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1.
Neurosurg Rev ; 47(1): 195, 2024 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-38668866

RESUMO

This critique evaluates the systematic review and meta-analysis titled "Local anesthesia with sedation and general anesthesia for the treatment of chronic subdural hematoma." The study provides valuable insights into anesthesia techniques' effectiveness in managing this condition but has limitations, including selection bias, heterogeneity among cases, lack of standardized protocols, and retrospective design. Despite these limitations, the review contributes to understanding chronic subdural hematoma management but underscores the need for future research to address these shortcomings.


Assuntos
Anestesia Geral , Anestesia Local , Hematoma Subdural Crônico , Humanos , Hematoma Subdural Crônico/cirurgia , Anestesia Local/métodos , Anestesia Geral/métodos , Sedação Consciente/métodos
2.
Neurosurg Rev ; 47(1): 158, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38625445

RESUMO

This critique provides a critical analysis of the outcomes following occipito-cervical fusion in patients with Ehlers-Danlos syndromes (EDS) and craniocervical instability. The study examines the efficacy of the surgical intervention and evaluates its impact on patient outcomes. While the article offers valuable insights into the management of EDS-related craniocervical instability, several limitations and areas for improvement are identified, including sample size constraints, the absence of a control group, and the need for long-term follow-up data. Future research efforts should focus on addressing these concerns to optimize treatment outcomes for individuals with EDS.


Assuntos
Publicações , Fusão Vertebral , Humanos , Tamanho da Amostra
3.
Neurosurg Rev ; 47(1): 134, 2024 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-38561506

RESUMO

This critique evaluates a recent study on a nomogram based on radiomics and clinical data to predict the prognosis of percutaneous balloon compression (PBC) for trigeminal neuralgia (TN), focusing on its strengths, weaknesses, and suggestions for future research. It acknowledges the innovative approach's potential to personalize treatment and improve outcomes, but raises concerns about the study's retrospective nature, sample size limitations, and challenges in implementing radiomics in clinical practice. Overall, although the nomogram offers promise, further validation in larger cohorts is essential to confirm its utility and reliability. Future research should prioritize prospective multicenter studies with standardized protocols, collaborative efforts among institutions, and innovative techniques to advance our understanding and management.


Assuntos
Neuralgia do Trigêmeo , Humanos , Neuralgia do Trigêmeo/diagnóstico por imagem , Neuralgia do Trigêmeo/cirurgia , Estudos Retrospectivos , Nomogramas , Estudos Prospectivos , 60570 , Reprodutibilidade dos Testes , Prognóstico , Resultado do Tratamento
4.
Neurosurg Rev ; 47(1): 136, 2024 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-38561568

RESUMO

This letter offers a nuanced evaluation of the recent study on single-cell transcriptome analysis of ECM-remodeling meningioma cells. While acknowledging the positive aspects, such as enhanced understanding of tumor heterogeneity and identification of potential therapeutic targets, it also highlights potential limitations, including challenges in data interpretation and validation.The focus on ECM-remodeling may inadvertently overshadow other critical aspects of tumor biology, necessitating a more holistic approach. The abstract concludes by emphasizing the importance of considering the broader context of tumor heterogeneity and microenvironmental influences in future research endeavors to improve clinical outcomes for patients with meningioma and other malignancies.


Assuntos
Neoplasias Meníngeas , Meningioma , Humanos , Meningioma/genética , Meningioma/patologia , Análise da Expressão Gênica de Célula Única , Matriz Extracelular/patologia , Neoplasias Meníngeas/genética , Neoplasias Meníngeas/patologia
5.
Neurosurg Rev ; 47(1): 156, 2024 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-38609680

RESUMO

The recent publication titled "Optimizing Surgical Approaches for Anterior Communicating Artery Aneurysms: Development and Internal Validation of a Novel Surgical Scoring System" presents a groundbreaking study in neurosurgery. This critique examines both the positive and negative impacts of the research. Positive aspects include the potential to improve patient outcomes through personalized surgical approaches guided by a standardized scoring system. Internal validation enhances the credibility of the scoring system. However, challenges such as the need for external validation and additional surgeon training are acknowledged. Overall, while the study offers promising advancements, further research and validation are essential for widespread implementation in clinical practice.


