Tethered cord in children with anorectal malformations with emphasis on rectobladder neck fistula.

PURPOSE: To find the incidence of tethered cord (TC) in patients with anorectal malformations (ARM) and to determine the relationship between bowel/urinary control and TC in a subset of patients with rectobladder neck fistula (RBNF). METHODS: The database of a tertiary medical center was retrospectively collected for all patients treated for ARM from 1980 to 2012. All patients with TC and RBNF were identified. RESULTS: Among 790 patients, who underwent screening for TC, 285(36%) were diagnosed with TC. Eleven of 37 screened patients with RBNF were diagnosed with TC. The median follow-up period was 49 months (range 2-222 months). TC was diagnosed in 3/18(16.6%) patients with sacral ratio (SR) ≥ 0.7; 4/12(33.3%) with SR 0.41-0.69; and 4/7(57.1%) patients with SR 0-0.4. The association of TC in RBNF patients had a negative influence in the prognosis for bowel and urinary control. CONCLUSION: The incidence of TC among patients with ARM is 36%. Incidence of TC among patients with RBNF correlates with SR value and is higher with lower SR. Patients with RBNF and TC have dismal prognosis for bowel control, unrelated to their SR status. Many unresolved questions related to the management of ARM patients with asymptomatic TC still remain.

Cryopreservation of in vitro matured oocytes in addition to ovarian tissue freezing for fertility preservation in paediatric female cancer patients before and after cancer therapy.

STUDY QUESTION: Is a protocol that combines in vitro maturation of germinal vesicle-stage oocytes and their vitrification with freezing of cortical ovarian tissue feasible for use in fertility preservation for both chemotherapy-naive paediatric patients as well as patients after initiation of cancer therapy? SUMMARY ANSWER: Follicle-containing ovarian tissue as well as oocytes that can undergo maturation in vitro can be obtained from paediatric patients (including prepubertal girls) both before and after cancer therapy. WHAT IS KNOWN ALREADY: Anticancer therapy reduces the number of follicles/oocytes but this effect is less severe in young patients, particularly the paediatric age group. Autotransplantation of ovarian tissue has yielded to date 60 live births, including one from tissue that was cryostored in adolescence. However, it is assumed that autografting cryopreserved-thawed ovarian cortical tissue poses a risk of reseeding the malignancy. Immature oocytes can be collected from very young girls without hormonal stimulation and then matured in vitro and vitrified. We have previously shown that there is no difference in the number of ovarian cortical follicles between paediatric patients before and after chemotherapy. STUDY DESIGN, SIZE, DURATION: A prospective study was conducted in a cohort of 42 paediatric females with cancer (before and after therapy initiation) who underwent fertility preservation procedures in 2007-2014 at a single tertiary medical centre. PARTICIPANTS/MATERIALS, SETTING, METHODS: The study group included girls and adolescent females with cancer: 22 before and 20 after chemotherapy. Following partial or complete oophorectomy, immature oocytes were either aspirated manually ex vivo from visible small antral follicles or filtered from spent media. Oocytes were incubated in oocyte maturation medium, and those that matured at 24 or 48 h were vitrified. Ovarian cortical tissue was cut and prepared for slow-gradual cryopreservation. Anti-Mullerian hormone (AMH) levels were measured in serum before and after oophorectomy. MAIN RESULTS AND ROLE OF CHANCE: Ovarian tissue was successfully collected from 78.7% of the 42 patients. Oocytes were obtained from 20 patients before chemotherapy and 13 after chemotherapy. The youngest patients from whom oocytes were retrieved were aged 2 years (two atretic follicles) and 3 years. Of the 395 oocytes collected, ∼30% were atretic (29.6% in the pre-chemotherapy group, 37% in the post-chemotherapy group). One hundred twenty-one oocytes (31%) were matured in vitro and vitrified: 67.8% from patients before chemotherapy, the rest after chemotherapy. Mature oocytes suitable for vitrification were obtained from 16/20 patients before chemotherapy and from 12/13 patients after chemotherapy (maturation rate, 32 and 26.4%, respectively). There were significant correlations of the number of vitrified oocytes with patient age (more matured oocytes with older age) (P = 0.001) and with pre-oophorectomy AMH levels (P = 0.038 pre-chemotherapy group, P = 0.029 post-chemotherapy group). Oocytes suitable for vitrification were obtained both by manual aspiration of antral follicles (45%) and from rinse solutions after dissection. There were significantly more matured oocytes in the pre-chemotherapy group from aspiration than in the post-chemotherapy group after both aspiration (P < 0.033) and retrieval from rinsing fluids (P < 0.044). The number of pre-antral follicles per histological section did not differ in the pre- versus post-chemotherapy. AMH levels dropped by approximately 50% after ovarian removal in both groups, with a significant correlation between pre- and post-oophorectomy levels (P = 0.002 pre-chemotherapy group, P = 0.001 post-chemotherapy group). LIMITATIONS, REASONS FOR CAUTION: There were no patients between 5 years and 10 years old in the post-chemotherapy group, which might have affected some results and correlations. Oocytes from patients soon after chemotherapy might be damaged, and caution is advised when using them for fertility-restoration purposes. The viability, development capability and fertilization potential of oocytes from paediatric patients, especially prepubertal and after chemotherapy, are unknown, in particular oocytes recovered from the media after the tissue dissection step. WIDER IMPLICATIONS OF THE FINDINGS: Although more oocytes were collected and matured from chemotherapy-naïve paediatric patients, ovarian tissue and immature oocytes were also retrieved from young girls in whom cancer therapy has already been initiated. Our centre has established a protocol for potential maximal fertility preservation in paediatric female patients with cancer. Vitrified-in vitro-matured oocytes may serve as an important gamete source in paediatric female patients with cancer because the risk of reseeding the disease is avoided. Further studies are needed on the fertility-restoring potential of oocytes from paediatric and prepubertal patients, especially after exposure to chemotherapy. STUDY FUNDING/COMPETING INTERESTS: The study was conducted as part of the routine procedures for fertility preservation at our IVF unit. No funding outside of the IVF laboratory was received. Funding for the AMH measurements was obtained by a research grant from the Israel Science Foundation (to B.-A.I., ISF 13-1873). None of the authors have competing interests. TRIAL REGISTRATION NUMBER: N/A.

