Search

The genetic mechanisms underlying the expansion in size and complexity of the human brain remains poorly understood. L1 retrotransposons are a source of divergent genetic information in hominoid genomes, but their importance in physiological functions and their contribution to human brain evolution is largely unknown. Using multi-omic profiling we here demonstrate that L1-promoters are dynamically active in the developing and adult human brain. L1s generate hundreds of developmentally regulated and cell-type specific transcripts, many which are co-opted as chimeric transcripts or regulatory RNAs. One L1-derived lncRNA, LINC01876, is a human-specific transcript expressed exclusively during brain development. CRISPRi-silencing of LINC01876 results in reduced size of cerebral organoids and premature differentiation of neural progenitors, implicating L1s in human-specific developmental processes. In summary, our results demonstrate that L1-derived transcripts provide a previously undescribed layer of primate- and human-specific transcriptome complexity that contributes to the functional diversification of the human brain.

The human genome contains numerous duplicated regions, such as parent-pseudogene pairs, causing sequencing reads to align equally well to either gene. The extent to which this ambiguity complicates transcriptomic analyses is currently unknown. This is concerning as many parent genes have been linked to disease, includingGBA1,causally linked to both Parkinson’s and Gaucher disease. We find that most of the short sequencing reads that map toGBA1, also map to its pseudogene,GBAP1. Using long-read RNA-sequencing in human brain, where all reads mapped uniquely, we demonstrate significant differences in expression compared to short-read data. We identify novel transcripts from bothGBA1andGBAP1, including protein-coding transcripts that are translatedin vitroand detected in proteomic data, but that lack GCase activity. By combining long-read with single-nuclear RNA-sequencing to analyse brain-relevant cell types we demonstrate that transcript expression varies by brain region with cell-type-selectivity. Taken together, these results suggest a non-lysosomal function for both GBA1 and GBAP1 in brain. Finally, we demonstrate that inaccuracies in annotation are widespread among parent genes, with implications for many human diseases.

Huntington's disease is a neurodegenerative disorder caused by CAG expansions in the huntingtin (HTT) gene. Modelling Huntington's disease is challenging, as rodent and cellular models poorly recapitulate the disease as seen in ageing humans. To address this, we generated induced neurons through direct reprogramming of human skin fibroblasts, which retain age-dependent epigenetic characteristics. Huntington's disease induced neurons (HD-iNs) displayed profound deficits in autophagy, characterized by reduced transport of late autophagic structures from the neurites to the soma. These neurite-specific alterations in autophagy resulted in shorter, thinner and fewer neurites specifically in HD-iNs. CRISPRi-mediated silencing of HTT did not rescue this phenotype but rather resulted in additional autophagy alterations in control induced neurons, highlighting the importance of wild-type HTT in normal neuronal autophagy. In summary, our work identifies a distinct subcellular autophagy impairment in adult patient derived Huntington's disease neurons and provides a new rationale for future development of autophagy activation therapies.

Traumatic brain injury (TBI) is a leading cause of chronic brain impairment and results in a robust, but poorly understood, neuroinflammatory response that contributes to the long-term pathology. We used snRNA-seq to study transcriptomic changes in different cell populations in human brain tissue obtained acutely after severe, life-threatening TBI. This revealed a unique transcriptional response in oligodendrocyte precursors and mature oligodendrocytes, including the activation of a robust innate immune response, indicating an important role for oligodendroglia in the initiation of neuroinflammation. The activation of an innate immune response correlated with transcriptional upregulation of endogenous retroviruses in oligodendroglia. This observation was causally linkedin vitrousing human glial progenitors, implicating these ancient viral sequences in human neuroinflammation. In summary, this work provides a unique insight into the initiating events of the neuroinflammatory response in TBI, which has new therapeutic implications.