Assuntos
Aneurisma Intracraniano , Neurocirurgia , Cirurgiões , Humanos , Aneurisma Intracraniano/cirurgia , Procedimentos Neurocirúrgicos
6.
Neurosurg Rev ; 47(1): 148, 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38600310

RESUMO

The "Letter to the Editor" titled "Scalp incision technique for decompressive hemicraniectomy: comparative systematic review and meta-analysis of the reverse question mark versus alternative retroauricular and Kempe incision techniques of published cases" provides a detailed analysis of different scalp incision techniques in decompressive hemicraniectomy procedures. While commendable for its systematic approach and valuable insights, the letter has several limitations, including a lack of transparency in the search strategy, failure to address potential sources of bias, and a narrow focus on technical aspects without considering broader outcome domains and practical considerations. Despite these limitations, the letter underscores the importance of evidence-based decision-making in neurosurgical practice and calls for further research to address these gaps.


Assuntos
Craniectomia Descompressiva , Couro Cabeludo , Humanos , Couro Cabeludo/cirurgia , Resultado do Tratamento , Revisões Sistemáticas como Assunto , Metanálise como Assunto
7.
Water Environ Res ; 96(3): e11006, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38444299

RESUMO

This research article demonstrates the synthesis, characterization, and electrochemical evaluation of a molecularly imprinted polymer (MIP) on the surface of silanized graphene oxide (silanized GO), which is nanostructured and used to quantify 17-estradiol (E2) in wastewater. As characterization methods, X-ray diffraction (XRD), Raman spectroscopy, dynamic scattering light (DSL), scanning electron microscope (SEM), and Fourier transform infrared spectroscopy (FTIR) were utilized to examine the synthesized GO, silanized GO, MIP-GO composite, and non-imprinted polymer (NIP)-GO (NIP-GO) composite. FTIR results confirmed the successful synthesis of GO composites. Raman study confirmed the synthesis of monolayer silanized GO, MIP-GO composite, and NIP-GO composite. Surface morphology revealed that after polymerization, the surface of silanized GO sheet-like morphology is covered with nanoparticles. Adsorption kinetics studies revealed that adsorption follows the pseudo-second-order kinetics. Further, we studied the performance of a MIP-GO-based sensor by optimizing the effects of pH, scan rate, and incubation period. The linear calibration was achieved between the oxidation peak current and E2 concentration from 0.1 to 0.81 ppm, with a detection limit of 0.037 ppm. The selectivity of the MIP-GO composite was also checked by using other estrogens, and it was found that E2 is 3.3, 0.5, and 1.4 times more selective than equilin, estriol, and estrone, respectively. The composite was successfully applied to the wastewater samples for the detection of E2, and a good percentage of recoveries were achieved. It suggests that the reported composite can be applied to real samples. PRACTITIONER POINTS: An innovative electrochemical sensor was developed for selective detection of 17-estradiol through molecularly imprinted polymer fabricated on the surface of silanized GO (MIP-GO composite). The developed method was comprehensively validated and found to be linear in the range of 0.1 to 0.8 ppm of 17-estradiol, with 0.037 ppm of limit of detection and 0.1 ppm of limit of quantification, respectively. The developed MIP-GO-composite-based electrochemical sensor was found 3.3, 0.5, and 1.4 times more selective for 17-estradiol than equiline, estriol, and estrone, respectively. The applicability of a developed sensor was also checked on wastewater samples, and a good percent recovery was obtained.


Assuntos
Estradiol , Grafite , Polímeros Molecularmente Impressos , Estrona , Águas Residuárias , Polímeros , Estriol
8.
Neurosurg Rev ; 47(1): 106, 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38453788

