Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study.

Introduction: The higher rate of neuropsychiatric disorders in individuals with non-syndromic orofacial clefts has been well documented by previous studies. Our goal was to identify children with non-syndromic orofacial clefts that are at risk for abnormal neurodevelopment by assessing their developmental history and present cognitive functioning. Materials and methods: A single-center, case-controlled study was carried out at the Department of Pediatrics of the University of Pécs in Hungary. The study consisted of three phases including questionnaires to collect retrospective clinical data and psychometric tools to assess IQ and executive functioning. Results: Forty children with non-syndromic oral clefts and 44 age-matched controls participated in the study. Apgar score at 5 min was lower for the cleft group, in addition to delays observed for potty-training and speech development. Psychiatric disorders were more common in the cleft group (15%) than in controls (4.5%), although not statistically significant with small effect size. The cleft group scored lower on the Continuous Performance Test. Subgroup analysis revealed significant associations between higher parental socio-economic status, academic, and cognitive performance in children with non-syndromic orofacial clefts. Analyzes additionally revealed significant associations between early speech and language interventions and higher scores on the Verbal Comprehension Index of the WISC-IV in these children. Discussion: Children with non-syndromic orofacial clefts seem to be at risk for deficits involving the attention domain of the executive system. These children additionally present with difficulties that affect cognitive and speech development. Children with non-syndromic orofacial clefts show significant skill development and present with similar cognitive strengths as their peers. Longitudinal studies with larger sample sizes are needed to provide more conclusive evidence on cognitive deficits in children with non-syndromic orofacial clefts at risk for neurodevelopmental difficulties.

Complex management of children affected with cleft lip and palate associated with genetic syndromes / Ajak- és szájpadhasadékkal társult genetikai szindrómás gyermekek komplex ellátása

Introduction: The majority of facial clefts are isolated developmental anomalies. In a minority of the cases, however, facial clefts may occur as part of particular genetic syndromes. Objective: We aimed to analyse the treatment of the syndromic patients and determine whether the algorithm of complex treatment ­ used in non-syndromic patients ­ has changed in patients who had syndromes. Method: Documentation of the patients, treated by the Pecs Cleft Team between 1999 and 2015, were obtained and analysed retrospectively. These included surgical and genetical data as well. Epidemiological data from the national registry of birth were also used. Results: 607 patients were treated by the Cleft Team in the given period. Among these patients, 25 (4.11%) were found to have associated anomalies. Sixteen patients (2.6%) were identified as having a particular syndrome. 8 different syndromes occurred. Robin sequence represented 50% of this cohort. In 13 patients, the usual treatment algorithm had to be modified. The modifications were necessary due to the given genetic syndromes. Conclusion: Genetic syndromes significantly may affect the treatment algorithm in children born with cleft lip and palate. The (surgical) treatment of associated anomalies have priority over the reconstruction of cleft lip and palate.

The Influence of Genetic Syndromes on the Algorithm of Cleft Lip and Palate Repair - A Retrospective Study.

Introduction: This study aimed to determine if the treatment algorithm used for nonsyndromic cleft patients required alteration to manage syndromic cleft lip and/or palate patients. Methods: The records of patients managed by the Pécs Cleft Team between January 1999 and December 2015 were analyzed retrospectively. The sources of the data included clinical and genetic records. Results: A total of 607 patients were managed by the cleft team during the study. Sixteen patients (2.6%) were noted to be afflicted with a particular identifiable syndrome. Seven different genetic syndromes and one sequence were present in the study. The Pierre Robin sequence occurred most often, comprising 50% of the cohort. The treatment algorithm used in managing nonsyndromic clefts required modification in 13 of the 16 syndromic patients. Discussion: The presence of a genetic syndrome may notably affect the treatment algorithm in children born with cleft lip and/or palate. The surgical treatment of certain associated anomalies has by necessity, priority over the timing of the reconstruction of the cleft lip and/or cleft palate in syndromic patients.

Cystic lesions of the testis in infancy ­ case series of four patients / A here cysticus elváltozásai csecsemokorban - négy eset ismertetése.

