GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.

GLYT1 encephalopathy is a form of glycine encephalopathy caused by disturbance of glycine transport. The phenotypic spectrum of the disease has not yet been completely described, as only four unrelated families with the disorder have been reported to date. Common features of affected patients include neonatal hypotonia, respiratory failure, encephalopathy, myoclonic jerks, dysmorphic features, and musculoeskeletal anomalies. All reported affected patients harbor biallelic genetic variants in SLC6A9. SNP array together with Sanger sequencing were performed in a newborn with arthrogryposis and severe neurological impairment. The novel genetic variant c.997delC in SLC6A9 was detected in homozygous state in the patient. At protein level, the predicted change is p.(Arg333Alafs*3), which most probably results in a loss of protein function. The variant cosegregated with the disease in the family. A subsequent pregnancy with ultrasound anomalies was also affected. The proband presented the core phenotypic features of GLYT1 encephalopathy, but also a burst suppression pattern on the electroencephalogram, a clinical feature not previously associated with the disorder. Our results suggest that the appearance of this pattern correlates with higher cerebrospinal fluid glycine levels and cerebrospinal fluid/plasma glycine ratios. A detailed discussion on the possible pathophysiological mechanisms of the disorder is also provided.

[Evaluation of treatment with intra-articular injections in osteoarticular pathology of the shoulder in primary care]. / Evaluación del tratamiento con infiltraciones intraarticulares en la patología osteoarticular del hombro en atención primaria.

MAIN OBJECTIVE: To evaluate the clinical response at 24weeks after injection, measured as pain relief and functional recovery, in painful shoulder syndrome (PSS) in primary care (PC). DESIGN: Longitudinal case series with injection treatment in the scapulohumeral joint, describing functionality and pain evolution before and at 24weeks post injection. LOCATION: Non-urban primary care centres. PARTICIPANTS: Patients with osteoarticular shoulder pathology susceptible to injection, failure of pharmacological treatment and rating on the visual analogue scale (VAS) ≥4 or constant score (CS) ≤70. INTERVENTIONS: Intra-articular injection of corticosteroid and local anaesthetic into the scapulohumeral joint, describing its evolution at 1, 4, 12 and 24weeks post injection. MAIN MEASUREMENTS: Infiltration response according to EVA before and after, CS before and after, number of infiltrations, side effects, temporary inability to work (TIL). RESULTS: Sixty-six patients receiving injection, mean age 51.1years (SD 14.7), 57.6% were women and 63.3% were injection in the right shoulder. A 22.7% required TIL and were discharged with a median of 14days (range 7-56days). They required an injection (80.3%) and the most frequent injection pathology was rotator cuff tendinitis (90.9%). They suffered mild side effects (9.4%). We found a decrease in pain from severe to mild and a functional improvement from poor to good. The variables: being retired (OR: 37.82, P=.001) and having an EVA score prior to injection >8 (OR: 15.67, P=.055, almost significant) were associated with poor response. CONCLUSIONS: Intra-articular administration of corticosteroids in PSS reduces pain and provides functional improvement after the first week after injection, and is maintained in the long term. This allows a quick recovery to work after an injection at two weeks reducing recovery time by 50%, with few side effects.

Admissible surfaces in progressive addition lenses.

Progressive addition lenses (PALs) contain a surface of spatially varying curvature, which supplies variable optical power for different viewing areas over the lens. We derive complete compatibility equations providing the exact magnitude of a cylinder along lines of curvature on any arbitrary PAL smooth surface. These equations reveal that, contrary to current knowledge, the cylinder and its derivative depend not only on the principal curvature and its derivatives along the principal line but also on the geodesic curvature and its derivatives along the line orthogonal to the principal line. We quantify the relevance of the geodesic curvature through numerical computations. We also derive an extended and exact Minkwitz theorem restricted only to be applied along lines of curvature, but excluding umbilical points.

Inter-rater and intra-rater reliability of the extended TUG test in elderly participants.

