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Through the use of genetic sequencing, molecular variants driving autoimmunity are increasingly identified in patients with chronic and refractory immune cytopenias. With the goal of discovering genetic variants that predispose to pediatric immune thrombocytopenia (ITP) or increase risk for chronic disease, we conducted a genome-wide association study in a large multi-institutional cohort of pediatric patients with ITP. Five-hundred ninety-one patients were genotyped using an Illumina Global Screening Array (GSA) BeadChip. Six variants met genome wide significance in comparison between children with ITP and a cohort of healthy children. One variant in NAV2 was inversely associated with ITP (aOR: 0.52, P=3.2x10-11). Two other variants in close proximity to NKD1 were also inversely associated with ITP (aOR: 0.43, P=8.86x10-15; aOR: 0.48, P=1.84x10-16). These genes have been linked to the canonical Wnt signaling pathway. No variants met genome-wide significance in comparison of those with ITP that self-resolved in less than 1 year versus those who developed chronic ITP. This study identifies genetic variants which may contribute to ITP risk and raises a novel pathway with a potential role in ITP pathogenesis.
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Herbal and dietary supplements (HDS) are a common etiology of drug induced liver injury and, specifically, Herbalife® supplements have been implicated. Hepatitis associated aplastic anemia (HAAA) is a rare and potentially fatal complication after acute hepatitis characterized by pancytopenia. While there have been rare cases of HDS leading to HAAA, no cases of Herbalife® induced liver injury leading to HAAA have been reported from this specific HDS. We report a unique case of severe aplastic anemia developing after sub-fulminant liver failure associated with chronic HDS use. This case illustrates the importance of warning the public about HDS as their use continues to increase. It is not only important to recognize HDS as etiology, but also for healthcare providers to carefully monitor these patients after resolution of liver injury for the development of HAAA.
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Background: The mental health of children/young people is a growing concern internationally. Numerous reports and reviews have consistently described United Kingdom children's mental health services as fragmented, variable, inaccessible and lacking an evidence base. Little is known about the effectiveness of, and implementation complexities associated with, service models for children/young people experiencing 'common' mental health problems like anxiety, depression, attention deficit hyperactivity disorder and self-harm. Aim: To develop a model for high-quality service design for children/young people experiencing common mental health problems by identifying available services, barriers and enablers to access, and the effectiveness, cost effectiveness and acceptability of such services. Design: Evidence syntheses with primary research, using a sequential, mixed-methods design. Inter-related scoping and integrative reviews were conducted alongside a map of relevant services across England and Wales, followed by a collective case study of English and Welsh services. Setting: Global (systematic reviews); England and Wales (service map; case study). Data sources: Literature reviews: relevant bibliographic databases and grey literature. Service map: online survey and offline desk research. Case study: 108 participants (41 children/young people, 26 parents, 41 staff) across nine case study sites. Methods: A single literature search informed both reviews. The service map was obtained from an online survey and internet searches. Case study sites were sampled from the service map; because of coronavirus disease 2019, case study data were collected remotely. 'Young co-researchers' assisted with case study data collection. The integrative review and case study data were synthesised using the 'weaving' approach of 'integration through narrative'. Results: A service model typology was derived from the scoping review. The integrative review found effectiveness evidence for collaborative care, outreach approaches, brief intervention services and the 'availability, responsiveness and continuity' framework. There was cost-effectiveness evidence only for collaborative care. No service model appeared to be more acceptable than others. The service map identified 154 English and Welsh services. Three themes emerged from the case study data: 'pathways to support'; 'service engagement'; and 'learning and understanding'. The integrative review and case study data were synthesised into a coproduced model of high-quality service provision for children/young people experiencing common mental health problems. Limitations: Defining 'service model' was a challenge. Some service initiatives were too new to have filtered through into the literature or service map. Coronavirus disease 2019 brought about a surge in remote/digital services which were under-represented in the literature. A dearth of relevant studies meant few cost-effectiveness conclusions could be drawn. Conclusions: There was no strong evidence to suggest any existing service model was better than another. Instead, we developed a coproduced, evidence-based model that incorporates the fundamental components necessary for high-quality children's mental health services and which has utility for policy, practice and research. Future work: Future work should focus on: the potential of our model to assist in designing, delivering and auditing children's mental health services; reasons for non-engagement in services; the cost effectiveness of different approaches in children's mental health; the advantages/disadvantages of digital/remote platforms in delivering services; understanding how and what the statutory sector might learn from the non-statutory sector regarding choice, personalisation and flexibility. Study registration: This study is registered as PROSPERO CRD42018106219. Funding: This award was funded by the National Institute for Health and Care Research (NIHR) Health and Social Care Delivery Research programme (NIHR award ref: 17/09/08) and is published in full in Health and Social Care Delivery Research; Vol. 12, No. 13. See the NIHR Funding and Awards website for further award information.
