Sacral neuromodulation for constipation and fecal incontinence in children and adolescents - study protocol of a prospective, randomized trial on the application of invasive vs. non-invasive technique.

BACKGROUND: A therapeutic effect of sacral neuromodulation (SNM) on fecal incontinence (FI) and quality of life has been proven in adults. SNM is, however, rarely used in pediatric cases. The aim of the study is to investigate effects of SNM in pediatric constipation in a prospective parallel-group trial. METHODS: A monocentric, randomized, unblinded, parallel-group trial is conducted. SNM is conducted in the invasive variant and in an innovative, external approach with adhesive electrodes (enteral neuromodulation, ENM). We include patients with constipation according to the ROME IV criteria and refractory to conventional options. Patients with functional constipation and Hirschsprung's disease are able to participate. Participants are allocated in a 1:1 ratio to either SNM or ENM group. Clinical data and quality of life is evaluated in regular check-ups. Neuromodulation is applied continuously for 3 months (end point of the study) with follow-up-points at 6 and 12 months. Findings are analyzed statistically considering a 5% significance level (p ≤ 0.05). Outcome variables are defined as change in (1) episodes of abdominal pain, (2) episodes of FI, (3) defecation frequency, (4) stool consistency. Improvement of proprioception, influence on urinary incontinence, quality of life and safety of treatment are assessed as secondary outcome variables. We expect a relevant improvement in both study groups. DISCUSSION: This is the first trial, evaluating effects of neuromodulation for constipation in children and adolescents and comparing effects of the invasive and non-invasive application (SNM vs. ENM). TRIAL REGISTRATION: The study is registered with clinicaltrials.gov, Identifier NCT04713085 (date of registration 01/14/2021).

A comparative observational study on intrasphincteric injections with Botulinum toxin vs. enteral neuromodulation in chronic refractory constipation.

PURPOSE: Botulinum toxin injections in the anal sphincter apparatus (Botox) and enteral neuromodulation (ENM) are options for treatment of refractory chronic constipation. We present a retrospective comparative observational study. PATIENTS AND METHODS: From 2014 to 2022, pediatric patients with chronic constipation were either treated with Botox or ENM with continuation of conservative treatment. Comparison was conducted regarding the primary outcome variables defecation frequency, stool consistency, and abdominal pain. Secondary outcomes were fecal incontinence, enuresis, change of medication and safety of treatment. RESULTS: 19 Botox patients (10 boys, 9 girls, 12 patients with Hirschsprung disease (HD), 7 patients with functional constipation (FC)) were compared to 24 ENM patients (18 boys, 6 girls, 12 HD patients, 7 FC patients). Groups differed significantly in age (5.0 years (Botulinum toxin) and 6.5 years (ENM), mean values, p-value 0.008). Improvement of constipation was seen in 68% (n = 13/19) of Botox and 88% (n = 21/24) of ENM patients (p = 0.153). Influence of etiology on therapeutic effects was not observed. Complications were minor. CONCLUSIONS: Botox and ENM can be considered as valuable and effective treatment options in refractory chronic constipation. Prospective, large-population studies should be designed to enable improved evidence.

Treatment of pediatric fistula-in-ano-Sphincter-sparing non-cutting seton placement as the future treatment of choice?

Background: Therapeutic principles of fistula-in-ano (FIA) are lacking evidence-based consensus on treatment options. Non-cutting, sphincter-sparing options have not been published for infancy and childhood FIA. Patients and methods: We are presenting retrospective data on FIA treatment with non-cutting seton placement between 2011 and 2020. Data were collected based on medical records and complemented by patients' contact for follow-up analyses between November 2021 and October 2022. Data were analyzed regarding the outcome variables of recurrent FIA and recurrent perianal abscess. Furthermore, outcomes in different age groups were compared (<1/1.5-12 years of age). Results: Treatment duration with non-cutting seton was at a median of 4.6 months and was not associated with recurrent FIA (p = 0.8893). Overall recurrence rate of FIA within an observation time of 9 months postsurgically was at 7% (n = 3/42) and was only seen in infancy, whereas recurrent perianal abscess was mainly observable in children (n = 2, p = 0.2132). Comparison of age groups revealed no significant differences. Of the 42 included patients, 37 responded in the follow-up analysis, resulting in a response rate of 88% with a median follow-up time of 4.9 years. Fecal incontinence was postsurgically only seen in two patients, who were diagnosed prior to surgery and symptoms remained unchanged. Conclusions: Non-cutting seton placement might be a promising option in the treatment of FIA in infancy and childhood. Perioperative settings like duration of placed seton and antibiotic treatment have to be discussed in further prospective, enlarged population-based studies.

