RESUMEN
OBJECTIVE: The primary objective was to analyze the impact of the national cyberattack in May 2021 on patient flow and data quality in the Paediatric Emergency Department (ED), amid the SARS-CoV-2 (COVID-19) pandemic. METHODS: A single site retrospective time series analysis was conducted of three 6-week periods: before, during, and after the cyberattack outage. Initial emergent workflows are described. Analysis includes diagnoses, demographic context, key performance indicators, and the gradual return of information technology capability on ED performance. Data quality was compared using 10 data quality dimensions. RESULTS: Patient visits totaled 13 390. During the system outage, patient experience times decreased significantly, from a median of 188 minutes (pre-cyberattack) down to 166 minutes, most notable for the period from registration to triage, and from clinician review to discharge (excluding admitted patients). Following system restoration, most timings increased. Data quality was significantly impacted, with data imperfections noted in 19.7% of data recorded during the system outage compared to 4.7% before and 5.1% after. CONCLUSIONS: There was a reduction in patient experience time, but data quality suffered greatly. A hospital's major emergency plan should include provisions for digital disasters that address essential data requirements and quality as well as maintaining patient flow.
Asunto(s)
COVID-19 , Seguridad Computacional , Desastres , Medicina de Urgencia Pediátrica , Niño , Humanos , COVID-19/epidemiología , Servicio de Urgencia en Hospital , Pandemias , Estudios Retrospectivos , SARS-CoV-2 , IrlandaRESUMEN
C282Y homozygotes exposed to sustained elevated transferrin saturation (TS) may develop worsening clinical symptoms. This might be related to the appearance of non-transferrin bound iron (NTBI) when TS≥50% and labile plasma iron (LPI) when TS levels reach 75-80%. In this study, NTBI levels were examined in 219 randomly selected untreated and treated C282Y homozygotes. Overall, 161 of 219 had TS ≥ 50%, 124 of whom had detectable NTBI (≥0.47 µM, 1.81 µM [0.92-2.46 µM]) with a median serum ferritin 320 µg/L (226-442 µg/L). Ninety of 219 homozygotes had TS ≥ 75%, and all had detectable NTBI (2.21 µM [1.53-2.59 µM] with a median ferritin 338 µg/L [230-447 µg/L]). Of 125 homozygotes who last had phlebotomy ≥12 months ago (42 months [25-74 months], 92 had TS levels ≥ 50%, and 70 of these had NTBI ≥ 0.47 µM (2.06 µM [1.23-2.61µM]). Twenty-six of these 70 had a normal ferritin. Fifty-five of 125 had TS ≥ 75%, and NTBI was detected in all of these (2.32 µM [1.57-2.77 µM]) with a median ferritin 344 µg/L (255-418 µg/L). Eighteen of these 55 had a normal ferritin. In summary, NTBI is frequently found in C282Y homozygotes with TS ≥ 50%. Furthermore, C282Y homozygotes in the maintenance phase often have TS ≥ 50% together with a normal ferritin. Therefore, monitoring the TS level during the maintenance phase is recommended as an accessible clinical marker of the presence of NTBI.