In this research study, we explored services for children and young people with 'common' mental health problems like depression, anxiety and self-harm. We aimed to find out what services exist, how children/young people and families find out about and access these services, what the services actually do, whether they are helpful and whether they offer value for money. We looked at the international literature (reports and research papers) to identify different approaches to providing support, and to find out whether certain approaches worked better than others and whether children/young people and families preferred some approaches over others. The literature provided very little information about the value for money of services. We also carried out a survey and used the internet to identify 154 relevant services in England and Wales. To explore services in more detail, and hear directly from those using them, we planned to visit 9 of the 154 services to interview children/young people, parents and staff. Unfortunately, coronavirus disease 2019 stopped us directly visiting the nine services and so we conducted phone and video interviews instead. We still managed to speak to, and hear the experiences of, more than 100 people (including children/young people and parents). We combined information from the literature with information from the interviews to create an evidence-based 'model' of what services should look like. This model considers some basic things like how quickly children/young people could access a service, what information was available, the importance of confidentiality and whether staff make the service fit with the child/young person's needs and interests. It also considers whether the service helps children/young people learn skills to manage their mental health and whether staff at a service work well together. We hope our model will help existing and new services improve what they offer to children/young people and families.
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Trastornos Mentales , Servicios de Salud Mental , Humanos , Niño , Adolescente , Servicios de Salud Mental/organización & administración , Trastornos Mentales/terapia , COVID-19/epidemiología , Inglaterra , Gales , Análisis Costo-Beneficio , Accesibilidad a los Servicios de Salud/organización & administración , Masculino , Femenino , Servicios de Salud del Niño/organización & administración , SARS-CoV-2RESUMEN
FRY-like transcription coactivator (FRYL) belongs to a Furry protein family that is evolutionarily conserved from yeast to humans. The functions of FRYL in mammals are largely unknown, and variants in FRYL have not previously been associated with a Mendelian disease. Here, we report fourteen individuals with heterozygous variants in FRYL who present with developmental delay, intellectual disability, dysmorphic features, and other congenital anomalies in multiple systems. The variants are confirmed de novo in all individuals except one. Human genetic data suggest that FRYL is intolerant to loss of function (LoF). We find that the fly FRYL ortholog, furry (fry), is expressed in multiple tissues, including the central nervous system where it is present in neurons but not in glia. Homozygous fry LoF mutation is lethal at various developmental stages, and loss of fry in mutant clones causes defects in wings and compound eyes. We next modeled four out of the five missense variants found in affected individuals using fry knockin alleles. One variant behaves as a severe LoF variant, whereas two others behave as partial LoF variants. One variant does not cause any observable defect in flies, and the corresponding human variant is not confirmed to be de novo, suggesting that this is a variant of uncertain significance. In summary, our findings support that fry is required for proper development in flies and that the LoF variants in FRYL cause a dominant disorder with developmental and neurological symptoms due to haploinsufficiency.
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Discapacidad Intelectual , Anomalías Musculoesqueléticas , Animales , Niño , Humanos , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/diagnóstico , Discapacidad Intelectual/genética , Mamíferos , Anomalías Musculoesqueléticas/genética , Mutación Missense , Factores de Transcripción/genética , DrosophilaRESUMEN
OBJECTIVE: To characterize the evaluation and outcomes of children referred to pediatric hematology for normocytic anemia. STUDY DESIGN: Retrospective cohort study of children aged 0-21 years referred to a tertiary pediatric hematology clinic for normocytic anemia from 2019 through 2021. Normocytic anemia was defined as a low hemoglobin and normal mean corpuscular volume, per the referring laboratory reference range. RESULTS: Two-hundred seventy-one patients (48% female, median age 5.4 years) were included. The most common hematologic diagnoses included iron deficiency (n = 90, 33%), statistical anemia (n = 64, 24%), transient marrow suppression (n = 36, 13%), and transient erythroblastopenia of childhood (TEC, n = 19, 7%). There were 17 (6%) patients in whom anemia was thought to be secondary to a nonhematologic disorder and therefore were referred to another pediatric specialty. Sixteen patients (6%) had anemia which spontaneously resolved without an underlying etiology being identified. Aside from iron deficient patients, 35 (13%) had diagnoses requiring ongoing hematology care including transient erythroblastopenia of childhood, hemolytic anemia, Diamond Blackfan Anemia, and abnormal beta globin traits. Two-hundred fifty-one patients (93%) were discharged from hematology care after a median of 25 days (range 0-2124 days). CONCLUSION: Pediatric patients with normocytic anemia have diverse underlying etiologies with iron deficiency being most common. These data support initial management within the primary care setting including assessment of a serum ferritin, iron panel, and reticulocyte count, with only a subset of patients requiring ongoing subspecialty care.
