Y-chromosome polymorphisms and ethnic group – a combined STR and SNP approach in a population sample from northern Italy

Aim

To find an association between Y chromosome polymorphisms and some ethnic groups.

Methods

Short tandem repeats (STR) and single-nucleotide polymorphisms (SNP) on the Y chromosome were typed in 311 unrelated men from four different ethnic groups – Italians from northern Italy, Albanians, Africans from the Maghreb region, and Indo-Pakistanis, using the AmpFlSTR^® Yfiler PCR Amplification Kit and the SNaPshot Multiplex Kit.

Results

STRs analysis found 299 different haplotypes and SNPs analysis 11 different haplogroups. Haplotypes and haplogroups were analyzed and compared between different ethnic groups. Significant differences were found among all the population groups, except between Italians and Indo-Pakistanis and between Albanians and Indo-Pakistanis.

Conclusions

Typing both STRs and SNPs on the Y chromosome could become useful in determining ethnic origin of a potential suspect.Determining the ethnic origin of a suspect through DNA analysis of biological stains left at the crime scene is an important part of criminal investigations. To discriminate between different ethnic groups, short tandem repeat (STR) autosomal marker analysis (1-6) can be complemented by single-nucleotide polymorphism (SNP) assays, which have have been demonstrated to be more useful for this purpose (7,8). The introduction of new markers, mostly from the Y chromosome, offers a better power of discrimination to define even sub-populations of different ethnic groups (9-11). This study aims to compare a sample of Italian men from Brescia (northern Italy) with a sample of men from each of three main ethnic groups living in Brescia county (Albanians, North Africans, Indo-Pakistanis), through STRs and SNPs Y chromosome typing, in order to find the data useful in defining the ethnic origin.     

Open-source open-access reaction time test (OORTT): an easy tool to assess reaction times

Neurological Sciences - The speed of information processing is one of the most reliable indices of cognitive efficiency. The most common way to evaluate this ability is to assess reaction times...     

Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review

Mutations in AarF domain‐containing kinase 3 (ADCK3) are responsible for the most frequent form of hereditary coenzyme Q10 (CoQ10) deficiency (Q10 deficiency‐4), which is mainly associated with autosomal recessive cerebellar ataxia type 2 (ARCA2). Clinical presentation is characterized by a variable degree of cerebellar atrophy and a broad spectrum of associated symptoms, including muscular involvement, movement disorders, neurosensory loss, cognitive impairment, psychiatric symptoms and epilepsy. In this report, we describe, for the first time, a case of photoparoxysmal response in a female patient with a mutation in ADCK3. Disease onset occurred in early childhood with gait ataxia, and mild‐to‐moderate degeneration. Seizures appeared at eight years and six months, occurring only during sleep. Photoparoxysmal response was observed at 14 years, almost concomitant with the genetic diagnosis (c.901C>T;c.589‐3C>G) and the start of CoQ10 oral supplementation. A year later, disease progression slowed down, and photosensitivity was attenuated. A review of the literature is provided focusing on epileptic features of ADCK3‐related disease as well as the physiopathology of photoparoxysmal response and supposed cerebellar involvement in photosensitivity. Moreover, the potential role of CoQ10 oral supplementation is discussed. Prospective studies on larger populations are needed to further understand these data.     

Categorias de Aptidão Física Baseadas no VO2max em População Brasileira com Suposto Alto Nível Socioeconômico e sem Cardiopatia Estrutural