RESUMO

This retrospective cohort study aimed to investigate the impact of low fibrinogen levels on in-hospital mortality and 6-month functional outcomes in patients with traumatic brain injury (TBI) within a single center,focusing on the strengths, weaknesses, and suggestions for future research. Patients were followed up to assess in-hospital mortality and functional outcomes at six months post-injury using standardized scales. Statistical analyses, including multivariable regression models, were employed to evaluate the association between low fibrinogen levels and outcomes, adjusting for potential confounders, and revealed a significant association between low fibrinogen levels and increased in-hospital mortality rates among patients with TBI (p < 0.05). Additionally, patients with low fibrinogen levels exhibited poorer functional outcomes at the 6-month follow-up, as evidenced by lower scores on functional assessment scales than those with normal fibrinogen levels, suggesting that low fibrinogen levels upon admission may serve as a prognostic indicator for adverse outcomes in patients with TBI, including higher in-hospital mortality rates and impaired functional recovery at 6 months post-injury. Furthermore, this study explored conservative and surgical management approaches, offering valuable insights into treatment decision-making and outcomes. Future research should prioritize prospective, multicenter studies with standardized protocols, collaborative efforts among institutions, and innovative techniques to advance our understanding and management.


Assuntos
Lesões Encefálicas Traumáticas , Humanos , Estudos Retrospectivos , Estudos Prospectivos , Mortalidade Hospitalar , Lesões Encefálicas Traumáticas/cirurgia , Fibrinogênio
10.
Neurosurg Rev ; 47(1): 119, 2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38498216

RESUMO

This critique evaluates a recent study on the management of cerebrospinal fluid-related intracranial abnormalities in frontoethmoidal encephalocele, as explored in a retrospective cohort study titled "Shunt Algorithm for Frontoethmoidal Encephalocele (SAFE): A Retrospective Cohort Study of Published Cases." focusing on their strengths, weaknesses, and suggestions for future research. This highlights the positive impacts of the SAFE algorithm in standardizing treatment protocols, improving patient outcomes, and enhancing our understanding of the condition through collaborative data analysis. However, it also addresses limitations, such as potential biases in retrospective data analysis and the need for individualized patient care. This abstract emphasizes the significance of continued research and multidisciplinary collaboration in refining the treatment strategies for frontoethmoidal encephaloceles. Prospective, multicenter studies with standardized protocols, collaborative efforts among institutions, and innovative techniques are needed to advance our understanding and management.


Assuntos
Encefalocele , Humanos , Encefalocele/cirurgia , Estudos Retrospectivos , Estudos Prospectivos
11.
Neurosurg Rev ; 47(1): 99, 2024 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-38413501

RESUMO

This critique evaluates a recent study on adult traumatic atlantoaxial rotatory fixation (AARF), focusing on its strengths, weaknesses, and suggestions for future research. The study provides a comprehensive examination of the anatomical and biomechanical complexities of the C1-C2 articulation, shedding light on the rare nature of adult traumatic AARF and common injury mechanisms. It categorizes AARF based on the atlanto-dental interval (ADI) and dislocation severity, aiding clinicians in assessing injury severity and treatment planning. Furthermore, the study explores conservative and surgical management approaches, offering valuable insights into treatment decision-making and outcomes. However, limitations such as its retrospective nature, reliance on reported cases, lack of standardized protocols, and limited sample size may constrain the generalizability of findings. Future research should prioritize prospective, multicenter studies with standardized protocols, collaborative efforts among institutions, and innovative techniques to advance our understanding and management of adult traumatic AARF.


Assuntos
Articulação Atlantoaxial , Luxações Articulares , Adulto , Humanos , Articulação Atlantoaxial/cirurgia , Articulação Atlantoaxial/lesões , Luxações Articulares/cirurgia , Luxações Articulares/diagnóstico , Revisões Sistemáticas como Assunto
12.
Womens Health (Lond) ; 20: 17455057241227364, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38282529

RESUMO

INTRODUCTION: Anemia is a significant public health concern, primarily affecting young children, pregnant and postpartum women, and menstruating adolescent girls and women. This study aimed to evaluate the prevalence of anemia and associated factors in women of reproductive age visiting a tertiary care hospital in Karachi, Pakistan. OBJECTIVE: The primary objective was to determine the prevalence of anemia in women of reproductive age, while the secondary objective was to investigate potential causes of anemia within this demographic group. DESIGN: A prospective cross-sectional approach was employed, adhering to Strengthening the Reporting of Observational Studies in Epidemiology guidelines. A questionnaire-based method was used to assess anemia, and data were collected from women aged 14 to 40 years. METHOD: The study was conducted at the Jinnah Postgraduate Medical Center from January to May 2023. The study was approved by the Institutional Review Board of Jinnah Sindh Medical University (Institutional Review Board reference number JSMU/IRB/2023/699). A sample of 397 women was included, and various demographic and lifestyle factors were assessed. RESULTS: In this study of 397 participants, 71.5% were found to have anemia, primarily microcytic anemia (48.2%). Anemia prevalence was highest among the 14-18 years age group (80.7%) and those from lower socioeconomic backgrounds (73.6%). Factors such as frequent tea consumption, irregular mealtimes, and pica consumption were associated with higher anemia rates. Pregnant women and those with more children were at a heightened risk of anemia. CONCLUSION: The study reveals a notable prevalence of anemia among women of reproductive age with a surprising emphasis on younger individuals and lower socioeconomic groups. Dietary habits, lifestyle choices, and pregnancy status play significant roles in anemia development. Targeted interventions are essential, particularly for younger women, those from disadvantaged backgrounds, and pregnant individuals, to combat anemia effectively in this region.


