Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1

Mucolipidosis type IV (MLIV) is an autosomal recessively inherited lysosomal storage disorder characterized by progressive psychomotor delay and retinal degeneration that is associated with biallelic variants in the MCOLN1 gene. The gene, which is expressed in late endosomes and lysosomes of various tissue cells, encodes the transient receptor potential channel mucolipin 1 consisting of six transmembrane domains. Here, we described 14‐year follow‐up observation of a 4‐year‐old Japanese male MLIV patient with a novel homozygous in‐frame deletion variant p.(F313del), which was identified by whole‐exome sequencing analysis. Neurological examination revealed progressive psychomotor delay, and atrophy of the corpus callosum and cerebellum was observed on brain magnetic resonance images. Ophthalmologically, corneal clouding has remained unchanged during the follow‐up period, whereas optic nerve pallor and retinal degenerative changes exhibited progressive disease courses. Light‐adapted electroretinography was non‐recordable. Transmission electron microscopy of granulocytes revealed characteristic concentric multiple lamellar structures and an electron‐dense inclusion in lysosomes. The in‐frame deletion variant was located within the second transmembrane domain, which is of putative functional importance for channel properties.     

Ultramicroassay of red cell group using Terasaki-plate

In order to simplify the testing-method of blood groups (ABO, Rh, MN, Ss, P, I, Lewis, Duffy, Kidd and Diego) and the assay of glycosyl transferases activity, we have developed a new method using Terasaki plate (T-plate method), and examined its usefulness in the routine examination. As results followings were obtained: 1) The sensitivity of T-plate method was equal or superior than that of the common method using test-tube. 2) Samples used for T-plate method were smaller in volume compared with those for the common tube test method. 3) The percent of coincidence between T-plate method and tube test method was 100% for ABO, Rh, MN, Ss, P, I, Duffy, Kidd and Diego grouping. They were 98% for Lewis(a) and 96% for Lewis(b) grouping, respectively. These results indicate the superiority of T-plate method than the common method using test-tubes in respects of smaller volume of samples, lower price and handling of a large amount of samples.     

Bloom''s syndrome with porokeratosis of Mibeili and multiple cancers of the skin, lung and colon

A 38-year-old Japanese male with Bloom's syndrome (BS) and porokeratosis of Mibelli (PM) developed multiple carcinomas of the skin and lung. There were multiple, spontaneous chromosomal aberrations and frequent sister chromatid exchanges (SCE). Cutaneous delayed-type hypersensitivity reactions were defective and serum IgM was decreased. The lung cancer was treated with radiation, which was effective but caused a severe pulmonary atelectasis and esophageal stricture. The patient expired one-and-a-half years later because of pneumonia. Autopsy disclosed an adenocarcinoma of the colon. The concurrent PM was considered responsible for the occurrence of multiple skin cancers.     

Converging patterns of inputs from oral structures in the postcentral somatosensory cortex of conscious macaque monkeys

Single neuronal activities were recorded in the oral region of the postcentral gyrus in conscious Japanese monkeys. Among 5,756 neurons isolated, receptive fields (RFs) and submodalities were identified in 1,502 neurons in area 3b, 970 in area 1, and 1,461 in area 2. The relative incidence of neurons that had bilateral RFs increased gradually upon moving caudally from area 3b to area 2 (bilateral integration). A total of 276 neurons had bimaxillary RFs covering both the maxillary and mandibular divisions of the trigeminal nerve, such as the upper and lower lips, upper and lower teeth, palate and tongue, or combinations thereof. There was also a tendency for the relative incidence of neurons with bimaxillary RFs to increase across the postcentral gyrus but with an abrupt change in area 2 (bimaxillary integration). A total of 382 neurons had composite RFs covering more than one of five oral structures: lip, cheek mucosa, teeth/gingiva, tongue, and palate. The relative incidence of neurons with composite RFs was significantly higher in area 2 than in areas 3b and 1 (interstructural integration). These results indicate that the convergence of inputs from oral structures proceeds in a hierarchical manner across the postcentral gyrus, but chiefly in area 2 for the bimaxillary and interstructural integrations. The relative incidence of neurons with composite RFs was higher among neurons associated with the teeth/gingiva or palate than among neurons associated with the tongue or lip in all three areas. We interpret this to mean that anatomical or functional differences between oral structures might be reflected in the converging patterns in the oral representation.     

Pre-operative higher hematocrit and lower total protein levels are independent risk factors for cerebral hyperperfusion syndrome after superficial temporal artery–middle cerebral artery anastomosis with pial synangiosis in adult moyamoya disease patients—case-control study

Neurosurgical Review - Superficial temporal artery (STA)–middle cerebral artery (MCA) anastomosis is a standard treatment for adult moyamoya disease (MMD) patients. Cerebral hyperperfusion...     