Összefoglaló. Csecsemokorban a here cysticus elváltozásai ritka entitásnak számítanak. Az angol nyelvu szakirodalom kevés hasonló esetrol számol be, a 2000-es évek elejéig publikált esetek harmadában orchiectomia történt. A hisztológia a leggyakrabban teratomát, a legritkábban egyszeru cystát igazol. Mindkét elváltozás jóindulatú, egyéves kor alatt a leggyakoribb. Közleményünkkel arra szeretnénk felhívni a figyelmet, hogy ezen esetek kezelése során törekedni kell a here megtartására. A Pécsi Tudományegyetem Klinikai Központ Gyermekgyógyászati Klinikájának Manuális Tanszékén és a Heim Pál Országos Gyermekgyógyászati Intézet I. Gyermek Ssebészeti és Traumatológiai Osztályán 2015 és 2018 között 4 csecsemoben észleltük a here cysticus elváltozását. A betegek kórtörténeti adatainak részletes retrospektív elemzését és a szakirodalom áttekintését végeztük. Mind a 4 alkalommal a csecsemo féléves kora elott észleltek egyoldali, panaszokat nem okozó herezacskófél-megnagyobbodást. Az ultrahangvizsgálat 3 esetben szoliter cysticus képletet talált. 1 esetben szeptált, suru folyadékkal telt cysticus képletet véleményezett, számottevo hereállomány nem mutatkozott. Ennél a betegnél mágnesesrezonancia-vizsgálat is készült, mely teratoma lehetoségét vetette fel. A feltárás során mindegyik csecsemoben cysticus képletet találtunk. 3 betegnél hereszövet-megtartó mutétet (enucleatiót) végeztünk. 1 esetben az érdemben megtartható hereszövet hiánya, valamint teratoma gyanúja miatt orchiectomia történt. A kórszövettan két esetben egyszeru cystát, két esetben praepubertalis teratomát igazolt, melyek jóindulatú elváltozások. A here cysticus elváltozásai csecsemokorban dönto többségben benignusak. Az egyszeru cysta és a praepubertalis teratoma egyaránt jóindulatú elváltozás, malignus transzformációra nem hajlamosak. A képalkotó eljárások közül az ultrahangvizsgálat elegendo lehet a kezelési terv felállításához. Mindig törekedni kell a here megtartására, a leheto legtöbb hereszövet megkímélésére. Kórszövettani vizsgálat nélkül a here eltávolítása ebben az életkorban nem javasolt. Orv Hetil. 2020; 161(48): 2043-2048. Summary. Cystic lesions of the testis are rare in infancy. Few similar case-series were published in the English literature. Orchiectomy was reported in one-third of the cases until the early 2000s. Histology mostly confirms teratomas, rarely simple cysts. Both are benign and most common under the age of one year. Our aim is to draw attention to the importance of testicular sparing surgery (enucleatio), whenever possible. At the Medical Centre of the Department of Pediatrics of the Division of Paediatric Surgery, Pécs and at the Department of Pediatric Surgery and Traumatology of the Heim Pal Children's Hospital, Budapest, four cystic testicular lesions were treated in infancy between 2015 and 2018. We performed retrospective analysis and reviewed relevant literature. Our patients were under six months and an unilateral, painless scrotal enlargement appeared. Ultrasound described cystic lesion in the testis in three cases. In one case a septated, echogenic, liquid-filled cystic lesion was detected, with no significant amount of testicular tissue. Magnetic resonance imaging scan of this patient predicted the diagnosis of teratoma. During the surgeries, cystic lesions were found in all cases. Enucleatio was performed in three patients. Orchiectomy was carried out once due to the suspicion of teratoma and the lack of salvageable testicular tissue. Histopathology confirmed simple cysts in two babies and prepubertal teratomas in the others. Testicular cystic lesions are predominantly benign in infancy. Simple cysts and prepubertal teratomas are benign, not prone to malignant transformation. Ultrasound is reliable for preoperative planning. Testicular tissue sparing surgery must be considered and without histopathology orchiectomy should not be performed. Orv Hetil. 2020; 161(48): 2043-2048.

Re-evaluation of histological findings after colocystoplasty and gastrocystoplasty.