Highlights • Sex cord tumors with annular tubules (SCTAT) are very rare neoplasms comprising less than 1% of sex cord ovarian tumors. • They usually occur in women of reproductive age and tend to be associated with Peutz Jeghers Syndrome (PJS), be bilateral. • We report the second case of a 71-year old woman with non-syndromic bilateral SCTAT., Introduction Sex cord tumors with annular tubules (SCTAT) are very rare neoplasms comprising less than 1% of sex cord ovarian tumors. They usually occur in women of reproductive age and tend to be associated with Peutz Jeghers Syndrome (PJS), be bilateral, multifocal, and small. When diagnosed in older patients they are often described as sporadic, unilateral, predominantly cystic and bigger. Case presentation A bilateral hysterosalpingo-oophorectomy was performed in a seventy-one year-old-woman with postmenopausal bleeding showing no features of PJS. A bilateral SCTAT was diagnosed, associated with a focus of Leydig cell hyperplasia, an endometrial polyp and endomethroid intraepithelial neoplasia. Discussion SCTAT is a very rare histological variant in postmenopausal women. The case we present is special, different to what has been reported in the literature regarding these tumors. Conclusion It is important to be aware that SCTATs can also be present in older women, they can be bilateral despite not being related to PJS syndrome and must be considered as a differential diagnosis in ovarian tumors.

The etiology of most neurological disorders is poorly understood and current treatments are largely ineffective. New ideas and concepts are therefore vitally important for future research in this area. This review explores the concept that dysregulation of transposable elements (TEs) contributes to the appearance and pathology of neurodevelopmental and neurodegenerative disorders. Despite TEs making up at least half of the human genome, they are vastly understudied in relation to brain disorders. However, recent advances in sequencing technologies and gene editing approaches are now starting to unravel the pathological role of TEs. Aberrant activation of TEs has been found in many neurological disorders; the resulting pathogenic effects, which include alterations of gene expression, neuroinflammation, and direct neurotoxicity, are starting to be resolved. An increased understanding of the relationship between TEs and pathological processes in the brain improves the potential for novel diagnostics and interventions for brain disorders.

The synthesis and characterization of Cu2ZnSnS4 (CZTS) thin films prepared on glass/CdS substrates by the successive ionic layer adsorption and reaction (SILAR) method are presented. The effect of copper concentration and atmosphere annealing on the properties of CZTS thin films were studied by means X-ray diffraction (XRD), Raman spectroscopy, Scanning Electron Microscopy (SEM), X-ray photoelectron spectroscopy (XPS), optical spectroscopy and current-voltage curves. The XPS depth profiling data revealed that a minima copper concentration in cationic solution is required to start the adsorption of zinc and tin ions at the CdS surface. The use of 0.001–0.002 M copper concentration allows the adsorption of zinc and tin ions in a suitable quantity inducing the formation of stoichiometric and polycrystalline CZTS thin films. Furthermore, it was found that above of this copper concentration, the segregation of Cu2S phase occurs, even when it is ten times smaller than Zn and Sn concentrations. Otherwise, the sulfurization process doesn't imply a significant change on the structural and chemical properties, as if it does in the optical and electrical properties. This suggests that the excess of Na2S used in the anionic solution is enough to compensate the loss of sulfur during the thermal annealing. The optical band gap energy and the electrical conductivity of these films were evaluated in the range of 1.41–1.53 eV and 10−1 Ω cm−1, respectively. All results suggested that this material is suitable for being applied as an absorber layer in photovoltaic solar cells.

Cadmium sulfide is the main choice among n-type semiconductors for several solar cell technologies due to its excellent optical, structural and electronic characteristics. Even when it has been widely studied, there are still unsolved aspects related with the understanding of nucleation and growth mechanisms. For that, the initial growth stages of CdS deposited by chemical bath deposition (CBD) were carefully studied by in-situ X-ray photoelectron spectroscopy (XPS) by connecting a glove box with the CBD setup to the XPS introduction chamber. The CdS thin films were synthesized by CBD method onto glass substrates using CdCl2 as the cadmium precursor, sodium citrate as the complexing agent and thiourea as the sulfur source. XPS analysis revealed the presence of Cd(OH)2 and Cd-Citrate species, which facilitates nucleation to later promote the formation of CdS. During the deposition time (0–10 min) the pH changes from 12.1 to 10.8. Considering this, the following combination of mechanisms during the deposition: the hydroxide (above pH 11) and complex-decomposition (below pH 11) was proposed by using a distribution species diagram. The resulting films are close to the ideal stoichiometric CdS after 10 min of deposition. Furthermore, the film thicknesses determined by XPS ultra-thin film analysis, were about 2.37 and 13.7 nm, for 6 and 10 min, respectively, in good agreement with ellipsometry measurements.

