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1.
Contraception ; : 110519, 2024 Jun 17.
Artículo en Inglés | MEDLINE | ID: mdl-38897430

RESUMEN

OBJECTIVES: Misperceptions about intrauterine devices (IUDs) may dissuade potential users and public beliefs are not well understood. We sought to describe public knowledge of mechanism of action, failure rate, and IUD health risks. Secondary objectives included identifying inaccurate information and information sources about IUDs. STUDY DESIGN: We conducted a convenience-based survey of participants living in the United States 18 years and older using Amazon Mechanical Turk and ResearchMatch. We collected information on demographics, reproductive history, and IUD knowledge. We asked about IUD mechanism of action, failure rate, potential health risks, and information sources. We used multivariable logistic regression to test the association between gender and perceived lower (vs. higher) risks of IUDs. RESULTS: We included 1597 individuals with 726 (45.5%) self-reported men and 871 (54.5%) self-reported women. For both hormonal and non-hormonal IUDs, participants most often selected implantation prevention as the primary mechanism of action. In our sample, 55.5% of individuals believed the failure rate was greater than five percent. Weight gain, uterine perforation, and expulsion were cited as health risks likely to occur ≥5% of the time by 42.1%, 34.3%, and 38.4% of participants, respectively. Participants identified healthcare providers as their primary source of contraceptive information. Our multivariable logistic regression analysis revealed women had higher odds of perceiving IUDs as higher risk (aOR=1.35, 95% CI 1.09-1.68) compared to men. CONCLUSIONS: Individuals underestimated IUD effectiveness while overestimating perceived health risks. Our results highlight areas to target education about IUDs to support informed contraceptive decision-making. IMPLICATIONS: Participants misunderstood IUD mechanism of action, underestimated efficacy, and overestimated failure rates and health risks. Providers should begin clinical counseling by assessing baseline knowledge, since mechanism of action, side effect profiles, and concepts like female anatomy should not be assumed to be known.

2.
World Neurosurg ; 187: e629-e637, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38692572

RESUMEN

BACKGROUND: Management of patients with optic nerve sheath meningiomas (ONSMs) is controversial and the treatment strategy in this patient group is still up for discussion. Transnasal endoscopic orbital and optic nerve decompression aims to reduce the pressure in the orbit and on the optic nerve and thereby prevent vision loss. This article presents material from 7 cases of transnasal endoscopic orbital decompression. METHODS: The study design is a retrospective cohort study. The aim was to include all patients with a meningioma residing along the nerve sheath and who were operated using endoscopic transnasal decompression of the orbit and if needed the optic canal at Odense University Hospital. Data from the medical records were collected and pre- and postoperative eye examinations were compared. In addition, it was recorded whether there were complications to the procedure and whether additional treatments were given. RESULTS: In total, 4 women and 3 men were included in the study. Four out of 7 patients experienced improvement in vision after the operation. One patient experienced unchanged vision and 2 patients experienced deterioration of vision after surgery. CONCLUSIONS: The current report of 7 patients with ONSM shows promising results for this surgical procedure as 4 out of 7 patients experienced improvement in their vision at follow-up examinations. The 2 patients who experienced deterioration of vision already had severely reduced vision preoperatively, which indicates that surgery should be considered before the vision becomes significantly reduced.


Asunto(s)
Descompresión Quirúrgica , Neoplasias Meníngeas , Meningioma , Neoplasias del Nervio Óptico , Nervio Óptico , Humanos , Meningioma/cirugía , Meningioma/diagnóstico por imagen , Masculino , Femenino , Descompresión Quirúrgica/métodos , Persona de Mediana Edad , Estudios Retrospectivos , Anciano , Neoplasias Meníngeas/cirugía , Nervio Óptico/cirugía , Nervio Óptico/diagnóstico por imagen , Neoplasias del Nervio Óptico/cirugía , Adulto , Neuroendoscopía/métodos , Resultado del Tratamiento , Cirugía Endoscópica por Orificios Naturales/métodos , Estudios de Cohortes
3.
Health Aff Sch ; 2(5): qxae062, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38808329