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Anemia , Humanos , Femenino , Masculino , Estudios Retrospectivos , Preescolar , Lactante , Niño , Adolescente , Anemia/etiología , Anemia/epidemiología , Anemia/diagnóstico , Recién Nacido , Adulto Joven , Índices de EritrocitosRESUMEN
BACKGROUND: There is a lack of research about the experiences and impact of having a sibling with a life-limiting condition. Studies focus on the sibling experience during childhood but the experience and impact during adulthood is unknown despite the increased life-expectancy of children with life-limiting conditions. AIM: To explore adult siblings' perspectives on the experience of having a sister/brother with a childhood life-limiting condition and to identify their perceived needs and preferences for support. DESIGN: A qualitative exploratory study design with data generated by semi-structured interviews and analysed using reflexive thematic analysis, underpinned by interpretivism. SETTING/PARTICIPANTS: Twenty-two siblings (17-42 years old) were recruited via a children's hospice in England. RESULTS: The experience of having a sibling with a life-limiting condition changes over time in response to how understandings of the meaning of a life-limiting condition develop and changing roles/relationships with parents and siblings. These experiences have an enduring impact on adult sibling's mental health which is compounded by their unmet (and sometimes unrecognised) support needs in adolescence and adulthood. Siblings described the importance of support continuing into adulthood with a focus on the provision of psychotherapy and peer support. CONCLUSIONS: Having a sister/brother with a childhood life-limiting condition appeared to have a significant and ongoing impact on adult siblings but their support needs, particularly for psychotherapy and peer support, are overlooked. The findings highlight the importance of ensuring siblings are included in family assessments and that family-based interventions are developed to promote sibling-parent relationships.
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Cuidados Paliativos al Final de la Vida , Hermanos , Masculino , Adulto , Niño , Adolescente , Humanos , Adulto Joven , Hermanos/psicología , Relaciones entre Hermanos , Inglaterra , Investigación Cualitativa , Adaptación PsicológicaRESUMEN
BACKGROUND: Little is known about the effectiveness of, and implementation complexities associated with, service delivery models for children and young people (CYP) experiencing 'common' mental health problems such as anxiety, depression, behavioural difficulties and self-harm. This paper outlines how a model for high-quality service design for this population group was developed by identifying available services, their effectiveness, cost-effectiveness and acceptability, and the barriers and enablers to access. METHODS: Sequential, mixed-methods design, combining evidence syntheses (scoping and integrative reviews of the international literature) with primary research (a collective case study in England and Wales). Data from these two elements were collaboratively synthesised in a subsequent model-building phase. RESULTS: The scoping review yielded a service model typology. The integrative review found effectiveness evidence only for four models: collaborative care (the only service model to also have cost-effectiveness evidence), outreach approaches, brief intervention services and an organisational framework called 'Availability, Responsiveness and Continuity'. No service model seemed more acceptable than others. Three case study themes were identified: pathways to support; service engagement; and learning and understanding. The model-building phase identified rapid access, learning self-care skills, individualised support, clear information, compassionate and competent staff and aftercare planning as core characteristics of high-quality services. These characteristics were underpinned by four organisational qualities: values that respect confidentiality; engagement and involvement; collaborative relationships; and a learning culture. CONCLUSIONS: A consistent organisational evidence-base for service design and delivery in CYP's mental health spanning many years appears to have had little impact on service provision in England and Wales. Rather than impose - often inflexible and untested - specific local or national models or frameworks, those commissioning, designing and delivering mental health services for CYP should (re)focus on already known, fundamental components necessary for high-quality services. These fundamental components have been integrated into a collaboratively produced general model of service design for CYP with common mental health problems. While this general model is primarily focused on British service provision, it is broad enough to have utility for international audiences.
