Trans-scrotal treatment of giant bilateral abdominoscrotal hydroceles in a 7-month-old boy.

Abdominoscrotal hydrocele (ASH) is a rare condition characterized by a large scrotal and abdominal fluid-filled sac. An inguinal surgical approach is generally described in literature. We report the case of a 7-month-old child who underwent surgical repair of bilateral ASH through bilateral transverse scrotal incisions. The scrotal approach enabled optimal visibility and access to the hydrocele sacs. Separation of the sac from the testicular pedicle was possible with excellent control. Complete excision of the sac was performed. The postoperative course was uneventful. Follow-up after three years shows an excellent result. We recommend ASH repair through a transverse scrotal incision.

Testicular tissue cryopreservation for fertility preservation in prepubertal and adolescent boys: A 6 year experience from a Swiss multi-center network.

Testicular tissue cryopreservation is the only option of fertility preservation in prepubertal boys. While it is considered experimental, since procedures to obtain mature spermatozoa from prepubertal testicular tissue are still under development, testicular tissue cryopreservation programs have emerged worldwide. Our aim was to study the feasibility and safety of a program of testicular tissue cryopreservation in prepubertal and adolescent boys facing gonadotoxic treatment in three University hospitals in Switzerland. Testicular tissue cryopreservation was accepted by 90% of families, with a total of 35 patients included. The average patient age was 8.5 years (range 7 months to 18.5 years). Malignancies were the most common diagnosis (31 patients, 88.6%) with 16 (45.7%) solid tumors and 15 (42.9%) hematological malignancies. Four (11.4%) patients had a benign condition. The main indication for testicular tissue cryopreservation was conditioning for hematologic stem cell transplantation (25 patients, 71.4%). Testicular tissue was cryopreserved according to the freezing protocol of Louvain Catholic University (Belgium), which includes either only immature testicular tissue freezing, or mature and immature testicular tissue freezing depending on the age of the patient and the presence or absence of haploid cells. The median number of spermatogonia per tubule cross-section was 2 (range 0-6) and spermatozoa were found in only one patient. Tumoral cells were found in one testicular biopsy of a leukemic patient. There were two minor adverse events and none of them required medical treatment or surgical revision. Five patients died during follow-up. Our data demonstrate the feasibility and safety of a program of testicular tissue cryopreservation coordinated by a multidisciplinary team of fertility preservation. Despite the experimental aspect of the procedure, the acceptation rate was high, which highlights the willingness of families and patients to participate in testicular tissue cryopreservation.

A Swiss database and biobank to better understand and manage congenital lung anomalies.

Congenital lung anomalies are a group of rare malformations, often diagnosed during the prenatal period. Guidelines on how to manage these patients are currently under debate, especially with regard to prophylactic surgery in asymptomatic patients, or how to proceed with conservative follow-up. Currently, there is no clear consensus on management strategies. A Swiss congenital lung anomaly national database and biobank was created in 2016 to enable data recording and collection of surgical lung samples in order to help define the most appropriate management strategies. This national observational cohort study represents an important step towards a better understanding of the pathophysiology and clinical course of the diseases included under congenital lung anomalies, especially in the context of a small country like Switzerland.

Safely Decreasing Rigid Bronchoscopies for Foreign-Body Aspiration in Children: An Algorithm for the Emergency Department.

INTRODUCTION: Rigid bronchoscopy was traditionally performed in the management of foreign-body aspiration (FBA). More recently, since development of a less invasive method, flexible bronchoscopy has been proposed in some centers for the management of FBA. For the past few years, we have applied a decisional algorithm, privileging flexible bronchoscopy for diagnosis and, in some cases, for extraction of foreign body (FB). Our aims are first to analyze our current management of FBA and second to examine the bronchoscopic findings and complications. MATERIALS AND METHODS: Retrospective medical chart review of all patients with clinical suspicion of FBA who underwent bronchoscopy (flexible and/or rigid) from 2009 through 2014. RESULTS: An FB was found in 23 (33%) of the 70 patients included in the study (45 boys, 25 girls; median age: 21.5 months). Diagnosis of FBA was made on first intention in 22/23 (96%) and extraction was performed in 7/23 (30%) by flexible bronchoscopy. Rigid bronchoscopy was necessary for the extraction of the 16/23 (70%) remaining FBs. The rigid procedure was performed as first intention in only two (3%) patients, and one of the two was negative. Among the clinical signs of FBA, none were > 90% specific except for apnea (100%), but which was poorly sensitive (22%). Seven clinical and radiologic signs were found to be significantly different between FB+ and FB- groups: sudden choking, cyanosis, apnea, decreased breath sounds, atelectasis, mediastinal shift, and air trapping. Conversely, when none of these symptoms or signs and no clear history of sudden choking were present (in 15/70 patients), no FB was found. No life-threatening complications or death were observed. CONCLUSION: Our current management of FBA allows us to avoid almost all negative rigid bronchoscopies. In addition, we identified some symptoms and clinical and radiologic signs whose absence was highly predictive of negative bronchoscopy. We propose a novel algorithm for management of FBA that will help decrease the number of negative bronchoscopies.