Monopolar and Bipolar Combination Injuries of the Clavicle: Retrospective Incidence Analysis and Proposal of a New Classification System.

Clavicle injuries are common, but only few case reports describe combined clavicular injuries (CCI). CCI include combinations between clavicular fractures and acromioclavicular/sternoclavicular joint dislocations (SCJD). We present the first general therapeutic recommendations for CCI based on a new classification and their distribution. A retrospective, epidemiological, big data analysis was based on ICD-10 diagnoses from 2012 to 2014 provided by the German Federal Statistical Office. CCI represent 0.7% of all clavicle-related injuries (n = 814 out of 114,003). SCJD show by far the highest proportion of combination injuries (13.2% of all SCJD were part of CCI) while the proportion of CCI in relation to the other injury entities was significantly less (p < 0.023). CCIs were classified depending on (1) the polarity (monopolar type I, 92.2% versus bipolar type II, 7.8%). Monopolar type I was further differentiated depending on (2) the positional relationship between the combined injuries: Ia two injuries directly at the respective pole versus Ib with an injury at one end plus an additional midshaft clavicle fracture. Type II was further differentiated depending on (3) the injured structures: IIa ligamento-osseous, type IIb purely ligamentous (rarest with 0.6%). According to our classification, the CCI severity increases from type Ia to IIb. CCI are more important than previously believed and seen as an indication for surgery. The exclusion of further, contra-polar injuries in the event of a clavicle injury is clinically relevant and should be focused.

Medial injuries of the clavicle: more prevalent than expected? A big data analysis of incidence, age, and gender distribution based on nationwide routine data.

PURPOSE: Although shoulder-girdle injuries occur frequently, injuries of the medial part remain widely unexplored. This study overviews these rare injuries with a focus on incidence, age, and sex distribution in Germany. METHODS: The data are based on diagnoses according to ICD-10 in all German hospitals provided by the German Federal Statistical Office. ICD-10 codes S42.01 (medial clavicle fracture, MCF) and S43.2 (sternoclavicular joint dislocation, SCJD) were evaluated in detail between 2012 and 2014. RESULTS: We identified 14,264 cases with medial clavicle injuries (MCIs). MCFs occurred more often (11.6% of all clavicle-related shoulder-girdle injuries vs. 0.6% for SCJD). Mean ages of MCI were significantly different between males (43.7 years) and females (57.1 years) (p < 0.01). Age demonstrated a bimodal distribution with peaks at 20 and 50 years, which were predominantly associated with males. Females showed more injuries at age beyond 70 years. This applies to both SCJD and MCF. The incidence rate of these shoulder-girdle injuries was 47.0 per 100,000 person-years, for MCIs overall 5.9 (4.1 for men, 1.8 for women). This indicates disparity with a significant predominance of male patients over females as for all shoulder-girdle injuries (p < 0.01). Among children (< 16 years old), the incidence rate showed no significant difference in gender ratio. CONCLUSION: MCIs appear more frequently than estimated so far and are distinguished from other clavicle fractures in that they occur more at higher age and peaking around 50 years. Further work on possible prevention strategies should focus on the most frequently affected groups of men around 20 and 50 years old.

A Pilot Study of Non-invasive Sacral Nerve Stimulation in Treatment of Constipation in Childhood and Adolescence.

Background/Aims: Constipation shows both, a high prevalence and a significant impact. However, it is often perceived as minor and treatment choices are limited. The neuromodulation approach is a valuable option to be considered. This study assesses the use of non-invasive sacral nerve stimulation to reduce constipation in children. Methods: Between February 2013 and May 2015, pediatric patients with chronic constipation were treated with this non-invasive neuromodulation procedure, adapted from classical sacral nerve stimulation. A stimulation device attached to adhesive electrodes on the lower abdomen and back generated an electrical field with a stable frequency of 15 Hz via variable stimulation intensity (1-10 V). The effect of therapy was evaluated in routine check-ups and by specialized questionnaires. Results: The study assessed non-invasive sacral nerve stimulation in 17 patients (9 boys, 8 girls, mean age 6.5 years). They underwent stimulation with 6-9 V for a mean of 11 h per day (range 0.5-24 h) over a mean of 12.7 weeks. Improvement of constipation was achieved in more than half of the patients (12/17) and sustained in almost half of these patients (5/12). Complications were minor (skin irritation, electrode dislocation). Conclusions: Non-invasive sacral nerve stimulation appears to be effective in achieving improvement in pediatric patients with chronic constipation. As an additional external neuromodulation concept, this stimulation may represent a relevant addition to currently available therapeutic options. Further studies are needed to confirm these results.