RESUMEN
AIMS: Self-management for people with epilepsy and a history of negative health events (SMART) is a behavioral intervention that has been demonstrated to reduce epilepsy-related complications and improve physical and mental health functioning among people with epilepsy (PWE) [1]. The Community-SMART (C-SMART) initiative was a 4-month prospective implementation of feasibility and pre/post outcomes of SMART in a community setting and in collaboration with key epilepsy service stakeholders. METHODS: Self-management for people with epilepsy and a history of negative health events is a group-format, entirely virtual intervention delivered in eight 60-90 sessions over the course of 8-10â¯weeks. The C-SMART initiative used research staff to guide intervention performance evaluation and staff of a regional epilepsy advocacy agency to assist with community engagement. Process evaluations included outreach and engagement efforts needed to reach PWE, the barriers and facilitators to roll-out, and participant retention and satisfaction. Outcomes included depressive symptoms and epilepsy self-management competency. RESULTS: Thirty individuals were enrolled in 3 "cohorts" of approximately 10 PWE per cohort. Mean age of participants was 48.50 (standard deviation 16.15) years, 60% were female and 53.3% were African-American. Individuals had epilepsy, on average, for over 2 decades, were on approximately 2 prescribed antiepileptic drugs (AEDs) and had an average of just over 6 seizures in the last 30â¯days. Over 63% had a comorbid mental health condition. There were 23 individuals (76.7%) who were retained at the 4-month follow-up. Baseline to 4-month outcomes for depression and epilepsy self-management were significantly improved. Most (90%) of participants reported high levels of satisfaction with the program. CONCLUSIONS: The SMART epilepsy self-management program can be successfully implemented in partnership with epilepsy-focused community partners, is acceptable to participants and associated with improved outcomes. Future work might consider how to make virtual epilepsy self-management available to the full spectrum of PWE.
Asunto(s)
Epilepsia , Automanejo , Adolescente , Anticonvulsivantes , Epilepsia/psicología , Femenino , Humanos , Estudios Prospectivos , Calidad de Vida/psicología , Automanejo/psicologíaRESUMEN
BACKGROUND AND PURPOSE: Microthrombosis could play a role in delayed cerebral ischemia after aneurysmal subarachnoid hemorrhage. Tirofiban has shown promising results in reducing delayed cerebral ischemia in retrospective studies. However, the safety of using tirofiban in aneurysmal subarachnoid hemorrhage is not rigorously established. METHODS: A phase 1/2a double-blinded randomized controlled trial (2:1 randomization) to assess the safety of a 7-day intravenous infusion of tirofiban compared with placebo, in patients with aneurysmal subarachnoid hemorrhage treated with ventriculostomy placed in the operative room and coiling was conducted. The primary end point was any intracranial hemorrhage during the hospital stay. The secondary end points were: incidence of radiographic and clinical vasospasm, incidence of delayed cerebral ischemia, and incidence of cerebral ischemic changes noted on magnetic resonance imaging or computed tomography. RESULTS: Eighteen patients received intravenous tirofiban and 12 received placebo. There was no difference in baseline characteristics except for higher male proportions in the tirofiban group. There was no difference in death, in development of new or change in existing intracranial hemorrhages, in thrombocytopenia, and need for shunts in the two arms. However, the tirofiban arm had a lower incidence of delayed cerebral ischemia compared with placebo (6% [1/18] versus 33% [4/12]; P=0.04), and less radiographic vasospasm as detected by catheter angiogram or computed tomography angiography (P=0.01) and computed tomography perfusion (P=0.01). CONCLUSIONS: The above preliminary results support proceeding with further testing of the safety and efficacy of 7-day intravenous infusion of tirofiban in a pragmatic (placing external ventricular drain by the bedside), multicenter setting, and using a larger population. Registration: URL: https://www.clinicaltrials.gov; Unique identifier: NCT03691727.