Tracheal agenesis: optimization of computed tomography diagnosis by airway ventilation.

Tracheal agenesis is a rare and often lethal congenital defect that leads to airway emergency at birth. Computed tomography (CT) is the modality of choice to evaluate anomalous tracheal anatomy. The absence of spontaneous aeration of the tracheobronchial tree in children with tracheal agenesis makes CT interpretation difficult. We describe a procedure of airway management applied in two newborns with suspected tracheal agenesis. Correct airway management was performed immediately prior to CT examination by airway ventilation, with bag-valve mask alone in one case, and attached to an endotracheal tube placed into the esophagus in the other case. The images allowed for classification of tracheal agenesis. Computed tomography with appropriate airway ventilation is fundamental for the diagnosis of tracheal agenesis.

[Diagnosis and management of testicular torsion in children]. / Diagnostic et prise en charge de la torsion testiculaire chez l'enfant.

Testicular torsion is a true urologic emergency with a bimodal age presentation : the perinatal testicular torsion presenting with a hard, tender or non-tender scrotal mass usually with underlying dark discoloration of the skin and the peripubertal testicular torsion presenting with severe acute testicular pain, vomiting and frequently pain irradiation in the inguinal area, a high riding-horizontally positioned testis and absence of the cremasteric reflex. Obtaining a US Doppler must not add unnecessary delay to the urgent surgical treatment which entails detorsion and bilateral orchidopexy. We do not recommend manual detorsion as around 30 % of testis rotate externally. Up to 50 % of patients presenting with a testicular torsion suffered beforehand from intermittent testicular pain episodes.

La torsion testiculaire est une urgence urologique avec deux âges de présentation. La période périnatale, avec un « scrotum aigu ¼ (bourse bleuâtre ou rouge, tuméfiée, avec ou sans douleurs), présent à la naissance ou dans les jours qui suivent et les torsions plus tardives, se manifestant par des douleurs testiculaires aiguës avec irradiation abdominale, une perte du réflexe crémastérien, une position ascensionnée et horizontalisée du testicule et parfois des vomissements. Le diagnostic est clinique et l'examen radiologique ne doit pas retarder l'exploration chirurgicale urgente avec détorsion et fixation testiculaire bilatérale. La détorsion manuelle externe est déconseillée, le sens de rotation du testicule étant aléatoire. 50 % des torsions testiculaires sont précédées d'épisodes de douleurs testiculaires intermittentes.

Are Scores Reliable in Predicting the Need for Surgery and Mortality in Necrotizing Enterocolitis?

Background Management of children with necrotizing enterocolitis (NEC) remains challenging. Various scores try to facilitate therapeutic decision-making. We aim to assess the agreement of three scores intending to predict the need for surgery and/or mortality in our patient cohort, and analyze agreement between the different scores. Methods This study is a retrospective analysis of patients with NEC Bell's stage II and III, managed in a single institution (1991-2011). Three existing scores (Metabolic Derangement Acuity score, NEC score, Detroit score) were calculated individually for each patient. The agreement between predicted outcome by scores and real outcome was evaluated with kappa statistic. Results Of 57 children, 46% presented with NEC stage II, 54% with stage III, 46% were treated with surgery, 54% conservatively, and survival was 58%. The kappa indexes for "need for surgery" were 0.41, 0.13, and 0.12 and kappa indexes for "mortality" were 0.27, 0.04, and 0.1 for the Metabolic Derangement Acuity score, the NEC score, and the Detroit score, respectively. Conclusion In our cohort, the agreement between the predicted outcomes by scores and the real need for surgery and/or mortality was poor. There was a lack of clinical usefulness of the tested scores. We must continue to better identify parameters to help guide the management of these patients.

Congenital Seminal Vesicle Cyst and Ipsilateral Renal Agenesis (Zinner Syndrome): A Rare Association and Its Evolution from Early Childhood to Adolescence.

