Cartilage-hair hypoplasia associated with IgG2 deficiency

We report on a 1 year old boy with cartilage-hair hypoplasia (CHH). He suffered from recurrent upper respiratory infections and short-limbed dwarfism. As with most patients with CHH, he had impaired cellular immunity as determined by lymphocyte reactivity. In addition, he had a selective IgG2 deficiency. This combination of immunodeficiencies has not previously been reported for patients with CHH. His recurrent upper respiratory infections were likely to be associated with cellular immunodeficiency and IgG2 deficiency.     

Spinal cord potential recordings from the extradural space during scoliosis surgery

For monitoring spinal cord functions during corrective surgeryof scoliosis, we have recorded percutaneously from the posteriorextradural space at the C5-7 levels the ascending conductedspinal cord potentials (ASCP) in response to extradural stimulationof the cauda equina in 134 patients. The ASCP consists of threespike-like components (C1, C2 and C3) followed by slow components.The extradurally recorded ASCP were not affected by anaestheticagents. There were no significant differential effects of spinaldistractions on each of the three spike potentials. There wereno post operative neurological abnormalities in patients whoseASCP showed no changes, amplitude increases, amplitude decreasesof less than 50% or latency increases (> 0.2 ms) during spinalmanipulations (no false negatives, but some false positives).Five patients who suffered postoperative neuro logical damageexhibited more than 50% changes in amplitude of the ASCP duringsurgery. All these neurological sequelae occurred in the first80 patients. In the last 54 patients, in whom the distractionforces on the spine were controlled rapidly by observation ofthe amplitude changes in ASCP, there were no postoperative neurologicalabnormalities, except for one patient in whom an accidentalspinal cord injury was produced by a hook. The results suggestthat the distraction force on the spine must be reduced immediatelywhen the amplitudes of the ASCP decrease by more than 50% ofcontrol values with or without latency increases.      

Influence of parental obesity on the physical constitution of preschool children in Japan

The objective of this study was to assess the influence of parental obesity on the physical constitution of preschool children. A total of 3187 children aged between 1–6 years and their parents were studied. A child whose per cent obesity (%OB; per cent overweight for age, height and sex) was greater than 15%, and a parent whose body mass index (BMI; kg/m²) was greater than the 95th percentile were defined to be obese (27.40 and 25.97 for a father and a mother, respectively). We found that the incidence of obesity in children with obese fathers (11.5%) was significantly higher than in those with non-obese fathers (6.2%), and a similar difference was obtained between children with obese mothers (14.5%) and with non-obese mothers (6.2%), respectively. The incidence of obesity in children was 6.0% if both parents were non-obese; this incidence rose to 22.7% if one parent was obese, and to 30.8% if both were obese. The %OB of children was more markedly correlated with the mothers' BMI (r = 0.219) than the fathers' BMI (r = 0.165). The %OB of children correlated significantly with fathers' BMI, but only from the age of 3–6 years, whereas mothers' BMI correlated from the age of 1–6 years. We concluded that parental obesity was of significance in determining the development of juvenile obesity even in the preschool period.     

Unique form of rickets with low serum 25-hydroxyvitamin D in two normally nourished children

We present an unusual type of rickets involving two children: a 2 year old boy and a 15 month old boy, who presented with marked bowing of the lower extremities and bulging of costochondral junctions. Both children had normal growth, with their height and body weight greater than the 50th and 97th percentile for age. Roentgenograms of their extremities showed the typical changes of vitamin D refractory rickets. Serum alkaline phosphatase levels were elevated and serum levels of calcium and phosphate were both within the normal range. No primary cause for the rickets, including nutritional deficiencies, was found in the two patients. Characteristic findings were persistently low serum 25-hydroxyvitamin D (25-OH-D) and normal 1,25-dihydroxyvitamin D (1,25-(OH)2-D). Improvements in clinical and X-ray findings were observed after either oral administration of 1 α-(OH)-D3 (9–15 μg per day) or massive vitamin D2 therapy (600 000 IU single injection). The low serum levels of 25-OH-D did not increase unless massive vitamin D2 therapy was also given. These two cases represent a unique form of rickets that does not meet the criteria for any type of previously known rickets.     

HLA-DQB1 allele associates with idiopathic nephrotic syndrome in Japanese children

HLA-DQA1 and -DQB1 genes were investigated in 30 Japanese children with idiopathic nephrotic syndrome (INS) using the polymerase chain reaction-restriction fragment length polymorphism method. Compared with control children, there was a significant increase in the HLA-DQA1 *0501, DQB1 *0301 and DQB1 *0601 alleles, whereas the frequency of DQB1 *0501 showed a significant decrease in the patients. The increase of DQA1 *0501 can be explained as being a result of a linkage disequilibrium with DQB1 *0301. The previous result demonstrating a positive association of DRw6 and DRw8 with INS is also assumed to be attributable to a linkage disequilibrium with DQB1 *0301 and 0601. A total of 83% of patients compared with 37% of controls possessed DQB1 *0301 and/or DQB1 *0601 allele (P < 0.001, RR = 8.6). Only these alleles have alanine at residue 13 and tyrosine at residue 26 in the hypervariable region in the β1 domain of DQB1 gene. These findings suggest that the unique amino acid residues in the DQB1 gene may contribute to disease susceptibility in Japanese children with INS.     

