Morphometric geometrical analysis to determine the centre of the acetabular component placement in Crowe type IV hips undergoing total hip arthroplasty.

AIMS: We analyzed the acetabular morphology of Crowe type IV hips using CT data to identify a landmark for the ideal placement of the centre of the acetabular component, as assessed by morphometric geometrical analysis, and its reliability. PATIENTS AND METHODS: A total of 52 Crowe IV hips (42 patients; seven male, 35 female; mean age 68.5 years (32 to 82)) and 50 normal hips (50 patients; eight male, 42 female; mean age 60.7 years (34 to 86)) undergoing total hip arthroplasty were retrospectively identified. In this CT-based simulation study, the acetabular component was positioned at the true acetabulum with a radiological inclination of 40° and anteversion of 20°. Acetabular shape and the position of the centre of the acetabular component were analyzed by morphometric geometrical analysis using the generalized Procrustes analysis. RESULTS: The acetabular shapes of Crowe IV hips were distinctively triangular; the ideal position of the centre of the acetabular component was superior on the posterior bony wall. The first and second relative warps explained 34.2% and 18.4% of the variance, respectively, compared with that of 28.6% and 18.0% in normal hips. We defined the landmark as one-third the distance from top on the posterior bony wall in Crowe IV hips. The average distance from the centre of the acetabular component was 5.6 mm. CONCLUSION: Crowe IV hips are distinctively triangular; the point one-third from the top on the posterior bony wall was a useful landmark for placing the acetabular component.

Long-term follow-up of composite bladder augmentation incorporating stomach in a multi-institutional cohort of patients with cloacal exstrophy.

INTRODUCTION: Composite bladder augmentation, incorporating gastric and bowel segments, has the theoretical advantage of metabolic neutrality while potentially avoiding the morbidities of gastrocystoplasty, such as hematuria-dysuria syndrome. The most common indication for this operation is a paucity of bowel, such as in cloacal exstrophy. Despite several early descriptive studies of this technique, there are no reports, to date, of long-term follow-up in this population. OBJECTIVE: To describe the outcomes of composite bladder augmentation utilizing stomach in a cohort of cloacal exstrophy patients. MATERIALS AND METHODS: A retrospective review of cloacal exstrophy patients who underwent composite bladder augmentation from 1984 to 2006 at two institutions was performed. The incidence of mortality and morbidities related to augmentation was evaluated. RESULTS: Eleven patients with cloacal exstrophy underwent composite bladder augmentation. Median age at initial augmentation was 6.4 years (interquartile range (IQR) 4.4-9.1). Median follow-up was 13.2 years (IQR 11.2-24.6). The Summary table describes the types of composite bladder augmentations. Of the three patients with pre-operative metabolic acidosis, two improved with composite bladder augmentation and one developed metabolic alkalosis. Three developed hematuria-dysuria syndrome: one improved with staged ileocystoplasty, and two had persistent symptoms successfully treated with H2 receptor blockers. Two of 11 developed symptomatic bladder stones. There were no reported bladder perforations, bladder malignancies, conversions to incontinent urinary diversions, or deaths. CONCLUSION: With long-term follow-up, very few patients developed metabolic acidosis/alkalosis after composite bladder augmentation. The composite bladder augmentation will continue to be used in patients with cloacal exstrophy, in order to minimize the impact on the pre-existing short gut in these patients.

Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.