Asunto(s)
Isquemia Encefálica/prevención & control , Fibrinolíticos/uso terapéutico , Hemorragia Subaracnoidea/complicaciones , Tirofibán/uso terapéutico , Adulto , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/etiología , Método Doble Ciego , Humanos , Masculino , Persona de Mediana Edad , Resultado del Tratamiento , Vasoespasmo Intracraneal/etiología , Vasoespasmo Intracraneal/prevención & controlRESUMEN
BACKGROUND: Cirrhosis develops in <10% of individuals homozygous for the C282Y variant in the homeostatic iron regulator (HFE) gene. Carriage of PCSK7:rs236918 is associated with an increased risk of cirrhosis in this population. AIM: To determine if genetic variants significantly associated with the risk of alcohol- and NAFLD-related cirrhosis also modulate the cirrhosis risk in C282Y homozygotes. METHODS: Variants in PCSK7, PNPLA3, TM6SF2, MBOAT7 and HSD17B13 were genotyped in 1319 C282Y homozygotes, from six European countries, of whom 171 (13.0%) had cirrhosis. Genotypic and allelic associations with the risk for developing cirrhosis were assessed, adjusting for age and sex. Fixed effects meta-analyses of the adjusted summary data for each country were performed. Post hoc association testing was undertaken in the 131 (76.6%) cases and 299 (26.0%) controls with available liver histology. RESULTS: Significant associations were observed between PCSK7:rs236918 (OR = 1.52 [95% CI 1.06-2.19]; P = 0.022; I2 = 0%); PNPLA3:rs738409 (OR = 1.60 [95% CI 1.22-2.11]; P = 7.37 × 10-4 ; I2 = 45.5%) and TM6SF2:rs58542926 (OR = 1.94 [95% CI 1.28-2.95]; P = 1.86 × 10-3 ; I2 = 0%) and the cirrhosis risk in C282Y homozygotes. These findings remained significant in the subpopulation with available liver histology. The population-attributable fractions were 5.6% for PCSK7:rs236918, 13.8% for PNPLA3:rs738409, 6.5% for TM6SF2:rs58542926 and 24.0% for carriage of all three variants combined. CONCLUSIONS: The risk of cirrhosis associated with carriage of PCSK7:rs236918 was confirmed in this much larger population of C282Y homozygotes. In addition, PNPLA3:rs738409 and TM6SF2:rs58542926 were established as significant additional risk factors. More detailed genetic testing of C282Y homozygotes would allow risk stratification and help guide future management.
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Hemocromatosis , Enfermedad del Hígado Graso no Alcohólico , Europa (Continente) , Genotipo , Humanos , Lipasa/genética , Cirrosis Hepática/etiología , Cirrosis Hepática/genética , Proteínas de la Membrana/genética , Polimorfismo de Nucleótido Simple , Factores de Riesgo , SubtilisinasRESUMEN
OBJECTIVE: Vertebral hemangiomas (VH) are common benign lesions involving the spine. Owing to the multiplicity of treatments, the management of VH has not always been consistent. In this retrospective review of a single center experience, indications and options available for the treatment of VH are outlined. PATIENTS AND METHODS: This is a retrospective review of 71 cases of VH managed at our institution between 2005 and 2019. Sixty of these cases were managed non-operatively, with 11 cases undergoing operative intervention. Of the 11 cases that underwent surgery, there were 2 cervical cases and 9 in the thoracic spine. Ten cases were symptomatic, and 1 incidental. Three patients presented with localized pain, and the remaining 7 had neurological deficit. Decompression with maximal resection of the hemangioma was undertaken in 10 cases, and vertebroplasty in 1. RESULTS: Of the 60 patients who were managed non-operatively, 13 patients had presented with back/neck pain, with the remaining 47 patients being asymptomatic and diagnosed incidentally. Among the 13 symptomatic patients, all were offered surgical intervention for pain management, but given lack of severity of symptoms, all had opted for conservative approaches of pain control. In the 11 patients who underwent surgery, the preoperative diagnosis of VH was accurate in all but 1 case. There were 2 cervical cases treated with corpectomy. One patient was treated with vertebroplasty, and the remaining 8 with decompression. Radiation was used in 2 cases. Of the 10 patients undergoing decompression, 7 patients had improvement of the neurologic deficit, with resolution of pain in the remaining 3. None of our cases demonstrated deterioration. CONCLUSION: VH are often discovered incidentally during evaluation of spinal pain. Except in rare cases, the diagnosis of VH is made correctly from the radiographic and MRI studies. Observation for the asymptomatic lesion is appropriate. For VH presenting with deficit or intractable pain, decompressive surgery is recommended. Radiation is appropriate in cases of recurrent VH.
