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PURPOSE: This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program. METHODS: Extensive analyses of 960 families with suspected genetic disorders included short-read exome sequencing and short-read genome sequencing (srGS); PacBio HiFi long-read genome sequencing (HiFi-GS); variant calling for single nucleotide variants (SNV), structural variant (SV), and repeat variants; and machine-learning variant prioritization. Structured phenotypes, prioritized variants, and pedigrees were stored in PhenoTips database, with data sharing through controlled access the database of Genotypes and Phenotypes. RESULTS: Diagnostic rates ranged from 11% in patients with prior negative genetic testing to 34.5% in naive patients. Incorporating SVs from genome sequencing added up to 13% of new diagnoses in previously unsolved cases. HiFi-GS yielded increased discovery rate with >4-fold more rare coding SVs compared with srGS. Variants and genes of unknown significance remain the most common finding (58% of nondiagnostic cases). CONCLUSION: Computational prioritization is efficient for diagnostic SNVs. Thorough identification of non-SNVs remains challenging and is partly mitigated using HiFi-GS sequencing. Importantly, community research is supported by sharing real-time data to accelerate gene validation and by providing HiFi variant (SNV/SV) resources from >1000 human alleles to facilitate implementation of new sequencing platforms for rare disease diagnoses.
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Genómica , Enfermedades Raras , Niño , Genoma , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Linaje , Enfermedades Raras/diagnóstico , Enfermedades Raras/genética , Análisis de Secuencia de ADNRESUMEN
Strategic control of evaporation dynamics can help control oscillation modes and internal flow field in an oscillating sessile droplet. This article presents the study of an oscillating droplet on a bio-inspired "sticky" surface to better understand the nexus between the modes of evaporation and oscillation. Oscillation in droplets can be characterized by the number of nodes forming on the surface and is referred to as the mode of oscillation. An evaporating sessile droplet under constant periodic perturbation naturally self-tunes between different oscillation modes depending on its geometry. The droplet geometry evolves according to the mode of evaporation controlled by substrate topography. We use a bio-inspired, rose patterned, "sticky" hydrophobic substrate to perpetually pin the contact line of the droplet in order to hence achieve a single mode of evaporation for most of the droplet's lifetime. This allows the prediction of experimentally observed oscillation mode transitions at different excitation frequencies. We present simple scaling arguments to predict the velocity of the internal flow induced by the oscillation. The findings are beneficial to applications which seek to tailor energy and mass transfer rates across liquid droplets by using bio-inspired surfaces.
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Evaporating sessile functional droplets act as the fundamental building block that controls the cumulative outcome of many industrial and biological applications such as surface patterning, 3D printing, photonic crystals, and DNA sequencing, to name a few. Additionally, a drying single sessile droplet forms a high-throughput processing technique using low material volume which is especially suitable for medical diagnosis. A sessile droplet also provides an elementary platform to study and analyze fundamental interfacial processes at various length scales ranging from macroscopically observable wetting and evaporation to microfluidic transport to interparticle forces operating at a nanometric length scale. As an example, to ascertain the quality of 3D printing we must understand the fundamental interfacial processes at the droplet scale. In this article, we review the coupled physics of evaporation flow-contact-line-driven particle transport in sessile colloidal droplets and provide methodologies to control the same. Through natural alterations in droplet vaporization, one can change the evaporative pattern and contact line dynamics leading to internal flow which will modulate the final particle assembly in a nontrivial fashion. We further show that control over particle transport can also be exerted by external stimuli which can be thermal, mechanical oscillations, vapor confinement (walled or a fellow droplet), or chemical (surfactant-induced) in nature. For example, significant augmentation of an otherwise evaporation-driven particle transport in sessile droplets can be brought about simply through controlled interfacial oscillations. The ability to control the final morphologies by manipulating the governing interfacial mechanisms in the precursor stages of droplet drying makes it perfectly suitable for fabrication-, mixing-, and diagnostic-based applications.