Optimizing the process of fertility preservation in pediatric female cancer patients - a multidisciplinary program.

BACKGROUND: Current evidence indicates sub-optimal incidence of fertility preservation (FP) in eligible patients. We present herein our designated multidisciplinary program for FP in pediatric and adolescent population and present our data on FP in female patients. METHODS: Pediatric patients (age 0-18) who were candidate for highly gonadotoxic treatments were referred to FP program for a multidisciplinary discussion and gonadal risk-assessment followed by either oocyte cryopreservation or ovarian cryopreservation (OCP) for female patients, and sperm banking for male patients. The OCP protocol consists of aspiration of oocytes from small antral follicles and in-vitro maturation followed by cryopreservation, as well as ovarian tissue cryopreservation. RESULTS: The establishment of a designated FP program resulted in a significant increase in referral and subsequent FP procedures of all eligible patients. Sixty-two female patients were referred for FP discussion during a period of 36 months; 41 underwent OCP; 11 underwent oocyte cryopreservation and six were declined due to parental decision. The median age was 13.2y (range 18 months-18y). Thirty-two (51.6 %) were chemotherapy-naïve. Seventeen patients (27 %) had sarcoma, 16 patients (26 %) had acute leukemia. The mean number of mature oocytes that were eventually vitrified was significantly higher in chemotherapy-naïve patients compared with chemotherapy-exposed patients (mean 12 oocytes (1-42) versus 2 (0-7)). CONCLUSION: Multidisciplinary programs that encompass experts of all relevant fields, skilled laboratory resources and a facilitated path appear to maximize the yield. We observed a considerable higher referral rates following launching a designated program and earlier OCP in chemo-naïve patients that culminated in a better fertility preservation procedure.

Occipital and parietal cortex participate in a cortical network for transsaccadic discrimination of object shape and orientation.