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Descompresión Quirúrgica , Hemangioma/terapia , Neoplasias de la Columna Vertebral/terapia , Vertebroplastia , Espera Vigilante , Adulto , Anciano , Enfermedades Asintomáticas , Dolor de Espalda/etiología , Dolor de Espalda/fisiopatología , Femenino , Hemangioma/complicaciones , Hemangioma/diagnóstico , Hemangioma/fisiopatología , Humanos , Hallazgos Incidentales , Masculino , Persona de Mediana Edad , Dolor de Cuello/etiología , Dolor de Cuello/fisiopatología , Procedimientos Neuroquirúrgicos , Neoplasias de la Columna Vertebral/complicaciones , Neoplasias de la Columna Vertebral/diagnóstico , Neoplasias de la Columna Vertebral/fisiopatología , Resultado del TratamientoRESUMEN
AIMS: Comorbid mental health conditions (MHCs) such as depression and anxiety are common in people with epilepsy. Targeted Self-Management for Epilepsy and Mental Illness (TIME) is a behavioral program that targets mood symptoms in adults with epilepsy and comorbid MHCs. Building upon positive findings of a randomized controlled study to establish the efficacy of TIME, the Community-TIME (C-TIME) initiative assessed the implementation feasibility and pre-/post-outcomes of this new evidence-based epilepsy self-management intervention in a community setting and in collaboration with key stakeholders. METHODS: The C-TIME program is a group-format curriculum-based intervention delivered in ten 60-90 sessions over the course of 12â¯weeks. The C-TIME initiative used research staff to guide intervention performance evaluation, staff of a regional epilepsy advocacy agency to assist with community engagement and a county mental health services agency to support the transition from science to service. Process evaluations included outreach and engagement efforts needed to reach people with epilepsy and MHCs, the barriers and facilitators to roll out, and the participants' retention and satisfaction. The primary intervention participant outcome was depressive symptom severity at 4-month follow-up. RESULTS: Referrals came from a variety of sources and approximately 1 in 3 referrals resulted in an enrollment. Thirty individuals were enrolled in 3 "cohorts" of 10. The most common reason for not being enrolled postscreening was that individuals did not show up for the baseline evaluation. Mean age of participants was 49.1 (12.8) years, 50% (Nâ¯=â¯15) female, 55.2% (Nâ¯=â¯16) white, 34.5% (Nâ¯=â¯10) African-American. With respect to participation, 2/3 of the enrolled sample attended at least 7 out of the maximum 10 C-TIME sessions. Mean number of C-TIME sessions attended was 6.9 (4.1). Five participants (17%) had family members attend the C-TIME sessions, although family members were encouraged to play a supportive rather than primary role. Four-month follow-up outcome evaluation was available for 66% of the enrolled group. There was a significant reduction in depression severity, and patient satisfaction was over 90%. CONCLUSIONS: The C-TIME program can be successfully implemented in the community and is associated with improved outcomes in adults with epilepsy and comorbid MHCs. Continued and broader scale-up of C-TIME and similar approaches could reach larger groups of adults with epilepsy and improve the health of our communities.