BACKGROUND: To analyse the reliability, variance and execution time of the Extended Timed Up and Go (Extended TUG) test in three age groups of elderly participants (G1: 55-64 years; G2: 65-74 years; G3: 75-85 years). METHODS: An analytical cross-sectional study of 114 recruited participants (63 women) of average age 70.17 (± 7.3) years was undertaken. Each participant performed the Extended TUG three consecutive times, with a rest break between tests of 120 s. Both the intragroup and intergroup reliability of the measurements in the Extended TUG were analysed. RESULTS: The reliability of the Extended TUG test is excellent for the first and second decades but drops down to good for the third decade. Specifically, intragroup reliability ranged from 0.784 for G3 to 0.977 for G1 (G2 = 0.858). Intergroup reliability, compared with intragroup reliability, was slightly lower, ranging between 0.779 for G3 and 0.972 for G1 (G2 = 0.853). CONCLUSION: The reliability of the Extended TUG test progressively decreases with increasing age, being excellent for the younger age groups and good for the oldest age group.

Narrow band imaging endoscopy improves visualization of vessels of the perforated tympanic membrane.

PURPOSE: Because successful healing of a tympanic membrane perforation (TMP) depends upon the maintenance of blood supply to the injured area, we assessed the usefulness of narrow band imaging (NBI) video endoscopy to evaluate its vascularization. To our knowledge, the use of NBI to assess tympanic membrane (TM) vascular patterns has never been attempted. METHODS: Prospective observational study. NBI and cold white light (CWL) flexible videoendoscopy was used to explore perforated TMs of 100 patients. Main outcome measures were visualization of vessels among abnormal TM findings: monomeric areas (MA) (n = 6), myringosclerosis plaques (MP) (n = 65) and perforation edges (n = 100). They were graded by a vascular otoendoscopic score (VOS) comparing both types of lights (Wilcoxon test). Location and vascularization patterns were analyzed (Fisher's test). RESULTS: NBI was better to observe vascularization of 32% of perforation edges and 75.4% of MP (p < 0.001). NBI displayed higher (better) VOS when evaluating TMP edges (1.05 vs. 0.73) and MP (1.56 vs. 0.81, p < 0.001). The majority of TMP edges showed a ring pattern (66%), followed by irregular (19%), avascular (12%) and radial patterns (3%). The avascular pattern was more frequent in posterior perforations (p = 0.003). The radial pattern was most frequently found in MP, especially at posterior quadrants (p = 0.048). MA presented an irregular pattern in 83.3% of TMs. CONCLUSIONS: NBI videoendoscopy is a promising non-invasive technique, superior to CWL for visualizing vessels among TMP edges and MP, based on further study, could become a supplementary diagnostic tool in the workup of TMP and the decision-making surgical field.

Promoting E2F1-mediated apoptosis in oestrogen receptor-α-negative breast cancer cells.

BACKGROUND: Because oestrogen receptor α (ERα) regulates E2F1 expression to mediate tamoxifen resistance in ERα-positive breast cancer cells, we aimed to define the possible roles of ERα and E2F1 in promoting the resistance of ERα-negative breast cancer cells to 4-hydroxy-tamoxifen (4OHT). METHODS: This study utilised conventional techniques to demonstrate the effects of 4OHT on the expression of ERα and E2F1 and also examined the individual and combined effects of 4OHT with dipyridamole (DIPY) and 3-O-(3,4,5-trimethoxybenzoyl)-(-)-catechin (TMCG) on the oestrogen-negative MDA-MB-231 breast cancer cell line using viability assays, Hoechst staining, MALDI-TOF mass spectroscopy, and confocal microscopy. RESULTS: Despite the ERα-negative status of the MDA-MB-231 cells, we observed that 4OHT efficiently up-regulated ERα in these cells and that this upregulation promoted E2F1-mediated cell growth. Because E2F1 plays a dual role in cell growth/apoptosis, we designed a therapy incorporating TMCG/DIPY to take advantage of the elevated E2F1 expression in these 4OHT-treated cells. 4OHT enhances the toxicity of TMCG/DIPY in these ERα-negative breast cancer cells. CONCLUSIONS: Because TMCG/DIPY treatment modulates the methylation status/stability of E2F1, the results demonstrate that therapies targeting the epigenetic machinery of cancer cells in the presence of overexpressed E2F1 may result in efficient E2F1-mediated cell death.

Effective Coping with Academic Stress Is a Matter of Personality Types: Revisiting the Person-Centred Approach.