Prediction of engraftment after peripheral blood stem cell transplantation by CD34-positive cells in grafts

total of 91 peripheral blood stem cell collections were performed in 26 children with various malignant tumors and peripheral blood stem cell transplantations (PBSCT) were performed in 15 of the children. There was a positive correlation between logarithm of total CD34⁺ cells/kg and logarithm of colony-forming unit-granulocyte macrophage (CFU-GM)/kg (r = 0.86). The time elapsed until the white blood cells (WBC) exceeded 1000/μL was related to both CFU-GM (r = 0.67) and CD34⁺ cell count (r = 0.60). The number of days elapsed until platelet count exceeded 5 times 10⁴/μL was not related to the logarithm of CFU-GM count/10⁵ per kg transfused (r = 0.47), but was related to the logarithm of CD34⁺ cell counts/10⁶ per kg transfused (r = 0.73). The number of days elapsed until the reticulocytes exceeded 5 times 10⁴/μL was not related to the logarithm of CFU-GM count/10⁵ per kg (r = 0.52), but was related to the logarithm of CD34⁺ cell counts/10⁶ per kg transfused (r = 0.91). Although CD34⁺ cell counts correlated with the number of CFU-GM, bone marrow regeneration rates in three lineages were predicted more accurately by the number of CD34⁺ cells transfused than by the number of CFU-GM. These results suggest that measurement of the CD34⁺ cell count may be useful in predicting bone marrow regeneration rate after PBSCT.     

Effect of clonidine on the height of a child with glycogen storage disease type VI: A 13 year follow-up study

A 9-month-old male was found to have hepatomegaly when he was treated by his doctor for bronchitis. At the age of 2 years and 3 months, glycogen storage disease (GSD) of type VI (GSD VI) was diagnosed in this patient. Despite the recommended diet therapy, his growth was not good, changing under or along the line of ?2.0 SD. At the age of 6 years, oral clonidine therapy (0.15 mg/day, 0.2 mg/m² body surface per day) was started. Six to 10 months after the initiation of clonidine therapy, his height began to increase more than the values for ?2.0 SD and once reached the value for ?1.0 SD at the age of 10 years. His growth rate and bone age increased. Clonidine therapy was continued regularly for 7 years until the age of 13 years, 11 months. At that time his development was normal and his height reached 150.8 cm (–1.34 SD). However, cessation of the treatment at the patient's free will resulted in a reduction of the growth rate at age 15 years 6 months. These observations suggest the effect of clonidine therapy on height. Side effects were not noted during the clonidine therapy. Other clinical and laboratory findings of GSD VI also completely improved during treatment. In conclusion, administration of clonidine could be another treatment modality in children with GSD, not only of type VI but also I and III.     

Observational assessment of patients' sleep complaints in the coronary care unit

Abstract Sleep-wake disorders are common in patients who are treated in coronary care units (CCU). We report a clinical trial aimed at developing an observational assessment of patients' sleep complaints in a CCU. Thirty-four inpatients with coronary heart diseases in the CCU (Tokyo Metropolitan Hiroo General Hospital) participated in the study. The patient's sleep state was assessed by nursing staff and classified as wakefulness, drowsy and asleep according to a semi-structured observation. Subjective sleep feelings upon rising was also investigated. Sleep disruptions during the latter half of the night was found to be an important determining factor of sleep feeling upon rising.     

Obstructive sleep apnoea is associated with risk factors comprising the metabolic syndrome

Background and objective: Several features of OSA syndrome suggest that it is a manifestation of the metabolic syndrome (MS). In this study, we investigated the prevalence of the MS among male Japanese patients with OSA, as well as the relationship between OSA in non‐obese patients and components of the MS other than obesity (hypertension, dyslipidaemia and glucose intolerance). Methods: The study included 416 Japanese men who were diagnosed as having OSA by polysomnography. Among these, 101 non‐obese patients were selected and the severity of OSA, as well as the prevalence of hypertension, dyslipidaemia and glucose intolerance, was assessed. Results: The MS was associated with OSA in 218/416 patients (52.4%). A significant increase in the prevalence of the MS was associated with increased severity of OSA, as categorized according to AHI. In the non‐obese patients with OSA (mean age 57.6 years, BMI 22.7 kg/m², AHI 34.3 events/h), hypertension, dyslipidaemia and glucose intolerance were identified in 70 (69.3%), 43 (42.6%) and 20 patients (19.8%), respectively. At least two of these factors were identified in 40 patients (39.6%). Non‐obese patients with severe OSA had a significantly higher prevalence of two or more of these factors (33/59 patients, 55.9%). Conclusions: Although Asians are generally less obese than Caucasians, the prevalence of the MS was high among Japanese patients with OSA, and even among non‐obese patients, OSA was associated with risk factors for the MS.     

Pelvic Autonomic Dysfunction without Tetraparesis: A Sequel of Rubella‐related Acute Longitudinal Myelitis

Objectives: Pelvic autonomic dysfunction without tetraparesis can be a sequel of acute longitudinal myelitis. Methods: A 25‐year‐old woman had suffered from pelvic dysfunction (urinary retention and severe constipation) without tetraparesis for 5 months as a sequel of rubella‐related acute longitudinal myelitis at the spinal segments of C2 to T9. She still had brisk deep tendon reflexes and extensor plantar responses. We performed autonomic function tests in the patient. Results: Pelvic autonomic function tests revealed acontractile detrusor and unrelaxing sphincter, suggesting the shock phase of a suprasacral spinal cord lesion; as well as loss of voluntary sphincter contraction, prolonged colonic transit time, decreased spontaneous phasic contractions, and paradoxical sphincter contraction on defecation, suggesting a suprasacral cord lesion. Conclusion: These findings indicated that the lateral medullary reticulospinal tracts just inside the pyramidal tract, for example, the descending pathways to the bladder and bowel, and the adjacent corticospinal tract to the sphincter, were selectively affected in our case.