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Evaporation of sessile droplets has been a topic of extensive research. However, the effect of confinement on the underlying dynamics has not been well explored. Here, we report the evaporation dynamics of a sessile droplet in a confined fluidic environment. Our findings reveal that an increase in the channel length delays the completion of the evaporation process and leads to unique spatio-temporal evaporation flux and internal flow. The evaporation modes (constant contact angle and constant contact radius) during the droplet lifetime however exhibit global similarity when normalized by appropriate length and timescales. These results are explained in light of an increase in vapor concentration inside the channel due to greater accumulation of water vapor on account of increased channel length. We have formulated a theoretical framework which introduces two key parameters namely an enhanced concentration of the vapor field in the vicinity of the confined droplet and a corresponding accumulation lengthscale over which the accumulated vapor relaxes to the ambient concentration. Using these two parameters and modified diffusion based evaporation we are able to show that confined droplets exhibit a universal behavior in terms of the temporal evolution of each evaporation mode irrespective of the channel length. These results may turn out to be of profound importance in a wide variety of applications, ranging from surface patterning to microfluidic technology.
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OBJECTIVE: We observed several children with medically resistant epilepsy demonstrating focal positron emission tomography (PET) hypermetabolism, a finding rarely reported and of questionable significance. We therefore retrospectively reviewed the incidence of hypermetabolic PET, and its relationship to electroencephalography (EEG) and magnetic resonance imaging (MRI) findings, and to the outcome of epilepsy surgery. METHODS: We retrospectively reviewed 498 PET brain studies in patients with medically resistant childhood epilepsy for evidence of hypermetabolism. In patients with PET hypermetabolism, we correlated metabolic abnormality with the scalp EEG and MRI findings. In a subset of patients who underwent surgical resection, we further correlated the PET findings with histopathologic and surgical outcomes. RESULTS: Focal PET hypermetabolism was identified in 33 (6.6%) of 498 studies. The region of hypermetabolism correlated with a spike count of ≥10 per minute in 26 of 32 concomitant scalp EEG studies and 18 of 21 lesions evident on MRI. In 17 patients who underwent surgical resection, PET hypermetabolism further correlated with regions revealing almost continuous epileptiform discharges on the intracranial EEG and with histopathologically malformative tissue. At a minimum follow-up of 1 year postsurgery (median 33 months), 7 (50%) of 14 patients had Engel's class I outcome, 4 patients had class II, and 2 had class III outcome, whereas one patient was unchanged. At last follow-up, seizure freedom was noted in five of seven patients with focal PET hypermetabolism alone versus three of eight patients with PET hypometabolism. SIGNIFICANCE: Focal PET hypermetabolism is associated with high spike frequency on scalp EEG and can occur in the absence of ictal events during the peri-injection period. Correlation with intracranial EEG usually corroborates the highly epileptogenic pathophysiologic state. Cortical malformations constitute the most common pathologic substrate, and resection of the hypermetabolic PET region may facilitate favorable outcomes. These observations indicate that focal PET hypermetabolism is an important marker of the epileptogenic zone and may represent its epicenter.
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Epilepsia Refractaria/diagnóstico por imagen , Epilepsia Refractaria/metabolismo , Tomografía de Emisión de Positrones/métodos , Adolescente , Niño , Preescolar , Estudios de Cohortes , Epilepsia Refractaria/epidemiología , Epilepsia Refractaria/cirugía , Electroencefalografía/métodos , Humanos , Incidencia , Lactante , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
Particle-laden droplet-based systems ranging from micro- to nanoscale have become increasingly popular in applications such as inkjet printing, pharmaceutics, nanoelectronics, and surface patterning. All such applications involve multidroplet arrays in which vapor-mediated interactions can significantly affect the evaporation dynamics and morphological topology of precipitates. A fundamental study was conducted on nanocolloidal paired droplets (droplets kept adjacent to each other as in an array) to understand the physics related to the evaporation dynamics, internal flow pattern, particle transport, and nanoparticle self-assembly, primarily using optical diagnostic techniques [such as micro-particle image velocimetry (µPIV)]. Paired droplets exhibit contact angle asymmetry, inhomogeneous contact line slip, and unique single-toroid microscale flow, which are unobserved in single droplets. Furthermore, nanoparticles self-assemble (at the nanoscale) to form a unique variable-thickness (microscale) tilted dome-shaped structure that eventually ruptures at an angle because of evaporation at a nanopore scale to form cavities (miniscale). The geometry and morphology of the dome can be further fine-tuned at a macro- to microscale by varying the initial particle concentration and substrate properties. This concept has been extended to a linear array of droplets to showcase how to custom design two-dimensional drop arrangements to create controlled surface patterns at multiple length scales.
