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1.
Pacing Clin Electrophysiol ; 46(10): 1246-1250, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37697953

RESUMO

INTRODUCTION: Extracorporeal cardiopulmonary resuscitation (ECPR) is a resuscitation method for patients with refractory out-of-hospital cardiac arrest (OHCA). However, evidence from randomized controlled trials (RCTs) is lacking. METHODS: We searched several electronic databases until March 2023 for RCTs comparing ECPR with conventional CPR in OHCA patients. RevMan 5.4 was used to pool risk ratios (RR) with 95% confidence intervals (CIs). RESULTS: A total of four RCTs were included. The results of our meta-analysis showed no statistically significant benefit of ECPR regarding mid-term survival (RR 1.21; 95% CI 0.64 to 2.28; I2 = 48%; p = .55). We found a significant improvement with ECPR in mid-term favorable neurological outcome (RR 1.59; 95% CI 1.09 to 2.33; I2 = 0%; p = .02). There was no significant difference between ECPR and conventional CPR in long-term survival (RR 1.32; 95% CI 0.18 to 9.50; I2 = 64%; p = .79), and long-term favorable neurological outcome (RR 1.47; 95% CI 0.89 to 2.43; I2 = 25%; p = .13). There was an increased incidence of adverse events in the ECPR group (RR 3.22; 95% CI 1.18 to 8.80; I2 = 63%; p = .02). CONCLUSION: ECPR in OHCA patients was not associated with improved survival or long-term favorable neurological outcome but did improve favorable neurological outcome in the mid-term. However, these results are likely underpowered due to the small number of available RCTs. Large-scale confirmatory RCTs are needed to provide definitive conclusions.


Assuntos
Reanimação Cardiopulmonar , Oxigenação por Membrana Extracorpórea , Parada Cardíaca Extra-Hospitalar , Humanos , Parada Cardíaca Extra-Hospitalar/terapia , Resultado do Tratamento , Oxigenação por Membrana Extracorpórea/métodos , Ensaios Clínicos Controlados Aleatórios como Assunto , Estudos Retrospectivos
2.
Transfus Med ; 33(4): 287-289, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36883373

RESUMO

BACKGROUND: Red blood cell exchange is the cornerstone of the management for acute complications of sickle cell disease. It improves anaemia and improvesperipheral tissue oxygen delivery while at the same time reduces the proportion of circulating sickle erythrocytes. Even though automated red cell exchange is very effective in rapidly lowering the Hb S level, 24-h availability is currently not feasible for most specialist centres including our own. OBJECTIVE: Here, we describe our experience using both automated and manual red cell exchange for the management of acute sickle cell complications. METHODS: Eighty-six such episodes have been recorded between June 2011 and June 2022 comprising of 68 episodes of automated and 18 episodes of manual red cell exchange. RESULTS: The post procedure Hb S/S + C level was 18% after automated and 36% after manual red cell exchange. The platelet count dropped by 41% and 21% after automated and manual red cell exchange respectively. The clinical outcomes including need for organ support, duration of stay in the intensive care unit and overall length of hospitalisation was comparable between the two groups. CONCLUSION: In our experience, manual red cell exchange is a safe and effective alternative to an automated procedure that can be used while specialist centres are building up their capacity to offer automated red cell exchange for all patients requiring the intervention.


Assuntos
Anemia Falciforme , Remoção de Componentes Sanguíneos , Humanos , Transfusão de Eritrócitos/métodos , Eritrócitos , Hospitalização
3.
World J Surg ; 46(4): 813-819, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35022799

