A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity

The 2q23.1 deletion syndrome has been recently recognized as a neurodevelopmental disorder associated with intellectual disability, epilepsy, and autism spectrum disorder. Recently, methyl‐CpG‐binding domain 5 gene (MBD5), located in the 2q23.1 region, has been considered as a single causative gene of this syndrome. We report on a female patient with a de novo reciprocal translocation between chromosomes 2 and 5. Chromosomal microarray testing revealed a cryptic 896 kb deletion that included MBD5. Although clinical manifestations of this patient are compatible with those of patients with 2q23.1 deletion syndrome, a focal pachygyria revealed by brain magnetic resonance imaging has never been observed in the previously reported cases. Obesity caused by hyperphagia was observed in our patient and 28% of the previously reported patients with the 2q23.1 deletion syndrome. For better medical management, appropriate dietary guidance against hyperphagia should be given to the patients' family. © 2013 Wiley Periodicals, Inc.     

Mattress anastomosis in micro vascular reconstruction: technical note

Background

Superficial temporal artery-to-middle cerebral artery (STA-MCA) anastomosis is a common procedure for neurosurgeons. The surgery necessarily requires accurate and speedy manipulation of microscope, for which a specific training is needed. Unexpected bypass occlusion sometimes happen during surgery.

Objective

Generally, conventional interrupted or continuous suture has been used for vascular anastomosis, despite various ideas have been attempted in the other surgery fields. We propose a horizontal mattress suture technique for intracranial microvascular bypass surgery. This is the first report ever published on intracranial vascular anastomosis.

Methods

We had four patients of STA-MCA bypass surgery with “mattress anastomosis” from March to May of 2012.

Results

During the procedure, there was no bypass occlusion and good patency was confirmed in all cases.

Conclusion

Intimae of the recipient and the donor blood vessel contact each other precisely with this technique. Although a long-term assessment of patency is needed, it is useful for the intracranial bypass surgery.     

A recommendation on the basis of long-term follow-up resultsof our microvascular decompression operation for hemifacial spasm

Background

Microvascular decompression (MVD) for hemifacial spasm (HFS) has been popular, but it may take enough time to master this special operative technique and procedure. This may induce uneven distribution of the number of MVD operations in each institute, possibly resulting in an overall unsatisfactory quality of MVD surgeons. Nakanishi’s approach to MVD operations has the feature of using a, “supine, no retractor” technique, which would achieve various benefits for patients and medical professionals. We would like to recommend this approach for MVD surgeons on the basis of our follow-up outcomes.

Methods

A questionnaire, which was based on the method of evaluation for the long-term results of post-MVD operation as recommended by the Japanese Society of MVD, was sent by mail to the 154 HFS patients who had received Nakanishi’s approach at our hospital.

Results

Except for 42 patients who had changed their residences, 89 patients (79.5 % of 112) fully answered. The mean postoperative follow-up term was 13.0 years. The 76.4 % of the patients was estimated as excellent. Postoperative deafness was not present. The average value of satisfaction degree for the results of the MVD operation was 87.9 %.

Conclusions

This study revealed that Nakanishi’s approach produced good results equivalent of other approaches for HFS patients. This approach is considered to have many advantages comparing to the other approaches. Therefore, we would like to recommend that Nakanishi’s approach would contribute to overall advancement of the level of MVD surgeons.     

Lymphomatoidgastropathy mimicking extranodal NK/T cell lymphoma, nasal type: a case report

Extranodal natural killer (NK)/T-cell lymphoma, nasal type, exhibits aggressive tumor behavior and carries a poor prognosis. Recently, lymphomatoid gastropathy with NK/T cell infiltration into gastric mucosa has been recognized as a pseudo-malignant disease which regresses without treatment. Because the conventional immunohistochemical criteria of lymphomatoid gastropathy is similar to that of extranodal NK/T-cell lymphoma nasal type, it is difficult to distinguish between the two conditions by histopathological evaluation only. Here, we report a rare case of lymphomatoid gastropathy in a 57-year-old female. Gastroendoscopy on routine check-up revealed elevated reddish lesions < 1 cm in diameter in the gastric fornix and body. Although repeat endoscopies at 1 and 6 mo later revealed no gastric lesions at any locations without any treatments, at 12 mo later gastric lymphomatoid lesions recurred at gastric fornix and body. Histological examination of endoscopic biopsy specimens at 12 mo showed atypical NK cell infiltration with CD3⁺, CD4^-, CD5^-, CD7⁺, CD8^-, CD20^-, CD30^-, CD56⁺, CD79a^- and T-cell-restricted intracellular antigen-1⁺ into gastric mucosa. After treatment for Helicobacter pylori (H. pylori) eradication, the lesions disappeared in all locations of the gastric fornix and body over the subsequent 12 mo. Here, we report a case of H. pylori-positive lymphomatoid gastropathy with massive NK-cell proliferation, and also review the literature concerning newly identified lymphomatoid gastropathy based on comparison of extra nodal NK/T-cell lymphoma nasal type. In any case, these lesions are evaluated with biopsy specimens, the possibility of this benign entity should be considered, and excessive treatment should be carefully avoided. Close follow-up for this case of lymphomatoid gastropathy is necessary to exclude any underlying malignancy.     