Heavy metals in water are a serious environmental problem due to their accumulation and toxicity, there are several processes we can use to address this issue, but adsorption is the most popular due to its simplicity and efficiency. Polysaccharides such as cellulose have received attention as adsorbents for heavy metals, and cotton–chitosan composites (CCs) were developed here with nontoxic reagents such as carboxylic acids as crosslinkers and NaH2PO4 as a catalyst to achieve chitosan covalent crosslinkage into oxidized cotton textiles with H2O2. The composites were characterized by fourier-transform infrared spectroscopy (FTIR), elemental analysis (EA), X-ray photoelectron spectroscopy (XPS), atomic-force and scanning electron microscopy (AFM and SEM), and tensile strength, the adsorption of lead ions (Pb) was evaluated with cotton–chitosan composites and quantified by microwave plasma atomic emission spectroscopy (MP-AES). The composites showed a maximum incorporation of chitosan of 27.62 mg per gram of cotton textile. A tensile strength analysis of the composite showed a Young’s modulus approximately 1 MPa higher than that of cotton textile. The adsorption of lead ions with composites in an aqueous solution at pH 5 and 25 °C was circa 74% after 6 h of contact, as determined by MP-AES. This work is an approach to demonstrate the potential of these polysaccharides, modified by “green” procedures to remove pollutants from water.

The presence of penile metastatic lesions proceeding from primary rectal tumors is a rare entity usually associated with a poor prognosis. Clinical presentation and localization may vary. There exists no consensus gold standard treatment for penile metastatic lesions, and there is continuous debate on whether lesions should undergo surgical, chemotherapeutic or palliative management.

Huntington’s disease (HD) is a neurodegenerative disorder caused by CAG expansions in the huntingtin (HTT) gene. Modelling HD has remained challenging, as rodent and cellular models poorly recapitulate the disease. To address this, we generated induced neurons (iNs) through direct reprogramming of human skin fibroblasts, which retain age-dependent epigenetic characteristics. HD-iNs displayed profound deficits in autophagy, characterised by reduced transport of late autophagic structures from the neurites to the soma. The neurite-specific alterations in autophagy resulted in shorter, thinner and fewer neurites presented by HD-iNs. CRISPRi-mediated silencing of HTT did not rescue this phenotype but rather resulted in additional autophagy alterations in ctrl-iNs, highlighting the importance of wild type HTT in neuronal autophagy. In summary, our work identifies a distinct subcellular autophagy impairment in aged patient derived HD-neurons and provides a new rational for future development of autophagy activation therapies.

Endogenous retroviruses (ERVs) make up a large fraction of mammalian genomes and are thought to contribute to human disease, including brain disorders. In the brain, aberrant activation of ERVs is a potential trigger for an inflammatory response, but mechanistic insight into this phenomenon remains lacking. Using CRISPR/Cas9-based gene disruption of the epigenetic co-repressor protein Trim28, we found a dynamic H3K9me3-dependent regulation of ERVs in proliferating neural progenitor cells (NPCs), but not in adult neurons. In vivo deletion of Trim28 in cortical NPCs during mouse brain development resulted in viable offspring expressing high levels of ERVs in excitatory neurons in the adult brain. Neuronal ERV expression was linked to activated microglia and the presence of ERV-derived proteins in aggregate-like structures. This study demonstrates that brain development is a critical period for the silencing of ERVs and provides causal in vivo evidence demonstrating that transcriptional activation of ERV in neurons results in an inflammatory response.

Collision tumors (CT) refer to the phenomenon where two or more apparently different and unrelated tumors occur within the same location in an organ, forming the same lesion. We present the first case of renal CT with a mixed component of clear cell carcinoma and collecting duct carcinoma (CDC) with rhabdoid and sarcomatoid characteristics treated with the combination of cabozantinib and nivolumab. A 47-year-old man arrived at our clinic referring persistent dry cough, accompanied by a weight loss of 12 kg in the previous two months. Imaging studies revealed bilateral pulmonary lesions of metastatic appearance associated with a large tumor in the left kidney. After radical nephrectomy the histopathological report revealed a renal cell carcinoma (collecting duct carcinoma 85% and clear cell carcinoma 15%). The patient was included in a treatment protocol based on cabozantinib 40 mg QD plus nivolumab 240 mg every 15 days, obtaining a partial response after two months. This response was maintained for 12 months after initiation of systemic treatment. This is the first documented case of renal CT with a CDC component that obtained a partial response to combined treatment with immunotherapy and target therapy as first-line treatment; obtaining the longest overall survival reported in the setting of a metastatic renal CT with this histological combination. We need to expand the knowledge regarding the treatment of metastatic CDC, either as a single entity or as a component of a renal CT, in order to offer the best possible therapeutic outcome.