RESUMO

BACKGROUND: Secondary hyperparathyroidism in patients with end stage renal disease on dialysis is associated with bone pain and fractures in addition to cardiovascular morbidity. Cinacalcet is the most commonly used drug to treat such patients, but it has never been compared to surgery. The goal of this study is to compare the long-term outcomes and survival between cinacalcet and parathyroidectomy in the treatment of secondary hyperparathyroidism in hemodialysis patients. METHODS: Adult patients on hemodialysis who were treated with cinacalcet or parathyroidectomy in the United States Renal Data System were included. Patients treated with surgery (n = 2023) were compared using 1:1 propensity score matching ratio to a cohort of patients treated with cinacalcet. A Cox regression analysis was conducted to compare the overall mortality. RESULTS: The propensity score matching successfully created two groups with similar demographics. Patients in the surgery group had a higher mean peak PTH level prior to therapy (2066.8 vs 1425.4, P < 0.001). No difference was observed in the development of new-onset coronary artery disease (7.7% vs 7.9%, P = 0.8) or cerebrovascular disease (7% vs 6.7%, P = 0.8). Surgical patients had a higher rate of pathologic fractures (27.8% vs 24.9%, P = 0.04). Survival analysis showed that patients undergoing surgery had a better 5-year survival (65.6% vs 57.8%) and were less likely to die within the study period (HR 0.77, 95% CI 0.7-0.85, P < 0.0001). CONCLUSIONS: Patients on dialysis undergoing parathyroidectomy for the treatment of secondary hyperparathyroidism have a better overall survival than those treated with cinacalcet.


Assuntos
Hiperparatireoidismo Secundário , Falência Renal Crônica , Adulto , Cinacalcete/uso terapêutico , Feminino , Humanos , Hiperparatireoidismo Secundário/tratamento farmacológico , Hiperparatireoidismo Secundário/etiologia , Hiperparatireoidismo Secundário/cirurgia , Falência Renal Crônica/cirurgia , Falência Renal Crônica/terapia , Masculino , Hormônio Paratireóideo/uso terapêutico , Paratireoidectomia , Diálise Renal/efeitos adversos , Estados Unidos
4.
J Clin Lab Anal ; 36(3): e24271, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35118733

RESUMO

BACKGROUND: Diagnosing D-Dimer early is essential to optimize clinical treatment and quality of life and reduce mortality. This study aims to identify the difference of D-Dimer levels (ng/ml) in patients with stroke within the 6- and 24-h period compared to patients that mimic stroke. METHODS: An electronic database search across PubMed/MEDLINE, Cochrane, Web of Science, CINAHL, EMBASE, and Scopus was conducted until December 10, 2021. Studies were eligible if they included adult patients with stroke compared to stroke mimics or controls reporting D-Dimer values. Quality assessment was conducted using GRADE. The standardized mean difference and 95% confidence intervals were calculated in addition to the difference of means in the crude form. Heterogeneity was assessed using Cochran's Q statistic and the I2 index. A random-effects model was used. The statistical analysis was conducted using RevMan 5.4. RESULTS: Out of 2901, there were 318 (11%) participants from upper-middle-income countries, whereas the others were from high-income countries. Large positive effect size was found for D-Dimer in the stroke group (Cohen's d = 2.82 [1.73-3.9]; p < 0.00001), meaning that those with stroke had higher D-Dimer values on presentation compared to the stroke mimics/controls. A large difference in means was found in the two groups (MD = 685.1 [324.2, 1045.99]; p < 0.00001), suggesting that there was a significantly higher laboratory value in the stroke group. CONCLUSION: Our findings must be used in caution as the most reliable diagnostic tests for stroke are CT and MRI. Laboratory testing such as D-Dimer values is a valuable clinical adjuvant in diagnosing total stroke.


