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1.
Clin Neuropathol ; 41(1): 6-11, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34542400

RESUMO

Subependymal giant cell astrocytoma (SEGA) is the characteristic benign, slow-growing brain tumor seen in tuberous sclerosis (TS). There are several case reports of a diagnosis of SEGA in patients with no clinical or radiological diagnosis of TS. However, there is limited literature describing the tumor genetics in such cases. We report a case of a 17-year-old girl who was diagnosed with SEGA bearing the TSC2 mutation, while testing negative for TSC mutations on germline testing. We also did a literature review of studies that reported the genetics behind solitary SEGAs. Genetic testing of both the tumor itself and germline genetic testing can provide valuable information with clinical implications, for example, the basis for the need of close surveillance in TS patients.


Assuntos
Astrocitoma , Neoplasias Encefálicas , Esclerose Tuberosa , Adolescente , Astrocitoma/diagnóstico , Astrocitoma/genética , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/genética , Feminino , Humanos , Mutação , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética
2.
Clin Pediatr (Phila) ; 61(2): 188-193, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34859714

RESUMO

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has a wide pediatric clinical spectrum. Initial reports suggested that children had milder symptoms compared with adults; then diagnosis of multisystem inflammatory syndrome in children (MIS-C) emerged. We performed a retrospective cohort study of hospitalized patients at a children's hospital over 1 year. Our objectives were to study the demographic and clinical profile of pediatric SARS-CoV-2-associated diagnoses. Based on the clinical syndrome, patients were classified into coronavirus disease 2019 (COVID-19; non-MIS-C) and MIS-C cohorts. Among those who tested positive, 67% were symptomatic. MIS-C was diagnosed in 24 patients. Both diagnoses were more frequent in Caucasians. Both cohorts had different symptom profiles. Inflammatory markers were several-fold higher in MIS-C patients. These patients had critical care needs and longer hospital stays. More COVID-19 patients had respiratory complications, while MIS-C cohort saw cardiovascular involvement. Health care awareness of both syndromes is important for early recognition, diagnosis, and prompt treatment.


Assuntos
COVID-19/complicações , COVID-19/fisiopatologia , Síndrome , Adolescente , COVID-19/classificação , COVID-19/epidemiologia , Criança , Pré-Escolar , China/epidemiologia , Estudos de Coortes , Feminino , Humanos , Masculino , Estudos Retrospectivos , Síndrome de Resposta Inflamatória Sistêmica/classificação , Síndrome de Resposta Inflamatória Sistêmica/epidemiologia , Síndrome de Resposta Inflamatória Sistêmica/fisiopatologia
3.
J Ark Med Soc ; 105(7): 163-5, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19170334

RESUMO

The ACH Medical Home Program serves as a comprehensive, multi-discipline clinic and program designed to facilitate comprehensive, coordinated care to the most medically complex and fragile children in Arkansas. In partnership with the family, the PCP and the subspecialty physicians, the program strives to ensure that the ideals of providing the "medical home" are accomplished, both in the community and at Arkansas Children's Hospital. An ongoing evaluation process has been implemented and it is the hope and mission of this program to evolve to provide the highest quality of care and highest quality of life for these children with complex medical conditions and for their families. Referrals and inquiries are welcomed and encouraged and can be made at (501) 364-3030.


Assuntos
Serviços de Saúde da Criança/organização & administração , Doença Crônica , Serviços de Assistência Domiciliar/organização & administração , Hospitais Pediátricos/organização & administração , Ambulatório Hospitalar/organização & administração , Arkansas , Criança , Humanos , Avaliação de Programas e Projetos de Saúde
4.
Arch Pediatr Adolesc Med ; 165(5): 392-8, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21300650

RESUMO

OBJECTIVE: To evaluate the effect on all state Medicaid costs of a children's hospital-based multidisciplinary clinic that provides comprehensive and coordinated care for medically complex children. DESIGN: Before-after intervention study. Patients' health care costs for up to 1 year before enrollment in the clinic were compared with patients' health care costs for up to 1 year after enrollment in the clinic. Patients were enrolled in our study from August 2006 to May 2008. SETTING: Tertiary care children's hospital in a rural state. PARTICIPANTS: A total of 225 medically complex children who had at least 2 chronic medical conditions and who were followed up by at least 2 pediatric subspecialists. INTERVENTION: Multidisciplinary teams ensure that each patient receives all the necessary medical, nutritional, and developmental care and that there is improved coordination of care with primary care providers, subspecialists, hospitalists, and community-based services. MAIN OUTCOME MEASURES: Using Arkansas Medicaid claims data, we examined the medical costs for all outpatient, inpatient, emergency department, and prescription drug claims. Costs were calculated on a per month per patient basis and summarized for annual costs. RESULTS: The mean annual cost per patient per month decreased by $1766 for inpatient care (P < .001) and by $6.00 for emergency department care (P < .001). Although the cost per patient per month for outpatient claims (P < .05) and prescriptions (P < .001) increased, the overall cost to Medicaid per patient per month decreased by $1179 (P < .001). CONCLUSIONS: This hospital-based multidisciplinary clinic resulted in a significant decrease in total Medicaid costs for medically complex children.


Assuntos
Assistência Ambulatorial/economia , Criança com Deficiência Intelectual , Redução de Custos , Medicaid/economia , Equipe de Assistência ao Paciente/organização & administração , Arkansas , Pré-Escolar , Doença Crônica , Estudos de Coortes , Análise Custo-Benefício , Feminino , Custos de Cuidados de Saúde , Hospitais Pediátricos/organização & administração , Humanos , Lactente , Masculino , Análise Multivariada , Avaliação de Resultados em Cuidados de Saúde , População Rural , Estados Unidos
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