Recent literature provides alarming data on the increase in university academic stress. The role of personality in understanding and addressing this problem is well established. However, this evidence could be improved by adopting a person-centred approach (e.g., types), as opposed to the usual variable-centred approach (e.g., traits), and considering the role of gender. Our aim was to explore how personality types and gender relate to coping strategies and perceived coping efficacy for academic stress. A total of 810 university psychology students completed the NEO-FFI Inventory and the Coping Strategies Inventory. Post hoc tests for MANOVA and ANOVA were performed. Types and gender were used as predictors and coping strategies, and perceived coping efficacy as criteria. There was no type-gender interaction. Types combining low neuroticism-high conscientiousness (e.g., entrepreneur) chose the most adaptive coping strategies and showed the highest levels of perceived coping efficacy, while high neuroticism-low conscientiousness types (e.g., insecure) opted for maladaptive coping strategies and presented the lowest perceived coping efficacy. Gender was not associated with perceived coping efficacy but with use (e.g., women prefer emotional expression). The personality typology provided useful information on individual differences in coping with academic stress, which can help guide specific strategies to manage it.

Modification of chicha gum: Antibacterial activity, ex vivo mucoadhesion, antioxidant activity and cellular viability.

The aim of the present work was to modify the exuded gum of Sterculia striata tree by an amination reaction. The viscosity and zero potential of the chicha gum varied as a function of pH. The modification was confirmed by X-ray diffraction (XRD), infrared spectroscopy (FTIR), size exclusion chromatography (SEC), zeta potential, thermogravimetric analysis (TG), and differential scanning calorimetry (DSC). Furthermore, the chemical modification changed the molar mass and surface charge of the chicha gum. In addition, the gums were used in tests for ex vivo mucoadhesion strength, antibacterial activity against the standard strain of Staphylococcus aureus (ATCC 25923), inhibitory activity of α-glucosidase, antioxidant capacity, and viability of Caco-2 cells. Through these tests, it was found that amination caused an increase in the mucoadhesive and inhibitory activity of chicha gum against the bacterium Staphylococcus aureus. In addition, the gums (pure and modified) showed antioxidant capacity and an inhibitory effect against the α-glucosidase enzyme and did not show cytotoxic potential.

Life Cycle Assessment of Rare Earth Elements-Free Permanent Magnet Alternatives: Sintered Ferrite and Mn-Al-C.

Permanent magnets are fundamental constituents in key sectors such as energy and transport, but also robotics, automatization, medicine, etc. High-performance magnets are based on rare earth elements (RE), included in the European list of critical raw materials list. The volatility of their market increased the research over the past decade to develop RE-free magnets to fill the large performance/cost gap existing between ferrites and RE-based magnets. The improvement of hard ferrites and Mn-Al-C permanent magnets plays into this important technological role in the near future. The possible substitution advantage was widely discussed in the literature considering both magnetic properties and economic aspects. To evaluate further sustainability aspects, the present paper gives a life cycle assessment quantifying the environmental gain resulting from the production of RE-free magnets based on traditional hexaferrite and Mn-Al-C. The analysis quantified an advantage of both magnets that overcomes the 95% in all the considered impact categories (such as climate change, ozone depletion, human toxicity) compared to RE-based technologies. The benefit also includes the health and safety of working time aspects, proving possible reduction of worker risks by 3-12 times. The results represent the fundamentals for the development of green magnets that are able to significantly contribute to an effective sustainable transition.

First documented outbreak of arthritis caused by Kingella kingae in a Spanish childcare center.

BACKGROUND: Recently, Kingella kingae (K. kingae) has been described as the most common agent of skeletal system infections in children 6 months-2 years of age. More exceptional is the clinical presentation in clusters of invasive K. kingae infections. We describe the investigation of the first outbreak of 3 cases of arthritis caused by K. kingae documented in Spain detected in a daycare center in Roses, Girona. PATIENTS AND METHODS: In December of 2015 surveillance throat swabs obtained from all attendees from the same class of the index daycare center were assessed to study the prevalence of K. kingae colonization. The sample was composed of 9 toddlers (range: 16-23 months of age). Investigation was performed by culture and K. kingae-specific RT-PCR. Combined amoxicillin-rifampicin prophylaxis was offered to all attendees who were colonized by K. kingae. Following antimicrobial prophylaxis, a new throat swab was taken to confirm bacterial eradication. RESULTS: K. kingae was detected by RT-PCR throat swabs in the 3 index cases and 5 of the 6 daycare attendees. Cultures were negative in all cases. After administration of prophylactic antibiotics, 3 toddlers were still positive for K. kingae-specific RT-PCR. CONCLUSIONS: Clusters of invasive K. kingae infections can occur in daycare facilities and closed communities. Increased awareness and use of sensitive detection methods are needed to identify and adequately investigate outbreaks of K. kingae disease. In our experience, the administration of prophylactic antibiotics could result in partial eradication of colonization. No further cases of disease were detected after prophylaxis.