Background The most widely used data for cardiorespiratory fitness (CRF) referrals are from the Cooper Clinic, which uses calculated maximal oxygen uptake (VO₂max) values.Objective To develop CRF values from cardiopulmonary exercise testing (CPX) in a Brazilian population with high socioeconomic level and free of structural heart disease. VO₂max testing results were compared with the Cooper Clinic and FRIEND Registry data.Methods CPX data from consecutive individuals between January 1,2000, and May 31,2016 were used in this study. Inclusion criteria were: VO₂max by a pre-specified definition. We built a CRF chart according to VO₂max percentiles: very poor (≤20%), poor (20-40%), fair (40-60%), good (60-80%), excellent (80-90%), and superior (≥90%). Kappa correlation was used to analyze our data in comparison with that of the other two databases. Statistical tests with p<0.005 were considered significant.Results Final cohort included 18,186 tests: 12,552 men, 5,634 women (7–84 years). The most recurrent response was “good” (20.2%). There was a mean difference in weight, height, body mass index (BMI), and age in the CRF chart. An inverse correlation existed between VO₂max and age, weight, and BMI. Using a linear regression and these variables, a predictive equation was developed for VO₂max. Our findings differed from that of the other databases.Conclusion We developed a classification for CRF and found higher values in all classification ranges of functional capacity in contrast to the Cooper Clinic and FRIEND Registry. Our findings offer a more accurate interpretation of ACR in this large Brazilian population sample when compared to previous standards based on the estimated VO2max. (Arq Bras Cardiol. 2020; 115(3):468-477)     

Pacing with capture verification in candidates for resynchronisation therapy: a feasibility study.

BACKGROUND: Devices for cardiac resynchronisation therapy (CRT) deliver energy into 3 output channels. Such a burden can significantly reduce device longevity. Autocapture has been shown to improve pacemaker longevity and safety of right ventricular pacing in clinical studies. The aim of this study was to investigate the application of Autocapture during biventricular pacing (BIV) to decrease the energy cost of CRT. METHODS: During implantation of BIV devices, an acute study was performed to test the hypothesis that the evoked response (ER) elicited by each delivered stimulus is correctly detected and measured either on the right ventricular (RV) channel during BIV pacing with the left ventricular (LV) channel pacing first, or in the LV channel with the RV channel pacing first. A reliable measurement of ER is the critical requirement for the correct performance of Autocapture. RESULTS: ER amplitude in the right ventricle during BIV pacing was not significantly decreased compared with RV pacing in the VVI mode (16.36+/-5.27 mV vs 17.09+/-6.12 mV). ER amplitude in the left ventricle during BIV pacing was not significantly decreased compared with LV pacing in the VVI mode (12.4+/-8.95 mV vs 12.25+/-8.97 mV). Three patients in atrial fibrillation had a DDDR pacemaker with the LV lead connected to the atrial port, and received BIV pacing with Autocapture turned on in the RV channel. Autocapture performance in the long term, as assessed by the trend of RV threshold over 20+/-8 months, showed that LV depolarisation was never sensed as an ER on the RV channel. CONCLUSIONS: Our observations support the feasibility and safety of capture verification during BIV pacing on the ventricular channel paced secondly, which could increase the longevity of CRT devices, and decrease the costs of this new therapy for heart failure patients.     

Panencephalopathic Creutzfeldt‐Jakob Disease with Distinct Pattern of Prion Protein Deposition in a Patient with D178N Mutation and Homozygosity for Valine at Codon 129 of the Prion Protein Gene

Prion diseases include sporadic, acquired and genetic forms linked to mutations of the prion protein (PrP) gene (PRNP). In subjects carrying the D178N PRNP mutation, distinct phenotypes can be observed, depending on the methionine/valine codon 129 polymorphism. We present here a 53‐year‐old woman with D178N mutation in the PRNP gene and homozygosity for valine at codon 129. The disease started at age 47 with memory deficits, progressive cognitive impairment and ataxia. The clinical picture slowly worsened to a state of akinetic mutism in about 2 years and the disease course was 6 years. The neuropathologic examination demonstrated severe diffuse cerebral atrophy with neuronal loss, spongiosis and marked myelin loss and tissue rarefaction in the hemispheric white matter, configuring panencephalopathic Creutzfeldt‐Jakob disease. PrP deposition was present in the cerebral cortex, basal ganglia and cerebellum with diffuse synaptic‐type pattern of immunoreactivity and clusters of countless, small PrP deposits, particularly evident in the lower cortical layers, in the striatum and in the molecular layer of the cerebellum. Western blot analysis showed the presence of type 1 PrP^Sc (Parchi classification). These findings underline the clear‐cut distinction between the neuropathological features of Creutzfeldt‐Jakob disease associated with D178N PRNP mutation and those of fatal familial insomnia.