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1.
Front Immunol ; 10: 77, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30891027

RESUMO

Phosphoinositide 3-kinase (PI3K) plays an integral role in lymphocyte function. Mutations in PIK3CD and PIK3R1, encoding the PI3K p110δ and p85α subunits, respectively, cause increased PI3K activity and result in immunodeficiency with immune dysregulation. We describe here the first cases of disseminated and congenital toxoplasmosis in a mother and child who share a pathogenic mutation in PIK3R1 and review the mechanisms underlying susceptibility to severe Toxoplasma gondii infection in activated PI3Kδ syndrome (APDS) and in other forms of primary immunodeficiency.


Assuntos
Classe I de Fosfatidilinositol 3-Quinases/genética , Classe Ia de Fosfatidilinositol 3-Quinase/genética , Síndromes de Imunodeficiência/imunologia , Mutação/genética , Toxoplasma/fisiologia , Toxoplasmose Congênita/imunologia , Adulto , Anticorpos Antiprotozoários/sangue , Criança , Feminino , Humanos , Imunidade Materno-Adquirida , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Lactente , Linfadenopatia , Mães , Fenótipo , Toxoplasmose Congênita/diagnóstico , Toxoplasmose Congênita/genética
2.
ACG Case Rep J ; 2(2): 86-8, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26157922

RESUMO

Enteric duplication cysts (EDCs) are benign congenital anomalies that are found incidentally in adults. Gastric duplication cysts (GDCs) are the least common subtype of EDC, but when located near the pancreas, may resemble other neoplastic conditions. We report a case of GDC adjacent to the pancreas with high cystic fluid amylase and carcinoembryonic antigen (CEA) and 3 different epithelia (respiratory, gastric, and intestinal), all diagnosed via endoscopic ultrasound with fine-needle aspiration.

3.
Am J Ther ; 21(4): e97-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24158007

RESUMO

Serotonin syndrome (SS) is a life-threatening adverse reaction that can result from the therapeutic use of serotonergic drugs or accidental drug interactions. Tramadol is a drug that is widely prescribed because of its low abuse potential, but physicians need to be aware of its significant potential to cause SS because it inhibits serotonin reuptake. Ziprasidone is an atypical antipsychotic that can also cause dangerous interactions to cause SS because it is not only a potent 5-HT1A agonist but also has been reported to inhibit serotonin reuptake with an affinity similar to tricyclic antidepressants, in addition to inhibiting reuptake of norepinephrine. We are describing the clinical characteristics of a gentleman with bipolar disorder and Parkinson disease who presented with SS, despite having a deep brain stimulator in the subthalamic nucleus, which decreases central serotonin levels, and a discussion of the factors that contributed to his presentation.


Assuntos
Piperazinas/efeitos adversos , Síndrome da Serotonina/induzido quimicamente , Serotonina/metabolismo , Tiazóis/efeitos adversos , Tramadol/efeitos adversos , Idoso , Analgésicos Opioides/efeitos adversos , Analgésicos Opioides/uso terapêutico , Antipsicóticos/efeitos adversos , Antipsicóticos/farmacologia , Antipsicóticos/uso terapêutico , Transtorno Bipolar/tratamento farmacológico , Estimulação Encefálica Profunda/métodos , Interações Medicamentosas , Humanos , Masculino , Doença de Parkinson/terapia , Piperazinas/farmacologia , Piperazinas/uso terapêutico , Tiazóis/farmacologia , Tiazóis/uso terapêutico , Tramadol/farmacologia , Tramadol/uso terapêutico
4.
Emerg Med J ; 29(1): 28-31, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21183527

RESUMO

OBJECTIVE: The number of annual patient visits to US emergency departments (ED) has been increasing since 1995, whereas the number of ED is decreasing. Previous studies have identified many reasons why patients seek care in ED, including lack of access to care elsewhere, lack of insurance, inability to see their doctor in a timely manner and lower levels of social support. This study identifies factors that influence patients' decisions to seek care in ED and assesses their access to primary care. METHODS: A prospective study, conducted by standardised verbal interview with adult ED patients, was performed in the XXX ED during June-July 2009. Non-English speaking patients, the mentally incapacitated and those under severe distress were excluded. Consenting patients were asked a series of questions on access to primary care, factors that influenced their decision to attend the ED, health insurance status and demographic information. RESULTS: Among 292 study participants (89% response rate), the majority were over 40 years (52%), Caucasian (69%) and unemployed (58%). Among employed participants, 66% (N=88/133) of employers offered health insurance. Most participants had a primary care physician (PCP; 73%; N=214), but a minority had called their PCP about the current problem (31%; N=78/253). Most participants came to the ED because of convenience/location (41%) or preference for this institution (23%). Participants came to the ED, rather than their regular doctor, because they had no PCP (27%), an emergency condition (19%), or communication challenges (17%). CONCLUSION: Convenience, location, institutional preference and access to other physicians are common factors that influence patients' decisions to seek care in ED.


Assuntos
Serviço Hospitalar de Emergência/estatística & dados numéricos , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Adolescente , Adulto , Idoso , Escolaridade , Feminino , Hospitais Urbanos/estatística & dados numéricos , Humanos , Renda , Seguro Saúde/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estados Unidos , Adulto Jovem
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