STUDY QUESTION: What percentage of cases with non-syndromic hypospadias can be ascribed to mutations in known causative/candidate/susceptibility genes or submicroscopic copy-number variations (CNVs) in the genome? SUMMARY ANSWER: Monogenic and digenic mutations in known causative genes and cryptic CNVs account for >10% of cases with non-syndromic hypospadias. While known susceptibility polymorphisms appear to play a minor role in the development of this condition, further studies are required to validate this observation. WHAT IS KNOWN ALREADY: Fifteen causative, three candidate, and 14 susceptible genes, and a few submicroscopic CNVs have been implicated in non-syndromic hypospadias. STUDY DESIGN, SIZE, DURATION: Systematic mutation screening and genome-wide copy-number analysis of 62 patients. PARTICIPANTS/MATERIALS, SETTING, METHODS: The study group consisted of 57 Japanese and five Vietnamese patients with non-syndromic hypospadias. Systematic mutation screening was performed for 25 known causative/candidate/susceptibility genes using a next-generation sequencer. Functional consequences of nucleotide alterations were assessed by in silico assays. The frequencies of polymorphisms in the patient group were compared with those in the male general population. CNVs were analyzed by array-based comparative genomic hybridization and characterized by fluorescence in situ hybridization. MAIN RESULTS AND THE ROLE OF CHANCE: Seven of 62 patients with anterior or posterior hypospadias carried putative pathogenic mutations, such as hemizygous mutations in AR, a heterozygous mutation in BNC2, and homozygous mutations in SRD5A2 and HSD3B2. Two of the seven patients had mutations in multiple genes. We did not find any rare polymorphisms that were abundant specifically in the patient group. One patient carried mosaic dicentric Y chromosome. LIMITATIONS, REASONS FOR CAUTION: The patient group consisted solely of Japanese and Vietnamese individuals and clinical and hormonal information of the patients remained rather fragmentary. In addition, mutation analysis focused on protein-altering substitutions. WIDER IMPLICATIONS OF THE FINDINGS: Our data provide evidence that pathogenic mutations can underlie both mild and severe hypospadias and that HSD3B2 mutations cause non-syndromic hypospadias as a sole clinical manifestation. Most importantly, this is the first report documenting possible oligogenicity of non-syndromic hypospadias. STUDY FUNDING/COMPETING INTERESTS: This study was funded by the Grant-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology; by the Grant-in-Aid from the Japan Society for the Promotion of Science; by the Grants from the Ministry of Health, Labour and Welfare, from the National Center for Child Health and Development and from the Takeda Foundation. The authors have no competing interests to disclose. TRIAL REGISTRATION NUMBER: Not applicable.

Neonatal-onset hereditary coproporphyria with male pseudohermaphrodism.

The appearance of hereditary coproporphyria (HCP) before puberty is very rare, and all reported cases of early-onset HCP have been in the homozygous or the compound heterozygous state. Some have been identified as harderoporphyria, which is a rare erythropoietic variant form of HCP. These conditions can be differentiated by molecular analysis because the gene abnormality responsible for harderoporphyria seems to be unique (K404E). Early-onset HCP, not harderoporphyria, is reported with a gene mutation in the heterozygous state and male pseudohermaphrodism. It was shown that adrenal gland hypofunction resulted in male pseudohermaphrodism. This case demonstrates the possibility that abnormalities of steroid metabolism influence porphyria.

[Development of new hydrophilic catheter kit for self-catheterization: study in pediatric cases].

PURPOSE: To increase the management of self-catheterization in children of school age, a catheter kit consisting of hydrophilic catheter and a packet containing sterilized water was developed. We evaluated the lubricating characteristic and clinical efficacy of this new catheter kit. MATERIALS AND METHODS: The catheter kit used in the study was a pocket-size plastic container in which a polyurethane catheter coated with hydrophilic polymer and a packet containing sterilized water were packed in combination. The lubricating characteristic of catheter was assessed by the measurement of friction value. For clinical assessment, male children aged over 6 years old who were doing self-catheterization at 17 medical institutions nationwide were selected as the subjects. The 32 children who had given informed consent (mean age: 11.6 years old) were asked to use the catheter kit continuously for 1 week. The results were investigated by a questionnaire survey in which the assessment before and after the use was expressed in scores. At the same time, urinalysis and urine culture were examined. RESULTS: The friction value of hydrophilic catheter was equivalent to or less than that observed by applying a lubricant to the conventional catheter. The comparison of conventional catheter with the kit indicated significantly higher scores (assessment in 5 grades expressed in scores) for the portability and operability of the kit. Though there was no significant difference in the ease of insertion between the two catheters, there were several comments that the kit got stuck in the urethra when it was withdrawn. The global assessment gave a significantly higher score to the kit and 30 (94%) of the 32 children wanted to use the kit continuously. No increase in hematuria which caused a clinical problem or no new apparent urinary tract infection occurred after the use of the kit. CONCLUSIONS: Compared with the conventional catheter, the hydrophilic catheter kit highly satisfied a large number of children at the time of self-catheterization. Depending on the condition of children, the kit is considered useful for continued self-catheterization for a long term.

[Clinical review of 39 cases with ectopic ureteroceles].

