Charge: an association or a syndrome?

Introduction: CHARGE ‘‘association’’ is a rare clinical entity with multiple congenital anomalies that necessitates a multidisciplinary approach. Its diagnosis is important not only for the pediatric surgery practice but also for the otorhinolaryngology practice as it complicates with a number of major surgical anomalies. The aim of this paper is to present the latest evidences on the genetic basis of the disease. Materials and methods: In order to evaluate, a computed literature review was undertaken using PubMed and OMIM databases. Results: Heterozygous mutations within the chromodomain helicase DNA binding protein 7 (CHD7) were reported in every two of three CHARGE patients. CHD protein family is located on chromosome 8q11.2 and is known to regulate chromatin remodeling which plays an essential role in the developmental gene expression. That is why the haploinsufficiency of CHD7 gene due to heterozygous mutations results in not only the postnatal but also the prenatal developmental regulation errors. The wide expression of this gene in the prenatal period overlaps with the broad spectrum of the phenotypic symptoms of the disease. Conclusion: CHD7 gene haploinsufficiency is expected to be the underlying basis of CHARGE. Even though the genetic basis is unsolved in one-third of the patients, the current evidence supports the term ‘‘syndrome’’ rather than an ‘‘association’’ should be more appropriate for CHARGE

Successful laparoscopic removal of mesenteric and omental cysts in toddlers: 3 cases with a literature review

Mesenteric and omental cysts are rare benign intraabdominal anomalies with uncertain etiologies. Surgical removal is the preferred treatment owing to complications related to cyst enlargement. A 1-year-old boy with an intrauterine diagnosis of a cystic mass adjacent to his stomach and liver, a 3-year-old girl, and a 3-year-old boywith an incidental diagnosis of intraabdominal cystswere scheduled for laparoscopic surgery. Themass of the 1-year-old boywas amultiloculated cyst originating from the lesser omentum, the incidental mass in the girlwas amultiseptated cyst located in the jejunoilealmesentery, and the incidentalmass of the 3- year-old boy was a uniloculated cyst originating from the ileal mesentery. All the cysts were excised either laparoscopically or in a laparoscopy-assisted manner. The laparoscopic or laparoscopy-assisted excision of the mesenteric and omental cysts seems to be a feasible, safe, and cost-effective surgical procedure with shorter operative times, even in toddlers

Torsion of the ovary in an incarcerated inguinal hernia

A 2.5-month-old girl with a left-sided, painful inguinal swelling for the last 2 days was brought to the emergency department. After physical examination and radiological evaluation, the diagnosis of incarcerated inguinal hernia of the ovary was made. Because of the long-standing history, she was taken to the operation room without an attempt for manual reduction. Perioperatively, the torsion of the ovary with distal fallopian tube within the indirect hernia sac was seen. As untwisting of the ovary has resulted in no change in the color, oophorectomy before hernia repair was performed. The majority of the painful inguinal swellings in the infancy are related to incarcerated hernia. The treatment option varies from manual reduction to surgical intervention, depending on the duration from beginning of swelling to the time the exact diagnosis was made. Even though the presence of short-term history and the lack of peritoneal irritation findings are indications for a manual reduction, the suspicion of an ovarian torsion should be raised for ovaries within the incarcerated inguinal hernia, and ovarian viability should be considered before an attempt of manual reduction

Bloody nipple discharge in 2 infants with interesting cytologic findings of extramedullary hematopoiesis and hemophagocytosis

Bloody nipple discharge in the infantile period is an uncommon finding. Despite its stressful course to the parents, it is generally a benign condition with a spontaneous resolution. The approach to bloody nipple discharge in the infantile period is well documented in the literature even though the number of these cases is limited. We report 2 infants with unilateral bloody nipple discharge. Their physical examination, laboratory, and ultrasound findings were normal but the cytologic examinations of the discharge revealed signs of extramedullary hematopoiesis and hemophagocytosis. These extraordinary findings made us brainstorm on the probable ongoing processes in the infantile breast tissue

Successful treatment of a case with cervical lymphatic malformation: Repeated bleomycin sclerotherapy

Lymphatic malformations (LM) are benign congenital malformations of the lymphatic system. They are frequently seen in the neck and sometimes can be life-threatening due to compression to the airway. Treatment modalities are widespread including surgical excision, radiotherapy, laser therapy, and application of intralesional sclerosing agents. We report the successful treatment of cervical LM in a 3-year-old boy who presented with a sudden onset of a large cystic mass in the posterior cervical triangle and was treated with repeated injections of intralesional bleomycin

A rare cause of acute abdominal pain in adolescence: hydrosalpinx leading to isolated torsion of fallopian tube

Torsion of the fallopian tube accompanying hydrosalpinx is a rare occurrence in the pediatric population. This report describes a 13 year old sexually inactive girl with isolated tubal torsion due to hydrosalpinx. The girl had lower left abdominal pain for two days. The physical examination revealed left lower quadrant tenderness with a firm round anterior mass on rectal examination. Abdominal ultrasound showed left tubal enlargement with free pelvic peritoneal fluid. Magnetic Resonance Imaging (MRI) showed engorgement and dilatation of the left fallopian tube without contrast enhancement suspicious of tubal torsion. At operation, torsion of the left tube on its longitudinal axis was observed, and a salpingectomy was performed. Although rare, the diagnosis of torsion of the fallopian tube should be considered when evaluating acute abdominal pain. The earlier tubal torsion is diagnosed, the greater the likelihood of salvaging the fallopian tube. (C) 2012 Elsevier Inc. All rights reserved