The human forebrain has expanded in size and complexity compared to that of chimpanzee despite limited changes in protein-coding genes, suggesting that gene regulation is an important driver of brain evolution. Here we identify a KRAB-ZFP transcription factor, ZNF558, that is expressed in human but not chimpanzee forebrain neural progenitor cells. ZNF558 evolved as a suppressor of LINE-1 transposons but has been co-opted to regulate the mitophagy gene SPATA18, supporting a link between mitochondrial homeostasis and cortical expansion. The unusual on-off switch for ZNF558 expression resides in a downstream variable number tandem repeat (VNTR) that is contracted in humans relative to chimpanzee. Our data reveal the brain-specific co-option of a transposon-controlling KRAB-ZFP and how a human-specific regulatory network is established by a cis-acting structural genome variation. This represents a previously undescribed genetic mechanism in the evolution of the human brain.

Endogenous retroviruses (ERVs) make up a large fraction of mammalian genomes and are thought to contribute to human disease, including brain disorders. In the brain, aberrant activation of ERVs is a potential trigger for neuroinflammation, but mechanistic insight into this phenomenon remains lacking. Using CRISPR/Cas9-based gene disruption of the epigenetic co-repressor protein Trim28, we found a dynamic H3K9me3-dependent regulation of ERVs in proliferating neural progenitor cells (NPCs), but not in adult neurons.In vivodeletion ofTrim28in cortical NPCs during mouse brain development resulted in viable offspring expressing high levels of ERV expression in excitatory neurons in the adult brain. Neuronal ERV expression was linked to inflammation, including activated microglia, and aggregates of ERV-derived proteins. This study demonstrates that brain development is a critical period for the silencing of ERVs and provides causalin vivoevidence demonstrating that transcriptional activation of ERV in neurons results in neuroinflammation.

Coccidioidomycosis is an endemic disease of arid regions in the Western hemisphere. Its clinical presentation varies from asymptomatic nodules on chest x-rays to disseminated disease. We present the case of a 48-year-old man with a hard and heterogeneous tumor in the posterior aspect of the right testis. Color flow doppler testicular ultrasonography was performed and two nodular masses in the tail of the right epididymis were identified. An epididymectomy was performed and histopathological examination revealed coccidioidomycosis. After diagnosis, the patient was successfully treated with fluconazol.

The presence of the genetic variants of the steroid 5-alpha reductase 2 enzyme, which is encoded by the SRD5A2 gene, has been associated with an increased risk of developing prostate cancer among certain ethnic groups. However, these molecular studies have not been conducted on the Mexican population. The analysis of the genetic variants, rs9282858 and rs523349, was performed in 101 males with prostate cancer and 100 healthy controls classified as males without prostate abnormalities (n=60) and males with benign prostatic hyperplasia (n=40), to identify a probable association with this cancer type in the Northeast Mexican population. An association was identified between prostate cancer and biomass exposure [P=0.012; odds ratio (OR), 2.89; confidence interval (CI)=1.21-6.88] and tobacco use (P=0.028; OR=1.88; CI=1.07-3.31), while no association was observed between cancer development and the rs9282858 variant, or between a protective effect and the rs523349 variant. Notably, an association was identified between rs523349 and biomass exposure (P=0.013, OR=3.17; CI=1.23-8.17 for the G risk allele, and OR=0.32, CI=0.12-0.81 for the C protective allele) using the dominant genetic model. To the best of our knowledge, the present study was the first of its type to investigate the Mexican population with prostate cancer.