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Ansiedad , Salud Mental , Niño , Humanos , Adolescente , Trastornos de Ansiedad , Exactitud de los Datos , InglaterraRESUMEN
BACKGROUND: Children and young people's (CYP) mental health is a major public health concern internationally and the recent Covid-19 pandemic has amplified these concerns. However, only a minority of CYP receive support from mental health services due to the attitudinal and structural barriers they and their families encounter. For over 20 years, report after report has consistently highlighted the shortcomings of mental health services for CYP in the United Kingdom and attempts to improve services have been largely unsuccessful. The findings reported in this paper are from a multi-stage study that aimed to develop a model of effective, high-quality service design for CYP experiencing common mental health problems. The aim of the stage reported here was to identify CYP's, parents' and service providers' perceptions of the effectiveness, acceptability and accessibility of services. METHODS: Case studies were conducted of nine different services for CYP with common mental health problems in England and Wales. Data were collected using semi-structured interviews with 41 young people, 26 parents and 41 practitioners and were analysed using the Framework approach. Patient and Public Involvement was integrated throughout the study with a group of young co-researchers participating in data collection and analysis. RESULTS: Four key themes defined participants' perceptions of service effectiveness, acceptability and accessibility. Firstly, open access to support with participants highlighting the importance of self-referral, support at the point of need and service availability to CYP/parents. Secondly, the development of therapeutic relationships to promote service engagement which was based on assessment of practitioner's personal qualities, interpersonal skills and mental health expertise and underpinned by relational continuity. Thirdly, personalisation was viewed as promoting service appropriateness and effectiveness by ensuring support was tailored to the individual. Fourthly, the development of self-care skills and mental health literacy helped CYP/parents manage and improve their/their child's mental health problems. CONCLUSIONS: This study contributes to knowledge by identifying four components that are perceived to be central to providing effective, acceptable and accessible mental health services for CYP with common mental health problems irrespective of service model or provider. These components could be used as the foundations for designing and improving services.
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COVID-19 , Servicios de Salud Mental , Humanos , Niño , Adolescente , Salud Mental , Pandemias , PadresAsunto(s)
Trombocitopenia , Deformidades Congénitas de las Extremidades Superiores , Síndromes Congénitos de Insuficiencia de la Médula Ósea/diagnóstico , Femenino , Humanos , Embarazo , Diagnóstico Prenatal , Radio (Anatomía) , Trombocitopenia/diagnóstico , Trombocitopenia/terapia , Deformidades Congénitas de las Extremidades Superiores/diagnóstico , Deformidades Congénitas de las Extremidades Superiores/genética , Deformidades Congénitas de las Extremidades Superiores/terapiaRESUMEN
The mRNA COVID-19 vaccine and COVID-19 infection caused by the SARS-CoV-2 virus may be immunologic triggers for the development of thrombotic thrombocytopenic purpura (TTP). There is not yet literature that discusses TTP induced by COVID-19 vaccination or infection in pediatric or adolescent patients. We describe three adolescents presenting with TTP (both de novo and relapsed disease) following administration of the Pfizer COVID-19 vaccine or after COVID-19 infection. Our observations demonstrate that the Pfizer-BioNTech mRNA vaccine and COVID-19 infection can act as triggers for the development/relapse of both congenital and acquired TTP.
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COVID-19 , Púrpura Trombocitopénica Trombótica , Adolescente , Vacuna BNT162 , COVID-19/complicaciones , Vacunas contra la COVID-19/efectos adversos , Niño , Humanos , Púrpura Trombocitopénica Trombótica/genética , ARN Mensajero/genética , SARS-CoV-2 , Vacunas Sintéticas , Vacunas de ARNmRESUMEN
Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening hematologic disease, presenting a myriad of diagnostic and management challenges in children. Here, we provide a review of this disorder and discuss 2 exemplary cases of TTP occurring in adolescents, emphasizing the need for consideration of late-onset congenital TTP (cTTP). We demonstrate the importance of early confirmation of ADAMTS13 enzyme deficiency and the presence or absence of ADAMTS13 inhibitor in order to rapidly initiate the appropriate life-saving therapies. Ultimately, molecular testing is paramount to distinguishing between congenital and acquired immune-mediated TTP.
