A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.

Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge. Here, we report a newborn diagnosed with TBS with APVS and tetralogy of Fallot (TOF) who was found to carry the most common pathogenic SALL1 gene mutation c.826C > T (p.R276X), with its surgical repair and postoperative follow-up. To our knowledge, this is the first genotyped case of TBS from Turkey to date. TBS should be suspected in the presence of ear, anal, and thumb malformations in a neonate. If a patient with TBS and TOF-APVS needs preoperative ventilation within the first months of life, this implies prolonged postoperative intubation and increased risk of mortality.

Hyponatremic-hypertensive Syndrome in a 19-month-old Boy with Renovascular Hypertension.

Hyponatremic-hypertensive syndrome (HHS) is an uncommon disorder rarely seen in children. Herein, we report a 19-month-old boy with HHS. He had severe hypertension, polyuria, polydipsia, vomiting, and seizure at presentation. Laboratory findings revealed hyponatremia, hypokalemia, metabolic alkalosis, proteinuria, hypercalciuria, high levels of renin and aldosterone, and renal artery stenosis. All symptoms resolved after nephrectomy. Clinicians should be aware of this syndrome because prompt recognition can be lifesaving.

Vertical plication: A penile curvature correction technique that reduces the need for urethral plate transection in penoscrotal hypospadias.

INTRODUCTION: Penile curvature (PC) is a frequent component associated with hypospadias. Medial corporal rotation by interrupted suturing without incising the corporal bodies is well described in patients with epispadias and we think that it is an alternative technique for the management of patients with ventral PC, with or without hypospadias. OBJECTIVE: We describe a PC correction technique which reduces the need for urethral plate transection in penoscrotal hypospadias. STUDY DESIGN: The main steps of "vertical plication" technique are following: The Buck's fascia at the maximum point of curvature was incised longitudinally at 12-o'clock position and then dissected from tunica albuginea from medial to lateral on each side. Minimal and precise dissection just enough to allow plication is essential to avoid injury to the neurovascular bundle. No incisions were made through the tunica albuginea. Corporal rotation was performed by approximating with polyester sutures which were placed 5 mm apart at and around the point of maximum curvature. Three to 5 sutures were enough for full straightening of PC in our cases. Follow-up range was 1.5-4.5 years (mean: 3 years). RESULTS: 17 patients underwent this technique. 16 of them had a penoscrotal hypospadias and one patient had congenital PC without hypospadias. Full PC correction was achieved in 15 patients and residual curvature below 10° was seen in two patients. We were able to perform single-stage repair in 13 (81,25%) of our penoscrotal hypospadias cases without transection of urethral plate. DISCUSSION: High recurrence rates were reported in dorsal plication technique when compared to ventral corporal lengthening in patients with PC > 30°. In the presence of high grade PC, a penile elongation technique is the preferred option for many authors. However, it requires incision of tunica albuginea. Although the variations of medial corporal rotation to correct ventral PC has been described in the past, they did not gain popularity. CONCLUSION: This technique allows the surgeon to proceed with single stage repair in patients with proximal hypospadias associated with high grade PC. Narrowing is the only disadvantages of our technique, which can easily be resolved by de-epithelialized flap coverage harvested from foreskin. No parents subjectively reported nor we detected narrowing, recurrence or shortening during follow-up.

Circumcision with plastic Alisclamp technique in 4733 boys: our experiences to reduce complications