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Servicios Comunitarios de Salud Mental/métodos , Costo de Enfermedad , Epilepsia/psicología , Trastornos Mentales/psicología , Automanejo/métodos , Automanejo/psicología , Adulto , Investigación Biomédica/métodos , Comorbilidad , Epilepsia/epidemiología , Epilepsia/terapia , Familia/psicología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Trastornos Mentales/epidemiología , Trastornos Mentales/terapia , Persona de Mediana Edad , Evaluación de Resultado en la Atención de Salud , Satisfacción del Paciente , Asociación entre el Sector Público-PrivadoRESUMEN
OBJECTIVES: Serious mental illness is disproportionately common in people with epilepsy and contributes to complications and mortality. Few care approaches specifically target individuals who have epilepsy and severe mental illness. We used an iterative process to refine an existing intervention and tested the novel intervention, Targeted Self-Management for Epilepsy and Mental Illness (TIME) in individuals with epilepsy and comorbid mental illness (E-MI). METHODS: The TIME intervention was developed with input from a community advisory board and then tested for feasibility, acceptability, and preliminary efficacy in people with E-MI, using a 16-week prospective, randomized controlled design comparing TIME (N=22) vs. treatment as usual (TAU, N=22). Primary outcome was change in depressive symptoms, assessed by the Montgomery Asberg Depression Rating Scale (MADRS). Secondary assessments included global psychiatric symptom severity, seizure frequency, sleep patterns, quality of life, stigma, social support, and self-efficacy. RESULTS: There were 44 individuals enrolled, mean age 48.25 (SD=11.82) with 25 (56.8%) African-Americans. The majority (N=31, 70.5%) were unemployed, and most (N=41, 95.5%) had annual income Asunto(s)
Epilepsia/terapia
, Trastornos Mentales/terapia
, Educación del Paciente como Asunto/métodos
, Autocuidado/métodos
, Adulto
, Comorbilidad
, Epilepsia/epidemiología
, Femenino
, Humanos
, Masculino
, Trastornos Mentales/epidemiología
, Persona de Mediana Edad
RESUMEN
BACKGROUND/AIMS: Innately low hepcidin levels lead to iron overload in HFE-associated hereditary haemochromatosis. METHODS: This study compared hepcidin and non-transferrin bound iron (NTBI) levels in untreated iron-loaded and non-iron-loaded C282Y homozygotes to levels in C282Y/H63D compound heterozygotes and individuals with other HFE genotypes associated with less risk of iron overload. RESULTS: As the genotypic risk for iron overload increased, transferrin saturation and serum NTBI levels increased while serum hepcidin levels decreased. Overweight and obese male C282Y homozygotes had significantly higher hepcidin levels than male C282Y homozygotes with a normal BMI. Pearson product-moment analysis showed that serum hepcidin levels significantly correlated with HFE status, serum ferritin, age, NTBI, transferrin saturation, gender and BMI. Subsequent multiple regression analysis showed that HFE status and serum ferritin were significant independent correlates of serum hepcidin levels. CONCLUSIONS: In summary, this study has shown that while serum ferritin and HFE status are the most important determinants of hepcidin levels, factors such age, gender, BMI, transferrin saturation and NTBI all interact closely in the matrix of homeostatic iron balance.
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Ferritinas/sangre , Hemocromatosis/sangre , Hepcidinas/sangre , Antígenos de Histocompatibilidad Clase I/genética , Homocigoto , Hierro/sangre , Proteínas de la Membrana/genética , Mutación Missense , Adulto , Factores de Edad , Anciano , Sustitución de Aminoácidos , Femenino , Hemocromatosis/genética , Proteína de la Hemocromatosis , Hepcidinas/genética , Antígenos de Histocompatibilidad Clase I/sangre , Humanos , Sobrecarga de Hierro/sangre , Sobrecarga de Hierro/etiología , Sobrecarga de Hierro/genética , Masculino , Proteínas de la Membrana/sangre , Persona de Mediana Edad , Obesidad/sangre , Obesidad/genética , Factores de Riesgo , Factores SexualesRESUMEN
UNLABELLED: Hereditary hemochromatosis (HH) is a common inherited iron overload disorder. The vast majority of patients carry the missense Cys282Tyr mutation of the HFE gene. Hepcidin, the central regulator of iron homeostasis, is deficient in HH, leading to unchecked iron absorption and subsequent iron overload. The bone morphogenic protein (BMP)/small mothers against decapentaplegic (Smad) signaling cascade is central to the regulation of hepcidin. Recent data from HH mice models indicate that this pathway may be defective in the absence of the HFE protein. Hepatic BMP/Smad signaling has not been characterized in a human HFE-HH cohort to date. Hepatic expression of BMP/Smad-related genes was examined in 20 HFE-HH males with significant iron overload, and compared to seven male HFE wild-type controls using quantitative real-time reverse transcription polymerase chain reaction. Hepatic expression of BMP6 was appropriately elevated in HFE-HH compared to controls (P = 0.02), likely related to iron overload. Despite this, no increased expression of the BMP target genes hepcidin and Id1 was observed, and diminished phosphorylation of Smad1/Smad5/Smad8 protein relative to iron burden was found upon immunohistochemical analysis, suggesting that impaired BMP signaling occurs in HFE-HH. Furthermore, Smad6 and Smad7, inhibitors of BMP signaling, were up-regulated in HFE-HH compared to controls (P = 0.001 and P = 0.018, respectively). CONCLUSION: New data arising from this study suggest that impaired BMP signaling underlies the hepcidin deficiency of HFE-HH. Moreover, the inhibitory Smads, Smad6, and Smad7 are identified as potential disruptors of this signal and, hence, contributors to the pathogenesis of this disease.