Assuntos
Qualidade de Vida , Acidente Vascular Cerebral , Adulto , Produtos de Degradação da Fibrina e do Fibrinogênio , Humanos , Acidente Vascular Cerebral/diagnóstico
5.
BMC Genomics ; 21(1): 795, 2020 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-33198654

RESUMO

BACKGROUND: Valine-glutamine (VQ) motif-containing proteins play important roles in plant growth, development and abiotic stress response. For many plant species, the VQ genes have been identified and their functions have been described. However, little is known about the origin, evolution, and functions (and underlying mechanisms) of the VQ family genes in cotton. RESULTS: In this study, we comprehensively analyzed the characteristics of 268 VQ genes from four Gossypium genomes and found that the VQ proteins evolved into 10 clades, and each clade had a similar structural and conservative motif. The expansion of the VQ gene was mainly through segmental duplication, followed by dispersal. Expression analysis revealed that many GhVQs might play important roles in response to salt and drought stress, and GhVQ18 and GhVQ84 were highly expressed under PEG and salt stress. Further analysis showed that GhVQs were co-expressed with GhWRKY transcription factors (TFs), and microRNAs (miRNAs) could hybridize to their cis-regulatory elements. CONCLUSIONS: The results in this study broaden our understanding of the VQ gene family in plants, and the analysis of the structure, conserved elements, and expression patterns of the VQs provide a solid foundation for exploring their specific functions in cotton responding to abiotic stresses. Our study provides significant insight into the potential functions of VQ genes in cotton.


Assuntos
Gossypium , Proteínas de Plantas , Regulação da Expressão Gênica de Plantas , Gossypium/genética , Gossypium/metabolismo , Família Multigênica , Filogenia , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Estresse Fisiológico/genética , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo
6.
Curr Cardiol Rep ; 22(4): 18, 2020 02 08.
Artigo em Inglês | MEDLINE | ID: mdl-32036476

RESUMO

PURPOSE OF REVIEW: Sleep is an essential component of human health, and suboptimal sleep duration has been associated with increased cardiovascular morbidity and mortality. This review summarizes physiological and pathological effects of sleep duration on the cardiovascular system. RECENT FINDINGS: Both decreased and increased duration of sleep lead to increased cardiovascular mortality and has a U-shaped curve. Sleep apnea is an independent risk factor for atherosclerosis and hypertension, and its treatment with continuous positive airway pressure (CPAP) results in increased survival. Estimated sleep duration of 6-8 h is associated with decreased mortality and major cardiovascular events and should be addressed by clinicians during routine visits.


Assuntos
Doenças Cardiovasculares/etiologia , Distúrbios do Sono por Sonolência Excessiva/fisiopatologia , Apneia Obstrutiva do Sono/fisiopatologia , Sono/fisiologia , Doenças Cardiovasculares/mortalidade , Pressão Positiva Contínua nas Vias Aéreas , Distúrbios do Sono por Sonolência Excessiva/etiologia , Humanos , Hipertensão , Fatores de Risco
7.
Artigo em Inglês | MEDLINE | ID: mdl-30880897

RESUMO

Magnetic iron-oxide nanoparticles have been developed as contrast agents in magnetic resonance imaging (MRI) and as therapeutic agents in magnetic hyperthermia. They have also recently been demonstrated as contrast and elastography agents in magnetomotive optical coherence tomography and elastography (MM-OCT and MM-OCE, respectively). Protein-shell microspheres containing suspensions of these magnetic nanoparticles in lipid cores, and with functionalized outer shells for specific targeting, have also been demonstrated as efficient contrast agents for imaging modalities such as MM-OCT and MRI, and can be easily modified for other modalities such as ultrasound, fluorescence, and luminescence imaging. By leveraging the benefits of these various imaging modalities with the use of only a single agent, a magnetic microsphere, it becomes possible to use a widefield imaging method (such as MRI or small animal fluorescence imaging) to initially locate the agent, and then use MM-OCT to obtain dynamic contrast images with cellular level morphological resolution. In addition to multimodal contrast-enhanced imaging, these microspheres could serve as drug carriers for targeted delivery under image guidance. Although the preparation and surface modifications of protein microspheres containing iron oxide nanoparticles has been previously described and feasibility studies conducted, many questions regarding their production and properties remain. Since the use of multifunctional microspheres could have high clinical relevance, here we report a detailed characterization of their properties and behavior in different environments to highlight their versatility. The work presented here is an effort for the development and optimization of nanoparticle-based microspheres as multi-modal contrast agents that can bridge imaging modalities on different size scales, especially for their use in MM-OCT and MRI imaging.

