Nemaline myopathy: Histological,histochemical and ultrastructural studies

Summary Histological, histochemical and ultrastructural studies were performed on muscle biopsies from three siblings with congenital nemaline myopathy. Histological studies revealed type I fibre atrophy and type II fibre paucity. Ultrastructural studies of intramuscular nerves showed that the axonal diameters were very narrow compared with the width of myelin lamellae. Granular or membranous osmiophilic material occurred in the adaxonal Schwann cell cytoplasm and had a periodicity of 33–38Å. The neuromuscular junctions showed degenerative features such as glycogen granules or myelin figures in 27.1% of total terminal axons. The secondary synaptic clefts were markedly decreased in number and short in length. Myotendinous junction-like structures were found in 5.5% of the muscle fibres near the neuromuscular junctions, and often near sites of fibre-splitting. Rods in nemaline myopathy might be caused as a result of longitudinal splitting and disruption of fibres due to deficient regeneration of the muscle fibres associated with neurotrophic abnormalities.     

A case of non-metastatic giant mucinous carcinoma of the breast

A surgically resected case of giant mucinous carcinoma of the breast that had remained untreated for 2 years is reported. A 64-year-old postmenopausal woman presented with a large right breast mass (17.4 x 16.5 x 14.5 cm). Although she had noticed a mass in the right breast 2 years previously, she had not sought treatment. Mucinous carcinoma was diagnosed by core needle biopsy and she underwent right modified radical mastectomy with a free skin graft. There were no lymph node metastases or distant metastases. Fourteen months postoperatively, she remains well without evidence of tumor recurrence. Although several reports have suggested that pure mucinous carcinoma of the breast has a favorable prognosis, we need to follow this case until the clinical behavior and the outcome become clear.     

Cerebral hemodynamics and metabolism in adult moyamoya disease: Comparison of angiographic collateral circulation

PURPOSE: The extent of the hemodynamic and metabolic impairments in adult patients with moyamoya disease is still controversial. The aim of the present study was to evaluate the hemodynamic and metabolic status in relation to the development of basal moyamoya vessels (BMVs). METHODS: The cerebral blood flow (CBF), cerebral metabolic rate of oxygen (CMRO2), oxygen extraction fraction (OEF), and cerebral blood volume (CBV) were measured using PET in ten patients with ischemic adult moyamoya disease (mean age, 36.6 years) and six age-matched normal controls (mean age, 33.3 years). The cerebrovascular reserve (CVR) after acetazolamide (ACZ) loading was also estimated using iodine-123 N-isopropyl-p-iodo amphetamine single photon emission computed tomography (123I-IMP SPECT). RESULTS: Based on the angiographic findings, eleven cerebral hemispheres with well-developed BMV (extensive BMV hemispheres) and nine cerebral hemispheres with diminished BMV (diminished BMV hemispheres) were identified. The main routes of collateral circulation in extensive BMV hemispheres were BMVs and leptomeningeal anastomoses. On the other hand, in diminished BMV hemispheres, transdural anastomosis was predominant, and leptomeningeal anastomoses were less developed. In cortices distal to the occluded internal carotid artery, the extensive BMV hemispheres exhibited a significantly lower CBF, CMRO2, CBF/CBV, and CVR (p < 0.05) and a significantly higher CBV and OEF than in diminished BMV hemispheres and controls (p < 0.05). Except for the CBF in the white matter, the mean hemodynamic and metabolic parameters of the diminished BMV hemispheres were not significantly different from those of the controls. CONCLUSION: The extensive development of basal moyamoya vessels is a sign of severe hemodynamic impairment in adult patients with ischemic moyamoya disease. The results may not apply to adults with hemorrhagic onset.     

Cortical processing of tactile language in a postlingually deaf-blind subject

We compared neural activation detected by magnetoencephalography (MEG) during tactile presentation of words and non-words in a postlingually deaf-blind subject and six normal volunteers. The left postcentral gyrus, bilateral inferior frontal gyri, left posterior temporal lobe, right anterior temporal lobe, bilateral middle occipital gyri were activated when tactile words were presented to the right hand of the deaf-blind subject. This set of activated regions was not observed in the normal volunteers, although activation of several combinations of these regions was detected. Positron emission tomography confirmed the location of the MEG-activated areas in the deaf-blind subject. Our results demonstrated that the deaf-blind subject is heavily involved in interpreting tactile language by enhancing cortical activation of cognitive and semantic processing.     

Delusions of Japanese patients with Alzheimer's disease

BACKGROUND: Delusions constitute one of the most prominent psychiatric complications in Alzheimer's disease (AD). However, there is little consensus of the prevalence and associated factors for delusions in AD. AIMS: To reveal the characteristics of delusions among Japanese patients with AD. METHOD: 112 consecutive patients with AD were recruited over a one year period and administered the Neuropsychiatric Inventory (NPI). RESULTS: Delusions were present in 53 patients (47.3%). Delusions of theft were the most common type of delusion (75.5% of patients with delusions), followed by misidentification delusions and delusions of suspicion. More hallucination, agitation, and female gender were found in the delusions group. CONCLUSIONS: The authors found a high frequency of delusions, particularly of delusions of theft and suggested that gender was associated with the expression of delusions in Japanese patients with AD.     