Impact of antiretroviral therapy on the variability of the HCV NS5B polymerase in HIV/HCV co-infected patients.

OBJECTIVES: Assessment of the impact of antiretroviral drugs on the variability of hepatitis C virus (HCV) NS5B polymerase in HIV/HCV co-infected individuals. METHODS: HCV NS5B polymerase was sequenced from plasma at baseline and at the end of follow-up in HIV/HCV co-infected individuals on a stable antiretroviral regimen seen at two outpatient clinics for at least 2 years. The presence of mutations associated with drug resistance to experimental HCV polymerase inhibitors was examined. RESULTS: Sixty-one HIV/HCV co-infected patients (34% HCV-1a, 25% HCV-1b, 18% HCV-3 and 23% HCV-4) were analysed. The mean time on antiretroviral therapy was 52 months. All patients received HIV nucleoside analogues; 66% along with non-nucleoside analogues. The median HCV RNA was 6.1 log at baseline and 6 log IU/mL at the end of follow-up. The median HIV RNA was 4.4 log at baseline and 1.5 log copies/mL at the end of follow-up. No evidence of selection of NS5B polymerase inhibitor resistance mutations was seen when comparing samples collected at baseline and at the end of follow-up from the same individuals. All NS5B sequences from HCV-1a and HCV-3 showed V499A, associated with resistance to HCV non-nucleoside site-1 inhibitors (NNI-1). In addition, HCV-3 showed I482L, associated with resistance to NNI-2, and HCV-4 showed M414L, I482L and V499A, associated with resistance to NNI-3, 2 and 1, respectively. Two HCV-1b patients showed C316N, related with resistance to NNI-4. CONCLUSIONS: The use of antiretroviral drugs does not increase the rate of primary drug resistance mutations to HCV NS5B polymerase inhibitors in HIV/HCV co-infected patients. However, natural polymorphisms associated with reduced susceptibility to some HCV NNIs are common, particularly in HCV variants other than HCV-1b.

Feeding, Muscle and Packaging Effects on Lipid Oxidation and Color of Avileña Negra-Ibérica Beef.

In order to increase the economic profitability of Avileña-Negra Ibérica beef production, the inclusion of corn silage in total mixed rations was proposed during the fattening period. Twenty-four Avileña-Negra Ibérica breed entire young bulls were used to evaluate the effects of two feeding systems-concentrate (CON) and corn silage (SIL)-and two packaging systems-vacuum (VAC) and modified atmosphere (MAP)-on the lipid oxidation, color evolution and visual color acceptability of meat throughout display with either oxygen-permeable film (FILM) or modified atmosphere (MAP). Two muscles were assessed: Longissimus thoracis (LT) and Semitendinosus (ST). Meat from SIL-fed animals had higher TBA values than CON-fed animals after 7 days in MAP packaging. Lipid oxidation was prevented more effectively by VAC packaging than MAP. Display time highly influenced lipid oxidation, since oxidation rates were lower with VAC than MAP packaging. After 14 days of display in MAP, the LT from CON was lighter than the ST. Meat discoloration after 7 days of display was significantly different between packaging systems. Vacuum-packaged meat kept the same color throughout the storage time. Visual color acceptability for the LT was higher throughout display than for the ST. Samples from the MAP were well accepted by consumers, especially the meat from the SIL group. Alternatively, feeding with corn silage could be used for this type of animals without affecting important aspects of meat quality.

Mitochondrial DNA haplogroups J and T increase the risk of glioma.

The presence of different sets of mitochondrial polymorphisms generated by the accumulation of mutations in different maternal lineages has allowed differentiating mitochondrial haplogroups in human populations. These polymorphisms, in turn, may have effects at the phenotypic level, considering a possible contribution of these germinal mutations to the development of certain diseases such as cancer. The main goal of the present study is to establish a possible association between mitochondrial haplogroups and the risk of suffering glioma. Blood samples were obtained from 32 patients from Catalonia (Spain) diagnosed with different grades of glioma (II, III and IV), according to the World Health Organization. The mitochondrial genome was amplified and sequenced using MiSeq 2000 (Illumina). The HaploGrep tool implemented in mtDNA-Server v.1.0.5 was used for the identification of mitochondrial haplogroups. Data obtained in the present study was further pooled with data from previous European studies including glioma patients from Galicia (Spain) and Italy. Results for the Catalonian samples showed an association between individuals with haplogroup J and the increased risk of suffering glioma, with a significant increase of the frequency of individuals with this haplogroup (25%) regarding the general population (7%). Combining different sets of patients with European origin, it appears that individuals with haplogroups J and T have a significantly higher risk of suffering glioma (p < 0.001; OR: 2.407 and p = 0.007; OR: 1.82, respectively). This is the first study that establishes an association between different mitochondrial haplogroups and the risk of suffering glioma, highlighting the role of mitochondrial variants in this disease.