RESUMEN

Recent price transparency laws are designed to better inform patients as they compare hospital options and "shop" for health care services. In addition to prices, underinsured patients seeking care need information on financial assistance, discounts, payment plans, and upfront payment requirements to compare the affordability of care across hospitals. Little is known about the availability of this information and the experience of prospective patients seeking it. We contacted a random sample of 10% of general short-term hospitals across the United States in this "secret shopper" telephone study to assess financial options and navigation challenges faced by underinsured patients in need of a non-emergency procedure. The administrative friction was substantial. Most hospitals have 3 siloed offices for (1) financial assistance, (2) payment plans and discounts, and (3) upfront payment requirements. All relevant offices were unreachable in 3 attempted calls at 18.1% of hospitals. Among hospitals with available information, the majority have financial options for patients: 86.7% of hospitals offer financial assistance and 97.0% of hospitals offer payment plans to underinsured patients for non-emergency care. The length and terms of payments plans varied widely for hospital-administered and third-party financing arrangements. Upfront payments were sometimes required, potentially posing barriers for patients without cash or credit access.

4.
Heliyon ; 10(6): e27418, 2024 Mar 30.
Artículo en Inglés | MEDLINE | ID: mdl-38510015

RESUMEN

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant syndrome caused by inactivating pathogenic variants in the tumor suppressor gene menin 1 on chromosome 11q13 (Falchetti et al., 2009). The syndrome is characterized by neoplasia in two or more endocrine glands and has a high degree of penetrance. Pathogenic germline multiple neoplasia type 1 variants primarily result in neoplasia affecting the parathyroid glands, the pancreatic islet cells, and the anterior pituitary in combination. Primary hyperparathyroidism is the most common pathological manifestation of the syndrome, followed by pancreatic neuroendocrine tumors. Important genetic confirmation has been provided showing that ependymoma should be considered as a neoplasm that can occur in patients with MEN1 (Kato et al., 1996; Cuevas-Ocampo et al., 2017). The biphasic histopathological tumor entity shown in the present case we name Pleomorphic Xanthoastocytoma grade 3 differential pathology (PDP) in association with Multiple Endocrine Neoplasia type 1. This MEN1 associated tumor subtype is an extension of the findings on MEN1 associated ependymoma, where we show that the clinical phenotype itself may potentially be triggered by a frameshift germline pathogenic variant for the MEN1 gene, in combination with cyclin-dependent kinase inhibitor 1B gene germline variant and cyclin dependent kinase inhibitor 2A somatic deletion downstream of menin.

5.
JAMA Health Forum ; 5(3): e240231, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38551590

RESUMEN

This cross-sectional study examines the prevalence of hospital-promoted medical payment products (MPPs) by whether hospitals offered any MPP or an interest-bearing MPP.


Asunto(s)
Hospitales , Medicare , Estados Unidos , Prevalencia
6.
J Autoimmun ; 144: 103174, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-38377868

RESUMEN

In many autoimmune diseases, autoantigen-specific Th17 cells play a pivotal role in disease pathogenesis. Th17 cells can transdifferentiate into other T cell subsets in inflammatory conditions, however, there have been no attempts to target Th17 cell plasticity using vaccines. We investigated if autoantigen-specific Th17 cells could be specifically targeted using a therapeutic vaccine approach, where antigen was formulated in all-trans retinoic acid (ATRA)-containing liposomes, permitting co-delivery of antigen and ATRA to the same target cell. Whilst ATRA was previously found to broadly reduce Th17 responses, we found that antigen formulated in ATRA-containing cationic liposomes only inhibited Th17 cells in an antigen-specific manner and not when combined with an irrelevant antigen. Furthermore, this approach shifted existing Th17 cells away from IL-17A expression and transcriptomic analysis of sorted Th17 lineage cells from IL-17 fate reporter mice revealed a shift of antigen-specific Th17 cells to exTh17 cells, expressing functional markers associated with T cell regulation and tolerance. In the experimental autoimmune encephalomyelitis (EAE) mouse model of MS, vaccination with myelin-specific (MOG) antigen in ATRA-containing liposomes reduced Th17 responses and alleviated disease. This highlights the potential of therapeutic vaccination for changing the phenotype of existing Th17 cells in the context of immune mediated diseases.