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The evaporation of a nanocolloidal sessile droplet exhibits preferential particle assembly, nanoporous shell formation and buckling to form cavities with unique morphological features. Here, we have established many universal trends that explain the buckling dynamics under one umbrella irrespective of hydrophobicity, evaporation mode and particle loading. We provide a regime map explaining the droplet morphology and buckling characteristics for droplet evaporation on various substrates. Specifically, we find that the final droplet volume and the radius of curvature at the buckling onset are universal functions of particle concentration. Furthermore, we establish that post-buckling cavity growth is evaporation driven regardless of the substrate.
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We demonstrate a seven-core erbium-doped fiber amplifier in which all the cores were pumped simultaneously by a side-coupled tapered multimode fiber. The amplifier has multicore (MC) MC inputs and MC outputs, which can be readily spliced to MC transmission fiber for amplifying space division multiplexed signals. Gain over 25 dB was obtained in each of the cores over a 40-nm bandwidth covering the C-band.
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BACKGROUND: Significant knowledge gap exists on vagus nerve stimulation (VNS) efficacy and tolerability in medically refractory absence seizures (MRAS). This retrospective review of patients with MRAS aims to narrow this knowledge gap by comparing ultra rapid duty cycling ([URDC] ON time seven seconds, OFF time 0.2 minutes) with less frequent stimulations of rapid duty cycling (RDC, OFF time <1.1 minutes) and normal duty cycling (NDC, OFF time ≥1.1 minutes). METHODS: Patients with MRAS aged less than 21 years who underwent VNS implantation were identified. Patient demographics, antiepileptic medications, seizure types, frequency, VNS parameters, outcomes of seizure reduction rate (SRR), and seizure freedom were extracted and compared among NDC, RDC, and URDC patient cohorts. RESULTS: Thirty-six patients with MRAS were identified. After a mean follow-up of 32.6 months, responder rate ([RR], SRR ≥50%) for URDC was 80% for absence seizures and 80% for all seizure types versus 66.67% and 66.77% for NDC and 78.57% and 57.14% for RDC, respectively. Six of 10 patients (60%) on URDC achieved complete seizure freedom. A higher rate of subjective improvement in academic performance, attention, and developmental gain was noted in the URDC group. Patients on URDC tolerated higher output current (mean 3.025 mA) with minimal side effects but required a battery change sooner. CONCLUSIONS: VNS is a safe and effective nonpharmacologic management choice in patients with MRAS. The data presented demonstrate that the combination of URDC and high output current provides better RR and seizure freedom. Apart from a reduced battery life, this parameter modality seems to be well-tolerated.