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Púrpura Trombocitopénica Trombótica , Adolescente , Niño , Humanos , Púrpura Trombocitopénica Trombótica/diagnóstico , Púrpura Trombocitopénica Trombótica/genética , Púrpura Trombocitopénica Trombótica/terapiaRESUMEN
BACKGROUND: Parents experience unique grief, which may be experienced differently by mothers and fathers. A lack of knowledge about the particular bereavement experiences of the parents of young adults exists. OBJECTIVE: The aim of this study was to investigate experiences and support needs of parents after the death of a child (aged 16-29 years) from cancer, exploring changes over time. METHODS: The study used a Charmazian constructivist grounded theory approach. Semistructured interviews were conducted with 11 parents (7 mothers and 4 fathers) purposefully sampled and bereaved between 15 months and 7 years. Data were analyzed inductively using the constant comparative approach for category development. RESULTS: "Living with continual loss" emerged as the core category central to parents' experiences of bereavement. Feelings of continual loss were compounded by parents' lack of information ("grieving in the dark") and a perceived lack of understanding from families and friends ("grieving alone"). Parents discovered strategies to manage the feeling of loss: "changing routines," "preserving the meaning of home," "maintaining memories and presence," and "sharing experiences." CONCLUSIONS: This is the first study focusing solely on the experiences and support needs of bereaved parents of young adults who have died of cancer. Parents live with a continual sense of loss irrespective of the length of bereavement, and a lack of bereavement information and empathetic emotional support can exist. IMPLICATIONS FOR PRACTICE: The need for improved information giving and development of peer support for bereaved parents has been identified. Cancer centers have a continuing role in developing and providing this support.
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Aflicción , Neoplasias , Adulto , Niño , Familia , Pesar , Humanos , Neoplasias/psicología , Padres/psicología , Apoyo Social , Adulto JovenRESUMEN
In the 1970s, clones of the two subspecies of Ophiostoma novo-ulmi, subsp. americana (SSAM) and subsp. novo-ulmi (SSNU) began to overlap in Europe, resulting in hybrid swarms. By 1983-1986, hybrids with high, SSAM-like growth and pathogenic fitness comprised ~75% of popula-tions at Limburg, Netherlands and Orvieto, Italy. We resampled these populations in 2008 to examine trends in hybrid fitness traits. Since preliminary sampling in 1979-1980, MAT-1 locus frequency had increased from ~0% to ~32% at Orvieto and 5% to ~43% at Limburg, and vegeta-tive incompatibility type frequency had changed from near clonal to extremely diverse at both sites. This represents an enormous increase in outcrossing and recombination potential, due in part to selective acquisition (under virus pressure) of MAT-1 and vic loci from the resident O. ulmi and in part to SSAM × SSNU hybridisation. Overt virus infection in the 2008 samples was low (~4%), diagnostic SSAM and SSNU cu and col1 loci were recombinant, and no isolates exhib-ited a parental SSAM or SSNU colony pattern. At both sites, mean growth rate and mean patho-genicity to 3-5 m clonal elm were high SSAM-like, indicating sustained directional selection for these characters, though at Orvieto growth rate was slower. The once frequent SSNU-specific up-mut colony dimorphism was largely eliminated at both sites. Perithecia formed by Limburg isolates were mainly an extreme, long-necked SSNU-like form, consistent with transgressive segregation resulting from mismatch of SSAM and SSNU developmental loci. Orvieto isolates produced more parental-like perithecia, suggesting the extreme phenotypes may have been se-lected against. The novel phenotypes in the swarms are remodelling O. novo-ulmi in Europe. Locally adapted genotypes may emerge.
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Congenital disorders of glycosylation are a group of rare monogenic inborn errors of metabolism caused by defective glycoprotein and glycolipid glycan synthesis and attachment. Here, we present a patient with galactose epimerase deficiency, also known as GALE deficiency, accompanied by pancytopenia and immune dysregulation. She was first identified by an abnormal newborn screen for galactosemia with subsequent genetic evaluation due to pancytopenia and immune dysregulation. The evaluation ultimately revealed that her known diagnosis of GALE deficiency was the cause of her hematologic and immune abnormalities. These findings further expand the clinical spectrum of disease of congenital disorders of glycosylation.