Asunto(s)
Encefalomielitis Autoinmune Experimental , Células Th17 , Ratones , Animales , Liposomas/metabolismo , Tretinoina/farmacología , Tretinoina/metabolismo , Autoantígenos/metabolismo , Adyuvantes Inmunológicos , Inmunización , Vacunación , Fenotipo , Ratones Endogámicos C57BL , Células TH1
7.
J Psychiatr Ment Health Nurs ; 31(2): 181-202, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37661752

RESUMEN

WHAT IS KNOWN ON THE SUBJECT?: Only 8.6% Asian Americans (AAs) report seeking mental health services compared to nearly 18% of the general population. There is a stigma against seeking mental health services among AAs. Mental illness is thought to be caused by a lack of harmony of emotions or evil spirits leading to delay in treatment among AAs. WHAT THE PAPER ADDS TO EXISTING KNOWLEDGE?: Asian students are hesitant to use mental health services because they are balancing their desire to be part of the two cultures. Concepts used to define culture were found to have overlapping aspects of how researchers operationally define them, and few studies examined a combination of these concepts as a means of examining interactions between the concepts. AA emerging adults feel pressure through personal stigma from elders to 'save face' by keeping their problems to themselves or within the family to maintain a positive reputation for the family. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: The overlap of conceptual definitions to understand cultural beliefs and values affecting measurement have complicated the interpretation of the research. Future research should include a multidimensional operationalization of culture that includes acculturation, ethnic identity, personal stigma and their effect on mental health help-seeking attitudes. Differences between South Asian and East Asian philosophical and cultural perspectives could influence access to mental health services; therefore, future studies should consider sampling that would allow for comparison of the groups. Understanding the factors that influence mental health help-seeking behaviours can determine intervention strategies to improve AA emerging adult mental health. ABSTRACT: INTRODUCTION: Only 8.6% of Asian Americans (AA) sought mental health services compared to 18% of United States population. AA college students report higher levels of mental health concerns compared to White students. AIM: The purpose of this systematic review was to identify the factors that influence AA students' mental health help-seeking behaviours. METHOD: Employing a data-based convergent synthesis design. The Mixed Methods Appraisal Tool (MMAT) was used to assess the quality of the sample. Inclusion criteria were peer-reviewed studies published in English, focused on AA college students' mental health seeking attitudes in United States. RESULTS: The final sample was forty-four studies. Four themes emerged: acculturation, ethnic identity, racism and stigma. There were discrepant findings regarding how acculturation affects mental health help-seeking attitudes. Several studies included more than one theme in their analyses. The different concepts included across studies make it difficult to compare the findings. DISCUSSION: There is some overlap between acculturation and ethnic identity that could affect the analysis in studies where both concepts are included. Personal stigma negatively influences mental health help-seeking attitudes. IMPLICATIONS FOR PRACTICE: Defining culture to include acculturation, ethnic identity, personal stigma can help in understanding their effect on mental health help-seeking attitudes.


Asunto(s)
Trastornos Mentales , Servicios de Salud Mental , Adulto , Humanos , Estados Unidos , Anciano , Asiático , Salud Mental , Trastornos Mentales/terapia , Estudiantes/psicología , Estigma Social , Aceptación de la Atención de Salud/psicología
8.
Chem Commun (Camb) ; 59(14): 1947-1950, 2023 Feb 14.
Artículo en Inglés | MEDLINE | ID: mdl-36637415

RESUMEN

A practical strategy for the iodine-promoted synthesis of bis(1-imidazo[1,5-a]pyridyl)arylmethane and its derivatives has been developed. These compounds exhibit high cytotoxicity toward various cancer cell lines and moreover they are promising ligands for the Cu-catalysed synthesis of quinolines.

10.
Leuk Res Rep ; 18: 100355, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36338830

RESUMEN

Jehovah's Witnesses cannot accept blood products based upon religious beliefs, and when they present with acute leukemia, the ideal treatment strategy can be controversial. We present six cases of Jehovah's Witnesses with acute lymphoblastic leukemia and show that complete remission can be achieved without using anthracycline in 83% (5/6) of patients. We also report, for the first time in this population, that the use of agents with novel mechanisms of action, such as blinatumomab and nelarabine, is associated with minimal myelosuppression and can produce durable responses, with 2 of 6 patients still alive in CR3 at 4.9 and 6.6 years.