Tumors of the paratesticular region are generally tumors of slow growth, with little symptomatology and, in most cases, benign in nature; in this area, a borderline serous tumor may arise hypothetically from Müllerian metaplasia of the tunica vaginalis, which is histologically identical to its ovarian counterpart. We present a 10-year-old male, with right gynecomastia and ipsilateral hydrocele, showing an enlarged right testicle with a volume of 12 ml and a left testicle with a volume of 10 ml. A right orchiectomy was performed, which presented a poorly defined tan tumor of 1.8 cm that occupied the vaginal and epididymal tunica, and infiltrates the testicular parenchyma. Histological sections revealed a cystic neoplasm, with hierarchical papillary projections, covered by one or several epithelial columnar and hobnail cells with moderate atypia and scant mitosis. Immunohistochemical reactions were performed, resulting positive for PAX-8, epithelial membrane antigen, and CK7, confirming the diagnosis of borderline serous tumor. Since the first reported case in 1986, few have been reported, the majority of these in adults with only three cases in children. In the few cases reported, the prognosis is usually favorable after surgical resection, with disease-free follow-up for up to 18 years.

Bilateral testicular germ cell tumors (BTGCT) occur in 1 to 4% of patients with testicular cancer and of these, 10-15% are synchronous. Overall, BTGCT represents less than 0.5% of all new cases of testicular cancer. There are few reports in the literature of synchronous BTGCT with different histology. We present the case of a 30-year-old man who presented to our genitourinary tumor unit with a bilateral increase of testicular volume. After initial assessment, a testicular ultrasound showed the presence of solid tumors in both testes. Staging studies were negative for metastatic disease. The patient was referred to the fertility clinic for sperm banking and later underwent a bilateral radical orchiectomy. The histopathology evaluation revealed a 5.5 cm right-sided mixed germ cell tumor and a 1.5 cm left-sided testicular seminoma. Because patient's poor compliance for surveillance was identified as a risk factor for relapse and poor outcome, adjuvant chemotherapy was favored. The patient underwent one cycle of bleomycin, etoposide and cisplatin (BEP). After four years of follow up, the patient shows no evidence of relapse, either clinically or radiologically. In men unlikely to carry out successful surveillance; active treatment is the preferred option for preventing disease recurrence, even in patients with no risk factors. The physician must consider all available therapeutic measures in this scenario to achieve the best possible therapeutic result.

Tumors of the paratesticular region are generally tumors of slow growth, with little symptomatology and, in most cases, benign in nature; in this area, a borderline serous tumor may arise hypothetically from Müllerian metaplasia of the tunica vaginalis, which is histologically identical to its ovarian counterpart. We present a 10-year-old male, with right gynecomastia and ipsilateral hydrocele, showing an enlarged right testicle with a volume of 12 ml and a left testicle with a volume of 10 ml. A right orchiectomy was performed, which presented a poorly defined tan tumor of 1.8 cm that occupied the vaginal and epididymal tunica, and infiltrates the testicular parenchyma. Histological sections revealed a cystic neoplasm, with hierarchical papillary projections, covered by one or several epithelial columnar and hobnail cells with moderate atypia and scant mitosis. Immunohistochemical reactions were performed, resulting positive for PAX-8, epithelial membrane antigen, and CK7, confirming the diagnosis of borderline serous tumor. Since the first reported case in 1986, few have been reported, the majority of these in adults with only three cases in children. In the few cases reported, the prognosis is usually favorable after surgical resection, with disease-free follow-up for up to 18 years.

The human forebrain has expanded in size and complexity compared to chimpanzees despite limited changes in protein-coding genes, suggesting that gene expression regulation is an important driver of brain evolution. Here, we identify a KRAB-ZFP transcription factor, ZNF558, that is expressed in human but not chimpanzee forebrain neural progenitor cells. ZNF558 evolved as a suppressor of LINE-1 transposons but has been co-opted to regulate a single target, the mitophagy gene SPATA18. ZNF558 plays a role in mitochondrial homeostasis, and loss-of-function experiments in cerebral organoids suggests that ZNF558 influences developmental timing during early human brain development. Expression of ZNF558 is controlled by the size of a variable number tandem repeat that is longer in chimpanzees compared to humans, and variable in the human population. Thus, this work provides mechanistic insight into how a cis-acting structural variation establishes a regulatory network that affects human brain evolution.

