Case Reports on Effect of Intratympanic Steroid Injection Therapy on Late-Onset Hearing Loss in Congenital Cytomegalovirus Infection.

BACKGROUND: One of the conditions or symptoms caused by congenital cytomegalovirus (cCMV) infection is late-onset hearing loss. This report examines the cases of two children exhibiting late-onset hearing loss after cCMV infection who showed improvement in hearing after undergoing intratympanic steroid injection therapy (IST). CASES: Case1 is girl aged 8 years and 10 months and case2 is girl aged 5 years and 1 month. Cytomegalovirus (CMV) was not detected in the blood or urine of either child at the time of hearing loss despite them having cCMV infection. FINDINGS: The hearing of both children improved as a result of IST on an outpatient basis. Case1 was given first session of IST in left ear immediately on the day of her visit and second session of IST in left ear 2 days later. Tendency for improvement in threshold on left side was observed (the differences were about 20 to 45 dB). Case2 was given a total of 2 sessions of IST on left ear, 3 days and 5 days after visiting the hospital. The test result of distortion product otoacoustic emissions changed from refer to pass. Tendency for improvement in threshold on left side was observed (the differences were about 5 to 25 dB). CONCLUSIONS: Bearing in mind that late-onset hearing loss in patients with cCMV may be caused by other factors besides CMV, consideration of IST as a possible treatment option is proposed.

Afebrile Kawasaki disease with coronary artery dilatation.

Herein we describe the cases of two afebrile patients who were thought to have Kawasaki disease (KD). Patient 1 was a 7-month-old-Japanese girl. She presented with bulbar conjunctival injection, diarrhea, skin erythema, and redness around the bacillus Calmette-Guerin (BCG) inoculation site. Thirteen days after the first symptoms, ultrasonic cardiogram (UCG) showed dilatations of the bilateral coronary arteries (CA). The dilatations had completely resolved 5 months later. Patient 2 was a 13-month-old Japanese boy. He first presented with bulbar conjunctival injection and redness around the BCG inoculation site. Twenty-two days after the first symptoms, UCG indicated bilateral and peripheral CA dilatations. The mild dilatations of the proximal CA remained. Although fever is the principal symptom of KD, some incomplete KD patients may be afebrile. Although it is difficult to diagnose these patients as having KD, redness at the BCG inoculation site may be a clue to the diagnosis.

Serum 25(OH)D and vitamin K1 levels in patients with severe motor and intellectual disability: A Japanese single-center experience.

PURPOSE: To investigate whether patients with severe motor and intellectual disability (SMID) have nutritional vitamin D and K insufficiencies and clarify the required vitamin supplementation. METHODS: This prospective observational study enrolled Japanese adults with SMID receiving institutionalized care who underwent blood sampling between February 2020 and February 2022 during annual medical checkups. Serum vitamin K1 and 25-hydroxy vitamin D (25(OH)D) levels were measured to determine their relationship with serum uncarboxylated osteocalcin (ucOC) levels. Vitamin D and K intake was compared among tube-fed and oral-intake patients with SMID and control participants using corresponding serum levels. RESULTS: The study included 124 patients with SMID (56 men and 68 women; mean age: 53.0 years) and 20 control participants. Serum 25(OH)D levels were significantly higher in the SMID group than in the control group and the oral intake SMID group than in the tube-fed SMID group. In the tube-fed SMID group, vitamin D intake was lower than the daily recommended intake and correlated with serum 25(OH)D levels. Daily vitamin K intake in the tube-fed group was lower than recommended but not correlated with serum vitamin K levels. Serum ucOC levels were significantly higher in the SMID group than in the control group. Tube feeding was significantly and positively correlated with serum 25(OH)D levels. Serum 25(OH)D levels were not correlated with serum vitamin K1 levels. CONCLUSIONS: The SMID group had higher ucOC levels than the control group, possibly owing to daily vitamin K and D deficiencies. Vitamin D supplementation is recommended to decrease ucOC levels.

Case of cytomegalovirus-associated direct anti-globulin test-negative autoimmune hemolytic anemia.

A 1-year-old boy developed autoimmune hemolytic anemia after a negative direct anti-globulin test. The concentration of erythrocyte membrane-associated immunoglobulin G, determined using an immunoradiometric assay, correlated with disease activity. He was positive for cytomegalovirus (CMV) both serologically and by quantitative real-time polymerase chain reaction, indicating that his autoimmune hemolytic anemia was directly caused by CMV infection. Since anti-CMV immunoglobulin G was not absorbed by the patient's erythrocytes, cross-reaction between erythrocyte antigens and CMV was not likely a causative factor for hemolysis.

Asymmetric polymerizations of chiral 4-benzyl-2-ethynyloxazoline with rhodium catalyst and chiroptical properties of the polymers.