Anemia is a widespread health concern, especially in young children, pregnant women, and menstruating adolescent girls. This condition, characterized by low hemoglobin levels, leads to insufficient oxygen delivery to organs. Globally, nearly 30% of women of reproductive age suffer from anemia, with a higher prevalence in certain regions such as Pakistan. This study aimed to assess anemia prevalence and associated factors among women of reproductive age in Karachi, Pakistan. Of the 397 participants, 71.5% were anemic. Microcytic anemia was more prevalent than macrocytic anemia. Various factors contributed to anemia, including age (highest prevalence in 14 to 18 years), lower socioeconomic status, irregular meal times, and frequent tea consumption. Surprisingly, individuals who consumed iron supplements exhibited a higher prevalence of anemia. Factors contributing to higher rates of anemia included frequent tea consumption, irregular mealtimes, and the consumption of non-nutritive substances (pica). Pregnant women and those with more children were identified as having an increased risk of anemia. In addition, women with hectic schedules were more prone to anemia. These results highlight the importance of lifestyle choices, dietary habits, and pregnancy status in the development of anemia. The study underscores the need for targeted interventions to address anemia effectively, with a particular focus on younger women, individuals from disadvantaged backgrounds, and pregnant women. By understanding the specific factors contributing to anemia in this population, public health strategies can be tailored to address the unique needs of these groups, ultimately improving the overall health outcomes for women of reproductive age in the region.


Assuntos
Anemia , Adolescente , Feminino , Humanos , Gravidez , Anemia/epidemiologia , Anemia/etiologia , Estudos Transversais , Prevalência , Estudos Prospectivos , Fatores de Risco , Centros de Atenção Terciária , Adulto Jovem , Adulto
14.
Surg Neurol Int ; 14: 449, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38213424

RESUMO

Background: Chronic subdural hematoma (CSDH) is a condition characterized by the accumulation of fluid, blood, and blood breakdown products between the brain's arachnoid and dura mater coverings. While steroids have been explored as a potential treatment option, their efficacy and safety remain uncertain. This meta-analysis and systematic review aimed to assess the impact of steroids on CSDH management, including mortality, recurrence, complications, and functional outcomes. Methods: We conducted a comprehensive literature search in major electronic databases up to June 2023, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and Cochrane Handbook for Systematic Reviews and Interventions. Inclusion criteria encompassed adult patients with CSDH, the use of steroids as monotherapy or adjuvant therapy, and clearly defined outcomes. Randomized controlled trials and cohort studies meeting these criteria were included in the study. Results: The initial search yielded 4315 articles, with 12 studies meeting the inclusion criteria. Our findings indicate a non-significant trend toward reduced mortality with steroids in combination with standard care (Odds ratios [OR] = 0.66, 95% confidence interval [CI] 0.20-2.18). However, substantial heterogeneity was observed (I2 = 70%). Sensitivity analysis, excluding influential studies, suggested a potential increased mortality risk associated with steroids (OR = 1.47, 95% CI 0.87-2.48). Steroids showed a possible benefit in reducing the recurrence of CSDH (OR = 0.58, 95% CI 0.20-1.67), but with significant heterogeneity (I2 = 89%). No clear advantage of steroids was observed in terms of functional outcomes at three months (modified Rankin scale scores). Furthermore, steroids were associated with a significantly higher incidence of adverse effects and complications (OR = 2.17, 95% CI 1.48-3.17). Conclusion: Steroids may have a potential role in reducing CSDH recurrence but do not appear to confer significant advantages in terms of mortality or functional outcomes. However, their use is associated with a higher risk of adverse effects and complications. Given the limitations of existing studies, further research is needed to refine the role of steroids in CSDH management, considering patient-specific factors and treatment protocols.