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Trastornos Congénitos de Glicosilación/genética , Galactosemias/genética , UDPglucosa 4-Epimerasa/genética , Adulto , Trastornos Congénitos de Glicosilación/diagnóstico , Trastornos Congénitos de Glicosilación/patología , Femenino , Galactosemias/diagnóstico , Galactosemias/patología , Glucolípidos/biosíntesis , Glucolípidos/genética , Humanos , Mutación/genética , Fenotipo , Polisacáridos/biosíntesis , Polisacáridos/genética , UDPglucosa 4-Epimerasa/deficienciaAsunto(s)
Anemia Ferropénica/tratamiento farmacológico , Compuestos Férricos/efectos adversos , Hipofosfatemia/inducido químicamente , Maltosa/análogos & derivados , Fósforo/sangre , Adolescente , Factores de Edad , Anemia Ferropénica/sangre , Niño , Preescolar , Femenino , Compuestos Férricos/administración & dosificación , Humanos , Hipofosfatemia/epidemiología , Lactante , Infusiones Intravenosas , Masculino , Maltosa/administración & dosificación , Maltosa/efectos adversos , Estudios Retrospectivos , Adulto JovenRESUMEN
Evans syndrome is a rare but challenging disorder in children; and despite rapidly growing evidence for targetable systemic immune dysregulation driving these "idiopathic" autoimmune cytopenias, precision diagnosis and management remains sub-optimal among these patients. We analyzed retrospective clinical data for 60 pediatric ES patients followed at 3 large tertiary referral centers in the United States over a recent 6-year period and found that definable underlying systemic immune dysregulation was identified in only 42% of these patients throughout the course of clinical care. Median time from ES diagnosis to identification of the underlying systemic immune dysregulation disorder was 1.3 years (<1 month for rheumatologic disease, 2.3 years for CVID, 3.4 years for ALPS, and 7.4 years for monogenic disorders of immune regulation). Notably, a significantly higher percentage of patients in whom a definitive immune dysregulation disorder was ultimately identified required ≥3 cytopenia-directed therapies (92%) and also second- and third-line immunomodulatory agents (84%), vs those in whom no unifying immune dysregulation was diagnosed (65%, and 35%, respectively)-indicating that autoimmune cytopenias as a manifestation of systemic immune dysregulation are more treatment-refractory and severe. These data underline the importance of identifying the underlying systemic immune dysregulation and providing targeted therapy in pediatric ES.
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Anemia Hemolítica Autoinmune , Enfermedades Autoinmunes , Trombocitopenia , Adolescente , Adulto , Anemia Hemolítica Autoinmune/diagnóstico , Anemia Hemolítica Autoinmune/inmunología , Anemia Hemolítica Autoinmune/terapia , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/inmunología , Enfermedades Autoinmunes/terapia , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos , Trombocitopenia/diagnóstico , Trombocitopenia/inmunología , Trombocitopenia/terapiaRESUMEN
May-Thurner syndrome (MTS) predisposes individuals to develop lower extremity deep venous thrombosis (DVT) because of compression of the left common iliac vein. Diagnosis of the anatomic obstruction is critical for effective therapy, as treatment by interventional radiology is often required in addition to anticoagulation to prevent thrombus progression and recurrence. The authors performed a retrospective review of adolescent patients who presented with MTS-associated DVT at a pediatric tertiary care center from 2009 to 2018 to assess for delays in MTS diagnosis after the presentation. Fourteen patients (median age 16.5 y, range, 13.8 to 17.9 y) were included, no DVTs were provoked by a central venous catheter. The median time from DVT to MTS diagnosis was 0.65 months (range, 0 to 21.5 mo). The initial imaging modalities used for DVT diagnosis were not able to diagnosis MTS. All patients were treated with anticoagulation and 13 underwent interventional therapy. Four patients had thrombus progression or recurrence, whereas 6 had complete thrombus resolution on follow-up imaging. Three patients who had a delayed MTS diagnosis had clinical worsening despite therapeutic anticoagulation requiring rehospitalization. Adolescent patients with "unprovoked" left lower extremity DVT should undergo appropriate imaging to diagnose MTS to allow for adequate medical and interventional therapy.
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Síndrome de May-Thurner/complicaciones , Trombosis de la Vena/diagnóstico , Trombosis de la Vena/etiología , Adolescente , Anticoagulantes/uso terapéutico , Manejo de la Enfermedad , Femenino , Humanos , Masculino , Estudios Retrospectivos , Resultado del Tratamiento , Trombosis de la Vena/terapiaRESUMEN
A transient pancytopenic phase has been described in pediatric leukemia. The characteristic complete recovery of peripheral counts can obscure a clinician's suspicion for malignancy and may impact subsequent follow-up care. The authors describe 4 pediatric patients that had transient pancytopenia with an initial abnormal marrow finding. These patients were subsequently diagnosed with acute leukemia within 5 months of presentation. Awareness of this phenomenon by the provider and education of families may help with the appropriate and timely diagnosis of subsequent leukemia.