ABSTRACT
Objective To study the gene mutations and clinical features of mandibuloacral dysplasia with type A lipodystrophy (MADA) in a Chinese family. Methods The information of 5 family members including 2 siblings suspected atyp-ical progeria was assembled. Genomic DNA was extracted from peripheral blood of 5 family members, the 12 exons of LMNA gene were ampliifed by PCR and then the PCR products were directly sequenced and analyzed by using Blast software online. The SIFT and PolyPhen-2 software were used to predict the harmfulness of mutations. Results The 2 siblings were clinically diagnosed as MADA. Heterozygous c.1579C>T (p.Arg527Cys) and c.1583C>T (p.Thr528Met) mutations were detected in this family. The father carried c.1583C>T (p.Thr528Met) mutation, the mother carried c.1579C>T (p.Arg527Cys) mutation, and their normal daughter were all heterozygous carriers with c.1583C>T (p.Thr528Met) mutation. Compound heterozygous c.1579C>T (p.Arg527Cys) and c.1583C>T (p.Thr528Met) mutations in 2 siblings led to MADA. The MADA showed an autosomal re-cessive inheritance pattern in this family. Conclusions The 2 siblings with MADA in this family were caused by compound heterozygous mutations in LMNA gene.
ABSTRACT
Objective To analysis the long-term retention rate of Levetiraceram (LEV) monotherapy or combination therapy of infant epilepsy. Methods The clinical data of patients with infant epilepsy treated by LEV had been retrospectively analyzed from July 2006 to June 2007. Results Sixty patients with infant epilepsy treated by LEV had been recruited, 20 cases with partial seizures, 19 cases with generalized seizures, 21 cases with epilepsy syndrome. Among them 21 cases was intractable epilepsy. The retention rates of LEV in 6-month, 1-year, 2-year, 3-year and 4-year were 95.5%, 75.0%, 60.0%, 51.7%, and 38.3%. The most common reason for withdrawal was lack of effect (43.2%). COX regression model suggested that duration>1 month (RR=2.91, 95%CI:1.16~7.30) and refractory epilepsy (RR=2.30, 95%CI:1.22~4.32) were risk factors of withdrawal (all P<0.05). After treatment, the seizure frequency signiifcantly reduced compared with baseline (P<0.01). To the end of the follow-up, the efifciency was 100%and the complete remission rate was 69.57%in 23 cases continued treatment. The main side effect were fatigue (56.0%), and sleep increased, irritability, and so on. Conclusions LEV monotherapy or combination therapy has well long-term retention rate, maintains well efifcacy and tolerability in infant epilepsy.