Association between central sensitivity syndrome and psychological factors in people with presurgical low back pain: A cross-sectional study

BackgroundLow back pain (LBP) is a major problem; it causes significant burden, incurs considerable economic and human costs, and adversely affects the quality of life (QoL). Central sensitivity syndrome (CSS) is known as a group of overlapping conditions that share a common pathophysiological mechanism of central sensitization. Previous studies have shown that CSS is present in several disorders. However, it has been studied for people with presurgical LBP. The purpose of the study was to investigate the proportion of patients with CSS for presurgical LBP and to analyse the association of CSS with clinical symptoms and psychological factors.MethodsData of demographics, the central sensitization inventory (CSI), psychological measures, clinical symptoms of 238 patients with presurgical LBP were evaluated. The patients were divided into two groups depending on the CSI scores (≥40 and < 40). The two groups were compared, and the correlation between the CSI scores and other outcomes was analysed. Furthermore, multiple regression analysis was performed to identify factors contributing to the CSI scores.Results13.0% of participants were CSS. All outcomes were significantly different between the groups and significant associations were found between the CSI scores and all other outcomes. In addition, Pain Catastrophizing Scale (PCS) was most significant associated scale for the CSI scores.ConclusionWe found that certain patients had CSS with presurgical LBP. The CSI scores were significantly associated with the majority of the factors. The PCS was the factor with the most influence on the CSI scores.     

Radioaerosol inhalation lung imaging using technegas

Technegas generator using 99mTc-pertechnetate was tested on 4 normal subjects and 31 patients with various chest diseases including bronchogenic carcinoma, pneumonia, pulmonary tuberculosis, sarcoidosis, and so on. Technegas was inhaled from the RV to the TLC levels through the mouth with the nose clipped followed by breath-holding. Three deep breaths were enough to deposit 37-55.5 MBq (1 to 1.5 mCi) of technegas in the lungs. The average alveolar deposition ratio (ALDR) was 85% and penetration of inhaled technegas to the lung periphery was excellent. "Hot spots" or excessive radioactive deposition were also seen when there was airway obstruction. The former indicated the characteristic as gas and the latter, that as aerosol particles. Because of the large ALDR's the timing for imaging lungs after inhalation of technegas most likely indicated the intrapulmonary sites of effective ventilation, because respective inhalation and perfusion lung images resembled each other very much. The disadvantage of technegas was that it was anoxic right after generation.     

Clinicopathological features of hereditary breast cancer

The possible role of germline mutations ofBRCA1 andBRCA2 as causative agents of familial breast cancer was assessed. Their possible involvement in the carcinogenesis of hereditary breast cancer was investigated using 63 clinically suspect families. Twenty-one lineages (33.3%) had mutations in one of the twoBRCA genes. This relatively low incidence suggested that germline mutations in unknown genes are involved in the carcinogenesis of hereditary breast cancer in the Japanese population. However, the clinicopathological features characteristic of hereditary breast cancer, such as early disease onset, a high incidence of bilateral breast cancer, and a high incidence of multiple primary carcinomas in other organs were confirmed in the present study.     

Hypofluorescent spots in indocyanine green angiography of peau d‘orange and fundus

Purpose. Hypofluorescent spots were seen inindocyanine green (ICG) angiography of peau dorangefundus in eyes with angioid streaks. Origin of the hypofluorescentspots were examined with attention to their correlationwith a peau dorange appearance of the central fundususing a computer-assisted image comparison system. Methods. ICG angiography was performed in 5 patientshaving peau dorange appearance of fundus using ascanning laser ophthalmoscope (SLO) and a digitalvideo-fundus camera. The same central fundus areas corresponding to hypofluorescent spots in an ICGangiogram were then digitally identified in afluorescein angiogram and in a red-free picture in all10 eyes of the 5 patients. Monochromatic lightobservation was also performed with a dark fieldobservation using a SLO to see subretinal orintrachoroidal pigment clumping. Results. In no patient, the areas identified withhypofluorescent spots did show relevant changes ina fluorescein angiogram or a red-free picture. SLOexamination revealed not perfusion defect at the sameareas. The dark field observation showed no pigmentclumping at the peripapillary and papillomacularbundle regions where hypofluorescent spots were seen.Conclusions: Hypofluorescent spots seen in ICGangiograms did not show exact consistency with peau dorange changes in their location and shape. Perfusion defects or blocking by pigments were not acause of hypofluorescent spots. The scatteredhypofluorescent spots were considered to be relevantwith irregular affinity of the fundus to ICG dye.