From pullout-techniques to modular elastic stable chest repair: the evolution of an open technique in the correction of pectus excavatum.

BACKGROUND: Traditionally open procedures have been replaced by minimally invasive techniques in the correction of pectus excavatum. Efforts to improve the extent of mobilization of the chest wall and its stabilization have led to constant modifications. There is currently no consensus about the best procedure for correction of pectus excavatum. METHODS: Based on the contributions of a single institution for the last 60 years, we present the various strategies used for the correction of pectus excavatum and the evolution of operational procedures. These approaches are compared with those performed internationally at similar periods. RESULTS: Resections with external extension achieved moderate results and were modified in 1962 to the "Shred" method. The establishment of the "Strut" method in 1963 and, in 1977, its extension with the erection of the lower rib arches significantly improved patient outcomes. The "minimization" of the procedure in 2006 was accompanied by an increase in wound healing disorders and recurrent deformities. Since 2010, elastic stable chest repair (ESCR) has provided lossless mobilization and sternal elevation for healing costosternal pseudarthrosis and allowed correction of complex recurrences with excellent cosmetic-functional results. Strong asymmetric or broad-base deformities can now be stabilized using a modular hybrid technique of transsternal bar and locked plates. CONCLUSIONS: ESCR marks the end of the 60-year development of an open procedure and, after loss-free mobilization of the chest wall by elastic-stable biomechanical management, optimizes the possibility of anatomical reconstruction of the chest wall during initial and re-interventions, achieving a permanent, physiologically stable remodeling of the chest wall.

Postoperative pain in small-for-gestational age infants after hernia repair, orchidopexy and urethral reconstruction surgery: A pilot study.

BACKGROUND: Small-for-gestational-age (SGA) birth bears an enhanced risk of developing hypertension, obesity, insulin resistance and mental health disorders in later life as a consequence of adaptive processes in utero. Only a small number of studies on pain perception in SGA infants exist. These are indicative of a blunted stress response to pain in SGA newborns. AIM: We initiated a pilot study investigating differences in postoperative pain perception between SGA and appropriate-for-gestational-age (AGA) infants. METHODS: Pain and alertness levels of 10 formerly SGA and 14 AGA infants at the age 0.5-2 years were evaluated by the FLACC scale, Steward and Aldrete Scores following hernia repair, reconstructive surgery of hypospadia and orchidopexy. In addition, the postoperative consumption of non-steroidal anti-inflammatory drugs was compared between SGA and AGA. RESULTS: Postoperative pain and alertness levels were not significantly different in SGA and AGA children. We did not observe significant group differences regarding the consumption of non-steroidal anti-inflammatory drugs. CONCLUSION: While previous studies were suggestive of a suppressed stress response to pain in SGA newborns, these findings did not fully translate into an altered response to pain beyond the newborn age. Further studies in a larger cohort seem necessary to verify this finding.

Elastic stable chest repair and its hybrid variants in 86 patients with pectus excavatum.

BACKGROUND: Complex and mature funnel chest deformities are traditionally managed with open surgical procedures. Elastic stable chest repair (ESCR) has been used successfully and safely for relapse corrections. Does pure plate osteosynthesis in ESCR allow comparable corrective potency and implant safety as hybrid methods with metal bars? METHODS: Data from 86 patients with open funnel chest correction between 2011 and 2015 were analyzed in this retrospective study. Exclusion criteria included being under 12 years of age, and having a history of septic wound healing disorder or other malignant diseases. Main groups consisted of ESCR and hybrid techniques, subgroups were primary and recurrence correction. Correction results and follow-up examinations at six and 12 weeks and at 1 year were statistically analyzed. RESULTS: A total of 38 ESCR and 48 hybrid methods were analyzed. Bar implantation was required in 77% (recurrence 34%) of patients. All patients received plates with different combinations e.g., longitudinal-sternal, costosternal and costo-sterno-costal. In all groups, follow-up uptake showed a funnel chest correction result at the anatomical level with healthy values according to the Haller index (ESCR 4.36-2.84, hybrid 6.99-2.74, P<0.001). No material dislocations were observed in any subgroup. CONCLUSIONS: ESCR and hybrid techniques represent promising and safe therapeutic approaches.