Background/aim: We aim to report the outcomes of circumcisions performed with Alisclamp and our experiences to reduce the complications. Material and methods: Complications among circumcised males with Alisclamp between 2015 and 2018 were retrospectively analyzed. Patients were divided into two groups: Group 1 (n = 1429); patients circumcised in 2015­2016 and Group 2 (n = 3304); patients circumcised in 2017­2018. The different technical approaches in Group 2 are as follows: 1) Prevention of bleeding: In Group 2, we didn't pull the ventral prepuce to reduce the risk of frenulum injury and the foreskin was excised approximately 1­2 mm above the base. 2) Prevention of secondary phimosis: In Group 2, regular manual pressure had been applied to mons pubis and we postponed some of the overweight children's circumcision. 3) Prevention of excessive foreskin: The clamp was placed carefully to prevent the glans from moving back and forth. Results: Secondary phimosis was significantly lower in Group 2 (p = 0.003). Total bleeding and bleeding requiring suturing were significantly lower in Group 2 (p = 0.001 and p = 0.026, respectively). Conclusion: Technique-specific complications of Alisclamp can reduce with technique-specific modifications.

The effect of hypothermia in a rat testicular torsion/detorsion model.

BACKGROUND: Testicular torsion is an emergent condition. The protective effect of medical hypothermia in ischemia/reperfusion injury is well defined. OBJECTIVES: To evaluate the late results of hypothermia through a rat testicular torsion/detorsion model compatible with human testicular torsion. STUDY DESIGN: Rats were divided into 5 groups (n = 7): (1)Sham (S) group, (2)T/D group: right testis was torted for 1-h, (3)T/D + H30 group: hypothermia at 4 °C was applied for 30 min before detorsion, (4)T/D + H90 group: hypothermia at 4 °C was applied for a total of 90 min (30 min before and 1-h after detorsion), (5)H group: hypothermia at 4 °C was applied to right testis for 90 min. Testicular diameters at preoperative period and 8th postoperative week were measured. Biochemically, MPO, NO, 3-NT and 4-HNE in testicular tissue and serum levels of NO, PGF 2α, 3-NT, 8-OHdG and 4-HNE were studied. Histopathologic examination and TUNEL assay were also performed. RESULTS: Biochemical and macroscopical parameters of both T/D + H30 and T/D + H90 groups were statistically different from group T/D with respect to protective effects of hypothermia. Johnsen's score was also statistically different in group T/D + H90. DISCUSSION: Hypothermia can easily be applied with ice bags both in perioperative period. This is the first study evaluating the effect of hypothermia applied postoperatively. Tissue level of protein oxidation marker (3-NT) and serum levels of DNA damage (8-OHdG), lipid peroxidation (4-HNE), protein oxidation (3-NT) and oxidative stress (PGF-2α) markers were measured for the first time. CONCLUSIONS: Hypothermia has been shown to be macroscopically, biochemically and histopathologically beneficial in the long-term experimental testicular torsion model.

Cystoscopy and mucosectomy: Essentials in the management of persistent müllerian duct syndrome with transverse testicular ectopia. / Cistoscopia y Mucosectomia: Manejo del síndrome de persistencia de los conductos mullerianos con ectopia testicular transversa.

OBJECTIVES: The concurrence of Persistent Müllerian Duct Syndrome and transverse testicular ectopia is rare. The risk of damage to the vas deferens and the deferential blood supply hinders some surgeons from complete excision of potentially malignant Müllerian duct remnants. METHODS: We present a unique surgical technique of Persistent Müllerian Duct Syndrome in a patient with right inguinal hernia accompanying transverse testicular ectopia. RESULTS: During exploration, both testes were detected in the right inguinal canal. When the hernia sac was opened, a primitive uterus and fallopian tubes without fimbria were identified confirming Persistent Müllerian Duct Syndrome. A 4 Fr catheter was placed into the os of the Müllerian duct remnants via the verumontanumorifice, and then a urethral catheter was placed. The full-thickness excision of proximal Müllerian duct remnant swere performed. The distal part of Müllerian duct remnants was layed open and only mucosa was excised for preserving vas deferens. Resection was completed just above its junction with the urethra with the aid of 4Fr catheter marked at centimeter intervals and the cuffwas oversewn. High ligation for right inguinal hernia and bilateral orchidopexy were performed. CONCLUSIONS: Removal of Müllerian duct remnantsis advised in order to reduce the jeopardy of malignancy, urinary tract infections, stones and hematuria. On the other hand, excision down to urethra which can compromise the integrity and vascularity of the vas deferens is diffucult, even in experienced surgical hands. Complete excision of these structures by mucosectomy of the distal part of remnant which lay closed to vas deferens is a safe and effective method. Cystoscopy assistance and placement of a catheter into MDRs were essential for the complete excision of this mucosa. To the best of our knowledge, cystoscopy assisted mucosectomy in Persistent Müllerian Duct Syndrome has not been reported previously.