Colored Surfaces Made of Synthetic Eumelanin.

The polymerization of 3,4-dihydroxy-L-phenylalanine leads to a carboxylic acid-rich synthetic melanin-like material (poly-L-DOPA). Synthetic melanin most resembles natural eumelanin in chemical structure. However, its deposition on surfaces leading to colored surfaces by interference is not as easy to accomplish as in the case of the preparation of colored surfaces by dopamine hydrochloride polymerization. This study deals with the preparation of new colored surfaces made from poly-L-DOPA displaying vivid colors by interference. These surfaces were obtained by depositing thin films of poly-L-DOPA on a reflective silicon nitride substrate. A high ionic strength in the polymerization medium was essential to accomplish the coating. The effect of ionic strength on the resulting surfaces was studied via reflectance, Atomic Force Microscopy (AFM) and Scanning Electron Microscopy (SEM). The refractive index was determined by ellipsometry, and was nearly constant to 1.8 when λ > 650 nm. In the visible spectral region, the imaginary part of the refractive index becomes relevant. The refractive index in the visible wavelength range (400-600 nm) was in the range 1.7-1.80.

Checklist for the evaluation of magnetic resonance imaging in otological pathology. / Lista de verificación para la evaluación de imágenes de resonancia magnética en patología otológica.

Otolaryngology specialists must be familiar with radiological studies that allow the diagnosis of different otological pathologies. Magnetic resonance imaging is a complement to computed tomography, which allows a better evaluation of soft tissues and contributes to the differential diagnosis of space-occupying lesions located in the temporal bone and lateral skull base. It is also the technique of choice for the evaluation of the inner ear and the anatomical structures located in the cerebellopontine angle. In this article we present a checklist for magnetic resonance imaging of the ear with different sections that will allow a systematic review of all structures of interest in otological practice, as well as the preferred sequences for each situation.

First documented outbreak of arthritis caused by Kingella kingae in a Spanish childcare center. / Primer brote documentado de artritis séptica por Kingella kingae en una guardería de España.

BACKGROUND: Recently, Kingella kingae (K. kingae) has been described as the most common agent of skeletal system infections in children 6 months-2 years of age. More exceptional is the clinical presentation in clusters of invasive K. kingae infections. We describe the investigation of the first outbreak of 3cases of arthritis caused by K. kingae documented in Spain detected in a daycare center in Roses, Girona. PATIENTS AND METHODS: In December of 2015 surveillance throat swabs obtained from all attendees from the same class of the index daycare center were assessed to study the prevalence of K. kingae colonization. The sample was composed of 9 toddlers (range: 16-23 months of age). Investigation was performed by culture and K. kingae-specific RT-PCR. Combined amoxicillin-rifampicin prophylaxis was offered to all attendees who were colonized by K. kingae. Following antimicrobial prophylaxis, a new throat swab was taken to confirm bacterial eradication. RESULTS: K. kingae was detected by RT-PCR throat swabs in the 3index cases and 5of the 6daycare attendees. Cultures were negative in all cases. After administration of prophylactic antibiotics, 3toddlers were still positive for K. kingae-specific RT-PCR. CONCLUSIONS: Clusters of invasive K. kingae infections can occur in daycare facilities and closed communities. Increased awareness and use of sensitive detection methods are needed to identify and adequately investigate outbreaks of K. kingae disease. In our experience, the administration of prophylactic antibiotics could result in partial eradication of colonization. No further cases of disease were detected after prophylaxis.

High sensitivity of specific genotypic tools for detection of X4 variants in antiretroviral-experienced patients suitable to be treated with CCR5 antagonists.