INTRODUCTION: The potential of malignant transformation and its risk factors after bladder augmentation performed in childhood are still unknown. The necessity of surveillance cystoscopies and biopsies has been questioned in the past decade. OBJECTIVE: In a previous study, the authors did not detect any malignancy after colocystoplasty (CCP) or gastrocystoplasty (GCP) during the short-term follow-up, however, various alterations of the mucosa were found. A correlation between the nature of histological changes and the frequency of bacterial colonization after CCP were also found. The authors hypothesized that a longer-term follow-up of their patients would reveal an increase in pathological change or show stronger association between the histological alteration, bacterial colonization, and/or stone formation. PATIENTS AND METHODS: Thirty-five patients (20 cases of colocystoplasties - CCPs; 15 cases of gastrocystoplasties - GCPs) participated in the study published in 2002. All patients were followed biannually with endoscopic assessment and biopsies. Two independent pathologists, evaluated regular biopsies from the native bladder, from the segment used for augmentation and from the anastomosis line. Etiology, frequency of positive urine cultures, and stone events were recorded and compared with histological findings between groups and with the previously published results. RESULTS: Continuous surveillance allowed the follow-up of 30 patients (CCP 19/20, GCP 11/15) for 20 and 15 years. No malignancies were identified. Results of biopsies showed significant difference between groups (summarized in the tables). Chronic inflammatory changes were found following both types of augmentations, but they were more common in the urothelium following GCP and more common in the colonic mucosa following CCP. The rate of metaplastic lesions was higher after gastrocystoplasty (GCP). Significant association was found between the etiologic factor and the nature of histological change after CCP, as metaplastic lesions occurred only in patients with bladder exstrophy. Stones occurred more frequently in exstrophy patients as well. The nature of the histological changes did not correlate with positive urine cultures in either of the groups. Significantly higher incidence of bacterial colonization and stone occurrence were found after CCP. CONCLUSIONS: Long-term follow-up of the patients failed to reveal an increase in pathological changes, and no malignancies were observed. According to the results of this study, etiology of bladder dysfunction and the type of augmentation might influence the histological alterations after augmentation cystoplasty. The efficiency of surveillance cystoscopies and biopsies are low. The present data suggest that surveillance cystoscopy and biopsy should not be routinely performed, and should be done only if the symptoms are suspicious for malignancy.

[Differential diagnosis of abdominal cysts in children]. / Hasi cysták és cystosus képletek differenciáldiagnózisa gyermekkorban.

19 children were diagnosed with abdominal cysts of different origin in the Surgical Unit of the Department of Pediatrics, Medical University of Pécs, Hungary between 2010 and 2013. The authors discuss the details of representative cases of a parovarial cyst, an intestinal duplication, and an omental cyst with emphasis on the clinical symptoms, diagnostic tools, and surgical interventions. The authors conclude that abdominal cysts often cause mild symptoms only, and they are discovered accidentally by ultrasound imaging performed for other reasons. In some cases, the cyst can cause severe complaints or even acute abdomen requiring emergency surgery. Laporoscopy may be a valuable method both in diagnosis and surgical therapy. Abdominal CT or MRI are not required in the majority of the patients.

Composite urinary reservoir in dogs: histological findings.

PURPOSE: This animal study was designed to investigate whether the composite urinary reservoir might lessen the premalignant histological alterations observed after bladder augmentation performed with a gastric segment or large bowel. MATERIALS AND METHODS: Composite urinary reservoirs were created using gastric and colonic segments simultaneously in 8, 3-month-old female beagle dogs by augmenting half the native bladder. Two dogs with gastrocystoplasty and 2 with colocystoplasty served as controls. Biopsies were taken from the native bladder, and the gastric and colonic segments at augmentation, and endoscopically 4 and 8 months postoperatively. The dogs were sacrificed and open biopsied 12 months postoperatively. Tissue specimens were examined with routine hematoxylin and eosin, reaction and immunohistological staining for PCNA. RESULTS: At the creation of composite reservoir and gastrocoloplasty or colocystoplasty all specimens showed normal histology. At 12 months postoperatively dysplasia was found in 1 gastric segment, 2 native bladders and 3 colonic segments in the composite reservoir group. There was a single carcinoma in situ in 1 gastric segment in the composite reservoir group. In the control groups 1 colonic segment and 1 native bladder dysplasia were detected at the end of 12-month followup. There was an in situ carcinoma in 1 gastric segment in the composite reservoir. CONCLUSIONS: A composite reservoir did not decrease premalignant changes in dogs during 12 months of followup. Laboratory investigations, molecular studies and longer followup are needed to approach the question of early malignant alterations after augmentation cystoplasty in animals and patients.