11.
BMC Rheumatol ; 6(1): 76, 2022 Nov 29.
Artículo en Inglés | MEDLINE | ID: mdl-36443813

RESUMEN

BACKGROUND: Although patients with rheumatic and musculoskeletal diseases (RMDs) are at increased risk for adverse outcomes of COVID-19 illness compared to healthy controls, they also have lower rates of willingness to be vaccinated. Previous research has identified reasons for vaccine hesitancy among patients with RMDs (such as concerns about side effects and flares), but little is known about what these reasons mean in the context of patients' lives, or how vaccine decision making is experienced from a patient perspective. Our objective was to describe decision-making about COVID-19 vaccination among RMD patients. METHODS: Participants in a RMD registry were invited to complete monthly online surveys regarding COVID-19 vaccination from March-June 2021. We qualitatively analyzed comments from two open-ended survey questions reporting general experiences with vaccination and side effects. Comments were coded for attitudes towards COVID-19 vaccination, vaccine access, rheumatologic medication management around vaccination, and vaccine side effects. Themes were identified for the process and context of COVID-19 vaccine decisions, patient motivations for receiving or avoiding vaccination, and consistency of peri-vaccine medication management with current ACR guidelines. RESULTS: We analyzed 710 comments from 537 respondents. Commenting respondents had a mean age of 64 years, were 87% female, 94% white, and 93% received/intended to receive ≥ 1 dose of a COVID-19 vaccine. Desire for protection and a return to normal routines motivated some commenters to get vaccinated, while concerns about vaccine side effects motivated others to delay or avoid vaccination. Several commenters reported disease flares following vaccination. Some commenters did not consult their providers about vaccination and failed to withhold immunomodulatory medications during vaccination, while others withheld medications more conservatively than recommended by current ACR guidelines, either on their own or directed by their provider. CONCLUSIONS: While most commenters were vaccine-accepting, challenges to COVID-19 vaccine uptake in the RMD population may include fears of side effects, including worsened RMD symptoms, and perceptions that vaccination is unnecessary. Addressing these concerns and beliefs may be critical for promoting vaccination in this population.

12.
Microbiol Resour Announc ; 11(11): e0084922, 2022 Nov 17.
Artículo en Inglés | MEDLINE | ID: mdl-36227095

RESUMEN

Anseraureola, Pondwater, and Yasuo are bacteriophages with siphovirus morphology that infect Microbacterium foliorum NRRL B-24224. They were isolated from soil collected in Amherst, Massachusetts, and have genome lengths between 17,362 bp and 17,453 bp. These phages each contain 25 predicted protein-coding genes and are assigned to phage cluster EE.

13.
NPJ Precis Oncol ; 6(1): 73, 2022 Oct 19.
Artículo en Inglés | MEDLINE | ID: mdl-36261486

RESUMEN

Patients with multiple myeloma-bearing translocation t(11;14) have recently been shown to benefit from the apoptosis-inducing drug venetoclax; however, the drug lacks FDA approval in multiple myeloma thus far due to a potential safety signal in the overall patient population. Selinexor is an inhibitor of nuclear export that is FDA-approved for patients with multiple myeloma refractory to multiple lines of therapy. Here, we report that in four patients with multiple myeloma with t(11;14), the concomitant administration of venetoclax and selinexor was safe and associated with disease response. Moreover, the combination was synergistic in t(11;14) multiple myeloma cell lines and caused decreased levels of Cyclin D1 (which is overexpressed due to the CCND1-IGH fusion) when given in combination as compared to single agents. These data suggest that the combination of venetoclax and selinexor is effective and t(11;14) may serve as a therapeutic marker for response and target for future clinical trials.

14.
Chem Asian J ; 17(22): e202200909, 2022 Nov 16.
Artículo en Inglés | MEDLINE | ID: mdl-36112054

RESUMEN

Quinoline derivatives are important moieties in bioactive molecules and advanced materials. However, an efficient strategy to synthesize quinoline derivatives remains challenging. Herein, we describe an efficient and practical method for the synthesis of quinolines by Cu-catalyzed cyclization of 2-amino benzyl alcohol with ketones (or secondary alcohols) via an acceptorless dehydrogenation pathway. Interestingly, a range of highly functionalized quinolines is prepared in good yields using low catalyst loading under relatively mild conditions. Furthermore, density functional theory (DFT) calculations are carried out to investigate mechanistic insights for the acceptorless dehydrogenation pathway.