15.
Saudi J Biol Sci ; 29(2): 1092-1099, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35197778

RESUMO

Salmonella enteric serovar Typhimurium is the most common enteric pathogen in humans and animals. Consumption of contaminated food or water triggers inflammation that allows Salmonella to spread into the gut and causes gastrointestinal diseases. The infection spreads by intestinal invasion, phagocyte internalization and subsequent dissemination in many other patients. This research used TolA, a Salmonella typhimurium membrane protein, to computationally design a multi-epitope vaccine against the pathogen. Complete consistency of the candidate vaccine was checked In silico, and molecular dynamics simulations confirmed the vaccine's stability. According to docking report, the vaccine has a good affinity with toll-like receptors. In silico cloning and codon optimization techniques improved the vaccine's efficacy in Salmonella typhimurium manifestation process. The candidate vaccine induced an efficient immune response, as determined by In silico immune simulation. Computational studies revealed that the engineered multi-epitope vaccine is structurally stable, capable of eliciting particular immunological reactions, and therefore a candidate for a latent Salmonella typhimurium vaccine. However, wet lab studies and further investigations are required to confirm the results.

16.
RSC Adv ; 11(32): 19647-19655, 2021 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-35479244

RESUMO

In this study we report an environmentally friendly, facile and straightforward sonochemical synthetic strategy for a Co3O4/GO nanocomposite using N,N'-bis(salicylidene)ethylenediaminocobalt(ii) as a precursor and graphene oxide sheets as an immobilization support for Co3O4 nanoparticles. The synthesis was facilitated by physical and chemical effects of cavitation bubbles. The synthesized nanocomposite was thoroughly characterized for its composition and morphology using Fourier transform infrared spectroscopy (FTIR), Energy dispersive X-ray spectroscopy (EDS), Scanning electron microscopy (SEM), UV-visible, Raman and X-ray diffraction spectroscopy (XRD), etc. The results show Co3O4 nanoparticles of 10 nm (SD 3 nm) were prepared on well exfoliated sheets of GO. The applicability of the synthesized Co3O4/GO nanocomposite was optimized as a nanofiller for mixed matrix membranes (MMMs) comprised of poly(2-acrylamido-2-methyl-1-propanesulfonic acid) and polyvinyl chloride. The affinity of the prepared MMMs was evaluated for the separation of O2/N2 gases by varying the concentration of nanofiller, i.e. 0.03%, 0.04%, 0.05% and 0.075% (w/v). The results display high separation performance for O2/N2 gases with excellent permeance (N2 167 GPU and O2 432 GPU at 1 bar) and O2/N2 selectivity of 2.58, when the MMMs were loaded with 0.05% (w/v) of Co3O4/GO nanocomposite.

17.
Toxicol Res (Camb) ; 8(6): 815-832, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-34055308

RESUMO

We have investigated the protective potential of methanol extract of Iphiona aucheri (IAM) on the expression of endoplasmic reticulum (ER) stress associated genes and inflammatory genes on carbon tetrachloride (CCl4) induced hepatic toxicity in rats. Hepatic damage markers: aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP) and bilirubin were elevated while the content of antioxidants: catalase (CAT), superoxide dismutase (SOD), peroxidase (POD) and reduced glutathione (GSH) were decreased significantly (p < 0.05) in CCl4 treated rats as compared to the control group. The CCl4 intoxication induced a higher expression of glucose-regulated protein 78 kDa (GRP78), X-box-binding protein 1 total (XBP1t), spliced X-box-binding protein 1 (XBP1s), unspliced X-box-binding protein 1 (XBP1u), C/EBP homologous protein (CHOP) and genes involved in inflammation and fibrosis: tumor necrosis factor alpha (TNF-α), transforming growth factor-beta (TGF-ß), mothers against DPP homolog 3 (SMAD3), alpha skeletal muscle actin (αSMA) and collagen type I alpha 1 chain (COL1A1). The intoxicated rats showed a low expression of the glutamate-cysteine ligase catalytic subunit (GCLC), protein disulfide isomerase (PDI) and nuclear factor (erythroid-derived 2) like-2 (Nrf2). The administration of IAM to intoxicated rats restored the expression of ER stress, inflammatory, fibrosis and antioxidant genes in a dose dependent manner. Our results indicated that IAM can impede the ER stress and inflammatory genes and it could be a complementary and alternative therapeutic agent for oxidative stress associated disorders.