Zinc oxide films with a high transmittance in the visible range (over 80%) were obtained by successive ionic layer adsorption and reaction method without thermal treatment, using only a low-temperature (125 °C) ethylene glycol bath to complete the reaction. It was shown that the film deposition rate, as well as its structural and optical properties can be adjusted by variation of NH4OH concentration in the precursor solution. All obtained films were of a uniform surface morphology with fine grains about 43–48 nm in size and larger flower-like surface formations. The complex multi-technique material characterization has shown that ZnO deposited from 1:20 ZnSO4:NH4OH precursor solution featured low content of residual phases, faster growing rate, higher c-axis orientation, and the highest transparency. At the same time, optical band gap of the samples (Eg ≈ 3.4 eV) showed no marked dependence on NH4OH concentration.

Metabolic syndrome (MS) has been associated with testicular damage. Nonalcoholic fatty liver disease (NAFLD) is a multisystemic disease that affects different organs, but its effect on the testes is unknown. A study analyzing germ cell involvement on BALB/c mice was carried out. A parallel comparative study was conducted that investigated alterations in the germinal epithelium of male humans that died from an unrelated acute event. The complete medical histories and histologic samples of the thoracic aorta, liver tissue, and testicular tissue from the deceased subjects were collected. The degree of germinal epithelial loss (DGEL) was evaluated and the clinical and histologic data were compared between individuals with and without NAFLD. The only metabolic or morphologic variable that caused a significant difference in the DGEL, in both the animal model and humans, was the presence of liver steatosis. The percentage of steatosis was also correlated with the percentage of the DGEL. In humans, steatosis (greater than 20%) increased the risk 12-fold for presenting with a severe DGEL (OR: 12.5; 95% CI [1.2, 128.9]; p = .03). There was no association with age above 50 years or MS components. Steatosis grade was also correlated with atherosclerosis grade. NAFLD was a strongly associated factor implicated in severe DGEL, as well as the testis was identified as a probable target organ for damage caused by the disease. This finding could result in the search for new approach strategies in the management of men with fertility problems. Further studies are required to confirm these results.

Sepik virus, a pathogen transmitted by arthropods to humans is in the flavivirus family. For this reason, the genomic study of the Sepik virus is relevant in vector-borne diseases field. Genomic mining of the virus and comparison of its coding regions were done to identify sequences that represent greater and lesser conservation than other phylogenetically correlated viruses and to identify regions of greater selection pressure within its genome. The Sepik genome was mapped and analyzed by alignment processes. Selection pressure was estimated using the Pamilio-Banachi-Li method. The genome of the Sepik virus is a 17-motif polyprotein. Within these motifs, the codifying regions of greatest conservation were immunoglobulin-like domain III (82.77%) and the DEAD domain (68.42%), while some domains indicated selection pressure. The selection pressure predicted for certain domains suggested evolutionary pressure on the virus that represented medical impact on virulence and biological risk of the virus.

Cu2SnS3 (CTS) thin films were grown by spray pyrolysis using two synthetic routes: stoichiometric and substoichiometric in an aprotic media. The use of dimethyl sulfoxide (DMSO) as a solvent improved the solubility of metal chlorides at room temperature, which was crucial to avoid metal-hydroxylation. In this sense, a mechanism for the solvation of metal chloride precursors in an aprotic media is proposed. Different sulfurization temperatures allowed the presence of diverse crystalline structures of Cu2SnS3, corroborated by Raman Spectroscopy and X-ray diffraction. For the substoichiometric composition Cu/Sn = 1.76 and a temperature annealing interval of 350–600 °C, the films showed the monoclinic-Cu2SnS3 phase. While for the stoichiometric composition Cu/Sn = 2, the tetragonal-Cu2SnS3 phase was present between 300 and 400 °C. At 500 °C, the Cu content increase allows the orthorhombic-Cu3SnS4 phase formation. The presence of Sn4+ and Cu+ species was confirmed by X-ray photoelectron spectroscopy (XPS) measurements. Simultaneously, electronic structures of the surface of the film were obtained by XPS combined with inverse photoemission spectroscopy (IPES). Bandgap values were 1.33 eV, 1.25 eV, and 1.15 eV for those films with tetragonal, orthorhombic, and monoclinic phases. The proximity of the valence band maximum (VBM) to the Fermi level causes that these compounds have a p-type nature, producing a small cliff in the conduction band alignment at the CdS/CTS interface. Photoresponse measurements revealed that all the samples are photoconductive to be considered as an option for solar applications.