Complications after bladder augmentation or substitution in children: a prospective study of 86 patients.

OBJECTIVE: • To evaluate complications after urinary bladder augmentation or substitution in a prospective study in children. PATIENTS AND METHODS: • Data of 86 patients who underwent urinary bladder augmentation (80 patients) or substitution (6 patients) between 1988 and 2008 at the authors' institute were analysed. • Ileocystoplasty occurred in 32, colocystoplasty in 30 and gastrocystoplasty in 18. Urinary bladder substitution using the large bowel was performed in six patients. • All patients empty their bladder by intermittent clean catheterization (ICC), 30 patients via their native urethra and 56 patients through continent abdominal stoma. Mean follow-up was 8.6 years. • Rate of complications and frequency of surgical interventions were statistically analysed (two samples t-test for proportions) according to the type of gastrointestinal part used. RESULTS: • In all, 30 patients had no complications. In 56 patients, there were a total of 105 complications (39 bladder stones, 16 stoma complications, 11 bowel obstructions, 5 reservoir perforations, 7 VUR recurrences, 1 ureteral obstruction, 4 vesico-urethral fistulae, 4 orchido-epididymitis, 4 haematuria-dysuria syndrome, 3 decreased bladder capacity/compliance, 3 pre-malignant histological changes, 1 small bowel bacterial overgrowth and 7 miscellaneous). • In 25 patients, more than one complication occurred and required 91 subsequent surgical interventions. Patients with colocystoplasty had significantly more complications (P < 0.05), especially more stone formation rate (P < 0.001) and required more post- operative interventions (P < 0.05) than patients with gastrocystoplasty and ileocystoplasty. CONCLUSIONS: • Urinary bladder augmentation or substitution is associated with a large number of complications, particularly after colocystoplasty. • Careful patient selection, adequate preoperative information and life-long follow-up are essential for reduction, early detection and management of surgical and metabolic complications in patients with bladder augmentation or substitution.

Quality of life: urinary bladder augmentation or substitution in children.

PURPOSE: Bladder augmentation and substitution has been assumed to improve health-related quality of life in patients with urinary incontinence. This study was performed to elicit an evidence base for or against the above hypothesis. METHODS: Between 1988 and 2006, 67 bladder augmentations and 7 bladder substitutions were performed at our institute. Inclusion criteria for the cross-sectional study were a postoperative period of more than 1 year and an age of at least 10 years at the time of operation. A multimodality treatment-specific questionnaire (comprising 38 questions) was designed and sent to 61 patients. Quality of life was investigated in all patients and between the groups of patients with meningomyelocele (Group A) versus bladder exstrophy (Group B), patients, who are catheterizing themselves via urethra (Group C) versus stoma (Group D) and patients who are using (Group E) versus not using wheelchair (Group F) following the surgery. For the statistical analysis Students t test, Wilcoxon signed rank test and correlation analysis were used. RESULTS: A significant overall improvement was found in patients quality of life following this surgery (P < 0.05). Ninety percent of patients would prefer again bladder augmentation or substitution to their previous state. Patients with meningomyelocele are changing pads or diapers more frequently than exstrophy patients because of their bowel problems postoperatively. Quality of life improved better in patients performing CIC via stoma than in patients who perform it via their native urethra (P < 0.05). Outcomes were independent of patients age and of the post-augmentation time to assessment (P < 0.05). CONCLUSIONS: Bladder augmentation or substitution significantly improved the health-related quality of life in children and young adolescents taking part in the study. The authors are planning a prospective long-term follow-up of the patients (longitudinal study) to validate the results.

Posterior sagittal approach with perirectal dissection for reconstructive surgery of severe urogenital anomalies.

