RESUMEN
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.
Asunto(s)
Fosfatidilinositol 3-Quinasa Clase I/genética , Fosfatidilinositol 3-Quinasa Clase Ia/genética , Síndromes de Inmunodeficiencia/inmunología , Mutación/genética , Toxoplasma/fisiología , Toxoplasmosis Congénita/inmunología , Adulto , Anticuerpos Antiprotozoarios/sangre , Niño , Femenino , Humanos , Inmunidad Materno-Adquirida , Síndromes de Inmunodeficiencia/diagnóstico , Síndromes de Inmunodeficiencia/genética , Lactante , Linfadenopatía , Madres , Fenotipo , Toxoplasmosis Congénita/diagnóstico , Toxoplasmosis Congénita/genéticaRESUMEN
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.
RESUMEN
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.
Asunto(s)
Piperazinas/efectos adversos , Síndrome de la Serotonina/inducido químicamente , Serotonina/metabolismo , Tiazoles/efectos adversos , Tramadol/efectos adversos , Anciano , Analgésicos Opioides/efectos adversos , Analgésicos Opioides/uso terapéutico , Antipsicóticos/efectos adversos , Antipsicóticos/farmacología , Antipsicóticos/uso terapéutico , Trastorno Bipolar/tratamiento farmacológico , Estimulación Encefálica Profunda/métodos , Interacciones Farmacológicas , Humanos , Masculino , Enfermedad de Parkinson/terapia , Piperazinas/farmacología , Piperazinas/uso terapéutico , Tiazoles/farmacología , Tiazoles/uso terapéutico , Tramadol/farmacología , Tramadol/uso terapéuticoRESUMEN
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.