In this study, chitosan was chemically modified with 2-methylpyridine. Subsequently, the modified chitosan was cross-linked to cellulose using succinic anhydride. Additionally, the capacity of cellulose derivatives to adsorb Pb(II) ions in an aqueous solution was studied through the determination of Pb(II) ions concentration in water, using microwave plasma atomic emission spectroscopy (MP-AES). A maximum adsorption capacity of 6.62, 43.14, 60.6, and 80.26 mg/g was found for cellulose, cellulose-succinic acid, cellulose-chitosan, and cellulose-chitosan-pyridine, respectively. The kinetic data analysis of the adsorption process showed a pseudo-second-order behavior. The increase in metal removal from water is possibly due to metal chelation with the carbonyl group of succinic acid, and the pyridine groups incorporated into chitosan.

Aspergillus is an opportunistic fungus present in humid environments, whose natural environment is in soil, hay and compost. It is a frequent contaminant in the clinical laboratory. Because of this, the fungus is often inhaled, affecting those with an underlying pulmonary disease or immune deficiency. Fungal genitourinary tract infections are relatively common. A rare Aspergillus spp cervical infection diagnosed via liquid-based cytology is presented in the current study. The 57-year-old woman attended her annual check-up without any relevant medical history. The result of a gynecological examination by Papanicolaou smear was normal and routine liquid-based cytology was performed. The specimen exhibited fungal organisms characterized by septate hyphae branching at acute angles, most consistent with the Aspergillus species. Subsequent cytology demonstrated the same results. Antifungal treatment was initiated and a second post-treatment smear only exhibited atrophy. The cytomorphological features of Aspergillus spp. are discussed in the current study and a brief review of the few reported cases of a primary cervical infection in the literature is provided. In addition, the liquid-based cytology was established as a tool to diagnose the rare Aspergillus infection.

Background Male EBP disorder with neurologic defects (MEND) syndrome is an X‐linked disease caused by hypomorphic mutations in the EBP (emopamil‐binding protein) gene. Modifier genes may explain the clinical variability among individuals who share a primary mutation. Methods We studied four males (Patient 1 to Patient 4) exhibiting a descending degree of phenotypic severity from a family with MEND syndrome. To identify candidate modifier genes that explain the phenotypic variability, variants of homeostasis cholesterol genes identified by whole‐exome sequencing (WES) were ranked according to the predicted magnitude of their effect through an in‐house scoring system. Results Twenty‐seven from 105 missense variants found in 45 genes of the four exomes were considered significant (−5 to −9 scores). We found a direct genotype–phenotype association based on the differential accumulation of potentially functional gene variants among males. Patient 1 exhibited 17 variants, both Patients 2 and 3 exhibited nine variants, and Patient 4 exhibited only five variants. Conclusion We conclude that APOA5 (rs3135506), ABCA1 (rs9282541), and APOB (rs679899 and rs12714225) are the most relevant candidate modifier genes in this family. Relative accumulation of the deficiencies associated with variants of these genes along with other lesser deficiencies in other genes appears to explain the variable expressivity in MEND syndrome.

Background : Excess body weight has become a major public health problem worldwide, and the burden of overweight and obesity was calculated in this work from a health economics perspective. Objective : To estimate the burden of disease attributable to overweight and obesity among males and females aged 20 years and older using years of life lost (YLL) and age-standardized YLL rates (ASYLL), and to rank the leading causes of premature death. Design : A cross-sectional study took place (2010–2014) and 6,054 deaths were analyzed. Thirteen basic causes of death associated with overweight or obesity were included. The population attributable fraction (PAF), YLL, and ASYLL were calculated. Results : The overall burden attributable to overweight and obesity was 36,087 YLL, and the estimated ASYLL per 10,000 persons was 1,098 and 1,029 in males and females, respectively. Type 2 diabetes mellitus was the main cause of premature death (males, 968 ASYLL; females, 772 ASYLL). Conclusions : Overweight and obesity are major risk factors of chronic diseases that are main causes of premature death in the study population. Strategies for preventing overweight and obesity may decrease the incidence and mortality associated with these non-communicable diseases. ASYLL seems to be an indicator that is particularly well adapted to decision-making in public health.