There are many approaches for surgery of complicated congenital and acquired urogenital anomalies in children with intact rectum. Pena advocates the mid-sagittal division of the sphincter mechanism posterior and anterior to the rectum, along with opening of the posterior and anterior rectal walls. The aim of this study is to determine whether the posterior sagittal approach with perirectal dissection (PSAPD) and elevation of the mobilized rectum would impair fecal continence when used for correction of complicated urogenital anomalies in children with normal rectum. Between 1988 and 1994 the authors performed PSAPD in eight infants and children with an intact anorectum. Indications for PSAPD were high vaginal atresia, Mullerian duct remnants, prostatic rhabdomyosarcoma, and traumatic vesicovaginal fistula. After a mean 10-year follow-up the bowel habits were assessed. Anorectal and uromanometric studies and a detailed questionnaire (modified Holschneider's scoring) sent to children or parents were evaluated. Three patients who preoperatively were clinically fecal continent had soiling only at the time of diarrhea. Early postoperative low anorectal pressure profile normalized during the follow-up. Seven patients had a fecal continence score above 23, two of them with maximum points of 26. Only one girl had a low score of 15. The authors conclude the PSAPD which offers a few advantages over the sagittal division of the rectum provides an alternative approach for selected lesions of the genitourinary tract in children with a normal rectum. Our results suggest that fecal continence is either preserved or partially affected.

Primary psoas abscess in a neonate.

A case of primary ileo-psoas abscess in a neonate is presented. Psoas abscess is extremely uncommon in this age group. The role of ultrasound and computed tomography in the diagnosis is demonstrated, and the need for antibiotic therapy is emphasized for a minimum period of 2 weeks.

Histologic findings after gastrocystoplasty in rabbits.

PURPOSE: The aim of this study was to investigate the long-term histologic changes after bladder augmentation with gastric segment in an animal subject. MATERIALS AND METHODS: Gastrocystoplasty was performed in 13 young, 3-month-old male rabbits. Open biopsies were taken from the native bladder and the gastric segment preoperatively and at 3, 6, and 12 months postoperatively. Sections were examined with H&E and periodic acid-Schiff (PAS) staining. Indirect immune peroxidase method was additionally applied to detect the carcinoembrionic antigen, the proliferative activity, and the gene for the tumor protein p53 in the epithelium. RESULTS: On the native bladder, at the 3-month follow-up, polyps, mucosal edema, submucosal fibrosis, and squamous cell metaplasia were detected, which did not change during the follow-up. On the gastric segment, at the 3-month follow-up, parietal cell hyperplasia and inflammatory mucosal overgrowth were detected; at the 6-month follow-up, inflammation or atrophy of the gastric mucosa and colonic-type metaplasia was found. These alterations remained unchanged during later course of follow-up. Neither dysplasia nor malignancy was observed during the 12-month follow-up. CONCLUSIONS: The present study supports the clinical observations of low cancer risk after gastrocystoplasty and may indicate different effect of gastric secretion on uroepithelium and that of urine on gastric mucosa.

Seromuscular gastrocystoplasty in dogs.

INTRODUCTION: The aim of this study was to investigate the feasibility of seromuscular gastrocystoplasty (SGCP) in an animal model and to compare it to conventional gastrocystoplasty (CGCP). MATERIALS AND METHODS: CGCP and SGCP (using gastric segments without mucosa) were each performed in 6 dogs. In both procedures, two-thirds of the dome of the bladder were excised and the gastric segment anastomosed to the bladder remnant. Cystography, cystomanometry, measurements of urine pH, and gross and microscopic pathological studies were carried out preoperatively, and postoperatively, at 6 and 12 weeks. RESULTS: All seromuscular gastric segments proved viable, and 6 weeks after the operation they were covered by a thin layer of transitional epithelium, which had gradually thickened by the end of the 12-week follow-up. There was no difference in bladder capacity and compliance between the two groups, however, fasting urinary pH values were higher (less acidic) in the SGCP group. CONCLUSIONS: Stripping off the mucosa of the gastric segment appears to stop hydrochloric acid secretion, thereby lessening the possible risk of ulceration, perforation, dysuria-haematuria, metaplasia and malignancy. The uroepithelium overgrowth of the seromuscular gastric segments might provide a more physiological neo-bladder than when using full-thickness gastrocystoplasty.