A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures

Generalised (genetic) epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with various phenotypes. The majority of individuals with GEFS+ have generalised seizure types, in addition to febrile seizures (FS) or febrile seizures plus (FS+), defined as either continued FS after 6 years of age or afebrile seizures following FS. A 27‐year‐old man with no history of FS/FS+ experienced intractable generalised convulsive seizures. The patient's father had a history of similar seizures during puberty and the patient's siblings had only FS. No individual in the family had both generalised seizures and FS/FS+, although GEFS+ might be considered to be present in the family. Analysis of SCN1A, a sodium channel gene, revealed a novel mutation (c.3250A>T [S1084C]) in the cytoplasmic loop 2 of SCN1A in both the patient and his father. Most previously reported SCN1A mutations in GEFS+ patients are located in the conserved homologous domains of SCN1A, whereas mutations in the cytoplasmic loops are very rare. SCN1A gene analysis is not commonly performed in subjects with generalised seizures without FS. SCN1A mutation may be a clinically‐useful genetic marker in order to distinguish GEFS+ patients from those with classic idiopathic generalised epilepsy, even if they present an atypical clinical picture.     

Laparoscopic Versus Open Multivisceral Resection for Primary Colorectal Cancer: Comparison of Perioperative Outcomes

Background

The role of laparoscopic surgery for locally advanced colorectal cancer invading or adhering to neighboring organs is controversial. This study evaluated the safety and feasibility of laparoscopic multivisceral resection for colorectal cancer.

Methods

This study included 126 patients who underwent multivisceral resection for primary colorectal cancer invading or adhering to neighboring organs or structures between July 2005 and November 2012 at our institution. Perioperative outcomes were compared between laparoscopic and open resections.

Results

Laparoscopic and open multivisceral resections were performed in 60 and 66 patients, respectively. Conversion to open surgery occurred in 6.7 % of patients. The median operative time was significantly longer (271 vs. 227 min), but the median blood loss was significantly less (40 vs. 205 mL), in the laparoscopic compared with the open group. The R0 resection rate of the primary tumor (95 vs. 98.5 %), number of lymph nodes harvested (18 vs. 18), and postoperative complications (28 vs. 24 %) were comparable between the groups. The median length of hospital stay was significantly shorter (13.5 vs. 18 days) in the laparoscopic compared with the open group.

Conclusions

Laparoscopic multivisceral resection for colorectal cancer invading or adhering to neighboring organs is safe and feasible in selected patients.     

Frontal nonconvulsive status epilepticus manifesting somatic hallucinations

Somatic hallucinations are subjective experience of false, strange sensations of things occurring in or to the body. They can be seen in psychotic disorders, but have not been well described as an ictal psychosis in patients with nonconvulsive status epilepticus (NCSE) of frontal origin. We reported a 69-year-old woman who had NCSE of frontal origin manifesting prolonged somatic hallucinations mimicking a psychiatric disorder and initially treated as such. Ictal EEG revealed the frontal focus and ictal single-photon emission computed tomography (SPECT) showed the activation, not only in the frontal area but also in the parietal area as the projected regions, both of which might be associated with the development of her symptoms. She also had two generalized tonic-chronic seizures out of psychosis. Her psychosis and ictal rhythmic discharges on EEG ceased with valproate and she has since remained free from the symptoms. The current case suggests that long-lasting somatic hallucinations could be an ictal psychosis in frontal NCSE and thus an EEG study is needed for an early diagnosis and treatment.     

The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa

Usher syndrome is a frequent cause of the combination of deafness and blindness due to retinitis pigmentosa (RP). Five genes are known to underlie different forms of Usher syndrome type I (USH1). In the Ashkenazi Jewish population, the R245X mutation of the PCDH15 gene may be the most common cause of USH1 (Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RK, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB N Engl J Med 348: 1664-1670, 2003). To estimate what percentage of Ashkenazi Jewish children born with profound hearing loss will develop RP due to R245X, we examined the prevalence of the R245X PCDH15 mutation and its carrier rate among Ashkenazi Jews in Israel. Among probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 (GJB2) and/or connexin 30 (GJB6), and below the age of 10, 2 of 20 (10%) were homozygous for the R245X mutation. Among older nonsyndromic deaf individuals, no homozygotes were detected, although one individual was heterozygous for R245X. The carrier rate of the R245X mutation among the normal hearing Ashkenazi population in Israel was estimated at 1%. Ashkenazi Jewish children with profound prelingual hearing loss should be evaluated for the R245X PCDH15 mutation and undergo ophthalmologic evaluation to determine whether they will develop RP. Rehabilitation can then begin before loss of vision. Early use of cochlear implants in such cases may rescue these individuals from a dual neurosensory deficit.     

Calcium Responsive Bioerodible Drug Delivery System

Pharmaceutical Research -     

Relative contribution of lean and fat mass component to bone mineral density in males

 We investigated the relative contribution of lean body mass (LBM) and body fat mass to bone mineral density (BMD) in 93 healthy Japanese male volunteers (mean age, 33.1 ± 6.9 years; range, 18–54 years). Age, height (Ht), weight (Wt), and body mass index (BMI, Wt/Ht²) were recorded. Body fat mass, percentage of body fat, body fat mass/Ht², LBM, LBM/Wt, LBM/Ht², and lumbar spine (L2–L4) and total body BMD (TBBMD) were measured by dual-energy X-ray absorptiometry. On the Pearson correlation test, LBM was positively correlated with L2–L4 BMD. LBM, LBM/Wt, and LBM/Ht² were positively correlated with TBBMD. However, body fat mass and body fat mass/Ht² were not correlated with lumbar spine and total body BMD. On the partial correlation test, LBM was still correlated with lumbar spine (r = 0.307, P < 0.05) and total body BMD (r = 0.545, P < 0.0001), irrespective of age and height, whereas body fat mass was not correlated with BMD of these sites (r = −0.069 and −0.169, respectively). We concluded that, in males, LBM is one of the significant determinants of BMD whereas body fat mass is a negligible BMD determinant. Received: February 15, 2002 / Accepted: July 5, 2002 Offprint requests to: T. Douchi     

Synergistic effect of modified pore and heterojunction of MOF-derived α-Fe2O3/ZnO for superior photocatalytic degradation of methylene blue

Mesoporous heterojunction MOF-derived α-Fe₂O₃/ZnO composites were prepared by a simple calcination of α-Fe₂O₃/ZIF-8 as a sacrificial template. The optical properties confirm that coupling of both the modified pore and the n–n heterojunction effectively reduces the possibility of photoinduced charge carrier recombination under irradiation. The mesoporous Fe(25)ZnO with 25% loading of α-Fe₂O₃ exhibited the best performance in MB degradation, up to ∼100% after 150 minutes irradiation, higher than that of pristine ZnO and α-Fe₂O₃. Furthermore, after three cycles reusability, mesoporous Fe(25)ZnO still showed an excellent stability performance of up to 95.42% for degradation of MB. The proposed photocatalytic mechanism of mesoporous Fe(25)ZnO for the degradation of MB corresponds to the n–n heterojunction system. This study provides a valuable reference for preparing mesoporous MOF-derived metal oxides with an n–n heterojunction system to enhance MB photodegradation.

Mesoporous heterojunction MOF-derived α-Fe₂O₃/ZnO composites were prepared by a simple calcination of α-Fe₂O₃/ZIF-8 as a sacrificial template.