Early detection of prune belly syndrome in utero by ultrasonography

A report is presented of a male infant with prune belly syndrome (PBS) in whom bladder enlargement was detected by ultrasound (US) as early as 13 weeks of gestation. Subsequent fetal US identified progressive urinary tract dilatation, ascites and oligohydramnios. At 22 weeks, the fetal bladder was drained under US guidance. A gradual resolution of oligohydramnios was detected on US performed after 26 weeks of gestation. Delivery by cesarean section was performed at 34 weeks of gestation. The newborn had typical features of PBS with a vesico-cutaneous fistula but did not show respiratory distress. Imaging studies showed hypoplastic left kidney, slightly dysplastic but functioning right kidney, megaureter, megacystis, vesicoureteral reflux and dilated prostatic urethra. The early detection of genitourinary system abnormalities and serial US suggest that a distal urethral obstruction may be the underlying mechanism of PBS. Spontaneous (or therapeutic) intra-uterine decompression of the bladder might ameliorate obstructive nephropathy and oligohydramnios, allowing adequate lung development.     

Post-transfusion chronic hepatitis C in children

Two hundred and twenty-six patients who received blood products for open-heart surgery in childhood were screened by a second-generation enzyme-linked immunosorbent assay and with surrogate markers for hepatitis C virus (HCV) infection, such as alanine aminotransferase (ALT). Twenty-two (14%) of the 161 recipients who received blood products before 1989 and none of the subjects who had received blood products after 1990 (the year that the blood bank began to screen for HCV antibody) were HCV seropositive. Virologic and histologic studies showed that 10 (45%) of 24 seropositive patients had persistent hepatitis C virus infection, many with ongoing hepatitis. The remaining 12 seropositive patients with absent HCV RNA had normal ALT levels, indicating resolved hepatitis C infection. Enrolment in screening is important to detect chronic hepatitis C in children who received blood products prior to screening of blood donors for HCV antibody.     

Two cases of insulin-dependent diabetes mellitus under insulin treatment with slow height velocity: Relationship of growth hormone-binding protein,metabolic control and growth

Inadequate blood sugar control in children with insulin-dependent diabetes mellitus (IDDM) sometimes results in low insulin-like growth factor-I (IGF-I) and sluggish height growth. High affinity growth hormone-binding protein (GHBP), which is identical to the extracellular domain of growth hormone (GH) receptor, is present in the human sera. We have determined GHBP activity in two cases of poorly controlled IDDM with low height velocity in relation to metabolic control in order to determine the mechanism of resistance to GH in this condition, as indicated by low levels of GH-dependent growth factor IGF-I in the face of high serum GH levels. GHBP activity was within the normal range in two cases of IDDM with slow height velocity, low IGF-I and high hemoglobin-A₁. In both cases, improved blood sugar control normalized IGF-I to result in accelerated height velocity without a major change in GHBP levels. These results may indicate either normal peripheral GH receptor or normal free portion of serum GH, and may suggest that the major defect in slow growth in poorly controlled diabetes is due to the post GH receptor.     

EXPRESSION OF PARATHYROID HORMONE (PTH)-RELATED PEPTIDE (PTHrP) AND PTH/PTHrP RECEPTOR IN GIANT CELL TUMOUR OF TENDON SHEATH

The giant cell tumour of tendon sheath (GCTTS) is mainly composed of mononucleated stromal cells (SC) and multinucleated giant cells (GC), so-called osteoclast-like GC. It is thought that GC are derived from SC, but their precise relationship is not fully understood. Parathyroid hormone (PTH)-related peptide (PTHrP) is now considered to be a cytokine for cell differentiation, which may stimulate osteoclast-like cell formation in haematopoietic cells. Five cases of GCTTS were evaluated immunohistochemically, using a variety of antibodies against PTHrP, PTH/PTHrP receptor, KP-1 as a histiocytic phenotypic antigen, fibronectin as a fibroblastic phenotypic antigen, and proliferating cell nuclear antigen (PCNA). In situ hybridization and immunohistochemistry revealed that in all cases both SC and GC expressed PTHrP. PTH/PTHrP receptor was observed only in histiocytic SC and GC, but not in fibroblastic SC. Almost all GC showed histiocytic features. PCNA immunoreactivity was detected only in the nuclei of SC, and not in GC. Moreover, SC with PTH/PTHrP receptor immunoreactivity were negative for PCNA. These results suggest that GC are derived from histiocytic SC expressing PTH/PTHrP receptor and losing proliferative activity in the process of transition from mononuclear to multinucleated. PTHrP produced by SC and GC may be involved in the formation of osteoclast-like cells in GCTTS by acting in an autocrine/paracrine fashion.     