Zinner syndrome, the association of congenital seminal vesicle cyst and ipsilateral renal agenesis, is more often reported in adults or older adolescents. We present a case of a boy, followed up in our hospital since birth for right renal agenesis who at the age of 4 years presented a right paravesical cyst on ultrasound. The cyst was initially considered as an ureterocele. The diagnosis of Zinner syndrome was made later, at the age of 15 years by ultrasound and magnetic resonance imaging; at that moment the cyst had increased in size and had changed in aspect. This malformation should be considered in the differential diagnosis of a pelvic cyst in male patients with renal agenesis.

Increased survival despite failure of transplanted human hepatocyte implantation into liver parenchyma of nude mice with repeated lethal Jo2-induced liver deficiency.

We recently found that rat hepatocyte transplantation was efficient (liver repopulation: 2.4%) in a sublethal nude mouse model (less than 33% mortality) of repeated liver injury generated using Jo2, a mouse-specific anti-Fas antibody, at sublethal dose of 250 µg/kg for 3 weeks. Genomic analysis of the livers revealed cell cycle blockade and an antiproliferative status of circadian genes, suggesting a selective advantage. By contrast, in the present study, freshly isolated human hepatocyte transplantation performed in the same mouse model resulted in implantation of less than 6,000 cells per liver (about 0.006% repopulation) in all animals. Genomic analysis of nude mouse livers revealed a lack of P21 upregulation, while a signature of stimulation of liver regeneration was observed, including upregulation of early response genes and upregulation of circadian genes. When we translated this sublethal model to a lethal model (65% mortality) by increasing the Jo2 repeated doses to 375 µg/kg, human hepatocyte engraftment was still very low; however, animal mortality was corrected by transplantation (only 20% mortality). Genomic findings in livers from the mice of the lethal Jo2 transplanted group were similar to those of the sublethal Jo2 transplanted group, that is, no selective advantage genomic signature and signature of mouse liver regeneration. In conclusion, transplanted human hepatocytes acted as if they modified nude mouse liver responses to Jo2 by stimulating liver regeneration, leading to an increased survival rate.

Isolation of viable human hepatic progenitors from adult livers is possible even after 48 hours of cold ischemia.

Liver transplantation, utilized routinely for end-stage liver disease, has been constrained by the paucity of organ donors, and is being complemented by alternative strategies such as liver cell transplantation. One of the most promising forms of liver cell transplantation is hepatic stem cell therapies, as the number of human hepatic stem cells (hHpSCs) and other early hepatic progenitor cells (HPCs) are sufficient to provide treatment for multiple patients from a single liver source. In the present study, human adult livers were exposed to cold ischemia and then processed after <24 or 48 h. Cells positive for epithelial cell adhesion molecule (EpCAM), a marker on early lineage stage HPCs, were immunoselected and counted. Approximately 100,000 EpCAM(+) cells/gram of tissue was obtained from surgical resection of livers subjected to cold ischemia up to 24 h and comparable numbers, albeit somewhat lower, were obtained from those exposed to 48 h of cold ischemia. The yields are similar to those reported from livers with minimal exposure to ischemia. When cultured on plastic dishes and in Kubota's Medium, a serum-free medium designed for early lineage stage HPCs, colonies of rapidly expanding cells formed. They were confirmed to be probable hHpSCs by their ability to survive and expand on plastic and in Kubota's Medium for months, by co-expression of EpCAM and neural cell adhesion molecule, minimal if any albumin expression, with EpCAM found throughout the cells, and no expression of alpha-fetoprotein. The yields of viable EpCAM(+) cells were surprisingly large, and the numbers from a single donor liver are sufficient to treat approximately 50-100 patients given the numbers of EpCAM(+) cells currently used in hepatic stem cell therapies. Thus, cold ischemic livers for up to 48 h are a new source of cells that might be used for liver cell therapies.

The nude mouse as model for liver deficiency study and treatment and xenotransplantation.

We aimed at reviewing the various uses of Nude mouse for the development of liver deficiency models and evaluation of efficacy of hepatic cell xenotransplantation. The first part records the large range of liver deficiency models that can be developed in Nude mice: surgical partial hepatectomy, acute toxic liver deficiency, chronic cirrhosis, and transgenic liver injury. The second part tackles the outcome of rat hepatocyte as well as human cell transplantation, both mature hepatocyte and hepatic progenitor, into Nude mouse submitted to liver injury. Results are discussed and compared to other available immunodeficient mouse models. The issue of humanized liver creation is also addressed. Altogether, these results show that Nude mouse appears to be a suitable small animal model to expand our insight into liver cell engraftment and regeneration.

The surgical challenges of disorders of sex development (DSD).