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Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Epilepsia Tipo Ausencia , Estimulación del Nervio Vago , Humanos , Estimulación del Nervio Vago/efectos adversos , Convulsiones/terapia , AnticonvulsivantesRESUMEN
Solid-pseudopapillary neoplasm (SPN) is a variety of solid and cystic tumors of the pancreas. It was first described by Frantz in 1959. It is an unusual form of pancreatic carcinoma, with unknown etiopathogenesis, which accounts for about 0.17 to 2.7% of all pancreatic tumors. Here, we are describing 5 cases of pancreatic solid pseudopapillary neoplasm, out of 180 pancreatic tumors, operated in our institution in the 5-year period (2015-2020). Also, we have reviewed all available case series (from 2006 to 2020) in the literature, of pancreatic pseudopapillary neoplasm, for demographic information, etiopathogenesis, diagnosis, and extent of operation to establish the optimal management of this condition. Retrospective analysis of pancreatic tumors was carried out from February 2015 to January 2020. A total of 180 patients underwent pancreatic resection in this period for pancreatic tumor, out of which, the solid pseudopapillary neoplasm was confirmed in 5 cases (2.76%). Among these 5 cases, 4 cases (80%) were female and one (20%) male, with age group range from 14 to 45 years (mean age - 28 years). Abdominal pain was the most frequent presenting symptom (60%). Mean tumor diameter was 6.9 cm (range, 2-18 cm). Two patients were diagnosed preoperatively by CECT and MRI findings, and three patients were diagnosed preoperatively by percutaneous/USG-guided and CT-guided FNA cytology. Two patients underwent pancreatoduodenectomy; one patient underwent enucleation; and two patients underwent spleen preserving distal pancreatectomy. Four patients are alive and on regular follow-up, while one patient died on the 5th post-operative day due to post-operative sepsis.
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Rectal tuberculosis is an uncommon entity. It has unique epidemiological features, specific medical treatment and surgery is rarely indicated. The first case of rectal tuberculosis was reported in 1957. Delayed diagnosis is common. Patients who develop rectal tuberculosis have been reported to have some risk factors or associated comorbid conditions or pathologies with some form of abnormal host-defence mechanism such as acquired immunodeficiency syndrome, complement deficiency. Rectal tuberculosis has been reported to be more common in females as compared to males. Haematochezia is the most common presenting symptom. The definite diagnosis requires demonstration of Mycobacterium tuberculosis bacillus on histopathologic examination. Once a correct diagnosis has been made, rectal tuberculosis is curable with antituberculous treatment. Surgery is indicated for diagnostic dilemmas, non-responsive disease and complications. The authors encountered 3 cases in the last 10 years. The aim of this study is to provide our data on this rare disease and to review the reported literature comprehensively so as to provide guidelines for diagnosis and management.
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Síndrome de Inmunodeficiencia Adquirida , Mycobacterium tuberculosis , Tuberculosis Ganglionar , Femenino , Humanos , MasculinoRESUMEN
Addison's disease was first described by Thomas Addison in 1855. He demonstrated the destruction of bilateral adrenal gland by tuberculosis (TB) in six patients. Since then, the incidence of TB has declined in the Western world, but in developing countries, it is still the most common cause of adrenal insufficiency. Because of the introduction of antituberculous chemotherapy, the incidence of adrenal TB has been declined in the past decades. The most common symptoms are nonspecific; therefore, diagnosis is often delayed, and patients may first present with a life-threatening adrenal crisis. The most commonly identified organism for adrenal failure in adrenal TB is Mycobacterium tuberculosis infection. Adrenal TB involves bilateral adrenal glands more frequently than unilateral glands. Computed tomography (CT) scan and magnetic resonance imaging (MRI) are useful investigations to differentiate between tuberculous Addison's disease and the other causes of adrenal insufficiency. In CT scans or MRI, features of adrenal TB are bilateral adrenal enlargement and peripheral rim enhancement with or without calcifications. Antituberculous drugs, biochemical monitoring of adrenal function, and steroid therapy are essential for the management of adrenal TB and adrenal insufficiency. Here, we describe a case of adrenal TB with abscess formation followed by a review of the current literature of adrenal TB for better diagnosis and management of this condition.