OBJETIVOS: La presencia de síndromede persistencia de los conductos mullerianos y ectopia testicular transversa es raro. El riesgo de dañar el conducto deferente y la vascularización diversa hace que muchos cirujanos no realicen una extirpación completa de los conductos mullerianos remanentes con riesgo de malignización.MÉTODOS: Presentamos una técnica quirúrgica única para la resección completa de los conductos mullerianos remanentes en pacientes con hernia inguinal derecha acompañada de ectopia testicular transversa. RESULTADOS: Durante la exploración física se detectaron ambos testículos en el canal inguinal derecho. Cuando abrimos el saco herniario, se observó un útero primitivo con trompas de falopio sin fimbrias confirmando el síndrome de persistencia de los conductos mullerianos. Se colocó un catéter 4 Fr en la punta del remanente mulleriano a través del orificio del verumontanumy a posteriori se colocó una sonda uretral. CONCLUSIONES: La extirpación del remanente del conducto mulleriano esta indicada para evitar la malignización, infecciones urinarias, litiasis y hematuria. Por otro lado, la extirpación hasta la uretra puede comprometer la vascularización y integridad del conducto deferente, siendo dificultosa hasta en manos expertas. La extirpación completa de las estructuras con mucosectomia de la parte distal del remanente es segura y eficaz. La ayuda de la cistoscopia y colocación de un catéter en el remanente son muy importantes para la resección completa. Esta es la primera descripción de mucosectomia asistida por cistoscopia en un síndrome de persistencia del remanente mulleriano hasta la fecha.

The role of flexible bronchoscopy accomplished through a laryngeal mask airway in the treatment of tracheobronchial foreign bodies in children.

INTRODUCTION: We here present our experience with children who underwent flexible bronchoscopy for removal of inhaled tracheobronchial foreign bodies under general anesthesia via a laryngeal mask airway (LMA). MATERIALS AND METHODS: A total of 24 (16 male and 8 female, mean age: 30.75 ±â€¯29.68 months) patients who underwent flexible bronchoscopy under general anesthesia using a LMA for suspicion of tracheobronchial foreign bodies between July 2016 and April 2018 were retrospectively reviewed. RESULTS: The mean duration of admission to hospital was 162.56 ±â€¯309.56 h. Sixteen (66.7%) patients were found to have tracheobronchial foreign bodies. All procedures were successfully accomplished through a LMA by using basket forceps, a Fogarty catheter and a suction without any need for rigid bronchoscopy. 11 (68.7%) of tracheobronchial foreign body locations were right bronchial, 3 (18.8%) were left bronchial and 2 (12.5%) were tracheal. The types of extracted tracheobronchial foreign bodies were organic in 14 (87.5%) and non-organic in 2 (12.5%). There were no complications except laryngeal edema noted in 2 (8.3%) patients, relieved within 48 h. The mean time of postoperative hospitalisation was 2.42 ±â€¯0.97 days. CONCLUSION: Flexible bronchoscopy accomplished through a LMA is a safe, easy and effective technique, not only as a diagnostic procedure, but also as the initial therapeutic modality for retrieving tracheobronchial foreign bodies in children with high success and low complication rates. With further reports aforementioned, we hope that the flexible bronchoscopy will become a standard method in children.

Posterior sagittal anorectoplasty in vestibular fistula: with or without colostomy.