Ultrasound-guided infraclavicular axillary vein puncture is effective to avoid pinch-off syndrome: a long-term follow-up study

Purpose

Pinch-off syndrome (POS) is a serious complication encountered during the long-term management of totally implantable access ports (TIAPs). The aim of this study was to examine the effect of ultrasound-guided infraclavicular axillary vein puncture to avoid POS in patients with long-term use of a TIAP.

Methods

This was a retrospective review of 207 consecutive TIAPs: one hundred devices implanted using an anatomical landmark technique were used as historical controls (Landmark group), while 107 devices were implanted using an ultrasound (US)-guided puncture method (US group). The pinch-off grade (POG) was determined using chest X-ray findings following the definition of Hinke, and the progression of POG during the follow-up period of the Landmark and US groups was compared.

Results

Sixteen cases in the Landmark group were POG-1 and 3 were POG-2, while all cases in the US group were POG-0 at the time of venipuncture (p < 0.001). Eleven patients in the Landmark group showed some degree of progression of the POG during the follow-up period. In contrast, there were no cases showing progression of the POG in the US group (p = 0.002).

Conclusions

US-guided infraclavicular axillary vein puncture was found to effectively make it possible to avoid POS for the long-term management of TIAPs, as well as at the time of implantation.     

New Surgical Approach to Large Splenorenal Shunt in Living Donor Liver Transplantation: Diversion of SMV and SPV Blood Flow

Introduction

The management of a large splenorenal shunt is important because it affects recipient outcome, particularly in living donor liver transplantation.

Methods

To manage large splenorenal shunts in living donor liver transplantation, we diverted superior mesenteric vein and splenic portal vein blood flow by ligation at the root of the splenic portal vein.

Result

This procedure was applied for five patients in whom superior mesenteric vein blood flow had been completely stolen by a splenorenal shunt preoperatively. Postoperative course was excellent in all cases.

Conclusion

This technique completely prevents morbidity related to large splenorenal shunts after living donor liver transplantation.     

A comparison of stress relaxation in temporary and permanent luting cements

PurposeThe stress relaxation and compressive strength of resin, resin-modified glass ionomer, glass ionomer, polycarboxylate, and zinc oxide eugenol cements were measured to determine the characteristics of these materials after setting.MethodsA total of 19 luting cements including 12 permanent cements and 7 temporary cements were used. Cylindrical cement specimens (10 mm long and 6 mm in diameter) were obtained by chemical setting or light curing. The specimens were stored for 24–36 h in water at 37 °C and were then used for the stress relaxation and compression tests. The stress relaxation test was carried out using three constant cross-head speeds of 5, 50, and 100 mm/min. Upon reaching the preset dislocation of 0.5 mm, the cross-head movement was stopped, and the load was recorded for 60 s. Fractional stress loss at 1 s was calculated from the relaxation curves. The compressive strength and modulus were measured at a cross-head speed of 1 mm/min. Data were analyzed with the Kruskal–Wallis test and Holm's test.ResultsA zinc oxide eugenol cement [TempBOND NX] exhibited the largest fractional stress loss. A resin cement [ResiCem] showed the largest compressive strength, while a glass ionomer cement [HY-BOND GLASIONOMER CX] showed the largest compressive modulus among all tested cements (p < 0.05).ConclusionThe fractional stress loss could not be classified by the cement type. Two implant cements [Multilink Implant and IP Temp Cement] showed similar properties with permanent resin cements and temporary glass ionomer cements, respectively. Careful consideration of the choice of cement is necessary.     