Asymmetric Omphalopagus in a Triplet after In Vitro Fertilization: A Rare Case of Conjoined Twinning.

INTRODUCTION: Asymmetric omphalopagus is a rare situation of conjoined twinning, in which a grossly defective twin is attached to the thorax and upper abdomen of the main twin. We describe a case of an asymmetric omphalopagus accompanied by a normal triplet after assisted reproductive technology (ART) and tried to further characterize the all aspects of the conjoined twins. Case Presentation: Perioperative diagnostic imaging was carried out followed by an autopsy to evaluate all aspects of the parasite accompanied by histological, immunohistochemical, and molecular biological evaluation. The parasite had well-developed lower extremities as well as upper extremities with a cleft hand syndrome. The sex was nondeterminable, but DNA fingerprinting revealed that both parasite and autosite are monozygotic, so are females. There was no sign of any axial skeleton or central nervous system. We found a rudimentary rectum with a nonpervious anus, a kidney, ureter, urinary bladder, and a blind-ending urethra. The blood supply of the parasite was connected to the vessel system of the autosite. CONCLUSIONS: To our knowledge, only two cases of parasitic omphalopagus after ART have been described to date. Altogether, 52 cases have been reported, and in most of them, the parasites were successfully separated.

Comparative studies of different types of osteosynthesis on the human corpse preparation in bilateral antero-lateral flail chest.

INTRODUCTION: Bilateral flail chest injuries are challenging in treatment and comparatively often require an operative stabilization of the anterior chest wall to re-establish normal physiological conditions of the chest wall in shape and statics. Various procedures have been described which are technically sophisticated for the surgeon. Consequently there is an increasing interest in potentials of operative care and their effectiveness on the anterolateral chest wall. MATERIALS AND METHODS: 12 Human cadavers were prepared and the natural Sternum Position (NP) was marked. A digital probe was fixed to the sternum at the height of the 4th intercostal space in order to measure and compare the stability of the thorax. Readings were taken of the sternal displacement at 1-5cm sagittal distance from NP in starting conditions and from every combination of materials. Serial osteotomies were performed on 2 locations on ribs 2-8 to induce bilateral flail chest. Afterwards the stabilization was achieved with different implants: RESULTS: The osteotomies lead to a subsidence of the sternum occurred to almost 75 mm from NP which corresponds to a maximal unstable situation. The unstable chest wall showed substantially more stabilization through the use of locking plates. Our materialcombinations showed a stability of up to 60% of normal. The more ribs were treated osteosynthetically, the higher the stability of the chest wall. DISCUSSION AND CONCLUSIONS: Locking plate fixation offers anatomically realignment of the ribs whereas metal strut support only lifts up the chest wall, but could not provide realignment of the dislocated ribs.

Does an external chest wall measurement correlate with a CT-based measurement in patients with chest wall deformities?

BACKGROUND: Measurements in chest wall deformities are typically conducted using a thorax caliper or a CT scan of the chest wall. This paper focuses on the possible correlation between these two methods to validate the reliability of the thorax caliper, minimize radiation exposure, and limit the usage of expensive imaging techniques. METHODS: We evaluated 95 consecutive patients (77 pectus excavatum (PE), 17 pectus carinatum (PC), 1 mixed deformity) who received surgical correction of the anterior chest wall. The results of the external chest wall measurements and the CT-based measurements were statistically compared. RESULTS: A significant correlation between the two measurements was observed in PE and PC at the highest point of the deformation. The strongest correlation was noted in PE. We also noted a correlation between the transverse diameter of the external measurement and the inner thoracic diameter of the CT scan but not for the sagittal diameters in the upper parts of the sternum. CONCLUSIONS: Thorax caliper measurements are suitable for determining the sagittal thoracic diameter at the maximum level of the deformity and the transverse diameter with an accuracy comparable to that of CT measurements. Since these values key, the thorax caliper is reliable for monitoring and documenting chest wall malformations. LEVEL OF EVIDENCE: Study of diagnostic test. Testing previously developed diagnostic criteria in a consecutive series of patients and a universally "gold" standard-Level I.