8.
J Pak Med Assoc ; 68(9): 1397-1399, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30317274

RESUMO

Hepatitis E virus is the etiological agent for Hepatitis E infection, which is congruent to Hepatitis A infection. The clinical spectrum of the disease range from asymptomatic self-limiting disease which requires no treatment to life threatening fulminant liver disease in pregnancy, G6PD deficient and post-liver transplant patients, which necessitate urgent treatment. Similarly we are reporting a case of a 28 year old male with no previous known comorbids, who presented in emergency department with low grade fever, yellow discolouration of eyes and upper abdominal pain for last 5-6 days. We affirmed the diagnosis of acute viral hepatitis E with G6PD deficiency. This case had a different prospect of HEV infection and its coexistence with G6PD deficiency, which lead to investigations, management and avoidance of complications of the disease.


Assuntos
Deficiência de Glucosefosfato Desidrogenase , Hemólise , Vírus da Hepatite E , Hepatite E , Insuficiência Renal , Adulto , Anticorpos Antivirais/sangue , Transfusão de Sangue/métodos , Deficiência de Glucosefosfato Desidrogenase/complicações , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Hepatite E/sangue , Hepatite E/complicações , Hepatite E/fisiopatologia , Hepatite E/terapia , Vírus da Hepatite E/imunologia , Vírus da Hepatite E/isolamento & purificação , Humanos , Masculino , Diálise Renal/métodos , Insuficiência Renal/diagnóstico , Insuficiência Renal/etiologia , Insuficiência Renal/fisiopatologia , Insuficiência Renal/terapia , Índice de Gravidade de Doença , Resultado do Tratamento
9.
J Pak Med Assoc ; 67(2): 192-195, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28138169

RESUMO

OBJECTIVE: To evaluate the time required for isolation of aerobic bacterial pathogen from paediatric septicaemia suspects by using BACTEC 9240 blood culture system, and to compare the results with conventional blood culture technique. METHODS: This comparative cross-sectional study was conducted at the Jinnah Hospital, Lahore, Pakistan, from July to December 2013, and comprised blood samples of suspected septicaemia children. The blood samples were inoculated into automated BACTEC 9240 Peds Plus/F resin-based media. At the same time, conventional blood culture bottle was also inoculated for comparison. The time of culture positivity and bacterial spectrum isolated from these samples was evaluated. SPSS 20 was used for data analysis. RESULTS: Of the 100 blood culture samples, 36(36%) were true pathogens on BACTEC 9240, while 24(24%) were positive through the conventional method. The mean age of the participants was 0.65±20 days. Staphylococcus aureus was detected in 12(12%) samples by BACTEC 9240 and in 7(7%) cases by conventional system. BACTEC 9240 significantly reduced time of positivity from 48 hours to 21 hours compared to conventional system. The number of samples detected within 36 and 48 hours was 7(19.4%) by BACTEC 9240 and 17(70.8%) by conventional system (p<0.05). CONCLUSIONS: Diagnosis of paediatric septicaemia through BACTEC 9240 was quicker with high yield and great sensitivity compared to the conventional technique.


Assuntos
Hemocultura , Sepse/diagnóstico , Adolescente , Automação Laboratorial , Hemocultura/métodos , Hemocultura/normas , Hemocultura/estatística & dados numéricos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fatores de Tempo
10.
J Pak Med Assoc ; 67(10): 1600-1603, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28955082

