Evaluation of cardiac function during KCl-induced paralytic attack in the patients with normokalemic periodic paralysis

Some reports have been written about hypokalemic periodic paralysis dealing with cardiac dysfunction and arrhythmia during the paralytic attack. However, no reports have been written about the cardiac function during the attack in cases of normokalemic periodic paralysis. So, we investigated cardiac function in two patients with normokalemic periodic paralysis. A 3.0 g dose of KCl was administered orally to the patients (1 male, 1 female) and 10 healthy volunteers (5 males, 5 females). Cardiac function by using ejection time (ET)/pre-ejection period (PEP), grasping power, and the level of plasma catecholamine were measured during the paralytic attack. Changes in the patients were compared with those in the volunteers. Next, a 3.0 g dose of KCl was administered to the patient, followed by intravenous dosing of 10% NaCl (50 ml) after which ET/PEP and grasping power measured. Lastly, a 60 mg dose of diltiazem, a 10 mg dose of nifedipine or a 80 mg dose of verapamil were administered, followed by a 3.0 g dose of KCl after which ET/PEP and grasping power were measured again. Thirty minutes after the administration of KCl, the grasping power decreased remarkably, from 32.0 kg to 17.0 kg in the male patient and from 30.0 kg to 20.0 kg in the female patient. By contrast, the ET/PEP showed a clear increase, from 3.47 to 6.17 in the male patient and from 2.84 to 5.45 in the female patient. Grasping power of the volunteers, however, did not change remarkably (avg. 40.3 kg before vs. 40.9 kg after in the males and avg. 26.9 kg before vs. 26.0 kg after in the females) and ET/PEP of the volunteers did not change remarkably (avg. 3.37 before vs. 3.17 after in the males and avg. 3.30 before vs. 3.43 after in the females). No significant changes were found in the levels of plasma catecholamine during the paralytic attack.(ABSTRACT TRUNCATED AT 250 WORDS)     

Effects of total parenteral nutrition with nucleoside and nucleotide mixture on D-galactosamine-induced liver injury in rats

The effect of a nucleoside-nucleotide mixture on liver injury of rats induced by D-galactosamine was studied by examining changes in function and histopathology of the liver. Animals with liver damage received total parenteral nutrition with glucose and amino acids supplemented with a nucleoside-nucleotide mixture containing inosine, cytidine, GMP, uridine and thymidine, or with uridine which inhibits galactosamine injury, or with liver cell extract containing flavin adenine dinucleotide and nucleic acid derivatives. As control, animals with liver damage received total parenteral nutrition with glucose and amino acids only. The serum GOT and GPT concentrations were significantly lower in the group supplemented with nucleoside-nucleotide mixture than those in other groups. A large dose (1.2 g/kg) of uridine inhibited liver injury, but a lower dose (0.14 g/kg) did not have any effect, whereas nucleoside-nucleotide mixture containing the same amount of uridine inhibited the injury. Liver cell extract also did not improve liver function. Thus infusion of a physiological and balanced mixture of nucleosides or nucleotides may improve liver function in rats with liver injury.     

Day-Night Variation of Urine Volume in Parkinson's Disease

Abstract: Studies on the circadian rhythm of urine excretion in healthy men have demonstrated that the maximal urine flow occurs in the early afternoon and the minimal around midnight. In this study, an abnormality in the variation of urine volume was found in parkinsonian patients. Urine samples were collected during daytime (9:00–21:00) and nighttime (21:00–9:00). Fifteen healthy control subjects were examined and found to excrete 60% during the daytime and 40% during the nighttime of the total urine volume. Sixteen parkinsonian patients excreted 43% during the daytime and 57% during the nighttime. In contrast to the control subjects, the parkinsonian patients excreted a smaller volume of their urine during the daytime than during the nighttime. This finding might be related to the degeneration of dopaminergic and/or nondopaminergic neurons in the brain which control urinary excretion.     

Periosteal osteosarcoma of the femur with bone marrow involvement: A case report

Periosteal osteosarcoma is an exceedingly rare type of chondroblastic osteosarcoma, showing rather better prognosis, and secondary bone marrow involvement is unusual. A case of a 22 year old male with periosteal osteosarcoma of the right femur with an associated bone marrow lesion is presented. The juxtacortical tumor, 16 ×11 × 9 cm, was located on the bone cortex of the upper diaphysis and extended into the surrounding soft tissues. A minimal bone marrow lesion was present, although the bone cortex was quite intact. Microscopically, the tumor consisted exclusively of atypical chondroblastic cells with a small osteoblastic area. The bone marrow lesion, interestingly, contained both multiple nodules of well-differentiated chondrosarcomatous components and a few demarcated foci of atypical spindle cells producing a fine osteoid matrix. It was reasonable to conclude, therefore, that this tumor was a periosteal osteosarcoma with an unusual secondary bone marrow lesion rather than a conventional (central) chondroblastic osteosarcoma with soft tissue invasion. The patients good prognosis with no tumor recurrence or metastasis during more than 7 years follow-up after surgery supports this conclusion.     

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.     

Pure red cell aplasia and myasthenia gravis with thymoma: a case report and review of the literature

A case of pure red cell aplasia (PRCA), myasthenia gravis (MG) and thymoma is reported. A 70-year-old woman presented with severe anemia. She had been diagnosed as having MG 8 years earlier and her symptoms were adequately controlled with ambenonium chloride. When she visited our hospital, her hematocrit was 13.7% with a hemoglobin concentration of 4.7 g/dl and her reticulocyte counts were persistently abnormal at 0.1%. Although both direct and indirect Coombs' tests were positive, there was no evidence of hemolysis. Routine screening tests for other etiologies of anemia were negative. Serological tests for anti-DNA and anti-acetylcholine receptor antibodies gave positive results. A bone marrow examination revealed severe erythroid hypoplasia. PRCA was diagnosed and the patient was treated with periodic transfusions. A lateral view chest roentgenogram and a computed tomography scan of the thorax showed the presence of an anterior mediastinal mass which was suspected to be thymoma. The patient underwent thymothymectomy and the tumor was diagnosed as a thymoma. Although the patient received no treatment for MG and PRCA after surgery, her hematological test results rapidly improved and she was discharged from the hospital on the 29th postoperative day. At that time, her hematocrit was 33.2%, her hemoglobin concentration was 10.0 g/dl, her peripheral reticulocyte level was 1.8% and her left partial ptosis had improved. She is doing well, 9 months after surgery. For a patient to remain in remission without treatment for PRCA and MG after thymothymectomy is extremely rare.      

Congenital Cytomegalovirus Infection in Children with Autism Spectrum Disorder: Systematic Review and Meta-Analysis

Association of congenital cytomegalovirus (CMV) infection with autism spectral disorder (ASD) has been suggested since 1980s. Despite the observed association, its role as a risk factor for ASD remains to be defined. In the present review, we systematically evaluated the available evidence associating congenital CMV infection with ASD using PubMed, Web of Science, Cochrane Library, and Embase databases. Any studies on children with CMV infection and ASD were evaluated for eligibility and three observational studies were included in meta-analysis. Although a high prevalence of congenital CMV infection in ASD cases (OR 11.31, 95% CI 3.07–41.66) was indicated, too few events (0–2 events) in all included studies imposed serious limitations. There is urgent need for further studies to clarify this issue.