Optically active 4-alkyl-2-ethynyloxazoline derivatives (BnEOx) were polymerized with rhodium catalysts. The polymerization in toluene produced polymer with the highest absolute values of specific rotation ([α](D) = -77.3°). The yields, molecular weights, and specific rotations of poly(BnEOx)s were influenced by polymerization conditions. The copolymerization with phenylacetylene (PA) was effective to increase the molecular weight of the copolymer. It is interesting to note that the copolymers exhibited positive specific rotations ([α](D) = +4.7° to +62.5°) despite the fact that [α](D) s of BnEOx and the homopolymer are negative sign. The chiroptical properties were investigated by the chiral/achiral copolymerization of BnEOx with PA. The copolymerizations of BnEOx with PA gave copolymers containing higher order structure such as one-handed helical conformation. Furthermore, induced Cotton effects were observed in the π-π* transition region of conjugated main chain depending a complex of these polymers with zinc triflate salt in tetrahydrofuran solution, indicating the formation of chiral supramolecular aggregates.

Bone quality in adults with severe motor and intellectual disabilities.

OBJECTIVE: To determine bone quality in adults with severe motor and intellectual disabilities. DESIGN: A retrospective cohort study. PATIENTS: Bone quality of 60 patients with severe motor and intellectual disabilities (28 men, 32 women; mean age 57 years) at a long-term care facility for adults was examined retrospectively. METHODS: Quantitative ultrasonography was used to measure the stiffness index, T-score and Z-score of the calcaneus. A multiple linear regression model, including sex, age, anti-epileptic drug use, tube-feeding status, and current and peak physical abil-ities, was used to identify significant predictors of T-scores. RESULTS: Quantitative ultrasonography revealed that all patients had lower bone quality (based on T-scores, Z-scores, and stiffness index), and all patients had T-scores with standard deviations (SD) below 1.8. Current physical ability, age, and anti-epileptic drug use were significant factors in T-score determination, while tube-feeding and peak physical ability were not. The ability to walk without assistance was the most significant predictor in quantitative ultrasonography. CONCLUSION: Severely low bone quality is observed in patients with severe motor and intellectual disabilities; and it is strongly associated with current physical activity. It is important that patients with severe motor and intellectual disabilities preserve their physical abilities to prevent osteoporosis-related fractures.

Vitamins K and D deficiency in severe motor and intellectually disabled patients.

OBJECTIVES: We aimed to determine serum 25-hydroxyvitamin D (25(OH)D) and undercarboxylated osteocalcin (ucOC) levels in severe motor and intellectual disabilities (SMID) patients and their association with bone turnover biomarkers. METHODS: We assessed vitamin D and K levels as indicators of osteoporosis in institutionalized adults with SMID. From December 2019 to February 2020, 93 institutionalized patients (48 men, 45 women; median age, 49 years) underwent annual routine examinations. Serum ucOC, 25(OH)D, bone-specific alkaline phosphatase (BAP), and tartrate-resistant acid phosphatase A 5b (TRACP-5b) levels as bone formation and resorption markers and calcium and phosphorous levels were measured. Vitamin K deficiency was indirectly assessed based on ucOC levels. RESULTS: Mean ucOC levels were higher than normal (i.e., vitamin K deficiency). Serum 25(OH)D levels were markedly diminished. Overall, 86% of patients had deficient 25(OH)D levels. These 25(OH)D-deficient patients had higher ucOC levels. Multiple linear regression analysis revealed an inverse correlation between 25(OH)D and ucOC levels. ucOC levels were significantly higher and 25(OH)D levels were significantly lower in tube feeding. TRACP-5b levels were significantly higher in elderly than in young women. BAP and TRACP-5b levels were normal in adults. No relationship existed between vitamin D and antiepileptic drug use. CONCLUSIONS: Vitamin K and D co-deficiency was common in SMID patients. Vitamin K and D deficiencies were worse in tube-fed patients than in oral intake patients. SMID patients should undergo regular monitoring of vitamin D and K levels and supplementation of these vitamins.

Acute encephalopathy with human parvovirus B19 infection in hereditary spherocytosis.

A 9-year-old girl with hereditary spherocytosis developed aplastic crisis and encephalopathy associated with human parvovirus B19 (PVB19) infection. During the clinical course, we followed PVB19 DNA in her plasma and cerebrospinal fluid by real-time polymerase chain reaction and found that her symptoms of encephalopathy had occurred at the peak viral load. PVB19-associated encephalopathy might occur as a result of direct invasion by PVB19.

Determination of the deletion breakpoints in two patients with contiguous gene syndrome encompassing CYBB gene.

X-linked chronic granulomatous disease is a primary immunodeficiency caused by mutations in CYBB. Although large deletions involving CYBB are known to cause contiguous gene syndrome (CGS), only a few patients have been studied precisely at the molecular levels. Our study determined the deletion breakpoints in two patients with CGS involving CYBB by array comparative genomic hybridization and the following PCR and DNA walking studies. The deletion size was 3.5 Mb in Patient 1 and 0.8 Mb in Patient 2. There were no homologous architectural features between the telomeric and centromeric breakpoint junctions in the deletions of either patient. However, the telomeric breakpoint of Patient 2 was embedded in a stretch of low-copy repeats and the centromeric breakpoint was also embedded in a stretch of short segments with significant sequence homology. These findings suggest the potential involvement of genome architecture in stimulating genomic rearrangements in Patient 2.