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Péptidos Catiónicos Antimicrobianos/deficiencia , Proteína Morfogenética Ósea 6/fisiología , Transducción de Señal/fisiología , Proteína smad6/biosíntesis , Proteína smad7/biosíntesis , Adulto , Hemocromatosis/genética , Proteína de la Hemocromatosis , Hepcidinas , Antígenos de Histocompatibilidad Clase I/genética , Humanos , Sobrecarga de Hierro/genética , Masculino , Proteínas de la Membrana/genética , Persona de Mediana Edad , Proteína Smad8/genética , Regulación hacia ArribaAsunto(s)
Aterosclerosis/genética , Hemocromatosis/genética , Hierro/metabolismo , Mutación , Péptidos Catiónicos Antimicrobianos/genética , Péptidos Catiónicos Antimicrobianos/farmacología , Aterosclerosis/inmunología , Aterosclerosis/metabolismo , Hemocromatosis/inmunología , Hemocromatosis/metabolismo , Hepcidinas , HumanosRESUMEN
BACKGROUND: Individuals with pathogenic mutations in HFE, hemojuvelin (HJV) and transferrin receptor 2 (TfR2) have low levels of hepcidin, but little is known about the hepatic expression of these molecules in patients with physiological iron overload or HFE associated Hemochromatosis (HH). AIMS: To examine the hepatic mRNA expression of iron homeostasis genes in patients with HH, physiological iron overload and healthy controls. PATIENTS: Untreated C282Y homozygous HH patients (n=20) with elevated serum ferritin (SF) and patients with physiological iron overload (n=12) with positive hepatocellular iron staining and negative HFE mutation analysis were evaluated. The control cohort (n=10) had normal iron parameters, negative HFE mutation analysis and negative hepatocellular iron staining. METHODS: Hepcidin, HJV (hemojuvelin), TfR2 (transferrin receptor 2), HFE, IL6 (interleukin 6) and ferroportin mRNA expression patterns were evaluated using quantitative real-time PCR. RESULTS: Physiological iron overload led to significantly upregulated hepcidin, HJV and ferroportin mRNA expression while TfR2 expression was not significantly different to controls. In contrast, HFE associated iron overload failed to induce hepcidin or HJV. TfR2 mRNA expression was significantly reduced when compared to controls. Ferroportin expression in HH was comparable to that found in physiological iron overload. Neither HFE nor IL6 expression was altered by variation in iron status. CONCLUSIONS: These findings suggest that patients with HH, in contrast to those with physiological iron overload, have a weakened TfR2 sensing mechanism that leads to the lack of induction of hepcidin and HJV. The C282Y HFE mutation does not appear to impede the hepatocellular iron export function of ferroportin.