18.
Hum Genet ; 137(9): 735-752, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30167849

RESUMO

Identification of Mendelian genes for neurodevelopmental disorders using exome sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly successful. To identify causal variants for syndromic and non-syndromic intellectual disability (ID), exome sequencing was performed using DNA samples from 22 consanguineous Pakistani families with ARID, of which 21 have additional phenotypes including microcephaly. To aid in variant identification, homozygosity mapping and linkage analysis were performed. DNA samples from affected family member(s) from every pedigree underwent exome sequencing. Identified rare damaging exome variants were tested for co-segregation with ID using Sanger sequencing. For seven ARID families, variants were identified in genes not previously associated with ID, including: EI24, FXR1 and TET3 for which knockout mouse models have brain defects; and CACNG7 and TRAPPC10 where cell studies suggest roles in important neural pathways. For two families, the novel ARID genes CARNMT1 and GARNL3 lie within previously reported ID microdeletion regions. We also observed homozygous variants in two ID candidate genes, GRAMD1B and TBRG1, for which each has been previously reported in a single family. An additional 14 families have homozygous variants in established ID genes, of which 11 variants are novel. All ARID genes have increased expression in specific structures of the developing and adult human brain and 91% of the genes are differentially expressed in utero or during early childhood. The identification of novel ARID candidate genes and variants adds to the knowledge base that is required to further understand human brain function and development.


Assuntos
Genes Recessivos , Marcadores Genéticos , Deficiência Intelectual/genética , Mutação , Transtornos do Neurodesenvolvimento/genética , Adulto , Consanguinidade , Família , Feminino , Humanos , Deficiência Intelectual/complicações , Masculino , Pessoa de Meia-Idade , Transtornos do Neurodesenvolvimento/complicações , Linhagem
19.
J Med Genet ; 54(3): 186-189, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-27965375

RESUMO

BACKGROUND: Progressive symmetric erythrokeratoderma (PSEK) is a rare skin disorder characterised by symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, with new plaques appearing over time. Most cases are inherited in an autosomal dominant manner, although a few cases exhibit apparent autosomal recessive inheritance. OBJECTIVE: To identify the gene underlying autosomal recessive PSEK in a large Pakistani kindred. METHODS: We first carried out autozygosity mapping using microsatellite markers in candidate regions of the genome. We then carried out exome sequencing of five family members, autozygosity mapping and mutation analysis using the exome data and verification by Sanger sequencing. RESULTS: Autozygosity mapping and exome sequencing identified a homozygous frameshift deletion (c.811delA; p.Ser271fs) in KRT83, which co-segregated with the PSEK phenotype in the family and which is expected to abolish keratin 83, a type II keratin of hair and skin. CONCLUSIONS: At least some cases of PSEK result from loss-of-function mutations in KRT83. Heterozygous missense substitutions in KRT83 have been implicated in autosomal dominant monilethrix, a rare hair disorder. Our findings indicate that at least some cases of autosomal recessive PSEK and autosomal dominant monilethrix are allelic, respectively resulting from loss-of-function and missense mutations in the KRT83 gene. Together, these findings indicate that different types of mutations in KRT83 can result in quite different skin and hair phenotypes.


Assuntos
Eritroceratodermia Variável/genética , Queratinas Específicas do Cabelo/genética , Queratinas Tipo II/genética , Monilétrix/genética , Alelos , Eritroceratodermia Variável/patologia , Exoma/genética , Feminino , Cabelo/metabolismo , Cabelo/patologia , Heterozigoto , Homozigoto , Humanos , Masculino , Monilétrix/patologia , Mutação de Sentido Incorreto , Paquistão , Linhagem , Fenótipo , Deleção de Sequência , Pele/metabolismo , Pele/patologia
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