Safety of Gliadel Implant for Malignant Glioma: Report of Postmarketing Surveillance in Japan

Clinical trial data of Carmustine implant (Gliadel Wafer) in Japanese patients with malignant glioma are limited; thus, we conducted a postmarketing surveillance study to evaluate the safety of Gliadel in real-world clinical practice in Japan. In this postmarketing surveillance study, all patients who received Gliadel placement for malignant glioma surgeries from its market launch (January 9, 2013) to July 10, 2013 were enrolled from 229 institutions using a central registration system. Up to eight wafers of Gliadel (containing 61.6 mg of carmustine) were used to cover the site of brain tumor resection intraoperatively according to the size and shape of the tumor resection cavity. The observation period lasted 3 months after Gliadel placement. Patients were followed up for 1 year postoperatively. Safety was assessed by the incidence of adverse events (AEs) and adverse drug reactions (ADRs). In total, 558 patients were included. Most patients (66.7%) received eight Gliadel wafers. The percentage of patients with ADRs was 35.7% (365 ADR episodes in 199 patients). Of the AEs of special interest, the most common were cerebral edema (22.2%, 124/558 patients), convulsion (9.9%, 55/558 patients), impaired healing (4.8%, 27/558 patients), and infection (3.4%, 19/558 patients). This first all-case postmarketing surveillance report of the safety of Gliadel in real-world clinical practice in Japan suggests that the risk of toxicity with Gliadel placement is relatively tolerable. The survival benefits of Gliadel placement should be evaluated and considered carefully by the clinician taking into account possible toxicities.     

Paroxysmal Atrial Fibrillation Maintained by Nonpulmonary Vein Sources Can Be Predicted by Dominant Frequency Analysis of Atriopulmonary Electrograms

Introduction: Increasing evidence suggests that high-frequency excitation in the pulmonary vein (PV) plays a dominant role in the maintenance of paroxysmal atrial fibrillation (AF). However, in a certain population of patients, AF remains inducible after PV isolation (PVI). We sought to clarify whether dominant frequency (DF) analysis of atriopulmonary electrograms can predict paroxysmal AF maintained by non-PV sources.
Methods and Results: Sixty-one patients with paroxysmal AF (aged 59 ± 12 years) were studied. Before PVI, bipolar electrograms during AF were recorded simultaneously from three PV ostia, the coronary sinus (CS), and the septum and free wall of the right atrium (RA). DF was obtained by fast Fourier transform (FFT) analysis. AF was rendered noninducible after PVI in 39 of the 61 patients (noninducible group), but was still inducible in the remaining 22 (inducible group). Among the six recording sites, the highest DF was documented in the PV in all of the patients in the noninducible group; the maximum DF among the three PVs (PV-DF_max) was higher than that among the CS and two RA sites (atrial DF_max; 7.2 ± 1.0 Hz vs 5.8 ± 0.7 Hz, P < 0.0001). In contrast, the highest DF was documented in the CS or RA in 45.5% of the patients in the inducible group; PV-DF_max was comparable with atrial DF_max (6.6 ± 0.8 Hz vs 6.6 ± 0.6 Hz). AF inducibility after PVI was predicted by a PV-to-atrial DF_max gradient of <0.5 Hz, with a sensitivity of 90.9% and a specificity of 89.7%.
Conclusion: Paroxysmal AF maintained by non-PV sources can be predicted by the PV-to-atrial DF gradient.     

Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease

A 36-year-old man was admitted to hospital due to right flank pain as a result of ureteral stones. He had been followed up for type 1 glycogen storage disease since the age of 11 years. He had four episodes of spontaneous stone birth during the previous 2 years, and each stone was composed mainly of calcium oxalate. Intravenous pyelography showed right hydronephrosis due to ureteral stones and bilateral multiple renal stones. We carried out transurethral ureterolithotripsy (TUL) on the right ureteral stones. The composition was a mixture of calcium oxalate and calcium phosphate. Laboratory evaluation demonstrated the association of distal renal tubular acidosis (RTA). These observations suggest that hypocitraturia and distal RTA are strongly correlated to recurrence of calcium nephrolithiasis. The patient's serum uric acid and urinary citrate excretion levels normalized after allopurinol and potassium citrate administration.     

Newborn hearing screening in a single private Japanese obstetric hospital

BACKGROUND: Hearing loss is one of the most common abnormalities present at birth. The authors examined the frequency of newborn hearing disturbance at a single obstetric hospital to exclude technical varieties or varieties of subjects which are inevitable in multiple institutional cooperative studies. METHODS: The newborns were examined with an automated auditory brainstem response screener, the ALGO 2e, on day 4 post-partum. This Screener uses 35 dB near hearing level click stimuli and provides a PASS/REFER result that requires no interpretation. The PASS result is accepted as adequate evidence of hearing and REFER result as required further diagnostic testing to determine hearing status. Screenings of REFER outcomes were repeated at 1 month of age. Comparisons were made of the results and the Japanese multiple institutional trials by Mann-Whitney U-test. RESULTS: The authors screened 8979 out of 13 494 neonates born from July 1999 to October 2004. The neonates with unilateral or bilateral REFER outcomes were 37 cases (0.41% of the total examined) on day 4, and 31 cases (0.35%) at 1 month of age. Five of the 31 neonates had PASS outcomes at 6 months of age. Among the 31 REFER neonates, eight (25.8%) had otolaryngeal complications. CONCLUSION: In the present study, screening results at 1 month of age resembled the final diagnosis obtained at 6 months of age; out of 31 REFER cases, 26 cases were diagnosed with hearing loss. In contrast, in the multiple institutional study, both unilateral and bilateral REFER rates were much higher than the rates of final hearing loss. Concerning the final diagnoses of bilateral hearing loss, the authors' results (0.10%) and the multiple institutional studies' results (0.05% in low-risk and 2.19% in high-risk neonates) were comparable to the results reported in the USA. To expand the newborn hearing screening program, it is crucial that authority and institutions concerned promote the development of a national or prefecture-based early hearing loss identification and intervention network.