RESUMO

Tuberculosis (TB) is an airborne infectious disease caused by Mycobacterium tuberculosis. The genus Mycobacterium comprises over 150 species. Non-tuberculosis Mycobacteria are the cause of opportunistic infections and frequently presents with similar clinical features like tuberculosis so species identification is important for management. The current study was designed for presumptive diagnosis of MTB by detecting MPT 64 and Cord formation and the sensitivity and specificity of Cord Formation in MGIT positive samples. A cross sectional study consists of 100 MGIT positive samples. Ziehl-Neelsen Staining was performed to detect Cord Factor and TBc ID was undertaken to detect MPT 64 protein. Out of 100 MGIT positive samples 92 were positive for Cord factor and 08 were negative, whereas 89 samples were positive on MGIT TBc Identification Device and 11 were negative. The sensitivity for TBc ID was 94.6% and specificity was 100% with Positive Predictive Value and Negative Predictive Value of 98.9% and 81.8% respectively. TBc ID and Cord Factor seem to be highly sensitive and specific for rapid diagnosis and accurate differentiation Mycobacterium tuberculosis from Non-tuberculosis.


Assuntos
Antígenos de Bactérias/metabolismo , Técnicas Bacteriológicas/métodos , Mycobacterium tuberculosis/química , Mycobacterium tuberculosis/metabolismo , Tuberculose/diagnóstico , Estudos Transversais , Humanos , Sensibilidade e Especificidade
11.
Pak J Med Sci ; 33(5): 1269-1272, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29142577

RESUMO

OBJECTIVE: To determine neonatal congenital hypothyroidism among neonates born in a tertiary care hospital of Lahore Pakistan. METHODS: This cross-sectional study was carried out at Pathology Department of Allama Iqbal Medical College, Lahore in collaboration with Pediatrics and Gynecology & Obstetrics Department, Jinnah Hospital, Lahore Pakistan. A total of 770 babies were included in this study, both male and female. About 2 ml venous blood samples were collected aseptically from the neonates in sterile clotted tube. Serum was separated and serum TSH was determined by ELISA method. RESULTS: Out of total 770 neonates, 48.9% were female and 51.0% were males with the ratio of 1:1.04. Neonatal congenital hypothyroidisim (TSH, >30 mIU/L), was observed in 0.4% (Frequency, 1:257) nenates, with the incidence rate of 1:257. Female to male ratio of hypothyroid neonates was 2:1. The mode of delivery vise distribution showed, among n=251 neonates born by normal delivery, only a single case of hypothyroidism was detected, and among n=519 neonates delivered by cesarean section, only two neonates were belong to hypothyroidism. CONCLUSION: The frequency of Congenital Hypothyroidism is notably higher in pediatric community than reported in most other countries. This result emphasizes the necessity of a nationwide screening program.

12.
Artigo em Inglês | MEDLINE | ID: mdl-28163565

RESUMO

Magnetic nanoparticles (MNPs) have been used in many diagnostic and therapeutic biomedical applications over the past few decades to enhance imaging contrast, steer drugs to targets, and treat tumors via hyperthermia. Optical coherence tomography (OCT) is an optical biomedical imaging modality that relies on the detection of backscattered light to generate high-resolution cross-sectional images of biological tissue. MNPs have been utilized as imaging contrast and perturbative mechanical agents in OCT in techniques called magnetomotive OCT (MM-OCT) and magnetomotive elastography (MM-OCE), respectively. MNPs have also been independently used for magnetic hyperthermia treatments, enabling therapeutic functions such as killing tumor cells. It is well known that the localized tissue heating during hyperthermia treatments result in a change in the biomechanical properties of the tissue. Therefore, we propose a novel dosimetric technique for hyperthermia treatment based on the viscoelasticity change detected by MM-OCE, further enabling the theranostic function of MNPs. In this paper, we first review the basic principles and applications of MM-OCT, MM-OCE, and magnetic hyperthermia, and present new preliminary results supporting the concept of MM-OCE-based hyperthermia dosimetry.