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OBJECTIVE: This review article focuses on clinical and genetic features of paroxysmal neurological disorders featuring episodic ataxia (EA) and epilepsy and help clinicians recognize, diagnose, and treat patients with co-existing EA and epilepsy. It also provides an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders. METHODS: Based on a literature review on Pubmed database, a list of genes linked to paroxysmal neurological disorders featuring EA and epilepsy were compiled. Online Mendelian Inheritance in Man (OMIM) was used to identify further reports relevant to each gene. RESULTS: Among the various forms of EAs, only EA1 (KCNA1), EA2 (CACNA1A), EA5 (CACNB4), EA6 (SLC1A3), and EA9 (SCN2A) phenotypes with associated epilepsy have been described. Next-generation sequencing (NGS) has helped in the identification of other genes (e.g.: KCNA2, ATP1A3, SLC2A1, PRRT2) which have shown an overlapping phenotype with EA and epilepsy. CONCLUSION: Overlapping clinical features between EA and epilepsy may hinder an accurate classification, and complex genotype-phenotype correlation may often lead to misdiagnosis. NGS has increased the awareness of common genetic etiologies for these conditions. In the future, extensive genetic and phenotypic characterizations can help us to elucidate the boundaries of a wide phenotypic spectrum. These insights may help develop new precision therapies in paroxysmal neurological disorders featuring EA and epilepsy.
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Ataxia , Epilepsia , Ataxia/genética , Epilepsia/genética , Estudios de Asociación Genética , Humanos , Mutación , Fenotipo , ATPasa Intercambiadora de Sodio-Potasio/genéticaRESUMEN
Thyroid tuberculosis is a rare disease. Its incidence is low even in countries where prevalence of pulmonary tuberculosis is high (0.1-0.4%). In literature, there are only a few cases which were diagnosed as thyroid tuberculosis. It can be explained by a high resistance of the thyroid gland to infectious processes. However, the prevalence of tuberculosis has increased worldwide and thyroid involvement can be a primary manifestation of the disease. The incidence of extrapulmonary tuberculosis has been showing a progressive increase in the recent years(Barnes and Weatherstone, 1979). The most frequent clinical presentation is a solitary thyroid nodule that may present as a cystic nodule. It may also present as thyroid abscess with pain, fever and other non-specific signs and symptoms. ATT results in complete cure therefore it is important to differentiate it from other form of thyroiditis. Patients are usually euthyroid, but cases of hypothyroidism and hyperthyroidism are described. For accurate diagnosis of thyroid tuberculosis, clinical and radiological features are nonspecific and histological examination is required for confirmation of diagnosis. PCR may help in diagnosis. The authors encounter 3 cases of thyroid tuberculosis in last 5 year which are described in this article. The aim of this study is to review all the cases published in literature to describe clinical presentation, appropriate diagnostic method and possible treatment options of the disease.
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Glándula Tiroides , Tuberculosis/diagnóstico , Humanos , Tiroidectomía , Tuberculosis/cirugíaRESUMEN
PURPOSE: Trauma is the leading cause of mortality in people below the age of 45 years. Abdominal trauma constitutes one-fourth of the trauma burden. Scoring systems in trauma are necessary for grading the severity of the injury and prior mobilization of resources in anticipation. The aim of this study was to evaluate RTS, ISS, CASS and TRISS scoring systems in blunt trauma abdomen. MATERIALS AND METHODS: A prospective single-center study was conducted on 43 patients of blunt trauma abdomen. Revised trauma score (RTS), Injury Severity Score (ISS), Clinical Abdominal Scoring System (CASS) and Trauma and Injury Severity Score (TRISS) were calculated and compared with the outcomes such as need for surgical intervention, post-operative complications and mortality. RESULTS: The majority of the study subjects were males (83.7%). The most common etiology for blunt trauma abdomen as per this study was road traffic accident (72.1%). Spleen was the most commonly injured organ as per the study. CASS and TRISS were significant in predicting the need for operative intervention. Only ISS significantly predicted post-operative complications. All scores except CASS significantly predicted mortality. CONCLUSIONS: Among the scoring systems studied CASS and TRISS predicted the need for operative intervention with good accuracy. For the prediction of post-operative complications, only the ISS score showed statistical significance. ISS, RTS and TRISS predicted mortality with good accuracy but the superiority of one score over the other couldn't be proved.