Disorders of Sex Development (DSD) remain a fascinating challenge for the paediatricians, endocrinologists, biologists, psychiatrists, geneticists, radiologists, surgeons and for the whole society. This article aims at highlighting the current controversies and questions met with genital reconstruction in children born with abnormal genitalia. The main current techniques of masculinization and feminization are reviewed with their progress and their problems. The tools of decision used to assign a gender in some newborns with complex DSD are discussed showing that at the dawn of the third millenium, one still does not know why a boy is a boy, and a girl is a girl.

Desafíos quirúrgicos de las anomalías del desarrollo sexual / The surgical challenges of disorders of sex development (DSD)

Las Anomalías del Desarrollo Sexual (ADS) siguen siendo un desafío fascinante para los pediatras, endocrinos, biólogos, psiquiatras, genetistas, radiólogos, cirujanos y para toda la sociedad. Este artículo busca destacar las controversias y cuestiones actuales de la reconstrucción genital en niños nacidos con genitales anormales. Se revisan las principales técnicas actuales de masculinización y feminización junto con sus progresos y sus problemas. Se discuten las herramientas de decisión utilizadas para asignar un género en algunos recién nacidos con ADS complejas mostrando que en el amanecer del tercer milenio, uno todavía no conoce por qué un niño es un niño y una niña es una niña(AU)

Disorders of Sex Development (DSD) remain a fascinating challenge for the paediatricians, endocrinologists, biologists, psychiatrists, geneticists, radiologists, surgeons and for the whole society. This article aims at highlighting the current controversies and questions met with genital reconstruction in children born with abnormal genitalia. The main current techniques of masculinization and feminization are reviewed with their progress and their problems. The tools of decision used to assign a gender in some newborns with complex DSD are discussed showing that at the dawn of the third mille-nium, one still does not know why a boy is a boy, and a girl is a girl(AU)

Surgical options in disorders of sex development (dsd) with ambiguous genitalia.

Disorders of sexual development (DSD) include three main groups of patients: (1) The virilised 46,XX DSD essentially represented by congenital adrenal hyperplasia (CAH) ; (2) The undervirilised 46,XY DSD essentially represented by hypospadias; and (3) the chromosomic jigsaws essentially represented by mixed gonadal dysgenesis. It is in this last group that gender assignment remains a difficult decision involving various indicators, which can be split into four categories: (1) the inside sex (i.e., genes, hormones and target tissues); (2) the outside sex (i.e., anatomy of genitalia including size of the genital tubercle, mullerian cavity and potential adult height of the patient); (3) the functional sex (i.e., potential sexuality and fertility); and (4) and the social sex (i.e., the cultural medium in which the child is brought up). The challenge is to outline the future individual identity of the child in the postnatal period using these indicators. Current evolutions of surgical techniques of 'feminisation' and 'masculinisation' are described as well as their outcomes.

Follow-up and surgical management of Peutz-Jeghers syndrome in children.

BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominant syndrome with an increased risk of polyposis complications and intestinal and extraintestinal tumours. METHODS: During the last 15 years, we reviewed a series of 11 children with PJS, with special attention to evolution and follow-up. Diagnosis was based on at least 1 hamartomatous polyp associated with 2 of the 3 following criteria: family record of PJS, polyposis localised on small bowel, and mucocutaneous pigmentation. Diagnosis of PJS also could be raised by a single genetic analysis of STK11 gene. RESULTS: Median age at beginning of symptoms was 6 years old. Seven of the 11 children had genetic tests, which were positive for STK11 gene mutation. Among the 10 children presenting with gastrointestinal complications, 8 were operated on, 6 had at least 1 small bowel resection, and 4 had repeat surgery for recurrent intussusceptions. In case of complications leading to a surgical procedure, we performed intraoperative enteroscopy to remove all large polyps. To prevent any polyposis complications, we suggest a complete check-up of polyposis topography with some of the new endoscopic tools, either double-balloon endoscopy or videocapsule endoscopy. CONCLUSIONS: Children with PJS have a high risk of numerous laparotomies due to polyps' complications. Therefore, a screening of intestinal polyposis by videocapsule endoscopy is recommended, as well as a screening of the most frequent sites of cancers for the patient's whole life. During any abdominal procedure, they should have an intraoperative endoscopy, this management allowing an increased time interval between 2 laparotomies.

Retroperitoneal laparoscopic heminephrectomy in duplex kidney in infants and children: a 15-year experience.