13.
Proc Natl Acad Sci U S A ; 109(19): 7175-80, 2012 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-22538815

RESUMO

Aberrations in optical microscopy reduce image resolution and contrast, and can limit imaging depth when focusing into biological samples. Static correction of aberrations may be achieved through appropriate lens design, but this approach does not offer the flexibility of simultaneously correcting aberrations for all imaging depths, nor the adaptability to correct for sample-specific aberrations for high-quality tomographic optical imaging. Incorporation of adaptive optics (AO) methods have demonstrated considerable improvement in optical image contrast and resolution in noninterferometric microscopy techniques, as well as in optical coherence tomography. Here we present a method to correct aberrations in a tomogram rather than the beam of a broadband optical interferometry system. Based on Fourier optics principles, we correct aberrations of a virtual pupil using Zernike polynomials. When used in conjunction with the computed imaging method interferometric synthetic aperture microscopy, this computational AO enables object reconstruction (within the single scattering limit) with ideal focal-plane resolution at all depths. Tomographic reconstructions of tissue phantoms containing subresolution titanium-dioxide particles and of ex vivo rat lung tissue demonstrate aberration correction in datasets acquired with a highly astigmatic illumination beam. These results also demonstrate that imaging with an aberrated astigmatic beam provides the advantage of a more uniform depth-dependent signal compared to imaging with a standard gaussian beam. With further work, computational AO could enable the replacement of complicated and expensive optical hardware components with algorithms implemented on a standard desktop computer, making high-resolution 3D interferometric tomography accessible to a wider group of users and nonspecialists.


Assuntos
Processamento de Imagem Assistida por Computador/métodos , Pulmão/anatomia & histologia , Microscopia de Interferência/métodos , Tomografia de Coerência Óptica/métodos , Algoritmos , Animais , Processamento de Imagem Assistida por Computador/instrumentação , Imageamento Tridimensional/instrumentação , Imageamento Tridimensional/métodos , Microscopia de Interferência/instrumentação , Imagens de Fantasmas , Ratos , Reprodutibilidade dos Testes , Tomografia de Coerência Óptica/instrumentação
14.
Am J Hum Genet ; 88(2): 127-37, 2011 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-21255762

RESUMO

By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13.31-q21.1 within the previously reported DFNB42 locus. Subsequent candidate gene sequencing identified a homozygous nonsense mutation (c.1135G>T [p.Glu379X]) in ILDR1 as the cause of hearing impairment. By analyzing additional consanguineous families with homozygosity at this locus, we detected ILDR1 mutations in the affected individuals of 10 more families from Pakistan and Iran. The identified ILDR1 variants include missense, nonsense, frameshift, and splice-site mutations as well as a start codon mutation in the family that originally defined the DFNB42 locus. ILDR1 encodes the evolutionarily conserved immunoglobulin-like domain containing receptor 1, a putative transmembrane receptor of unknown function. In situ hybridization detected expression of Ildr1, the murine ortholog, early in development in the vestibule and in hair cells and supporting cells of the cochlea. Expression in hair cell- and supporting cell-containing neurosensory organs is conserved in the zebrafish, in which the ildr1 ortholog is prominently expressed in the developing ear and neuromasts of the lateral line. These data identify loss-of-function mutations of ILDR1, a gene with a conserved expression pattern pointing to a conserved function in hearing in vertebrates, as underlying nonsyndromic prelingual sensorineural hearing impairment.


Assuntos
Códon sem Sentido/genética , Genes Recessivos/genética , Predisposição Genética para Doença , Perda Auditiva/genética , Receptores de Superfície Celular/genética , Animais , Mapeamento Cromossômico , Cromossomos Humanos Par 3/genética , Consanguinidade , Orelha Interna , Feminino , Ligação Genética , Genótipo , Humanos , Hibridização In Situ , Escore Lod , Masculino , Camundongos , Linhagem , Peixe-Zebra
15.
Opt Express ; 22(16): 19314-26, 2014 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-25321016

RESUMO

Stability is of utmost importance to a wide range of phase-sensitive processing techniques. In Doppler optical coherence tomography and optical coherence elastography, in addition to defocus and aberration correction techniques such as interferometric synthetic aperture microscopy and computational/digital adaptive optics, a precise understanding of the system and sample stability helps to guide the system design and choice of imaging parameters. This article focuses on methods to accurately and quantitatively measure the stability of an imaging configuration in vivo. These methods are capable of partially decoupling axial from transverse motion and are compared against the stability requirements for computed optical interferometric tomography laid out in the first part of this article.


