A dominantly inherited malformation syndrome with short stature,upper limb anomaly,minor craniofacial anomalies,and absence of TBX5 mutations: Report of a Thai family

We report on a Thai family with dominantly inherited malformation syndrome with upper limb anomalies, short stature, quadricuspid aortic valve, and minor craniofacial anomalies. The affected individuals comprised a mildly affected mother, a moderately affected daughter, and a most severely affected son. The daughter and son had short stature. The craniofacial abnormalities comprised frontal bossing, hypoplastic nasal bones, depressed nasal bridge, and broad nasal alae. The upper limb defects varies among the patients, ranging from radial ray defects in the mother through radial and ulnar ray defects with unilateral humeral hypoplasia in the daughter to radial ray defects with severe oligodactyly and bilateral humeral hypoplasia in the son. All patients in this family had hypoplasia of the shoulder girdle and resembled what is observed in many families with Holt‐Oram syndrome. Moreover, the son showed quadricuspid aortic valve with mild aortic regurgitation. However, the present family did not show any mutation of the TBX5 gene, a disease‐causing gene of Holt‐Oram syndrome. The present family deserves further investigation on other genes that play a role in the development of the upper limbs, particularly of radial rays. © 2002 Wiley‐Liss, Inc.     

Effects of low-caloric diet in puerperium on prolactin, TSH estradiol and milk secretion

Ten puerperal women were put on a 1,200 kcal diet per day for 3 days followed by an ordinary 1,800 kcal diet per day for 3 days [Low-Caloric (LC) group]. Fifteen puerperal women were put on an ordinary 1,800 kcal diet per day for 6 days[Ordinary-Caloric (OC) group]. All of the women took breakfast at 7:30 am, blood was drawn at 9:30 am and then the breasts were milked for 2 minutes with an electric breast pump starting on the day of delivery (Day 0) and continuing to Day 5. Four women in the LC and OC groups underwent a thyrotropin-releasing hormone (TRH) stimulation test on Days 1 and 3. Serum prolactin (PRL) and TSH levels in the LC group tended to be much lower than those of the OC group during the test period. Serum PRL and TSH release response to TRH in the OC group were much higher than in the LC group on Days 1 and 3. No significant difference was noted between the OC and LC groups in serum estradiol (E2) and cortisol levels from Day 0 to Day 5. The milk volume in the LC group was significantly less than in the OC group on Day 1. Analysis of milk specimen components revealed little difference between the OC and LC groups. These results suggested that a low-caloric diet may suppress PRL, TSH and milk secretion and may not be useful for breast-feeding.     

Clonorchiasis complicated with duodenal papillary cancer in a visitor from China]

It is well known that long-term infection with Clonorchis sinensis often causes bile duct cancer, usually. It occurs in the intrahepatic bile duct. We encountered a rare case of clonorchiasis complicated with duodenal papillary cancer. The patient was a woman from China. Although clonorchiasis is rarely found in Japan, the promotion of international exchange may increase the number of visitors from endemic areas. Thus we must pay sufficient attention to this disease. Also, we reported that the microplate ELISA technique was useful in the diagnosis of clonorchiasis with high accuracy in this case.     

Successful Repair of the Right Atrial Isomerism, Double Outlet Right Ventricle, Cornmon Atrioventricular Canal, Pulmonary Stenosis, and Total Anomalous Pulmonary Venous Connection

A 6-year-old boy was successfully operated on for double outlet ventricle, common atrioventricular canal with severe valvular regurgitation, right atrial Isomerism, L-loop ventricles, total anomalous pulmonary venous connection, and pulmonary stenosis with hypoplastic left pulmonary artery. The Interventricular rerouting from the left ventricle to the ascending aorta was performed with a spiral patch, the lnteratrlal switching was performed by a Mustard patch, the common atrioventricular orifice was partitioned and valve repair was performed, and an 18-mm valved conduit was inserted between the right ventricle and the pulmonary artery. Although the patient had a small residual ventricular septal defect and pulmonary stenosls, the patient Is alive and well.     

Quantitative analysis of surface EMG activity of cranial and leg muscles across sleep stages in human.