Symptoms in Pectus Deformities: A Scoring System for Subjective Physical Complaints.

Background The literature is silent on the relationship between symptoms and the Haller index. Nor is there a classification of the severity of the physical complaints. Materials and Methods Retrospectively, data from 128 patients (102 funnel, 25 pigeon chest patients, and 1 mixed type) were evaluated. To objectify the symptoms, we developed a score to describe the level of physical ailments. This score includes 10 different symptoms as well as the situation or frequency in which they occur and an impact factor. This depends on how much they affect everyday life. Results Pectus excavatum patients express physical complaints more frequently than pectus carinatum patients who actually suffer more from psychological stress. We could not find a correlation between the Haller index and symptoms or levels of ailment. Conclusion Pectus deformities are likely to cause physical and psychological complaints. Since the subjective symptoms did not show any correlation to the chest severity index, they are supposed to be independent from the deformity's extent.

Paediatric and adult soft tissue sarcomas with NTRK1 gene fusions: a subset of spindle cell sarcomas unified by a prominent myopericytic/haemangiopericytic pattern.

Neoplasms with a myopericytomatous pattern represent a morphological spectrum of lesions encompassing myopericytoma of the skin and soft tissue, angioleiomyoma, myofibromatosis/infantile haemangiopericytoma and putative neoplasms reported as malignant myopericytoma. Lack of reproducible phenotypic and genetic features of malignant myopericytic neoplasms have prevented the establishment of myopericytic sarcoma as an acceptable diagnostic category. Following detection of a LMNA-NTRK1 gene fusion in an index case of paediatric haemangiopericytoma-like sarcoma by combined whole-genome and RNA sequencing, we identified three additional sarcomas harbouring NTRK1 gene fusions, termed 'spindle cell sarcoma, NOS with myo/haemangiopericytic growth pattern'. The patients were two children aged 11 months and 2 years and two adults aged 51 and 80 years. While the tumours of the adults were strikingly myopericytoma-like, but with clear-cut atypical features, the paediatric cases were more akin to infantile myofibromatosis/haemangiopericytoma. All cases contained numerous thick-walled dysplastic-like vessels with segmental or diffuse nodular myxohyaline myo-intimal proliferations of smooth muscle actin-positive cells, occasionally associated with thrombosis. Immunohistochemistry showed variable expression of smooth muscle actin and CD34, but other mesenchymal markers, including STAT6, were negative. This study showed a novel variant of myo/haemangiopericytic sarcoma with recurrent NTRK1 gene fusions. Given the recent introduction of a novel therapeutic approach targeting NTRK fusion-positive neoplasms, recognition of this rare but likely under-reported sarcoma variant is strongly encouraged.

Association of genetic and psychological factors with persistent pain after cosmetic thoracic surgery.

The genetic control of pain has been repeatedly demonstrated in human association studies. In the present study, we assessed the relative contribution of 16 single nucleotide polymorphisms in pain-related genes, such as cathechol-O-methyl transferase gene (COMT), fatty acid amino hydrolase gene (FAAH), transient receptor potential cation channel, subfamily V, member 1 gene (TRPV1), and δ-opioid receptor gene (OPRD1), for postsurgical pain chronification. Ninety preoperatively pain-free male patients were assigned to good or poor outcome groups according to their intensity or disability score assessed at 1 week, 3 months, 6 months, and 1 year after funnel chest correction. The genetic effects were compared with those of two psychological predictors, the attentional bias toward positive words (dot-probe task) and the self-reported pain vigilance (Pain Vigilance and Awareness Questionnaire [PVAQ]), which were already shown to be the best predictors for pain intensity and disability at 6 months after surgery in the same sample, respectively. Cox regression analyses revealed no significant effects of any of the genetic predictors up to the end point of survival time at 1 year after surgery. Adding the genetics to the prediction by the attentional bias to positive words for pain intensity and the PVAQ for pain disability, again no significant additional explanation could be gained by the genetic predictors. In contrast, the preoperative PVAQ score was also, in the present enlarged sample, a meaningful predictor for lasting pain disability after surgery. Effect size measures suggested some genetic variables, for example, the polymorphism rs1800587G>A in the interleukin 1 alpha gene (IL1A) and the COMT haplotype rs4646312T>C/rs165722T>C/rs6269A>G/rs4633T>C/rs4818C>G/rs4680A>G, as possible relevant modulators of long-term postsurgical pain outcome. A comparison between pathophysiologically different predictor groups appears to be helpful in identifying clinically relevant predictors of chronic pain.