Asunto(s)
Cetonas , Quinolinas , Catálisis , Alcoholes Bencílicos
15.
Epilepsia ; 63(11): 2970-2980, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36054260

RESUMEN

OBJECTIVE: In patients with status epilepticus (SE), the clinical significance of ictal changes on magnetic resonance imaging (MRI) is insufficiently understood. We here studied whether the presence of ictal MRI changes was associated with neurological deterioration at discharge. METHODS: The retrospective cohort comprised all identifiable patients treated at Odense University Hospital in the period 2008-2017. All amenable MRIs were systemically screened for ictal changes. Patient demographics, electroencephalography, seizure characteristics, treatment, and SE duration were assessed. Neurological status was estimated before and after SE. The predefined endpoint was the association of neurological deterioration and ictal MRI changes. RESULTS: Of 261 eligible patients, 101 received at least one MRI during SE or within 7 days after cessation; 43.6% (44/101) had SE due to non- or less brain-damaging etiologies. Patients who received MRI had a longer duration of SE, less frequently had a history of epilepsy, and were more likely to have SE due to unknown causes. Basic characteristics (including electroencephalographic features defined by the Salzburg criteria) did not differ between patients with (n = 20) and without (n = 81) ictal MRI changes. Timing of MRI was important; postictal changes were rare within the first 24 h and hardly seen >5 days after cessation of SE. Ictal MRI changes were associated with a higher risk of neurological deterioration at discharge irrespective of etiology. Furthermore, they were associated with a longer duration of SE and higher long-term mortality that reached statistical significance in patients with non- or less brain-damaging etiologies. SIGNIFICANCE: In this retrospective cohort, ictal changes on MRI were associated with a higher risk of neurological deterioration at discharge and, possibly, with a longer duration of SE and poorer survival.


Asunto(s)
Estado Epiléptico , Humanos , Estudios Retrospectivos , Estado Epiléptico/diagnóstico por imagen , Estado Epiléptico/patología , Electroencefalografía , Convulsiones , Imagen por Resonancia Magnética/métodos
17.
Ugeskr Laeger ; 184(21)2022 05 23.
Artículo en Danés | MEDLINE | ID: mdl-35656615

RESUMEN

In this case report, a 40-year-old woman presented with altered mentation, central facial palsy and hemiparesis. Acute CT scan showed several hypodense, rounded areas in both hemispheres. Urine toxicology tested positive for amphetamine. Subsequent cerebral MRI had hyperintense T2-weighted fluid-attenuated inverse recovery (FLAIR) lesions in both hemispheres, indicating demyelinating disease. A biopsy was made from one of the lesions. The final diagnosis was toxic encephalopathy.


Asunto(s)
Anfetamina , Síndromes de Neurotoxicidad , Adulto , Femenino , Humanos , Imagen por Resonancia Magnética/efectos adversos , Síndromes de Neurotoxicidad/diagnóstico por imagen , Síndromes de Neurotoxicidad/etiología , Tomografía Computarizada por Rayos X
18.
J Neuroimmunol ; 369: 577913, 2022 08 15.
Artículo en Inglés | MEDLINE | ID: mdl-35717739

RESUMEN

METHODS: Twenty patients with newly diagnosed neurosarcoidosis were examined for multiple outcomes in an observational cohort study with 12-month follow-up. RESULTS: The patients' contrast-enhancing lesions on MRI scans reduced during treatment (p < 0.0001). The mean modified Rankin Score improved from 3.0 to 1.8 (p < 0.0001), and 75% of patients experienced clinically important improvement. Patients improved on the Symbol Digit Modalities Test (p < 0.0001) and on SF-36 Physical (p = 0.003) and Mental Component Summary scores (p = 0.03). Proportions of patients with substantial fatigue (75%) and high depression score (35%) were unchanged. CONCLUSIONS: 12-month immunosuppression improved several outcomes, and 75% of patients experienced clinically important improvement.