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Heridas no Penetrantes , Abdomen , Femenino , Humanos , Puntaje de Gravedad del Traumatismo , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Prospectivos , Índices de Gravedad del Trauma , Heridas no Penetrantes/cirugíaRESUMEN
OBJECTIVE: The aim of this study was to compare the post-operative effects of closed incision negative pressure wound therapy with conventional dressing in emergency laparotomy. METHODS: This study was conducted from 1st November 2018 to 31st March 2020 in ABVIMS & Dr. R.M.L. Hospital, New Delhi. The potential candidates for the study were patients of 18 years and above who were admitted in surgical emergency and underwent emergency laparotomy by a midline incision. Fifty random patients were alternatively allotted to group A (25 patients) and group B (25 patients). In the patients of group A, closed incision negative pressure wound therapy (ciNPWT) was applied on midline closed wound after an exploratory laparotomy procedure. The patients in group B, standard dry gauze dressing was done. RESULTS: The mean age of patients in group A and group B were 46.76±12.20 and 41.96±8.33 years, respectively (p-value-0.11). The wound infection was present in 12% of cases in group A and 32% in group B, but when we calculate the p-value, it was found to be statistically non-significant (p-value-0.08). Similarly, seroma formation and wound dehiscence were found less in group A as compared to group B but not reached up to a statistically significant limit (p-value 0.55 and 0.38 respectively). The frequency of dressing change was 1-2 per week in 92% of cases in group A while it was 3-4 per week in 68% of cases in group B. The mean time of the frequency of dressing change was 1.24±0.72 per week and 4.28±1.90 per week in both the groups respectively (p-value <0.001). There was no significant (p>0.05) difference in the duration of hospital stay between group A (mean hospital stay 8.20±2.34 days) and group B (mean hospital stay 8.21±3.37 days). CONCLUSION: Closed incision negative pressure wound therapy has no advantages over conventional dressing in terms of post-operative complications and hospital stay. However, it reduces the frequency of dressing change significantly, which reduces the mental stress of the patient and the burden of changing daily dressing.
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Terapia de Presión Negativa para Heridas , Adulto , Vendajes , Humanos , Laparotomía , Persona de Mediana Edad , Dehiscencia de la Herida Operatoria , Infección de la Herida Quirúrgica/prevención & controlRESUMEN
OBJECTIVES: To analyze the efficacy and safety of Brivaracetam in pediatric patients with epileptic encephalopathy or unresponsive focal epilepsy. MATERIALS & METHODS: This retrospective study included eight pediatric patients with EE or unresponsive focal epilepsy. Inclusion criteria: (1) ≤14 years, (2) history of refractory epilepsy, (3) at least one month of continuous therapy with BRV, and (4) at least six months of follow-up. Exclusion criteria: (1) variation of concomitant antiepileptic drugs during the previous and/or subsequent four weeks of the BRV introduction, (2) levetiracetam in therapy, (3) epilepsy secondary to the progressive cerebral disease, tumor, or any other progressive neurodegenerative diseases, and (4) a status epilepticus a month before screening or during the baseline period. The efficacy of BRV was defined as ≥50% of seizure frequency reduction at the end of the follow-up, compared to baseline. RESULTS: All patients showed ≥50% seizure frequency reduction, of whom 37.5% were seizure-free, 25% had a frequency reduction of ≥75%, and 37.5% had frequency reduction of ≥ 50%. All patients with an epilepsy onset >12 months and epilepsy duration of ≤6 years were seizure-free. The maximum effect was achieved at 2 mg/kg/day, and focal seizures revealed a better response than epileptic encephalopathy. A remarkably positive effect of the Brivaracetam was noticed in patients with encephalopathy regarding the status epilepticus during sleep; however, no relevant side-effects were noted. CONCLUSION: Brivaracetam was an effective and well-tolerated treatment in pediatric patients with epileptic encephalopathy or unresponsive focal epilepsy, especially for the epilepsy onset >12 months and the epilepsy duration ≤6 years. The total effect was not dose-dependent. Brivaracetam could represent an indication of encephalopathy regarding the status epilepticus during sleep.
