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- 저자 : ( Rakesh Tripathi ) (검색결과 2 건)
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Episodes of prolonged “trance-like state” in an infant with hypothalamic hamartoma
Rakesh Kumar,Jaivinder Yadav,Jitendra Kumar Sahu,Manjul Tripathi,Chirag Ahuja,Devi Dayal 대한소아내분비학회 2019 Annals of Pediatirc Endocrinology & Metabolism Vol.24 No.1
Hypothalamic hamartoma (HH) is one of the most common causes of central precocious puberty (CPP) in first few years of life. It can present with either seizures or CPP, although both manifestations coexist in the majority of the children. Gelastic seizures (GS), or laughing spells, are usually the first type of seizures seen in patients with HH. Although a wide variety of seizure types are known to occur in children with HH, GS are most common and consistent seizure type. The clinical presentation of HH may vary with the size and position of the mass, although large tumours typically present with both CPP and seizures. Although CPP can be managed with medical therapy, seizures can be very difficult to treat, even with multiple antiepileptic drugs. Noninvasive gamma knife surgery has been used with some success for the treatment of refractory epilepsy. We present a case of HH with very early onset seizures and CPP. The patient had an atypical form of seizures described by the parents as a "trance-like state" in which the patient had prolonged episodes of unresponsiveness lasting for hours with normal feedings during the episodes. GS occurred late in the course and were refractory to various combinations of antiepileptic drugs. A brain magnetic resonance imaging showed a large sessile HH (>20 mm). Later in the course of the disease, the patient experienced cognitive and behavioural problems. The patient underwent gamma knife surgery at nearly 5 years of age and experienced a modest response in seizure frequency. This case highlights the presentation of HH as a previously unreported seizure morphology described as a prolonged "trance-like state."
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( Christoph Sarrazin ),( Mark S. Sulkowski ),( Preethi Krishnan ),( Rakesh Tripathi ),( Gretja Schnell ),( Yan Xie ),( Daniel E. Cohen ),( Roger Trinh ),( Lino Rodrigues-jr. ),( Yan Luo3,Nancy S. Shul 대한간학회 2016 춘·추계 학술대회 (KASL) Vol.2016 No.1
Aims: The 3 direct-acting antiviral (3-DAA) regimen of ombitasvir, ritonavir-boosted paritaprevir and dasabuvir ± RBV is approved in the US and EU for treatment of hepatitis C virus (HCV) genotype (GT) 1 infection. Baseline resistance associated variants (RAVs) in HCV NS3 or NS5A can impact response to other DAA regimens; we assessed the prevalence and impact of RAVs on response to the 3-DAA regimen. Methods: Next-generation sequencing (Illumina MiSeq) assessed baseline samples from treatment-naive (PEARL-IV), -experienced (SAPPHIRE- II), or cirrhotic (TURQUOISE-II) GT1a patients who received 3-DAA + RBV, and treatment-experienced (PEARL-II) or cirrhotic (TURQUOISE-III) GT1b patients who received 3-DAA alone. Thresholds of 1 and 15%, respectively, detected the prevalence and impact of baseline RAVs; impact of RAVs conferring ≥ 5-fold resistance to components of the 3-DAA regimen on response was determined by com- paring SVR rates in patients with or without RAVs. Results: SVR rates were 96% and 100% in patients with GT1a and GT1b, respectively. One or more NS5A RAVs were present in 11% of treatment-experienced or cirrhotic GT1a patients, whereas NS5A RAVs were found in 19% of GT1b patients (15% threshold). Similar SVR rates were seen in GT1a patients with or without NS5A RAVs. All GT1b patients with NS5A RAVs, including at position Y93, achieved SVR. NS3 RAVs were uncommon (≤2%). NS3 RAVs were not seen in any of the 14 virologic failures and an NS5B RAV was seen in 1 virologic failure. The presence of the GT1a NS3 Q80K polymorphism had no impact on SVR. Conclusions: Understanding impact of baseline NS5A RAVs on treatment outcomes is important for relevant HCV therapies. Patients with HCV GT1a-infection treated with the 3-DAA regimen + RBV achieved high SVR rates, regardless of the presence of baseline RAVs. All GT1b patients treated with the 3-DAA regimen alone achieved SVR.
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