Asunto(s)
Enfermedades del Sistema Nervioso Central , Enfermedades del Sistema Nervioso Central/diagnóstico por imagen , Estudios de Seguimiento , Humanos , Pruebas Neuropsicológicas , Estudios Prospectivos , Sarcoidosis
19.
J Neuroinflammation ; 19(1): 118, 2022 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-35610647

RESUMEN

BACKGROUND: The transient receptor potential vanilloid 1 (TRPV1) participates in thermosensation and inflammatory pain, but its immunomodulatory mechanisms remain enigmatic. N-Oleoyl dopamine (OLDA), an endovanilloid and endocannabinoid, is a TRPV1 agonist that is produced in the central nervous system and the peripheral nervous system. We studied the anti-inflammatory effects and TRPV1-dependent mechanisms of OLDA in models of inflammation and sepsis. METHODS: Mice were challenged intratracheally or intravenously with LPS, or intratracheally with S. aureus to induce pneumonia and sepsis, and then were treated intravenously with OLDA. Endpoints included plasma cytokines, leukocyte activation marker expression, mouse sepsis scores, lung histopathology, and bacterial counts. The role of TRPV1 in the effects of OLDA was determined using Trpv1-/- mice, and mice with TRPV1 knockdown pan-neuronally, in peripheral nervous system neurons, or in myeloid cells. Circulating monocytes/macrophages were depleted using clodronate to determine their role in the anti-inflammatory effects of OLDA in endotoxemic mice. Levels of exogenous OLDA, and of endovanilloids and endocannabinoids, at baseline and in endotoxemic mice, were determined by LC-MS/MS. RESULTS: OLDA administration caused an early anti-inflammatory response in endotoxemic and septic mice with high serum levels of IL-10 and decreased levels of pro-inflammatory cytokines. OLDA also reduced lung injury and improved mouse sepsis scores. Blood and lung bacterial counts were comparable between OLDA- and carrier-treated mice with S. aureus pneumonia. OLDA's effects were reversed in mice with pan-neuronal TRPV1 knockdown, but not with TRPV1 knockdown in peripheral nervous system neurons or myeloid cells. Depletion of monocytes/macrophages reversed the IL-10 upregulation by OLDA in endotoxemic mice. Brain and blood levels of endovanilloids and endocannabinoids were increased in endotoxemic mice. CONCLUSIONS: OLDA has strong anti-inflammatory actions in mice with endotoxemia or S. aureus pneumonia. Prior studies focused on the role of peripheral nervous system TRPV1 in modulating inflammation and pneumonia. Our results suggest that TRPV1-expressing central nervous system neurons also regulate inflammatory responses to endotoxemia and infection. Our study reveals a neuro-immune reflex that during acute inflammation is engaged proximally by OLDA acting on neuronal TRPV1, and through a multicellular network that requires circulating monocytes/macrophages, leads to the systemic production of IL-10.


Asunto(s)
Endotoxemia , Sepsis , Animales , Sistema Nervioso Central/metabolismo , Cromatografía Liquida , Citocinas/metabolismo , Dopamina/metabolismo , Endocannabinoides , Endotoxemia/inducido químicamente , Endotoxemia/tratamiento farmacológico , Inflamación/metabolismo , Interleucina-10/metabolismo , Lipopolisacáridos/toxicidad , Ratones , Sepsis/tratamiento farmacológico , Staphylococcus aureus , Canales Catiónicos TRPV/metabolismo , Espectrometría de Masas en Tándem
20.
BMJ Case Rep ; 15(4)2022 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-35414575

RESUMEN

Periventricular nodular heterotopia (PVNH) is an X-linked disease caused by loss-of-function variants in the filamin A (FLNA) gene. FLNA-PVNH is a heterogeneous disorder, and the phenotype is associated with neurological and non-neurological features including cardiovascular, gastrointestinal, pulmonary, haematological, cutaneous and skeletal manifestations. No clear definition of the FLNA-PVNH phenotype has been established, but the patients are predominantly females with seizures, cardiovascular manifestations, and normal intelligence or mild intellectual disability. Herein, we describe a PVNH patient diagnosed with a novel heterozygous missense variant in FLNA after an atypical presentation of deep vein thrombosis and thrombocytopenia. Clinical evaluation found hypermobility, cardiovascular and skin manifestations. Moreover, we conducted a literature review of 186 FLNA-PVNH patients to describe the phenotypic spectrum. In conclusion, our patient highlights the importance of thorough clinical evaluation to identify manifestations in this very heterogeneous disorder. The phenotypic review may guide clinicians in the assessment and follow-up of FLNA-PVNH patients.


Asunto(s)
Heterotopia Nodular Periventricular , Trombocitopenia , Femenino , Filaminas/genética , Humanos , Mutación , Heterotopia Nodular Periventricular/complicaciones , Heterotopia Nodular Periventricular/diagnóstico , Heterotopia Nodular Periventricular/genética , Fenotipo , Trombocitopenia/complicaciones
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