Saccades change eye position and interrupt vision several times per second, necessitating neural mechanisms for continuous perception of object identity, orientation, and location. Neuroimaging studies suggest that occipital and parietal cortex play complementary roles for transsaccadic perception of intrinsic versus extrinsic spatial properties, e.g., dorsomedial occipital cortex (cuneus) is sensitive to changes in spatial frequency, whereas the supramarginal gyrus (SMG) is modulated by changes in object orientation. Based on this, we hypothesized that both structures would be recruited to simultaneously monitor object identity and orientation across saccades. To test this, we merged two previous neuroimaging protocols: 21 participants viewed a 2D object and then, after sustained fixation or a saccade, judged whether the shape or orientation of the re-presented object changed. We, then, performed a bilateral region-of-interest analysis on identified cuneus and SMG sites. As hypothesized, cuneus showed both saccade and feature (i.e., object orientation vs. shape change) modulations, and right SMG showed saccade-feature interactions. Further, the cuneus activity time course correlated with several other cortical saccade/visual areas, suggesting a 'functional network' for feature discrimination. These results confirm the involvement of occipital/parietal cortex in transsaccadic vision and support complementary roles in spatial versus identity updating.

Damage to the human dentate gyrus impairs the perceptual discrimination of complex, novel objects.

The hippocampus (HPC), and the dentate gyrus (DG) subregion in particular, is purported to be a pattern separator, orthogonally representing similar information so that distinct memories may be formed. The HPC may also be involved in complex perceptual discrimination. It is unclear if this role is limited to spatial/scene stimuli or extends to the discrimination of objects. Also unclear is whether the DG itself contributes to pattern separation beyond memory. BL, an individual with bilateral DG lesions, was previously shown to have poor discrimination of similar, everyday objects in memory. Here, we demonstrate that BL's deficit extends to complex perceptual discrimination of novel objects. Specifically, BL was presented with closely matched possible and impossible objects, which give rise to fundamentally different 3D perceptual representations despite being visually similar. BL performed significantly worse than controls when asked to select an odd object (e.g., impossible) amongst three identical counterpart objects (e.g., possible) presented at different rotations. His deficit was also evident in an atypical eye fixation pattern during this task. In contrast, BL's performance was indistinguishable from that of controls on other tasks involving the same objects, indicating that he could visually differentiate the object pairs, that he perceived the objects holistically in 3D, and that he has only a mild weakness in categorizing object possibility. Furthermore, his performance on standardized neuropsychological measures indicated intact mental rotation, visual-spatial attention, and working memory (visual and auditory). Collectively, these results provide evidence that the DG is necessary for complex perceptual discrimination of novel objects, indicating that the DG might function as a generic pattern separator of a wide range of stimuli within high-level perception, and that its role is not limited to memory.

Inflammatory pseudotumor in childhood. A diagnostic and therapeutic dilemma.

We describe a case of inflammatory pseudotumor of the lower abdomen in a young child. The urinary bladder and abdominal wall were involved, and the pseudotumor simulated a malignant sarcomatous tumor. Surgical excision was undertaken, and the outcome was favorable. This rare tumor simulates a true neoplasm both clinically and morphologically and presents a diagnostic and therapeutic dilemma. Our case and a review of the literature indicate that an effort should be made to perform a radical excision. This is considered the treatment of choice except if it requires a mutilating procedure.

Familial chronic recurrent pancreatitis in identical twins. Case report and review of the literature.

Familial presentation of chronic recurrent pancreatitis in childhood is rare. The etiology of this illness is obscure, and its hereditary properties are not well defined. Simultaneous occurrence of chronic recurrent pancreatitis in identical twins with the same clinical presentation and similar typical pancreatographic abnormalities is exceptional. Twin sisters, aged 9 years, were admitted to the hospital because of recurrent attacks of pancreatitis. Ultrasound examination revealed an enlarged irregular pancreatic duct in both girls, and endoscopic retrograde cholangiopancreatography showed a distorted duct with multiple strictures and dilatations similar to a "chain of lakes" pattern. Both patients underwent longitudinal pancreatojejunostomy within a month. The therapeutic regimen and preoperative and surgical treatment of such patients are discussed, as is the optimal timing of intervention.

High frequency of loss of heterozygosity for 1p35-p36 (D1S247) in Wilms tumor.

We analyzed the loss of heterozygosity (LOH) for 1p in 18 Wilms tumors using a panel of 11 polymorphic markers. Loss of heterozygosity was identified in 56% of the tumors. The smallest region of overlap was defined for marker D1S247, underlying the 1p35-1p36.1 locus. This is the highest LOH frequency for 1p, or for the well-defined 11p13 and 11p15.5 loci. Based on the fact that tumors of all stages, with both favorable and unfavorable histology, exhibited LOH, we suggest that the 1p35-1p36.1 locus is involved in the etiology of Wilms tumor.

Long-term follow-up of partial splenectomy in Gaucher's disease.

