Prenatal molecular diagnosis of X‐linked hydrocephalus via a silent C924T mutation in the L1CAM gene

We present a case of a patient whose L1CAM gene in X‐chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X‐linked hydrocephalus (XLH) was suspected. The DNA examination revealed that both her and boy's LICAM gene had a C924T transition. She became pregnant 5 years later and amniocentesis was performed. The results of cytogenetic analysis revealed that the fetus was female. She continued her pregnancy and delivered a healthy girl. She again became pregnant 3 years later. The chromosomal analysis revealed that the fetus was male. Fetal DNA analysis determined that the fetus had the inherited mutation. She chose to terminate the pregnancy. A C924T mutation can be disease causing for XLH, and the detection of this mutation would aid in genetic counseling for the prenatal diagnosis of XLH.     

Basal insulin requirement in patients with type 1 diabetes depends on the age and body mass index

Aims/IntroductionTo investigate the basal insulin requirement in patients with type 1 diabetes who are on multiple daily injections (MDI) and to assess the patient characteristics that affect the percent of total daily basal insulin dose to the total daily insulin dose (%TBD/TDD).Materials and MethodsThe subjects of this study were 67 inpatients with type 1 diabetes who were served diabetic meals of 25–30 kcal/kg standard body weight during several weeks of hospitalization. The basal insulin requirement was adjusted to keep the blood glucose level from bedtime to before breakfast within a 30 mg/dL difference. The bolus insulin dose before the meal was adjusted to keep the blood glucose level below 140 and 200 mg/dL before and 2 h after each meal, respectively. The total daily insulin dose (TDD), the percent of total daily basal insulin dose (TBD) to TDD (%TBD/TDD), and clinical characteristics were collected.ResultsThe median (Q1, Q3) of TDD was 33.0 (26.0, 49.0) units, and the %TBD/TDD was 24.1 ± 9.8%. The %TBD/TDD was positively correlated with the body mass index (BMI) and negatively correlated with the age at the onset and at the examination according to a univariate analysis. However, the %TBD/TDD was dependent on the BMI (β = 0.340, P = 0.004) and the age at examination (β = −0.288, P = 0.012) according to the multiple regression analysis.ConclusionsThe average %TBD/TDD in patients with type 1 diabetes on MDI was approximately 24% under inpatient conditions. The basal insulin requirement was dependent on the BMI and the age at examination.     

Detection of myelin basic protein in cerebrospinal fluid

Radioimmunoassay for myelin basic protein in cerebrospinal fluid is commonly used as a biochemical marker of demyelination in multiple sclerosis patients. A sensitive enzyme-linked immunosorbent assay for myelin basic protein has been recently developed, which can make a clinical evaluation of myelin basic protein in cerebrospinal fluid of patients with multiple sclerosis and other neurological diseases. Most multiple sclerosis patients with acute exacerbation had markedly high myelin basic protein. Longitudinal studies of multiple sclerosis patients showed that myelin basic protein in CSF increases rapidly in agreement with acute relapse and then rapidly declines and disappears. Significantly higher cerebrospinal fluid myelin basic protein levels in human T-cell lymphotropic virus Type I-associated myelopathy/tropical spastic paraparesis patients were also detected. This enzyme-linked immunosorbent assay system can be used routinely to measure myelin basic protein in cerebrospinal fluid as a useful diagnostic indicator, not only for central active demyelination as in multiple sclerosis but, also for spinal cord demyelination as in human T-cell lymphotropic virus Type I-associated myelopathy/tropical spastic paraparesis.     

Three-dimensional blood flow analysis in a wide-necked internal carotid artery-ophthalmic artery aneurysm

OBJECT: The aim of this study was to evaluate axial and secondary flow structures in a wide-necked internal carotid artery-ophthalmic artery aneurysm, one of the most common locations for endovascular coil placement. METHODS: A clear acrylic aneurysm model was manufactured from a three-dimensional computerized tomography angiogram. Intraaneurysm blood flow analysis was conducted using an acrylic aneurysm model together with laser Doppler velocimetry and particle imaging velocimetry. The maximal axial blood flow velocities in the inflow and outflow zones at the aneurysm orifice were noted at the peak systolic phase, measuring 46.8 and 24.9% of that in the parent artery, respectively. The mean size of the inflow zone during one cardiac cycle was 44.3 +/- 9.8% (range 35.6-58.7%) the size of the axial section at the aneurysm orifice. In the lower and upper planes of the aneurysm dome, the mean size of inward and outward flow areas were 43.3 +/- 6.7% and 43.8 +/- 6.8% the size of the axial cross-sectional plane, respectively. The axial flow velocity structures were dynamically altered throughout the cardiac cycle, particularly at the aneurysm orifice. The fastest secondary flow at the opening was also noted at the peak systolic and early diastolic phases. Axial blood flow velocity was slower in the upper axial plane of the aneurysm dome than in the lower one. Conversely, the secondary flow component was faster in the upper plane. CONCLUSIONS: The side-wall aneurysm in this study did not demonstrate a simple flow pattern as was previously seen in ideally shaped experimental aneurysms in vitro and in vivo. The flow patterns of inflow and outflow zones were very difficult to predict based on the limited flow information provided on standard digital subtraction angiography, even in an aneurysm with a relatively simple dome shape.     

Epidemic nosocomial keratoconjunctivitis caused by adenovirus type 4

PURPOSE: To evaluate the clinical features of nosocomial epidemic keratoconjunctivitis(EKC) occurring in the ophthalmology ward of Sapporo Medical University Hospital and to devise preventive measures for it. MATERIALS AND METHODS: We studied the symptoms and clinical course of 2 patients who had EKC and 16 patients who had EKC caused by nosocomial infections in our hospital. We attempted to detect adenovirus antigen and viral DNA from conjunctival swabs and also to isolate the virus. RESULTS: The clinical symptoms of EKC were conjunctival hyperemia in 18 patients(100%), conjunctival follicles in 11 patients (61.1%), discharge in 8 patients(44.4%), superficial punctate keratopathy in 7 patients(38.9%), swelling of the eyelids in 3 patients(16.7%), and fever in 3 patients(16.7%). 72% were positive for Adeno-check. Adenovirus type 4 was isolated from the conjunctival swabs. We considered that the route of hospital infection was infection from the doctor's hands, from eye drops, and from contact lenses. We disclosed that nosocomical EKC had occurred in our hospital. The hospital infection was eliminated by closing the ophthalmology ward and sterilizing instruments and washing hands. CONCLUSIONS: The delay of proper measures increased the risk of nosocomical infection. We recognized the importance of careful observation of patients and immediate preventive efforts in nosocomical infection.