PURPOSE: The aim of this study is to compare the results and complications of one- and three-stage repairs in females with vestibular fistula (VF) and make contribution to the discussion of whether the disadvantages outweigh the protective effect of a colostomy from wound infection and wound dehiscence following posterior sagittal anorectoplasty (PSARP). METHODS: Patients with a diagnosis of VF who underwent PSARP between October 2009 and November 2015 were retrospectively reviewed. The patients were divided into two groups: Group 1-patients treated by one-stage procedure (n = 30); Group 2-patients treated by three-stage procedure (n = 16). RESULTS: There were no statistically significant differences between the groups with respect to wound infection, recurrence of fistula and rectal mucosal prolapse. Minor wound dehiscence occurred slightly more common in Group 1, even if p value is not significant. No wound dehiscence has been observed since we switched to the protocol of keeping the child nil per oral for 5 postoperative days and loperamide (0.1 mg/kg) administration for 7 postoperative days. The mean time before resuming oral intake was 2.87 ± 1.7 and 1.19 ± 0.4 days in Group 1 and Group 2, respectively (p = 0.001). None developed major wound disruption or anal stenosis in either group. There were no statistical differences between the groups in terms of voluntary bowel movements, soiling and constipation. CONCLUSIONS: PSARP performed without a protective colostomy in patients with VF has low morbidity, good continence rates and obvious advantages for both the patients and their parents.

The Place of Calprotectin, Lactoferrin, and High-Mobility Group Box 1 Protein on Diagnosis of Acute Appendicitis with Children.

The purpose of this study is to investigate the role of serum calprotectin (CP), lactoferrin (LF), and high-mobility group protein B1 (HMGB-1) levels and fecal CP and LF levels in differential diagnosis of acute uncomplicated appendicitis from other causes of abdominal pain and further from complicated appendicitis. Totally, 120 children were included grouped into 4 as: healthy controls, patients with right lower quadrant pain with other than surgical causes, patients with uncomplicated appendicitis, and patients with complicated appendicitis. Serum CP, LF, HMGB-1, C-reactive protein (CRP) levels, and white blood cell (WBC) count were studied as well as the fecal CP and LF levels. There was a statistically significant difference between control group and both uncomplicated and complicated acute appendicitis groups, regarding all parameters. In diagnosis of complicated acute appendicitis, area under curve (AUC) for fecal LF, serum CP, and serum HMGB-1 were determined as 1.00 and the cutoff level was determined as 25 µg/g feces, 670 ng/mL, and 30 ng/mL, respectively. In differential diagnosis of uncomplicated and complicated AA, the most accurate parameter was fecal LF with an AUC of 0.977. At a 60 µg/g cutoff value for this variable, sensitivity, specificity, and accuracy were 96.7, 93.3, and 95.0 %, respectively. In conclusion, HMGB-1, calprotectin, and lactoferrin constitute novel markers in diagnosis of AA. Moreover, their levels may be helpful for the clinicians to judge about the severity of the condition. Larger studies are warranted to determine the diagnostic potential of HMGB-1, LF, and CP in AA diagnosis.

Delayed diagnosis: An important prognostic factor for oesophageal atresia in developing countries.

AIM: The aim of this study is to analyse the effect of delayed diagnosis on mortality rates, and evaluate the role of delayed diagnosis as a new prognostic factor in patients with oesophageal atresia (OA), especially in developing countries. METHODS: The records of 80 consecutive patients with OA (2008-2013) were reviewed. Patients were divided into two groups according to the time of diagnosis. As we demonstrated the effect of delayed diagnosis on mortality, we decided to develop a new classification that will be utilised to predict the prognosis of OA. The discrimination ability of the new prognostic classification was compared with those of the Waterston, Montreal and Spitz classifications using the area under the curve. RESULTS: The parameters of the new prognostic classification were birth weight less than 2000 g, the presence of major cardiac/life-threatening anomalies and delay in diagnosis. Class I consisted of patients with none or one of these parameters. Class II consisted of patients with two or three of these parameters. The area under the curve of the new classification was better than those of the other classifications in determining the prognosis of patients with OA. CONCLUSIONS: Delayed diagnosis of OA significantly led to morbidity and mortality. Although delayed diagnosis is not a characteristic of newborn or a marker of severity for OA and is a health care system issue in developing countries, we here point out that it is a prognostic factor in its own right. Our new classification has a superior discriminatory ability compared to the above-mentioned classifications.

