Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia

We recently described a rare frameshift mutation in the delta-globin gene in a Dutch patient, in association with a new mutation of the Ggamma-globin gene promoter [Ggamma -37 (A-->T)] with a moderately elevated Hb F level of 2.3%. The delta mutation at codon 91 (+T) has been described once before in our laboratory in 1989, in a complex Belgian family with Ggamma (Agammadeltabeta)0-thalassemia (thal) and moderately elevated Hb F levels, without the Ggamma (Agammadeltabeta)0-thal deletion in some individuals. Analysis of the patients from 1989 revealed the presence of the same Ggamma-globin gene mutation and moderately elevated Hb F in all patients, who were also carriers of the delta-globin gene frameshift. Further analysis demonstrated that the two mutations were in linkage with the same haplotype in both the Belgian family and the recently found patient, confirming the association of the elevated Hb F expression with the new Ggamma-globin gene mutation.     

MTHFR C677TT, PAI1 4G-4G, V Leiden Q506, and prothrombin G20210A in hepatocellular carcinoma with and without portal vein thrombosis

We studied thrombophilic genetic factors (TGFs) MTHFR C677TT, PAI1 4G-4G, V Leiden Q506, prothrombin G20210A as risk factors in 94 patients with HCC with and without portal vein thrombosis (PVT), compared with 214 patients with liver cirrhosis (LC) with and without PVT and 94 healthy controls (HC). The OR (95% CI) for MTHFR C677TT with HCC was 3.85 (1.55–7.39) vs. HC. The OR for PAI1 4G-4G in HCC, was 2.87 (1.27–6.55) vs. HC. Also prothrombin G20210A was significantly more frequent among HCC, mainly in patients with PVT, while V Leiden factor was equally distributed among HCC and HC. Differences were more significant in patients with associated PVT. These findings suggest that frequently TGFs are needed for patients to be at risk of HCC and PVT. We conclude that in all patients with chronic liver disease TGF screening should be performed to individuate patients at risk of HCC and PVT.     

Septo-optic dysplasia complex: a heterogeneous malformation syndrome

Septo-optic dysplasia is defined by a variable combination of dysgenesis of midline brain structures including optic nerve hypoplasia and hypothalamic-pituitary dysfunction often associated with a wide variety of brain malformations of cortical development. Multiple congenital anomalies have been reported only sporadically. Despite recent demonstration of the possible pathogenic role of HESX1/Hesx1 gene (a homeobox gene important for development of prosencephalon), the etiology of most cases of septo-optic dysplasia still remains unclear. This report describes eight children (4 males, 4 females; age 2 to 17 years) with septo-optic dysplasia who manifested dysmorphic features (involving not only the midline facial structures) and a spectrum of additional clinical and imaging features including autism, facial hemangioma, and holoprosencephaly. Full mutational screening for the HESX1 gene in seven of eight children was negative. Based on the extreme variability of the clinical and imaging phenotypes hereby observed, on literature review, and on septo-optic dysplasia animal models, this study confirmed that the phenotypic heterogeneity in septo-optic dysplasia is high. We suggest that: (1) dysmorphic features are more frequent than previously thought--they may represent a relevant part of the phenotype; (2) septo-optic dysplasia should be recategorized as an heterogeneous malformation syndrome (septo-optic dysplasia complex) (encompassing multiple brain, endocrine, and systemic anomalies) rather than a single precisely defined entity.     

Smoking habits in a sample of young Italian soldiers

The aim of this cross-sectional study was to determine the attitudes and characteristics of smoking patterns in a sample of 450 young, Italian, military men. Data were collected using a self-administered questionnaire. The prevalence of military smokers was 54.4%; 45.7% of military men were smokers before enrollment, whereas 8.7% initiated smoking after enrollment. In multiple logistic regression analysis, the risk of becoming a smoker was associated with "high" cultural class of the family of origin (odds ratio [OR], 1.99; 95% confidence interval [CII, 1.05-4.23), non-nuclear family types (OR, 2.56; 95% CI, 1.25-5.25), parent (OR, 1.73; 95% CI, 1.04-2.90) and sibling/partner (OR, 2.25; 95% CI, 1.45-3.50) smokers, and >12 months of service (OR, 1.39; 95% CI, 1.07-5.43). None of the other variables relative to military status was significantly associated with smoking. Because the prevalence of military smokers was very high, we think that special programs aimed at decreasing the prevalence, with the long-term goal of smoking cessation, are needed.     

Evidence of greater severity of diabetic foot ulcers during COVID-19 pandemic: A real-life single-centre cohort study

Aims

In the Sars-Cov-2 pandemic era, patients with diabetes mellitus (DM) manifested more severe forms of Sars-Cov-2 with greater mortality than non-diabetic patients. Several studies documented more aggressive forms of diabetic foot ulcers (DFU) during the pandemic period even though the results were not unanimously confirmed. The aim of this study was to evaluate the clinical-demographic differences between a cohort of Sicilian diabetic patients hospitalised for DFU in the pre-pandemic 3 years and a cohort of patients hospitalised in the pandemic 2 years.

Materials and Methods

One hundred and eleven patients from the pre-pandemic period 2017–2019 (Group A) and 86 patients from the pandemic period 2020–2021 (Group B) with DFU, admitted to the division of Endocrinology and Metabolism of the University Hospital of Palermo, were retrospectively evaluated. The clinical assessment of the type, staging and grading of the lesion, and the infective complication from DFU was performed.

Results

No differences in HbA1c values were observed between the two groups. Group B showed a significantly higher prevalence of male subjects (p = 0.010), neuro-ischaemic ulcers (p < 0.001), deep ulcers with involvement of bones (p < 0.001), white blood count levels (p < 0.001), and reactive C protein (p = 0.001) compared to group A.

Conclusions

Our data show that in the COVID-19 pandemic, a greater severity of ulcers requiring a significantly greater number of revascularisations and more expensive therapy, but without an increase in the amputation rate, was observed. These data provide novel information on the impact of the pandemic on diabetic foot ulcer risk and progression.     

Correction to: Management of mixed cryoglobulinemia with rituximab: evidence and consensus-based recommendations from the Italian Study Group of Cryoglobulinemia (GISC)

Clinical Rheumatology -     

Vascular dementia: a cognitive SPET-CBF activation study.

OBJECTIVE: We investigated the pattern of regional cerebral blood flow (rCBF) responses to a cognitive task in vascular patients with and without dementia. METHOD: We studied 8 controls and 18 vascular patients by quantitative rCBF assessed by (133)Xe inhalation method and SPET, both at rest and during a cognitive figure recognition task. Eight were mildly demented and 10 were nondemented vascular patients. According to their task performance, 12 patients were classified as 'good performers' (GPs) and 6 patients as 'poor performers' (PPs). RESULTS: Vascular patients activated a larger number of brain areas than controls. No differences were observed between controls, nondemented and mildly demented patients in the pattern of rCBF activation. GPs presented a lower mean percentage of rCBF increase than either controls or PPs. GPs had lower values than PPs in the left temporal, parietal and occipital regions and in the right posterior cingulate and occipital regions. CONCLUSIONS: These data suggest that vascular patients may functionally compensate for vascular damage by activating more brain areas than controls do and, consequently, by increasing the rate of regional activation.