OBJECTIVES: Evaluation of the reliability of several V3-based genotypic predictors to infer viral tropism in patients infected with B and non-B strains of HIV-1. METHODS: Several genotypic tropism predictors were evaluated in plasma (RNA) samples from 198 HIV-1-infected patients, taking as gold standard the results of the phenotypic recombinant virus assay Phenoscript((R)). In addition, for 37 B subtype HIV-1 patients the phenotypic results from plasma samples were also compared with tropism predictions based on V3 amplification from paired peripheral blood mononuclear cells (PBMCs). RESULTS: A total of 150 paired genotypic/phenotypic results were obtained from plasma specimens. Concordance values ranged from 63% to 85%, depending on the genotypic algorithm used. The best predictors in terms of sensitivity/specificity to detect X4 variants were WebPSSM(X4/R5) (77%/87%), Geno2pheno(FPR) (=) (5%) (80%/77%) and an algorithm combining the '11/25' and 'Net charge' rules, termed Garrido's rule (80%/79%). The performance of genotypic predictors was better testing B than non-B clades. The overall sensitivity ranged from 28% to 94%, reaching 100% in subtype B antiretroviral-experienced patients using WebPSSM(SI/NSI), Geno2pheno(FPR) (> or =) (5%) and Garrido's rule. Conversely, the sensitivity when testing non-B subtypes was poorer, ranging from 17% to 67%. Interestingly, the correlation between genotypic and phenotypic results was better when testing PBMCs than plasma using all genotypic predictors. CONCLUSIONS: Genotypic tools based on V3 sequences may provide reliable information on HIV-1 tropism when testing clade B viruses, especially in antiretroviral-experienced patients. The sensitivity to detect X4 variants using genotypic tools may improve by testing proviral DNA instead of plasma RNA.

Primary resistance to maraviroc in a large set of R5-V3 viral sequences from HIV-1-infected patients.

OBJECTIVES: Evaluation of the prevalence of V3 mutational patterns associated with maraviroc resistance in R5-using variants. METHODS: V3 sequences were obtained from 809 plasma specimens collected from maraviroc-naive HIV-1-infected individuals on regular follow-up at Hospital Carlos III. Sequences considered to harbour R5-tropic viruses were examined for the presence of primary maraviroc resistance mutational patterns, as found in both in vitro and in vivo studies. RESULTS: A total of 498 R5-V3 sequences were identified. They belonged to recent HIV-1 seroconverters (55.6%), chronically antiretroviral-naive subjects (20.1%) and antiretroviral-experienced patients (24.3%). Most individuals (93.8%) were infected with HIV-1 subtype B. The overall prevalence of maraviroc resistance mutational patterns was low (≤5%). Likewise, specific polymorphisms 4L, 11R or 19S, recently found to be associated with lower clinical response to maraviroc, were found in <2% of tested samples. The rate of maraviroc resistance patterns did not differ significantly according to length of HIV-1 infection, antiretroviral exposure or HIV-1 subtype. CONCLUSIONS: The prevalence of maraviroc resistance mutations is low in maraviroc-naive HIV-1-infected individuals.

Sensitivity of mitochondrial DNA heteroplasmy detection using Next Generation Sequencing.

Although the use of Next Generation Sequencing (NGS) in mitochondrial DNA (mtDNA) studies related to forensic and human genetics has contributed to the report of heteroplasmy at very low levels (lower than 1% and even 0.5%), their detection is not a straightforward process. Our purpose is to establish mitochondrial heteroplasmy detection limits, generating mixed bases at low frequencies by the PCR co-amplification of mtDNA and a nuclear insertion of mitochondrial origin (NUMT). A primer set that presents a perfect annealing with both mitochondrial and nuclear DNA was used to amplify the mitochondrial DNA region located between positions 6739 and 8910 and the corresponding region located inside a NUMT located in chromosome 1 (GRCh38.p12 Primary Assembly 631910-634079) that presents an identity of 98% with the corresponding region of mtDNA in two samples. Independent Nextera XT® (Illumina) NGS libraries were generated for each sample and sequenced in different MiSeq (Illumina) runs. Non-identical and identical positions between individual mtDNA and NUMT sequences were detected, and heteroplasmy detections limits were established: a) with a minor allele frequency <1.5%, false positive and negative can occur, even with a depth higher than 3000X; b) with a minor allele frequency >3%, no presence of false positive and negative were detected with a depth of ~1000X; and c) with a minor allele frequency between 1.5% and 3%, a minimal depth of 3000X was necessary to avoid false positives or negatives detection. Our results demonstrate an alternative strategy to establish a reliable limit of mitochondrial heteroplasmy detection.