A giant choledochal cyst in infancy: a case report.

Choledochal cyst is a dilation that encloses the intrahepatic or both extra- and intrahepatic portions of the biliary ducts. Postnatally, ultrasonography is the initial diagnostic modality of choice, allowing for precise measurements of intra- or extrahepatic duct dilatation and identification of stones and sludge. Symptoms depend on the age at presentation. Common bile duct malformations should be considered as a differential diagnosis of a cystic mass regardless of the cyst's size or patient's age, especially in children presenting with abdominal pain, jaundice, and palpable mass. To the best of our knowledge, we report the largest choledochal cyst in infancy.

Congenital anterior urethrocutaneous fistula: 3 new cases and review of literature.

OBJECTIVE: Congenital anterior urethrocutaneous fistula, is a rare anomaly characterised by fistulisation of penile urethra to skin and presence of a concomitant normal or hypospadiac external urethral meatus. It may be seen as an isolated anomaly or may accompany genitourinary or anorectal malformations. We aim to present 3 new cases and define the common properties of patients stated in literature. METHOD: Information of 3 patients aged 2, 3 and 6 with this diagnosis were reviewed retrospectively and features of 51 patients in 25 articles with literature search. RESULTS: From the patients we operated, 2 had midpenile and 1 had subcoronal fistula. Urethral meatus was at tip of glans in all with 1 stenotic meatus. Two-layered primary repair was performed in 3 patients and deep ventral incision on urethral plate with meatotomy were added to fistula repair in one with stenotic meatus. Fistula recurred in this patient but resolved spontaneously after dilatations. In literature, most common fistula site was subcoronal in 27 (52.9%). Hypospadias was in 11.8% and associated genitourinary anomaly was detected in 21.5% of patients. Fistula recurrence ratio was 7.8% using different surgical techniques. CONCLUSION: Congenital anterior urethrocutaneous fistula is frequently located in subcoronal level and usually a normal urethra distal to it. Physical examination is important to detect additional anomalies. Success rates are high with primary repair techniques.

The comparison of dextranomer/hyaluronic acid and polyacrylate-polyalcohol copolymers in endoscopic treatment of vesicoureteral reflux.

BACKGROUND: Dextranomer/hyaluronic acid (Dx/Ha;Dexell®) and polyacrylate-polyalcohol copolymer (PPC;Vantris®) are the popular tissue-augmenting substances using for the endoscopic injections of vesicoureteral reflux (VUR). The aim of the study is to evaluate and compare Dx/Ha and PPC in terms of effectiveness, injection techniques and complications with special emphasis on vesicoureteral junction obstruction (VUJO). METHODS: A total of 95 patients who underwent endoscopic VUR treatment between 2009 and 2015 were retrospectively reviewed. The patients were divided into two groups: group 1: Patients underwent endoscopic treatment with PPC (n=50 patients, 70 renal refluxing units) group 2: Patients underwent endoscopic treatment with Dx/Ha (n=45 patients, 74 renal refluxing units). RESULTS: The overall resolution rates based on the number of renal refluxing units studied was 88.6% and 70.3% in group 1 and group 2, respectively. Resolution rates were significantly better in group 1 compared to group 2. VUJO requiring ureteral reimplantation or stent insertion developed in 7 patients in group 1. No VUJO was observed in group 2. VUJO in group 1 was markedly higher than that in group 2. CONCLUSIONS: Endoscopic treatment of VUR with PPC promises better resolution rates but higher VUJO rates compared to Dx/Ha.