Assuntos
Interferometria/métodos , Tomografia de Coerência Óptica/métodos , Feminino , Humanos , Imagens de Fantasmas , Reprodutibilidade dos Testes
16.
Mol Biol Rep ; 41(2): 1103-7, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24390236

RESUMO

CHEK2 encodes a serine/threonine-protein kinase which plays a critical role in DNA damage signaling pathways. CHEK2 directly phosphorylates and regulates the functions of p53 and BRCA1. Most women with breast and/or ovarian cancer are not carriers of mutant BRCA1 or BRCA2. Multiple studies have shown that a CHEK2*1100delC confers about a two-fold increased risk of breast cancer in unselected females and a tenfold increase in males. Moreover, studies have shown that first-degree relatives of bilateral breast cancer cases who carried the CHEK2*1100delC allele had an eight-fold increased risk of breast cancer. It has been suggested that CHEK2 functions as a low-penetrance susceptibility gene for cancers and multiplies the risks associated with other gene(s) to increase cancer risk. The main goal of this study was to evaluate and to compare the role of truncating mutations, splice junction mutations and rare missense substitutions in breast cancer susceptibility gene CHEK2. Present study was performed on 140 individuals including 70 breast cancer patients both with and without family history and 70 normal individuals. Written consent was obtained and 3 ml intravenous blood was drawn from all the subjects. DNA was extracted from all the samples through inorganic method published already. Primers were synthesized for all the 14 exons of CHEK2 gene. Coding and adjacent intronic sequences of CHEK2 gene were amplified and sequenced. Two genetic variants (p.H371Y, p.D438Y) were found in exon 10 and exon 11 of gene CHEK2 which were not found in any of the 70 control individuals from same geographical area and ethnic group. The genetic variant c.1312G>T (p.D438Y) identified in a patient with a family history of breast cancer. To our knowledge, this is first mutation scanning study of gene CHEK2 from Balochistan population.


Assuntos
Neoplasias da Mama/genética , Quinase do Ponto de Checagem 2/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Neoplasias da Mama/patologia , Feminino , Heterozigoto , Humanos , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Fatores de Risco
17.
Front Surg ; 11: 1307647, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38571559

RESUMO

The differential diagnosis for an axillary mass in a patient with a previously treated malignancy is broad and definitive tissue diagnosis is required to guide treatment and surveillance strategies. We present the case of a 76-year-old African American male with a history of prostate cancer who presented with a left axillary mass two years after achieving remission from his prostate malignancy. Due to the diagnostic challenge, this excisional biopsy was reviewed at four different academic centers. Although no universal consensus among these institutions' pathologists, but in the context of clinical presentation and anatomic location, the overall clinical findings are consistent with apocrine sweat gland carcinoma. The mass was treated with complete local surgical excision, though regional lymph node metastasis occurred 2 years later. Multimodal treatment with surgery and radiation was done with removal of regional metastasis and no distant disease was identified. Primary apocrine carcinoma is a rare cutaneous neoplasm with less than 100 reported cases in the literature. A combination of clinical history and presentation, histomorphology, anatomical location, and immunohistochemistry is used to support the diagnosis and ultimately drive management.

18.
J Burn Care Res ; 45(2): 525-527, 2024 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-38006581

RESUMO

Advancements in technology allow for the utilization of low-voltage battery-powered devices for patients admitted to the hospital. There have been rare cases of burns due to leakage of the internal contents from low-voltage batteries, but to date, there have been no reports of electrical burns caused by low-voltage batteries. We present the case of an 89-year-old female who presented to the general surgery service with a suspected electrical burn from laying on a 9-volt battery. The patient underwent operative debridement with no evidence of a deeper injury. The patient continues to follow up with an outpatient wound clinic and is healing well. This case highlights the importance of teaching and raising awareness of all small devices that may become entangled or lost in patients' linens, such as 9-volt telemetry batteries, to prevent harm.


