest was performed. Results DKA frequency was increased by 19 percentage in Group II compared to Group I (55% vs 36%; P = 0.03) with a significant increased risk of severe DKA cases compared to the previous five years (severe DKA 22.5% vs. 8.4%, P = 0.01). pH values were significantly related with HbA1c, blood glucose and c-peptide values in all groups. In addition, in Group II but not in Group I, pH values correlated with Triglycerides and TG/HDL cholesterol ratio. Conclusions During COVID-19 pandemic the risk of more severe clinical presentation of type 1 diabetes at onset is increased. The correlation with lipid profile might suppose an additional effect of lifestyle changes beside the delay in the diagnosis. Modifications of health care system need to be implemented during this peculiar situation in order to avoid such a relevant complication at onset.
The skeletal muscle channelopathies represent a rare group of neuromuscular disorders which are caused by genetic mutations regarding voltage-gated ion channels, which play an important role in muscle membrane depolarization. Muscle channelopathies are broadly divided into 2 main categories: nondystrophic myotonias (NDM) and periodic paralysis (PP). Periodic paralysis (PP) are rare autosomal dominant neuromuscular disorders, characterized clinically by periodic attacks of muscle weakness in concomitance with serum potassium level alterations. It is possible to distinguish normokalemic, hyperkalemic and hypokalemic paralysis. PP is caused by genetic mutations in voltage-gate ion channels like sodium, potassium, and calcium channels, which are determinant for muscle membrane depolarization. The most common genes involved in pathogenesis are CACN1S, SCN4A and KCNJ2, encoding calcium, sodium, and potassium channels (Table 1). Moreover, paralysis related to serum potassium values may also occur in thyreotoxicosis [1], Liddle syndrome, Gitelman syndrome, primary hyperaldosteronism, and acid-base balance disorders. In this case report, we describe a case of transient paralysis and muscular weakness of both upper and lower limbs after a high carbohydrate meal on the day before clinical presentation. Potassium level was normal at the hospital admission, while high levels of creatine phosphokinase, (CPK), Myoglobin, and Aspartate Aminotransferases (AST) was observed.A missense mutation in CACNA1S exon 11 was identified. This case supports the importance of a correct family history, muscular enzyme analysis and genetic study in a normokalemic presentation of periodic paralysis.
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