OBJECTIVE: The aim of this study was to make a quantitative analysis of the changes in cranial and limb muscle activity from wakefulness to light and deep sleep stages and during rapid eye movement (REM) sleep of normal subjects. METHODS: Polysomnographic recordings were made of the sleep of 9 healthy human subjects, including electromyograms of the suprahyoid, temporalis and masseter cranial muscles and the anterior tibialis limb muscle. Quantitative assessments of EMG activity were carried out with root mean square (RMS) and frequency-spectral analysis (FSA) methods. RESULTS: From wakefulness to sleep, a significant reduction (-25.2 to -71.2%; P < 0.01) was observed in EMG activity (for both RMS and FSA) of the 3 cranial muscles using both methods of analysis. The EMG activity of suprahyoid muscle further decreased from non-REM to REM sleep (-17.8 to -43.0%; P < 0.01). In contrast, the EMG activity of the anterior tibialis muscle was only slightly reduced across sleep stages and did not further reduce during REM sleep. During REM sleep, all the 4 muscles maintained minimal activity. CONCLUSIONS: The maintenance of muscle activity during REM sleep suggests that a minimal level of activity is required to preserve physiological functions (e.g. airway patency, posture) related to homeostasis and bodily protection. SIGNIFICANCE: This study suggests that quantitative sleep EMG analysis is important for understanding the mechanisms of sleep-related movement disorders or when objective assessment of changes in EMG activity are needed for diagnostic purposes or for the assessment of drug efficiency.     

Severely calcified constrictive pericarditis simulating a mediastinal tumor and obstructing the right ventricular inflow tract.

We report a rare case of constrictive pericarditis that stimulated a large mediastinal tumor obstructing the right ventricular inflow tract. A 58-year-old woman was referred to our hospital because of a recent increase of dyspnea and facial edema. Computed tomography revealed severely thickened calcification, including a low-density area, presenting as a mediastinal tumor, compressing the right ventricular inflow tract. A complete resection was performed, and her symptoms dramatically improved. Idiopathic constrictive pericarditis was diagnosed pathologically.     

Changes in Glucose Metabolism in Cerebral Cortex and Cerebellum Correlate With Tremor and Rigidity Control by Subthalamic Nucleus Stimulation in Parkinson's Disease: A Positron Emission Tomography Study

Objective. Employing [¹⁸F]fluorodeoxyglucose (FDG) positron emission tomography (PET) to assess the correlation between the effect of deep brain stimulation (DBS) on the subthalamic nucleus (STN) and the regional cerebral metabolic rate of glucose (rCMRGlc) in advanced Parkinson's disease patients (N = 8). Materials and Methods. On the basis of patients’ diary records, we performed FDG‐PET during the off‐period of motor activity with on‐ or off‐stimulation by STN‐DBS on separate days and analyzed the correlation between changes in motor symptoms and alterations in the rCMRGlc. Result. When FDG‐PET was performed, the motor score on the unified Parkinson's disease rating scale (UPDRS) was 64% lower with on‐stimulation than with off‐stimulation (p < 0.001, Wilcoxon single‐rank test). STN‐DBS increased the rCMRGlc in the posterior part of the right middle frontal gyrus, which corresponded to the premotor area, and the right anterior lobe of the cerebellum (p < 0.005, paired t‐test). No region exhibited a decrease in rCMRGlc. Among the items of the UPDRS motor score, the changes in resting tremor and rigidity of the left extremities showed a significant correlation with the changes in rCMRGlc observed in the right premotor area (p < 0.02 and p < 0.05, respectively, Spearman's rank correlation). Conclusions. STN‐DBS either activates the premotor area or normalizes the deactivation of the premotor area. These FDG‐PET findings obtained are consistent with the idea that STN‐DBS modifies the activities of neural circuits involved in motor control.     

Bilateral internal mammary artery grafts for coronary artery bypass operations in children

We performed myocardial revascularization with bilateral internal mammary arteries in eight children for coronary artery complications consequent to Kawasaki disease. Subjects included seven boys and one girl, ranging in age from 3 to 13 years (mean age, 8.3 +/- 3.4 years). The body surface area ranged from 0.65 to 1.65 m2 (average, 1.08 +/- 0.35 m2). Three patients had a previous myocardial infarction. The right internal mammary artery was anastomosed to the right coronary artery and the left internal mammary artery was sutured to the left anterior descending artery in all patients. The patients received an average of 2.4 grafts. Magnifying loupes of 3.5 X were used for anastomosis with 8-0 monofilament polypropylene sutures. Subjects were followed up from 12 to 38 months (23 +/- 10.8 months) after operation. All were doing well with no recurrence of angina, and body development was normal, including the sternum and thorax according to chest x-ray films and computed tomography of the chest. Patency of the bilateral internal mammary arteries was 100% in the early (within 1 month) postoperative period and remained so in the late (over 1 year) postoperative period. Anastomotic junctions between the internal mammary artery and the coronary artery developed well angiographically in the late postoperative period. The internal mammary artery is the graft of choice for pediatric myocardial revascularization because of its excellent long-term patency and growth potential. Bilateral internal mammary arteries should be used whenever indicated, and the use of bilateral internal mammary arteries did not adversely influence chest wall development in the children.