Multiple Stones in a Single-System Ureterocele in a Child.

Presence of multiple calculi in ureterocele is rare in children. A 6-year-old boy presented with hematuria in whom on x-ray and ultrasound multiple calculi were noted in the urinary bladder. At surgery a ureterocele containing multiple calculi was found. The postoperative (99m) Tc-Dimercaptosuccinic acid scan (DMSA) reported normal renal function.

Rare causes of gastrointestinal hemorrhage in infancy.

Gastrointestinal hemorrhage in children is a critical condition that demands quick and effective management. The differential diagnosis of gastrointestinal hemorrhage is wide. Heterotopic pancreas is a rare congenital anomaly and usually discovered incidentally. It is generally asymptomatic, but symptoms may occur when complicated by inflammation, bleeding, obstruction or malign transformation. Heterotopic pancreas may present throughout the gastrointestinal tract, but it is most commonly found in the stomach, duodenum and proximal jejunum. Juvenile polyps are common during childhood and present most often with painless rectal hemorrhage. They remain the most common colonic polyps in children. Colonoscopic polypectomy is the most effective procedure in the treatment of juvenile polyps. In this study, we describe rare causes of gastrointestinal system hemorrhage in infancy and discuss some diagnostic and therapeutic approaches.

Modified Tubularized Incised Plate Urethroplasty Repair: Frenuloplasty and Long-Term Results in 155 Patients.

To describe a modification of tubularized incised plate (TIP) urethroplasty which we refer to as "frenuloplasty". We retrospectively reviewed 155 children who underwent TIP urethroplasty between June 2008 and August 2011 in our institution. In our technique, the circumcision incision went on through the mucocutaneous junction obliquely in order to form frenular wings instead of linear circumscribing incision joined the urethral plate vertically. The little triangle-shaped skin flaps between the oblique mucocutaneous incisions and urethral plate incisions were excised. The glans wings and frenular wings were re-approximated without tension after uretroplasty. The mean age of the patients was 4.63 ± 3.82 years. The mean follow-up was 15.94 ± 5.46 months. Location of hypospadias was distal penile in 126 patients (81.3 %) and mid-shaft in 29 (18.7 %). The following complications occurred in 21 patients (13.5 %): urethrocutaneous fistula formation in 7 (4.5 %), meatal stenosis in 14 (9 %) and no dehiscence. We suppose that there is no incompletely formed prepuce but a ventral fusion defect in the midline. Frenuloplasty reduces the necessity of ventral preputial flaps and provides satisfactory cosmetic outcomes with the appearence of normal circumcised penis.

Unusual Histopathological Findings in Childhood Appendectomy Specimens.

The purpose of this study was to find the unusual findings in the childhood appendectomy specimens and their incidence. The clinicopathological data of 1,306 patients whose ages ranged from 3 to 16 were retrospectively collected. Histopathological findings in appendectomy specimens taken from patients who had a prediagnosis of appendicitis were obtained. Incidental appendectomies were not included in the research. Unusual findings were reevaluated in the histopathological assessment of appendectomy specimens. The number of patients whose pathological findings are considered unusual is 25 (1.91 %). Nine of the patients were girls and 16 of them were boys. Their ages ranged from 6 to 15. Pathological results revealed that there were 16 (1.22 %) cases of parasitosis, 3 (0.23 %) cases of granulomatosis, 3 (0.23 %) cases of eosinophilic appendicitis, 2 (0.15 %) cases of carcinoid tumors, and 1 (0.08 %) case of appendiceal non-Hodgkin's lymphoma. All patients underwent a standard appendectomy. Uncommon histopathological findings in childhood appendectomy specimens are more common than those in adulthood. This kind of certain unexpected lesions of the appendix may require advanced diagnostics, careful clinical care, follow-up for years, and a multidisciplinary approach. Therefore, histopathological examinations of appendectomy specimens must be performed routinely.