BACKGROUND: Laparoscopic retroperitoneal partial nephrectomy in children remains a complex technique with limited diffusion among the paediatric surgical community. OBJECTIVE: To report our experience with laparoscopic heminephrectomy in duplex kidneys after a 15-yr practise of the technique in children and infants. DESIGN, SETTING, PARTICIPANTS: Forty-eight children with retroperitoneal laparoscopic partial nephrectomy (36 upper-pole nephrectomies [UPN] and 12 lower-pole nephrectomies [LPN]) were retrospectively included in this single-institution study. Median age at surgery was 8.6 mo (range 1.5-89), with a policy of early surgical intervention for UPN in cases involving a massively dilated upper tract. INTERVENTION: Retroperitoneal laparoscopic partial nephrectomy for duplex kidney in lateral position (n=31) and prone in the last 17 cases. MEASUREMENTS: We assessed intraoperative and postoperative morbidity. Follow-up (median 14 mo, range 6-125 mo) was based on clinical review and renal ultrasound. RESULTS AND LIMITATIONS: Median duration of surgery was 120 min (range 71-215). Ten procedures (21%) were converted into open surgery, mostly at the beginning of the experience (eight during the first 20 cases, as compared to one conversion in the last 20). Among four converted LPNs, three were converted for difficulties during parenchymal section. Six UPN were converted for difficulties of exposure, with a strong correlation with age: all six were infants, with a median age of 3.25 mo (range 1.5-8 mo). We observed one case (case 4) of functional loss of the remaining lower moiety. CONCLUSIONS: This study shows a high conversion rate during the learning curve for laparoscopic heminephrectomy. Retroperitoneoscopic UPN remains a challenging procedure in children, especially in small infants with very dilated collecting systems. The possibility of vascular damage to the remaining moiety warrants a very cautious dissection of the renal pedicle and should lead to conversion when clear visualization of vascular anatomy is not ascertained.

Severe bladder dysfunction revealed prenatally or during infancy.

OBJECTIVE: Although thought to be an acquired condition, non-neurogenic neurogenic bladder may sometimes be a congenital dysfunction, revealed before toilet training. We report our experience with the condition diagnosed prenatally or during early infancy. PATIENTS AND METHOD: We retrospectively reviewed cases of severe bladder dysfunction with upper-tract impairment, without neurological or obstructive pathology, in children diagnosed before toilet training: five with prenatal diagnosis of severe hydro-ureteronephrosis (group 1) and six with signs of bladder dysfunction during infancy (group 2). RESULTS: Follow up of group 1 showed decompensation toward severe bladder dysfunction, diagnosed after either toilet training or ureteral reimplantation (n=3). After a median follow up of 14 years (0.5-20), four were on clean intermittent catheterization with bladder augmentation and one required sphincteric re-education with good result. Two of the five had chronic renal failure. In group 2, six children (two females) presented at median age of 20 months (2-30) with indirect signs of bladder dysfunction, including vesicoureteral reflux (n=4) and/or hydro-ureteronephrosis (n=4). After a median follow up of 11 years (5-20), three were on clean intermittent catheterization (two Mitrofanoff channels), and three underwent bladder augmentation. Three children had chronic renal failure of whom one underwent renal transplant. CONCLUSION: These cases of severe bladder dysfunction were initially misdiagnosed. In both groups, follow up revealed severe dilatation of the upper tract and secondary renal impairment. Antenatal diagnosis of bilateral pyeloureteral dilatation may be the first sign of early bladder dysfunction.

Improved xenogenic hepatocyte implantation into nude mouse liver parenchyma with acute liver failure when followed by repeated anti-Fas antibody (Jo2) treatment.

Hepatocyte transplantation is a promising therapy for acute liver failure in humans. Recently, we succeeded in inducing various acute and chronic liver failures in nude mice. Engraftment of transplanted xenogeneic rat hepatocytes, visualized in the host liver by anti-MHC class I immunohistochemistry, revealed that liver repopulation was limited, and equivalent in nude mice with and without acute liver failure. In the present study, acute liver failure was induced in nude mice by a single injection of sublethal anti-Fas antibody Jo2, followed 24 h later by rat hepatocyte transplantation and than by a weekly repeated injection of Jo2. Rat hepatocyte engraftment into the recipient liver parenchyma 3 weeks following hepatocyte transplantation was about sevenfold increased when nude mice were subsequently subjected to weekly repeated Jo2 injection. Genomic analysis of these mice showed an overall transcriptome profile of upregulation of cellular cycle blocking transcripts, activation of liver injury inducing IFN-gamma/STAT1 pathway, and circadian transcript signature of antiproliferative cell status compared to mice submitted to hepatocyte transplantation only. The findings of the present study suggest that the induction of cell proliferation blockade in recipient livers could promote sufficient engraftment of transplanted hepatocytes to allow transient or definitive treatment of liver failure in humans.