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<b>Introduction:</b> Blunt trauma chest contributes to significant number of trauma admissions globally and is a cause of major morbidity and mortality. Many scoring systems and risk factors have been defined in past for prognosticating blunt trauma chest but, none is considered to be gold standard. </br> <b>Aim:</b> This study was conducted to reassess the significance of available scoring systems and others indicators of severity in prognosticating blunt trauma chest patients. </br> <b>Materials and Methods:</b> In this prospective observational study from November 2016 till March 2018, 50 patients with age more than 12 years with blunt chest trauma who required hospitalization were included. Nine risk factors were assessed namely- age of the patient, duration of presentation after trauma, number of ribs fractured, bilateral thoracic injury, evidence of lung contusion, associated extra thoracic injury, need for mechanical ventilation, Revised trauma Score (RTS) and Modified Early Warning Sign Score (MEWS). Severity of blunt thoracic trauma was assessed on following outcomes-SIRS, ARDS and Death. The inferences were drawn with the use of statistical software package SPSS v22.0. </br> <b>Results:</b> The age of 50 patients included in our study with a range of 15 to 76 years, the median age was 35.5 years. Statistically significant association was observed between occurrence of SIRS and multiple ribs fractured (p-value- 0.049), associated extra-thoracic injury (p-value-0.016) and higher MEWS score (p-value-0.025). ARDS occurrence was statistically significantly associated with all the risk factors except age.Death occurred more in patients with delayed duration of presentation to hospital (p-value <0.001), multiple ribs fractured (p-value-0.001), bilateral thoracic injury(p-value<0.001), associated extra-thoracic injury (p-value-0.004), patients who required ventilatory support (p-value<0.001), low RTS (p-value-0.006) and high MEWS (p-value-0.005) on admission. This association was found statistically significant. </br> <b>Conclusion:</b> High MEWS, associated extra-thoracic injuries and multiple rib fractured can very well predict poor outcome in terms of SIRS, ARDS and death. Aggressive treatment protocols should be established for better outcome in these patients with blunt trauma chest.
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Lesión Pulmonar , Traumatismos Torácicos , Heridas no Penetrantes , Adolescente , Adulto , Anciano , Niño , Humanos , Puntaje de Gravedad del Traumatismo , Lesión Pulmonar/complicaciones , Persona de Mediana Edad , Estudios Prospectivos , Estudios Retrospectivos , Factores de Riesgo , Traumatismos Torácicos/complicaciones , Traumatismos Torácicos/epidemiología , Heridas no Penetrantes/complicaciones , Heridas no Penetrantes/diagnóstico , Adulto JovenRESUMEN
PURPOSE: Vagus nerve stimulation (VNS) is an effective adjunctive therapy for drug-resistant epilepsy. Nevertheless, information is lacking regarding optimization of stimulation parameters to improve efficacy. Our study examines the safety and efficacy of rapid duty cycle VNS (OFF time ≤1.1 minute keeping duty cycle less than 50%) in pediatric cohort with intractable epilepsy. METHODS: Retrospective chart review of 50 patients (one to 17 years) with drug-resistant epilepsy treated with VNS between 2010 and 2015 at a single pediatric epilepsy center. Safety and tolerability data were aggregated across all patient visits to determine frequency of adverse events between differing duty cycles. We also compared seizure reduction rates for each patient at (1) last regular duty cycle visit, (2) first rapid duty cycle visit, and (3) last recorded rapid duty cycle visit. RESULTS: Rapid duty cycle was well tolerated, with no adverse events reported in 96.6% patient encounters. At the last visit before switching to rapid duty cycle 45.5% patients were showing response to VNS (seizure reduction rates ≥50%). This rate increased to 77.3% after switching to rapid duty cycle and remained at 77.4% at the last rapid duty cycle visit. Fifteen patients (34.1%) became responders to VNS after switching to rapid cycling; another 19 (43.2%) maintained their response with mostly improved seizure reduction rates. In only a few instances, responders became nonresponders after switching to rapid duty cycle. CONCLUSIONS: Rapid duty cycle VNS is probably safe and well tolerated; it may also be more efficacious than regular cycling VNS in some patients. This study highlights the necessity of prospective, long-term, double-blinded studies for understanding the advantages of this VNS modality.