Genetic analysis of PRRT2 for benign infantile epilepsy,infantile convulsions with choreoathetosis syndrome,and benign convulsions with mild gastroenteritis

Purpose: PRRT2 mutations were recently identified in benign familial infantile epilepsy (BFIE) and infantile convulsions with paroxysmal choreoathetosis (ICCA) but no abnormalities have so far been identified in their phenotypically similar seizure disorder of benign convulsions with mild gastroenteritis (CwG), while mutations in KCNQ2 and KCNQ3 have been recognized in benign familial neonatal epilepsy (BFNE). The aim of this study was to identify PRRT2 mutations in infantile convulsions in Asian families with BFIE and ICCA, CwG and BFNE. Methods: We recruited 26 unrelated Japanese affected with either BFIE or non-familial benign infantile seizures and their families, including three families with ICCA. A total of 17 Japanese and Taiwanese with CwG, 50 Japanese with BFNE and 96 healthy volunteers were also recruited. Mutations of PRRT2 were sought using direct sequencing. Results: Heterozygous truncation mutation (c.649dupC) was identified in 15 of 26 individuals with benign infantile epilepsy (52.1%). All three families of ICCA harbored the same mutation (100%). Another novel mutation (c.1012+2dupT) was found in the proband of a family with BFIE. However, no PRRT2 mutation was found in either CwG or BFNE. Conclusions: The results confirm that c.649dupC, a truncating mutation of PRRT2, is a hotspot mutation resulting in BFIE or ICCA regardless of the ethnic background. In contrast, PRRT2 mutations do not seem to be associated with CwG or BFNE. Screening for PRRT2 mutation might be useful in early-stage differentiation of BFIE from CwG.     

The effect of <Emphasis Type="Italic">Clostridium butyricum</Emphasis> MIYAIRI on the prevention of pouchitis and alteration of the microbiota profile in patients with ulcerative colitis

Purpose

Ulcerative colitis (UC) is a chronic, relapsing, and refractory disorder of the intestine. Total proctocolectomy with ileal pouch anal anastomosis (IPAA) is the preferred and standard surgical procedure for patients’ refractory to medical therapy. Pouchitis is one of the most common long-term complications after IPAA. In the present study, the safety and efficacy of Clostridium butyricum MIYAIRI (CBM) as a probiotic were examined.

Methods

A randomized and placebo-controlled study was performed. Seventeen patients were recruited from 2007 to 2013. Nine tablets of MIYA-BM^® or placebo were orally administered once daily. The cumulative pouchitis-free survival, pouch condition (using the modified pouch disease activity index), and blood parameters were evaluated. A fecal sample analysis was also performed.

Results

Subjects were randomly allocated to receive MIYA-BM or placebo (9 and 8 subjects, respectively). One subject in the MIYA-BM group and four subjects in the placebo group developed pouchitis. No side effects occurred in either group. Characteristic intestinal flora was observed in each group.

Conclusions

Our results suggest that probiotic therapy with CBM achieved favorable results with minimal side effects and might be a useful complementary therapy for the prevention of pouchitis in patients with UC who have undergone IPAA.

     

Clinical significance of small, dense LDL cholesterol in patients with hyperlipidemia and type 2 diabetes

We investigated the serum levels of small, dense LDL-cholesterol (sd LDL-C) in patients with hyperlipidemia and type 2 diabetes. An analytical assay was used to determine the levels of sd LDL-C, employing a filter method using a separating agent of polyanion and divalent cation natures. Reference intervals of sd LDL-C in normal healthy subjects (n=113) ranged from 8.0 to 42.0 mg/dl. We found a strong correlation between the levels of sd LDL-C and both the ratio of LDL-C/apolipoprotein B and the LDL migration index. The LDL migration index was analyzed using polyacrylamide gel disk electrophoresis. The levels of sd LDL-C in patients with types IIa, IIb and IV hyperlipidemia were significantly higher than those in normal subjects and in patients with normal lipidemia. The levels of sd LDL-C in patients with type IIb were higher than those with types IIa and VI. Examination of patients with polydisperse LDL showed that the levels of nodular and disrupted type sd LDL-C were higher than the levels of symmetry type sd LDL-C. Moreover, the levels of sd LDL-C in patients with type 2 diabetes were higher than those in normal subjects. A high level of sd LDL-C in patients with type 2 diabetes was found to be an indicator of possible complications of hyperlipidemia and lessly related to glycemic control. Therefore, the determination of sd LDL-C levels can be useful in the diagnosis of patients with hyperlipidemia and polydisperse LDL and in patients with type 2 diabetes with complications of hyperlipidemia and atherosclerosis.