Seven children with Gaucher's disease who underwent partial splenectomy were followed for 7 to 8 years. None of the children had systemic sepsis or symptoms related to liver enlargement. Bone crisis occurred in only two children who had experienced bone crisis prior to partial splenectomy. This contrasts with the development of bone crises in five of six children who underwent total splenectomy at a similar age and who had previously been free of bone symptoms. Partial splenectomy should be regarded as a temporary solution in the treatment of hypersplenism and the mechanical compression related to the huge spleen. In 71% of the patients, massive enlargement and a severe to moderate degree of pancytopenia occurred again after 3 to 8 years; total splenectomy was required in three patients.

Minimally invasive surgery in pediatric endocrinology.

The use of minimally invasive surgery (MIS) in children and adolescents is steadily increasing. The aim of the present review was to summarize the status of MIS in pediatric endocrinology. We found that laparoscopic procedures have been proven useful for the diagnosis or treatment of endometriosis and its associated manifestations, undescended testicles, ambiguous genitalia, adnexal torsion and ovarian cyst. Considering the safety and efficacy of these applications, the more rapid recovery of the patients, and the considerably less pain induced, we believe MIS will gradually take precedence over standard procedures in many areas of endocrinology in the young population.

Vertical partial splenectomy for epidermoid cyst.

Benign lesions of the spleen usually can be surgically removed by partial splenectomy. When the lesion is longitudinal and occupies most or the entire length of the spleen, partial splenectomy using the common surgical technique, based on the distribution of the organ's blood supply, is impossible. A new approach for "vertical" partial splenectomy for epidermoid cyst is described, using splenic artery occlusion and straight suture needles.

Clinical presentation of rare appendiculo-omphalic anomalies.

The umbilicus is the site of a number of well-recognized and unusual congenital anomalies. The authors report two rare anomalies of the umbilicus, one involving the appendiceal artery and the other the appendix vermiformis.

Should repeated partial splenectomy be attempted in patients with hematological diseases? Technical pitfalls and causes of failure in Gaucher's disease.

BACKGROUND/PURPOSE: The awareness of the risk of overwhelming sepsis after splenectomy prompted surgeons to attempt splenic preservation in patients who had hematologic diseases for which splenectomy was the conventional treatment. Partial splenectomy for Gaucher's disease was widely performed before the introduction of alglucerase. In sporadic cases a second partial splenectomy had also been attempted. METHODS: The authors present three cases of failed repeated partial splenectomy attempted before alglucerase was available. The role of angiography in planning operative strategy and the surgical pitfalls of this unusual reintervention are discussed. CONCLUSION: New indications for partial splenectomy in other hematologic diseases makes the experience gained with Gaucher's disease valuable for management decisions.

Transaxillary upper thoracic sympathectomy for primary palmar hyperhidrosis in children and adolescents.

Primary palmar hyperhidrosis is part of a triad of palmar, plantar, and axillary hyperhidrosis of unknown etiology, affecting children, adolescents, and young adults. Sixty-seven children and young adolescents were operated on during a 10-year period. A total of 103 transaxillary upper thoracic sympathectomies (36 bilateral) were performed, with no mortality. The immediate postoperative course was uneventful in 90%; the other 10% had mostly minor problems. The average hospitalization period was 3 to 4 days. Total abolition of palmar sweating was achieved in all but two patients in whom some residual moisture remained. Long-term extreme satisfaction was reported by 64 of 67 patients (94%). One was moderately satisfied, and two were not satisfied because of excessive "compensatory" sweating elsewhere. Compensatory sweating of some degree was reported by 45% of patients but did not alter satisfaction. By further limiting ganglionectomy to just one ganglion (T2 or T3), compensatory sweating possibly may be reduced further. Early surgery for severe palmar hyperhidrosis will save a child many years of agony and social discomfort because all types of conservative therapy are ineffective and cause unnecessary delay. A limited transaxillary upper thoracic sympathectomy is presently the authors' preferred approach, although ablation via thoracoscopy should not be excluded as further experience is gained with this modality.

Bridging of esophageal defects with lyophilized dura mater: an experimental study.