BACKGROUND: There are many controversies surrounding the management of ectopic ureteroceles (EUC). The aim of this study is to review our cases with EUCs and to show our policy of choice of treatments of EUCs. METHODS: The medical records of 39 patients with EUCs treated at Kobe. Children's Hospital from 1978 to 1998 were reviewed retrospectively. Patients' age, affected site, presentation, treatment, and postoperative course were recorded. RESULTS: The age at presentation ranged from 0 month to 13 years (mean; 6 years). The left EUCs were found in 15 patients, the right in 17 patients, and the bilateral in 7 patients. The EUCs with duplicated system of the kidney were involved in 35 cases (42 kidneys) and single system in 4 cases (4 kidneys). The most common mode of presentation was urinary tract infection (n = 24) followed by abdominal distention (n = 6) and fetal ultrasonography (n = 6). One patient presented with incontinence and in two patients EUCs were discovered incidentaly. Thirty-five cases (42 kidneys) were followed up over six months. In these cases diversion including nephrostomy and ureterostomy was performed in 5 kidneys, heminephrectomy and/or excision of the EUC and ureteral reimplantation in 8 kidneys, nephrectomy in 3 kidneys, pyeloureterostomy in 2 kidneys, excision of the EUC and ureteral reimplantation in 10 kidneys, and transurethral incision (TUI) of the EUC in 14 kidneys. After these treatments the second surgery was totally required in 15 kidneys(36%) including 7 kidneys in which TUI was performed. Furthermore, in two kidneys the third operation was performed. CONCLUSIONS: Reoperation was required in about one-third of patients with ectopic ureteroceles. It is easy to perform TUI, however the rate to reoperation is high.

Relief of airway compression by enlarged pulmonary artery--modified palliative suspension of the artery after plication.

A new modification of the technique for plication and suspension of the pulmonary artery in critically ill infants and children is described. The technique consists of (1) left lobe thymectomy, (2) insertion of a polytetrafluoroethylene sheet to provide complete coverage of pericardium, (3) plication of dilated pulmonary artery and (4) suspension of plicated pulmonary artery to the left side of the anterior chest wall. We employed this technique in 7 patients with respiratory distress due to tracheal and/or broncheal compression with massive left-to-right shunt (5 patients) and with absent pulmonary valve (2 patients). Five of these patients (71%) could be weaned from the respirator in the postoperative phase with this surgery. Although this procedure is palliative, this simple technique might be one of the choices for critically ill infants and children.

[Gastrocytoplasty in pediatric patients--initial clinical experience with 5 cases].

Gastrocytoplasty was undertaken for 5 patients with bladder dysfunction and incontinence caused by neurogenic bladder in 3 cases, bladder exstrophy in 1 case and trauma in 1 case respectively. The age of the patients ranged from 5 years through 14 years at the operation. Decreased renal function was recognized in 3 cases with neurogenic bladder before reconstruction. The other 2 cases had normal renal function. Gastric segment was isolated with right gastroepiploic artery as a pedicle. Bladder was opened vertically and augmented with gastric segment. In 4 cases urethrogastrostomy with submucosal tunnel was performed in both sides. In neurogenic bladder cases, urethra was left without any surgical intervention, while other 2 cases underwent continent diversion using Mitrofanoff principle with urethra being closed. Postoperative follow up period was 18 to 22 months. All cases had increased bladder volume and the dilatation of upper urinary tract disappeared or decreased in size in those who had upper urinary tract dilatation before operation. Urinary incontinence completely disappeared in continent diversion cases. In neurogenic bladder cases urinary leakage through urethra was negligible with 4 hour interval clean intermittent catheterization. Laboratory examination showed no metabolic derangement in blood gas analysis and electrolytes even in those who had decreased renal function. Blood urea nitrogen (BUN) and serum creatinine showed a little improvement or the same level as before. We didn't encounter any troubles in CIC such as the obstruction caused by mucus produced by gastric segment. From our experience with those 5 pediatric cases underwent gastrocystoplasty, we thought gastric segment had some advantage as a tissue for augmentation cystoplasy compared with intestinal segment.

Changing concepts of hypospadias curvature lead to more onlay island flap procedures.

From 1987 through 1992, 1,109 primary hypospadias operations were performed at our hospital, of which 374 (33%) were onlay island flap procedures. In contrast, from 1982 to 1987 only 66 of 657 primary hypospadias repairs (10%) were onlay island flaps. The increase in this type of repair stems from the observation that in most cases of hypospadias the urethral plate is not the cause of penile curvature. Intraoperative artificial erection after skin take down revealed that only 50 of the 374 patients (13%) still had a significant bend. After experience demonstrated that the residual bend was not due to a fibrous urethral plate, but rather to a generally mild (20 to 30 degree) corporeal disproportion, correction was achieved by dorsal tunica albuginea plications. We conclude that better healing of the onlay flap to spongiosum supported urethral plate may account for the lower fistula rate (6%) observed with the onlay island flap hypospadias repair, and even in severe cases of hypospadias the urethral plate is usually healthy and it does not require division to produce a straight penis.