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Perfilación de la Expresión Génica , Hemocromatosis/genética , Hemocromatosis/metabolismo , Antígenos de Histocompatibilidad Clase I/genética , Hierro/metabolismo , Hígado/metabolismo , Proteínas de la Membrana/genética , Adulto , Anciano , Femenino , Proteína de la Hemocromatosis , Antígenos de Histocompatibilidad Clase I/metabolismo , Humanos , Masculino , Proteínas de la Membrana/metabolismo , Persona de Mediana EdadRESUMEN
BACKGROUND/AIMS: Homozygosity for a cysteine to tyrosine translocation at position 282 within the HFE gene (C282Y) is responsible for over 90% of hereditary hemochromatosis (HH) in Celtic populations. Determining those C282Y homozygotes at greatest risk for iron overload is a major clinical concern as only a small percentage will develop clinically significant iron overload. Divalent metal transport protein (DMT1) on the apical surface of duodenal enterocytes is recognised as the major iron import protein. We investigated whether genetic variability within the DMT1 gene may partly explain the phenotypic variability seen amongst a group of C282Y homozygotes with iron overload. METHODS: One hundred and one unrelated C282Y homozygotes and 103 C282Y negative controls were analysed for the presence of four specific mutations/polymorphisms within the DMT1 gene (1245T/C, 1303C/A, IVS4 + 44C/A, IVS15Ex16-16C/G) using standard PCR techniques. Hepatic iron deposition was determined in 32 HH patients following Perls Prussian blue staining (0-4+). Estimations of the haplotype frequencies were performed utilising the program Arlequin version 2. RESULTS: There were no significant differences in the allele frequencies of the IVS4 + 44C/A, 1303C/A, 1254T/C and IVS15Ex16-16C/G polymorphisms in the patient cohort compared to those observed in the control cohort. The commonest haplotypes identified were CCTC: IVS4C + 44C, 1303C, 1254T, IVS15ex16-16C; ACCC: IVS4C + 44A, 1303C, 1254C, IVS15ex16-16C and ACTG: IVS4C + 44A, 1303C, 1254T, IVS15ex16-16G. Similarly, there were no significant differences in the frequencies of these three haplotypes in the patient cohorts (regardless of the degree of hepatic iron deposition) compared to the control cohort. CONCLUSIONS: Polymorphisms within DMT1 gene do not influence penetrance of the HH phenotype.
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Proteínas de Transporte de Catión/genética , Hemocromatosis/genética , Proteínas de Unión a Hierro/genética , Polimorfismo Genético , Adolescente , Adulto , Anciano , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Haplotipos , Humanos , Hierro/metabolismo , Sobrecarga de Hierro/genética , Hígado/metabolismo , Masculino , Persona de Mediana Edad , Mutación , Fenotipo , Reacción en Cadena de la PolimerasaRESUMEN
Low-grade fibromyxoid sarcoma (LGFMS) is a rare metastasizing soft tissue tumor with deceptively bland histologic features. The hyalinizing spindle cell tumor with giant rosettes (HSCT) is thought to be a closely related tumor differing only by the presence of collagen rosettes. We report the occurrence of a common t(7;16)(q34;p11) translocation in 2 cases of HSCT and 2 cases of LGFMS, thereby providing the first cytogenetic proof that LGFMS and HSCT are variants of the same entity. The tumors occurred in the thighs of 2 females and in the buttock and supraclavicular fossa of 2 males. One HSCT had a spectrum of unusual histologic features, including the presence of plump epithelioid cells with abundant cytoplasm and strands and nests of clear epithelioid cells separated by eosinophilic hyalinized stroma. Two cases showed a hitherto unreported, focal staining with epithelial membrane antigen, thus adding to the immunohistochemical profile of these tumors. LGFMS and HSCT probably have a wider spectrum of morphologic features than previously thought, the awareness of which will help pathologists to avoid diagnostic pitfalls. Demonstration of the t(7;16)(q34;p11) translocation will help to diagnose difficult cases with unusual histologic features.