The aim of this study was to investigate the use of a prosthetic biologic material-lyophilized dura mater (Lyodura) in patching esophageal defects in dogs, having in view its potential use in bridging long gap congenital esophageal atresia and patching acquired esophageal defects. To follow the incorporation process, 20 mongrel dogs had full-thickness, 6 cm2 cervical esophageal defects, patched with Lyodura. The dogs were sacrificed at different postoperative periods and the patched esophagus removed for gross and microscopic examination. In a second group of 10 dogs, a segment of the esophagus was excised and replaced by 3 cm in length and 2 cm in diameter, Lyodura tubes. In this group, prolonged follow-up was undertaken including radiologic, endoscopic, and histological assessment. Special attention was given to the swallowing function and to growth and development. This study shows that: (1) the area of prosthetic replacement was characterized by a narrowing of the esophageal wall and the histopathologic study showed that the epithelialization process was complete in about 2 months; and (2) muscle reconstruction did not take place at the patched areas. We conclude that, pending further studies and improvement, lyophilized dura mater can be considered as a successful alternative for bridging esophageal defects.

Left ovarian cyst and right streak ovary in a neonate with a normal karyotype. Report of a case of neonatal Slotnick-Goldfarb syndrome or recessive gonadal dysgenesis.

A female neonate with a streak ovary on one side and huge ovarian cyst on the other side is presented. Her karyotype was 46,XX. Adnexectomy was mandatory, leaving the patient with a single streak gonad. Whether this infant has the recessive form of gonadal dysgenesis with one ovary, streak or hypoplastic, replaced by a cyst or the Slotnick-Goldfarb syndrome is impossible to elucidate at present. The potential implications of a streak gonad, either related to gonadal dysgenesis or as a possible source of neoplasia, are reviewed. Current approaches to an ovarian cyst and streak ovary in the neonatal period are discussed.

Neonatal labioperineal tear from fetal scalp electrode insertion. A case report.

Intrauterine electronic fetal heart monitoring is a widely used tool in diagnosing intrauterine fetal distress. We describe a case of successful conservative treatment for a neonatal labioperineal tear caused by scalp electrode application during breech delivery.

Anal stenosis with megarectum: an unusual complication of a perineal burn.

A case of a 3-year-old boy with anal stricture and megarectum is described. Overflow incontinence and soiling were corrected by local flaps and skin graft and were maintained by frequent dilatations after downward traction of the whole anus was performed. The options of immediate and late treatment of such burns and the colostomy procedure are discussed.

The distal pouch in esophageal atresia -- to dissect or not to dissect, that is the question.

Long-gap esophageal atresia remains a difficult problem for the pediatric surgeon and reconstruction using the native esophagus is considered to be superior to any interposition procedure. Because of esophageal segmental blood supply and vascular vulnerability of the distal esophageal pouch in the short term and its motility disorder in the long term, surgeons are reluctant to perform extensive esophageal dissection. However, ascending and descending branches of esophageal vessels converge along the anterolateral and posterolateral aspects of the esophagus. This arrangement allows for dissection and mobilization of the distal pouch without necessarily causing vascular impairment. Extensive dissection of the distal pouch was advocated by Robert Gross over fifty years ago. More recently, circular myotomy of the distal pouch has been performed. However, manometric studies showed that prior to surgical repair, peristalsis of the upper and lower esophageal pouch was synchronized, while after surgery this coordination was clearly defective. Furthermore, in the adriamycin-induced rat model, inherent abnormalities in the course and branching pattern of the vagus nerves in the lower esophagus have been demonstrated. Significant abnormalities of the intramural nervous components involving both the excitatory and inhibitory nerves, and elevated levels of S100 and galanin in the lower esophageal pouch could explain an inborn motility disorder. The selective injury of minor vagal branches in experimental animals also alters esophageal peristalsis. In conclusion, given that the native esophagus is still considered the best alternative for reconstruction of esophageal atresia, when indicated, gentle but extensive dissection of the lower esophageal pouch seems to be preferable, keeping in mind the possibility of vascular compromise and the inevitability of motility disfunction.

Skin level division of percutaneous endoscopic gastrostomy without endoscopy retrieval: a hazardous procedure.

Percutaneous endoscopic gastrostomy (PEG) has become the method of choice for long-term enteral access in the pediatric population. Since its introduction, several common complications have been described. Less well known is the danger of removing or replacing a PEG by cutting the device at skin level without endoscopic assistance to ensure the complete removal of all parts. The aim of the present work is to describe a patient in whom gastrostomy parts were retained after PEG removal, causing bowel obstruction and perforation.