[Surgical managements of the compression of trachea and/or bronchus associated with congenital cardiovascular anomalies].

From 1987 through 1990, 17 cases with tracheal and/or bronchial compression due to congenital cardiovascular malformations were experienced at our institutes. Respirator was required preoperatively in 10 patients (59%) due to severe respiratory symptoms by airway compression and narrowing. In all cases, bronchoscopy was carried out pre- or intra-operatively for the precise diagnosis and for the decision of operative procedures. Postoperatively 12 cases were successfully extubated and remained free of respiratory distress. We investigated the relationships among pre- and post-operative pressure ratio, preoperative flow ratio, requirement of preoperative respirator and indication for plication and suspension of pulmonary artery in the group of the patients, who had airway compression by the dilated pulmonary artery due to large left to right shunt. As a result of this investigation, these factors have no significant correlation. The severity of associated tracheomalacia might be a most susceptible cause, which required the preoperative managements with respirator and the surgical interventions to the dilated pulmonary artery. Infant with patent ductus arteriosus (PDA) could be surgically treated by the division of PDA through left lateral thoracotomy. If the left main bronchus shows complete obstruction after division of PDA, the additional surgical intervention like suspension of aortic arch is needed. Two cases were lost with reoperation and these suggested not only the priority of simultaneous repair of trachea and cardiovascular anomaly, but the necessity of minor intervention against adhesion (insertion of Gore-Tex sheet between suspended pulmonary artery and sternum) in the first-step palliative operation.(ABSTRACT TRUNCATED AT 250 WORDS)

[An experiment of acute fulminant severe ulcerative colitis in a 75- year-old male--a case report and a consideration of the surgical treatment of elderly patients with severe ulcerative colitis].

This is a case report of 75 year-old male patient with acute fulminant severe ulcerative colitis who underwent proctocolectomy after emergency ileostomy and decompression colostomy, and consideration of surgical treatment for elderly patients with severe ulcerative colitis are also discussed. A 75 year-old male was hospitalized as emergency case with complaints of high fever, severe abdominal pain and diarrhea. He was diagnosed as acute fulminant ulcerative total colitis by colonoscopy and barium enema examination. He had urgent operation of ileostomy and decompression cecostomy in the presence of severe disease after intensive medical treatment had failed. After a few days toxic signs gradually disappeared and general status was slightly improved. And then, radical operation of proctocolectomy and permanent ileostomy was successfully performed 3 weeks after the previous operation. We wish to emphasize in the elderly patients, namely 60 years and over with severe ulcerative colitis, that radical surgical treatment such as proctocolectomy or total colectomy should be performed after minimal laparotomy with decompression colostomy and ileostomy, because they do not survive so readily as the younger patients.

Reconstructive surgery for cloacal anomalies.

This paper describes a variety of surgical techniques which have been employed in three patients with cloacal anomalies, at the Kobe Children's Hospital during a period from 1977 to 1983. The patients presented with malformations in which the urethra, vagina and rectum converge at the high level of cloaca. Staged approach was mandatory in these patients. A loop colostomy with the distal loop of colon separated from the fecal stream and a decompressing vaginostomy are the initial procedures for this form of malformations. Vaginoplasty is required in some patients for pullthrough to the perineum. In those in whom the vagina and colon are separately pulled through, a posterior sagittal approach is convenient.

Febrile convulsions and rolandic discharges.

Clinical and electroencephalographic assessments were performed on 39 children with febrile convulsions showing EEG evidence of rolandic discharges and 23 epileptic children showing rolandic discharges with a preceding history of febrile convulsions. Ten families in which EEGs from the proband and his (or her) sibling or cousin demonstrated rolandic discharges were also described. The results of these studies stress a close genetic relationship between febrile convulsions with rolandic discharges and focal seizures or generalized convulsions that occur during sleep, namely, benign epilepsy of childhood with rolandic discharges. This indicates that the febrile convulsions with rolandic discharges constitute a particular subtype of febrile convulsions.