Assuntos
Queimaduras por Corrente Elétrica , Queimaduras , Feminino , Humanos , Idoso de 80 Anos ou mais , Queimaduras/cirurgia , Queimaduras/etiologia , Queimaduras por Corrente Elétrica/cirurgia , Queimaduras por Corrente Elétrica/complicações , Cicatrização , Hospitalização , Fontes de Energia Elétrica
19.
Cureus ; 16(2): e55251, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38558603

RESUMO

Background In cirrhotic patients with ascites, primary prevention of spontaneous bacterial peritonitis (SBP) is a key strategy to lower morbidity and death. Rifaximin and fluoroquinolone used alternately as main prophylaxis are as effective as reported. This study aimed to compare the frequency of occurrence of SBP in patients with decompensated chronic liver disease treated with rifaximin alone and in combination with fluoroquinolone. Methodology A total of 76 patients with hepatitis C virus-related decompensated chronic liver disease and ascites were divided into two groups based on matching age, sex, and Child-Pugh class. Group A (38 patients) received rifaximin 1,100 mg/day in two divided doses with daily fluoroquinolone 400 mg/day, whereas group B (38 patients) received rifaximin 1,100 mg/day alone as a two dosage. The patients were monitored for up to three months. The study's endpoints were SBP, hepatocellular carcinoma, compliance failure, death, or liver transplantation. Results In this comparative study involving 76 patients, the demographic and clinical characteristics were assessed across two treatment groups: rifaximin alone (n = 38) and rifaximin with fluoroquinolone (n = 38). The combination therapy demonstrated a statistically significant reduction in SBP compared to rifaximin alone. Additionally, the overall survival rate was higher in the combination group. These findings suggest potential benefits of the combined approach in managing hepatic encephalopathy-related complications. Conclusions When compared to rifaximin alone for primary SBP prophylaxis, the combination of rifaximin with fluoroquinolone exhibited greater effectiveness with the same safety profile.

20.
ACS Nano ; 18(14): 10074-10087, 2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38526458

RESUMO

Recent advances in electrocardiogram (ECG) diagnosis and monitoring have triggered a demand for smart and wearable ECG electrodes and readout systems. Here, we report the development of a fully screen-printed gentle-to-skin wet ECG electrode integrated with a scaled-down printed circuit board (PCB) packaged inside a 3D-printed antenna-on-package (AoP). All three components of the wet ECG electrode (i.e., silver nanowire-based conductive part, electrode gel, and adhesive gel) are screen-printed on a flexible plastic substrate and only require 265 times less metal for the conductive part and 176 times less ECG electrode gel than the standard commercial wet ECG electrodes. In addition, our electrically small AoP achieved a maximum read range of 142 m and offers a 4 times larger wireless communication range than the typical commercial chip antenna. The adult volunteers' study results indicated that our system recorded ECG data that correlated well with data from a commercial ECG system and electrodes. Furthermore, in the context of a 12-lead ECG diagnostic system, the fully printed wet ECG electrodes demonstrated a performance similar to that of commercially available wet ECG electrodes while being gentle on the skin. This was confirmed through a blind review method by two cardiology consultants and one family medicine consultant, validating the consistency of the diagnostic information obtained from both electrodes. In conclusion, these findings highlight the potential of fully screen-printed wet ECG electrodes for both monitoring and diagnostic purposes. These electrodes could serve as potential candidates for clinical practice, and the screen-printing method has the capability to facilitate industrial mass production.


Assuntos
Nanofios , Adulto , Humanos , Prata , Eletrocardiografia , Coração , Eletrodos
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