Haemophagocytic lymphohistiocytosis in association with granular lymphocyte proliferative disorders in early childhood: characteristic bone marrow morphology

Five paediatric cases of haemophagocytic lymphohistiocytosis (HLH) which showed proliferation of granular atypical lymphocytoid cells in bone marrow are reported. All cases were girls aged 8 months to 4 years who had marked hepatosplenomegaly. Marker analysis on peripheral blood mononuclear cells revealed an increase in the CD3⁺HLADR⁺ subset in three cases and the CD³⁻CD56⁺ subset in one case. An Epstein-Barr virus genome was detected in three cases, and monoclonality was confirmed in two cases. A characteristic morphology of large granular lymphocytes (LGL) was identified, with elongated bizarre features that resembled horsetail-, tadpole-, cucumber- or shooting star-type configurations on the bone marrow smear. Serum concentrations of soluble interleukin-2 receptor and interferon-gamma were elevated in all cases. All five cases required multi-agent chemotherapy which resulted in two complete remissions, two partial remissions and one no response. Refinement of treatment is required for these paediatric GLPD cases which probably comprise a specific high-risk subgroup among secondary HLH patients which had previously escaped notice.     

Sphincter of Oddi motor activity in patients with stones in gall-bladder, common bile duct or intrahepatic duct and the effect of morphine

Abstract Sphincter of Oddi phasic motor activity and common bile duct pressure were investigated in controls (seven patients) and in patients with gall-bladder stones (five patients), common bile duct stones (15 patients), or intrahepatic stones (13 patients). There were no significant differences in amplitude and frequency of the phasic activity or the common bile duct pressure between the controls and disease groups. Basal pressure of the phasic contraction, however, was significantly lower in patients with common bile duct or intrahepatic stones than in the controls or gall-bladder stone group. The administration of morphine, known to cause spasm of the sphincter of Oddi, increased the basal pressure and frequency of the phasic waves in all groups, while the amplitude remained unchanged. Response to morphine in patients with common bile duct or intrahepatic stones was similar to the controls. However, the basal pressure in these latter groups was lower than in the controls, even after stimulation by morphine. The high incidence of bacterial growth in bile from these patients hitherto reported may be attributable to ascending infection possibly resulting from the low basal pressure of the sphincter of Oddi.     

Accessory Pathway Reciprocating Tachycardia Involving Twin AV Nodes in a Patient with Atrioventricular Discordance and Mitral Atresia

The atrioventricular (AV) conduction system in AV discordance remains unclear, especially in cases with complex cardiac anomaly. We report a case of accessory pathway reciprocating tachycardia in atrioventricular discordance (AVD) and mitral atresia with twin AV nodes. In this case, the anterior AV node was located along the atretic mitral valve. The anterior AV node was involved in tachycardia and the posterior AV node acted as a bystander during tachycardia. The anterior AV node in AVD can be located along the atretic mitral valve, and one of twin AV nodes might act as a bystander during AV reciprocating tachycardia. (PACE 2010; 637–640)     

Analysis of Met235 to Thr variant of the angiotensinogen gene in relation to the blood pressure and family history of essential hypertension in Japanese children

A recent study reported a significant relationship between a T⁷⁰⁴→C (Met²³⁵→Thr) variant in exon 2 of the angiotensinogen gene in adults and essential hypertension. In the present study, this variant was detected in 131 Japanese children using a polymerase chain reaction. The allele frequency of the variant was 0.76. The genotype frequency of the homozygote for the allele was 0.59, and children who were homozygous had higher systolic blood pressure than those with the other two genotypes. No relationship was found between children's polymorphism and a family history of essential hypertension. These findings suggest that this molecular variant of the angiotensinogen gene may play some role in the regulation of blood pressure in Japanese children.     

Serum level and gene polymorphism of angiotensin I converting enzyme in Japanese children

The aim of the present study was to determine the distribution of the insertion/deletion polymorphism of angiotensin I converting enzyme (ACE) gene in Japanese children. In addition, the relationship between this polymorphism and serum ACE levels in the same population were analyzed. Insertion/deletion polymorphism located in intron 16 of the ACE gene was examined by polymerase chain reaction in Japanese children aged 10–15 years. Allele frequencies were 0.64 for the insertion allele and 0.36 for the deletion allele in 122 subjects. No association was found between genotypes in this polymorphism and the level of systolic or diastolic blood pressure. A significant relationship between this polymorphism and serum ACE activity was observed. These results suggest that interindividual variability of serum ACE level is strongly influenced by the ACE genotype as early as in childhood.     