Surgical fixation of sternal fractures: preoperative planning and a safe surgical technique using locked titanium plates and depth limited drilling.

Different ways to stabilize a sternal fracture are described in literature. Respecting different mechanisms of trauma such as the direct impact to the anterior chest wall or the flexion-compression injury of the trunk, there is a need to retain each sternal fragment in the correct position while neutralizing shearing forces to the sternum. Anterior sternal plating provides the best stability and is therefore increasingly used in most cases. However, many surgeons are reluctant to perform sternal osteosynthesis due to possible complications such as difficulties in preoperative planning, severe injuries to mediastinal organs, or failure of the performed method. This manuscript describes one possible safe way to stabilize different types of sternal fractures in a step by step guidance for anterior sternal plating using low profile locking titanium plates. Before surgical treatment, a detailed survey of the patient and a three dimensional reconstructed computed tomography is taken out to get detailed information of the fracture's morphology. The surgical approach is usually a midline incision. Its position can be described by measuring the distance from upper sternal edge to the fracture and its length can be approximated by the summation of 60 mm for the basis incision, the thickness of presternal soft tissue and the greatest distance between the fragments in case of multiple fractures. Performing subperiosteal dissection along the sternum while reducing the fracture, using depth limited drilling, and fixing the plates prevents injuries to mediastinal organs and vessels. Transverse fractures and oblique fractures at the corpus sterni are plated longitudinally, whereas oblique fractures of manubrium, sternocostal separation and any longitudinally fracture needs to be stabilized by a transverse plate from rib to sternum to rib. Usually the high convenience of a patient is seen during follow up as well as a precise reconstruction of the sternal morphology.

Elastic Stable Chest Repair as a Means of Stabilizing the Anterior Chest Wall in Recurrent Pectus Excavatum with Sternocostal Pseudarthrosis: An Innovative Fixation Device.

INTRODUCTION: Open surgical procedures in the treatment of pectus excavatum (PE) involve predetermined incisions in the parasternal cartilage and the bony ribs. For some procedures, the ribs are even dissected from the sternum for better sternal mobilization and thus better elevation of the funnel. Secure restoration of the sternocostal junction is then required, with the consequence that healing may be quite impaired. Patients may also subsequently suffer from sternocostal nonunion, for example, pseudarthrosis, and dislocated ribs, as well as pain and a recurrence of PE. MATERIALS AND METHODS: Patients underwent another open surgery with revision of the pseudarthrotic sternocostal junctions and sufficient mobilization of the anterior chest wall, followed by an open reduction and internal fixation using Matrix Rib titanium plates (Synthes, Oberdorf, Switzerland). This procedure consisted of elevating the anterior chest wall and fixing the ribs to the sternum. In 2011 and 2012, we studied this procedure, known as elastic stable chest repair (ESCR), in a series of 20 patients. The patients underwent clinical and ultrasound examinations and X-ray radiographs after the operation, after 6 weeks, and at 3- and 12-month intervals. RESULTS: Follow-up showed high patient tolerance, although a loose plate was observed in one patient and a broken plate in three patients. A stable union was achieved for all sternocostal pseudarthroses. PE improved highly significantly (p < 0.001), as the Haller index decreased from 3.6 (range: 2.7-6.6, standard deviation [SD]: 0.92) to 2.7 (range: 2.0-3.7, SD: 0.42). Pain in the anterior chest wall was significantly reduced after the operation in the majority of cases. All but one patient was mobilized already the day after the operation. CONCLUSIONS: ESCR in recurrent PE achieved functional stabilization of the anterior chest wall combined with satisfactory results.

Immunohistochemical panel for the diagnosis of Hirschsprung's disease using antibodies to MAP2, calretinin, GLUT1 and S100.