The morphological evaluation of ipsilateral and contralateral vasa deferentia in a rat model of unilateral spermatic cord torsion

Aim Spermatic cord torsion is a surgical emergency that requires early intervention to protect the effected testicle. The literature review about this ischemic reperfusion (I/R) injury reveals not only ipsilateral, but also contralateral testicular and epididymal injuries in a broad fashion. However, there is no data about vas deferens injury related with this surgical emergency. The aim of the study is to evaluate the morphological changes of the vas deferens due to testicular I/R injury. Materials and methods Eighteen Wistar-Albino rats were allocated to three groups. Bilateral vasa deferentia of control group (Gr C, n = 6) were harvested without any surgical intervention. The torsion group was subjected to 2 h torsion and 2 h detorsion of the left testicle (Gr T, n = 6) and the third group underwent sham operations (Gr S, n = 6). Bilateral vasa deferentia of Gr T and S were harvested after surgery. The either side of the vas deferens was divided into three equal segments and these regions (adjacent to urinary bladder, medial and adjacent to testicle) were evaluated histopathologically. Results The electron microscopic evaluation of bilateral vasa deferentia of Gr T revealed different degrees of degeneration on either side. The region adjacent to testicle of the contralateral vas deferens was the most effected segment when compared with the other segments. Conclusion In the light of these findings, it can be said that testicular I/R injury effects not only testis and epididymis, but also the adjacent vas deferens. This effect seems to be bilateral, like the testis and epididymis injury. Moreover, it mostly seems to depend on the apoptotic processes

Effects of different pulmonary surfactants in the prevention of postoperative intraabdominal adhesion formation

Background: After abdominal surgery, the formation of postoperative adhesion is a serious problem. The aim of the study is to evaluate the efficacy of 2 different pulmonary surfactants, poractant and beractant, on adhesion prevention in an experimental model. Materials and Methods: An experimental intraabdominal adhesion model was created in 18 adult female rats by cecal abrasion. The rats were randomly assigned to 3 groups. Group I received no further treatment, whereas groups II and III received intraperitoneal poractant and beractant, respectively, before closing the incision. On the 15th postoperative day, all rats underwent relaparotomy, intraabdominal adhesions were scored macroscopically according to Canbaz scoring system, and the cecum in each animal was evaluated microscopically. Results: The median adhesion scores of group II and III rats were significantly lower when compared with group I (P = .02). Group III had a lower median adhesion score than did group II, but this did not reach significance (P N .05). Conclusion: These observations suggest that intraperitoneal instillation of both pulmonary surfactants is associated with lower adhesion scores, higher adhesion-free cases, and improved histologic findings

Application of vascular endothelial growth factor at different phases of intestinal ischemia/reperfusion: what are its effects on oxidative stress, inflammation and telomerase activity?

Background. Intestinal ischemic reperfusion injury (IRI) represents a great challenge in clinical practice, with high morbidity and mortality. Vascular endothelial growth factor (VEGF), asasignal protein, contributes tovasculogenesis and angiogenesis.Objectives. To evaluate the local effectiveness of VEGF following intestinal IRI and its relation with application time.Material and methods. Thirty Wistar albino rats were allocated to5 groups and underwent laparotomy. Thesuperior mesenteric arteries (SMA) were dissected in4 groups, while thecontrol group (GrC) underwent aresection ofsmall and large intestines. The VEGF group (Gr V) received VEGF following SMA dissection, with no further intervention, and theremaining 3 groups were subjected toischemia for 90min through occlusion ofSMA and reperfusion for 4h. Ischemic reperfusion group (Gr I/R) received no additional medication, while theremaining 2 groups received VEGF just before ischemia (Gr V+I/R) and during reperfusion (Gr I/R+V).Results. Both applications of VEGF caused decreases inplasma levels of interleukin6 (IL-6), tumor necrosis factor ? (TNF-?), intestinal malondialdehyde (MDA), oxidized glutathione, protein carbonyl levels, and increases inintestinal total glutathione and superoxide dismutase (SOD) levels. Telomerase activity, which disappeared for Gr I/R, was found to be elevated following both treatment groups. Similarly, the histopathological scores were found better for both treatment groups, but Gr V-I/R represented best outcomes.Conclusions. The findings of our study revealed that VEGF, applied either before ischemia or during reperfusion, iseffective onlocal damage following intestinal IRI. Byinterpreting thebiochemical analysis and histopathological findings, we conclude either treatment option to be considered according to the reason of intestinal IRI

Rectal duplications accompanying rectovestibular fistula: Report of two cases

Rectal duplication (RD) cysts are rare congenital anomalies that can be diagnosed with the presence of another opening in the perineum. They seldom accompany anorectal malformations (ARM). Two cases of RD accompanying ARM at opposite ends of the phenotypic spectrum, are described. A 3-month-old baby and a 2-year-old girl with ARM were scheduled for posterior sagittal anorectoplasty. The infant had an orifice at the anal dimple and the other had an orifice at the vestibulum posterior to the rectovestibular fistula. The infant presented with no other anomalies whereas the older one presented with an unusual coexistence of caudal duplication and caudal regression syndromes. Perioperatively both orifices were found to be related to retrorectal cysts, and were excised. Clinicians should always be alert when dealing with complex malformations. Because these malformations have variable anatomical and clinical presentations, they can represent a diagnostic and therapeutic challenge