Comprehensive treatment of advanced neuroblastoma involving autologous bone marrow transplant

Encouraging results are reported with high-dose chemotherapy and total body irradiation followed by autologous bone marrow transplantation in the treatment of advanced neuroblastoma. However, relapse remains a significant problem. We used high-dose chemotherapy, surgery, intraoperative radiation and an autologous bone marrow transplant treated in vitro to remove tumor cells followed by 13-cis-retinoic acid to treat 36 children with advanced neuroblastoma. This comprehensive treatment appears to improve the survival rate of patients with advanced neuroblastoma, including those with N-myc amplification and bony involvement. The disease-free survival rate was 66% (95% confidence interval, 49–84%) at 3 years. All patients who received 13-cis-retinoic acid developed cheilitis, but no bone marrow depression occurred in these patients. Five patients developed hemolytic uremic syndrome (HUS) post-transplant. This may have been related to the procedure used for total body irradiation. Patients who had their kidneys shielded during this procedure did not develop this syndrome. Patients who received local irradiation at the primary site showed no evidence of relapse in this region, indicating that such therapy may help to prevent a relapse. These data suggest a high rate of 3 year disease-free survival with this treatment strategy. The nonrandomized nature of the study and use of multiple modalities precludes analysis of the specific contribution of each.     

A Case of Hepatocellular Carcinoma Developed on Polycystic Disease of the Liver with Cirrhosis

A case of hepatocellular carcinoma associated with polycysticdisease of the liver and posthepatitic cirrhosis in a 56-year-oldKorean woman was described. She was first admitted because ofepigastralgia, irradiated back pain and general fatigue. Onthe liver scan a relative cold area was demonstrated. The celiacangiography revealed multiple avascular areas indicating cysticlesions. The exploratory laparotomy confirmed the presence ofpolycystic disease of the liver with cirrhosis. Four years afterthe first admission, she underwent an appendectomy. At the timeof operation, the surgeon suspected the presence of hepatocellularcarcinoma, and she was admitted for the second time to our hospital.The minimal elevation of serum -fetoprotein was observed. Thedevelopment of hepatocellular carcinoma was confirmed by theceliac angio graphy, and a partial lobectomy of the liver wasperformed. Four months after the operation she died of hepaticfailure. Of the four reported cases of hepatocellular carcinoma associatedwith polycystic disease of the liver including this case, allhad liver cirrhosis, and serum HBs-Ag was positive in all ofthe three cases examined.     

Color Doppler ultrasonography as a routine clinical examination in male infertility

AIM: We assessed the value of scrotal color Doppler ultrasonography as a routine examination in infertile men. METHODS: Color Doppler ultrasonography was performed in 545 infertile men with a mean age of 35.8 years to detect intrascrotal abnormalities. Findings were compared with those of physical examination. RESULTS: Intrascrotal abnormalities were detected by ultrasonography in 65.3% of patients. Of 374 abnormalities, 58.3% were undetected by physical examination. Left varicocele was found in 313 patients (57.4%); testicular microlithiasis in 30 (5.5%); epididymal cyst in 21 (3.9%); right varicocele in 4 (0.8%); and testicular cysts in 3 (0.6%). One occurrence each (0.2%) was found for testicular tumor, intrascrotal hemangioma, and hydrocele of the spermatic cord. Compared to ultrasonography, sensitivity in detecting left varicocele by physical examination was 58.4%; specificity, 79.3%; accuracy, 67.3%; and positive predictive value, 79.3%. Venous diameters in the pampiniform plexus were 3 mm or more in 61.5% of 130 subclinical left varicoceles. Of 30 patients with testicular microlithiasis, 14 had varicocele, 2 had epididymal cyst,s 3 had a history of mumps orchitis, 1 had retractile testis, and 1 had a history of orchiectomy for contralateral testicular tumor. CONCLUSIONS: The routine Color Doppler ultrasonography is valuable for diagnosing scrotal abnormalities in infertile men, frequently detecting non-palpable lesions.