AIMS: The diagnosis of Hirschsprung's disease is currently based on the identification of aganglionosis and the presence of an increase in acetylcholinesterase-positive hypertrophic nerve fibres in the large bowel submucosa. However, acetylcholinesterase staining is laborious and requires a skilled technician. The aim of this study was to identify a method for diagnosing Hirschsprung's disease reliably using an immunohistochemical panel of recently proposed markers. METHODS AND RESULTS: Sixty-nine specimens from 37 patients were evaluated. MAP2 and calretinin antibodies were shown to stain ganglia reliably in the submucosal and myenteric plexuses of normal tissue. By contrast, reduced staining of ganglia was observed in patients with Hirschsprung's disease. Staining for GLUT1 and S100 was used to evaluate the number and thickness of nerve fibres. Gain of GLUT1 and S100 expression was in contrast to the loss of calretinin and MAP2. Hypertrophic submucosal nerve fibres in Hirschsprung's disease develop a perineurium with a ring-like GLUT1 staining pattern similar in size and intensity to that observed in deeper subserosal tissue. CONCLUSIONS: The diagnosis of Hirschsprung's disease using immunohistochemical panels could be as accurate as with conventional frozen section techniques. In particular, the use of a combination of markers for ganglia and hypertrophic nerve fibres highlighting a prominent perineurium in Hirschsprung's disease could be an alternative method.

Malignant epithelioid peripheral nerve sheath tumor with prominent reticular/microcystic pattern in a child: a low-grade neoplasm with 18-years follow-up.

Malignant peripheral nerve sheath tumors (MPNSTs) constitute <2% of soft tissue neoplasms in children and display a wide histologic spectrum including low-grade and epithelioid variants, although most are high-grade spindle cell sarcomas. Here, we describe an unusual case of a large retroperitoneal epithelioid MPNST diagnosed in a 7-year-old girl without family history or clinical features of neurofibromatosis type 1. The patient was treated by repeated surgical interventions, polychemotherapy, autologous stem cell transplantation, and irradiation therapy. Over the years, she developed multiple disseminated abdominal recurrences but is currently alive with very slowly progressing disseminated intra-abdominal disease 18 years from initial diagnosis. Histologically, the tumor was composed of medium-sized polygonal and ovoid-to-spindled cells set within a copious myxoid matrix with a prominent reticular and microcystic pattern reminiscent of the recently described reticular/microcystic schwannoma. Immunohistochemistry revealed strong and diffuse expression of S100, CD56, CD57, collagen IV, and neuron-specific enolase, with negativity for perineurial cell markers (claudin-1, epithelial membrane antigen, and glucose transporter-1) and other lineage-specific mesenchymal and epithelial antigens. This unusual variant of low-grade MPNST must be differentiated from a variety of other entities, in particular benign perineurioma, myxoid neurofibroma, and benign reticular/microcystic schwannoma. Confinement of the recurrent disease to the abdominal cavity emphasizes the necessity of primary curative wide excision of this highly recurring but nonmetastasizing low-grade neoplasm.

Sternocostal dislocation following open correction of pectus excavatum-"stairway phenomenon": complication management by means of sternocostal locking titanium plate osteosynthesis.

INTRODUCTION: Some open surgical methods describe complete sternocostal dissection with subsequent resynthesis. Lack of consolidation with painful sternocostal instability and retrosternal dislocation of sternal rib tips are possible complications. MATERIALS AND METHODS: Seven patients with symptomatic unilateral sternocostal dislocation were included in this study. After diagnosis, confirmed by three-dimensional computed tomography (CT), patients underwent open surgery. All affected ribs were reset and fixed to the sternum with the aid of titanium implants. RESULTS: The patients had, on average, unilateral dislocation of 3.4 rib joints with 15.4 mm retrosternal dislocation, which was fixed with 2.3 plates. A titanium splint was also employed. The recurrent nature of the problem made procedures very time-consuming (average operation time: 3 hours 25 minutes). One patient suffered strong intraoperative bleeding requiring transfusion of blood products and access enlargement. Follow-up examinations showed high patient satisfaction (grade of 1.7; rating scale 1-6). Remaining rib instabilities were observed just as infrequently as were material failures. The sternocostal rib splint in the costal cartilage became loose and was removed. One patient exhibited a pectoral muscle asymmetry. No other complications were observed. CONCLUSION: The term "stairway phenomenon" describes the dislocation of sternocostal joints. Observed after open pectus excavatum correction it can trigger substantial physical complaints. Thus, preserving those joints during pectus repair is strongly recommended. Locking titanium plates are a safe alternative to sternocostal suture fixation and is characterized by high patient satisfaction.