Development of HER2-antagonistic peptides as novel anti-breast cancer drugs by in silico methods.

An antagonistic peptide called HRAP that binds to the human HER2 molecule was designed by our computational method. In silico docking study demonstrated the specific interaction of HRAP with the dimerization domain in the HER2 molecule. Interestingly, HRAP inhibited proliferation of HER2-overexpressed human breast cancer cell lines. However, it had little cellular cytotoxicity (apoptosis inducibility). The cell proliferation inhibition was associated with the suppression of phosphorylation of PTEN and Akt. Thus, HRAP is the first HER2-binding small peptide antagonist rationally designed by a computer-aided SBDD method and is useful for the development of peptide mimetics to generate novel anti-breast cancer drugs.     

Sonographic evaluation of the anterior liver surface in chronic liver diseases using a 7.5-MHz annular-array transducer: correlation with laparoscopic and histopathologic findings

PURPOSE: We studied the sonographic appearance of the anterior liver surface using an ultrasound scanner equipped with a 7.5-MHz annular-array transducer to determine the accuracy of this imaging modality in monitoring the course of chronic liver diseases. METHODS: We prospectively evaluated patterns of the liver surface in the sonograms of 77 consecutive patients with chronic liver diseases who had undergone sonographic examination with a 7.5-MHz annular-array transducer and a 3.75-MHz convex-array transducer over a 2-year period and compared these findings with those of laparoscopy (using previously described categories) and histopathology. RESULTS: Histopathologically confirmed disease prevalences for inactive chronic hepatitis, active chronic hepatitis, liver cirrhosis, and others were 10% (8/77), 56% (43/77), 29% (22/77), and 5% (4/77), respectively. The sonographic appearance of the liver surface with the 3.75-MHz transducer was classified as either a regular or an irregular pattern. The regular pattern corresponded to 69% (34/50) of the cases in laparoscopic category 200 or 300 and the irregular pattern with 85% (23/27) of the cases in category 400 or 500. The sonographic appearance of the liver surface with the 7.5-MHz transducer was classified as regular, unevenly irregular, diffusely irregular, or nodular. These 4 patterns detected 75% (24/32), 78% (14/18), 52% (12/23), and 75% (3/4) of the cases of laparoscopic categories 200, 300, 400, and 500, respectively. In a comparison of the sonographic patterns of the liver surface with the differential histopathologic findings, the regular sonographic pattern corresponded to 88% (7/8) of the cases of inactive chronic hepatitis, the unevenly irregular pattern with 35% (15/43) of the cases of active chronic hepatitis, and the diffusely irregular and nodular patterns (considered as 1 group) with 68% (15/22) of the cases of liver cirrhosis. CONCLUSIONS: Our results suggest that sonographic evaluation of the liver surface with a 7.5-MHz annular-array transducer using this classification provides detailed information on the evolution of chronic liver diseases that correlates with the laparoscopic and histopathologic findings and thus is a useful noninvasive method for monitoring the disease course to cirrhosis.     

Central Lymph Node Metastasis in Gastric Cancer Is Predictive of Survival After Preoperative Therapy

Background

It is unclear how preoperative therapy for gastric cancer affects the metastasis rate of lymph nodes (LNs) and whether the location of positive LNs affects survival after preoperative therapy. Therefore, we determined the association between positive central lymph nodes (CnLNs) and disease stage and overall survival (OS).

Methods

We reviewed a prospectively maintained database to identify patients who had undergone resection of gastric adenocarcinoma at our institution from 2005 to 2015. CnLNs were defined as common hepatic, celiac, and proximal splenic artery LNs (stations no. 8, 9, and 11p). The frequency of CnLN metastases and risk factors affecting OS were examined.

Results

We identified 356 patients. Preoperative therapy was administered to 66% of patients. D2 LN dissection was performed in 80% of patients, and the median number of LNs examined was 25 (IQR, 18–34). In 243 patients (68%), CnLNs had undergone separate pathologic examination; the CnLN-positive rate was 9.1% (22 of 243; station no. 8, 4.5%; no. 9, 2.1%; and no. 11p, 4.8%). CnLN metastasis was associated with shorter 3-year OS in patients with pN2/3 disease (33 vs. 62%; p?=?0.004). Among patients who had undergone preoperative therapy, ypT3–4 stage (HR 2.44; p?=?0.01) and positive CnLNs (HR 5.44; p?<?0.001) were negatively associated with OS by multivariate analysis.

Conclusions

CnLN metastases are uncommon in gastric cancer and have an adverse effect on OS in patients who have undergone preoperative therapy. Larger multi-institutional studies are needed to determine whether CnLN positivity requires a separate staging category after preoperative therapy.