Purpose Aim of study was to evaluate the differences in incidence and presentation of anorectal m... more Purpose Aim of study was to evaluate the differences in incidence and presentation of anorectal malformations (ARMs) between selected Pediatric Surgery Divisions in the Republic of South Africa (ZAR) and Italy. Methods A retrospective cohort study involved analysis of clinical records of patients with ARM born between 2005 and 2012. Type of ARM, maternal age, birth weight, gestational age, presence of associated anomalies and delayed diagnosis were analyzed. Results 335 patients were included in this study. Of note, statistically significant differences between the African and European patient groups were observed in a male predominance in the ZAR patient population. In addition, female recto-perineal fistulas were diagnosed in significantly more Italian patients than in ZAR. Furthermore, a more advanced maternal age and a lower gestational age was noted in the European cohort with a minimal delay in initial diagnosis as opposed to the African counterpart. Both centers reported recto-perineal fistula as the most common malformation in male patients. Conclusion With the exception of perineal fistulas in females, the incidence of specific subtypes of ARMs was similar in the two groups. This may be of importance when extrapolating European study conclusion to the South African setting.
text: "Background/Purpose", "Methods", "Results", "Conclusions" (max. 300 words) BACKGROUND/PURPO... more text: "Background/Purpose", "Methods", "Results", "Conclusions" (max. 300 words) BACKGROUND/PURPOSE: To present a rare case of anorectal malformation (ARM) in a patient with Fraser syndrome.
In paediatric and adults patients with neurogenic bowel (NB), TransAnal Irrigation (TAI) of the c... more In paediatric and adults patients with neurogenic bowel (NB), TransAnal Irrigation (TAI) of the colon has gained popularity due to the introduction of a specifically designed device. The aim of this pilot study was to present the results of TAI using Peristeen® Trans Anal Irrigation (PTAI) in a group of paediatric patients with anorectal malformations (ARM) and congenital or acquired spinal cord lesions (SCL). Method: Eight Italian paediatric surgery and spina bifida centres participated in the study. The inclusion criteria were age between 6-17 years, weight above 20 kg, and unsatisfactory bowel management. Patients with chronic inflammatory bowel disease, mental disability and surgery within the previous three months were excluded. At the beginning of treatment (T0) and after three months (T1), the Bristol scale, a questionnaire assessing bowel function and two questionnaires on quality of life for patients aged 6-11 years (CHQ pf50) and 12-17 years (SF36) were administered. Results: Eighty-three patients were enrolled, and seventy-eight completed the study (41 ARM, 37 SCL). At T1, constipation was reduced in ARM from 69% to 25,6% and in SCL from 92,7% to 41,5%, faecal incontinence in ARM from 50% to 18.6%, and in SCL from 39% to 9.8% and flatus incontinence in ARM from 20.9% to 9,8%, and in SCL from 31.7% to 10%. At T0, the Bristol Stool Scale types were 1-2 in 45% of ARM and 77.5% of SCL patients, whereas at T1 types 1-2 were recorded in only 2,5% of SCL patients. Quality of life (QoL) improved in both groups. In the younger group, a significant improvement in QoL was recorded in ARM patients for 8 of 9 variables and in SCL patients for 7 of 9 variables. Conclusion: This study showed that PTAI resulted in a significant time reduction in colonic cleansing, increased independence from the carer, and improved QoL in paediatric patients with ARM and SCL.
Cryptorchidism represents the most frequent male genital anomaly in paediatric population and may... more Cryptorchidism represents the most frequent male genital anomaly in paediatric population and may potentially interfere with fertility and determine neoplastic testicular diseases. We wanted to evaluate the correlation between age at orchiopexy and follicle-stimulating hormone (FSH), luteinizing hormone (LH) and testosterone levels in adulthood, determining the long-term complications of surgical treatment. Fifty-seven patients (mean age 19 years, range 18-27) surgically treated for cryptorchidism in pediatric age were included in a medium and long-term follow-up (10-19 years). We divided this population into four groups: A) monolateral cryptorchidism operated on before 36 months of age (15); B) monolateral cryptorchidism operated on over 36 months (32); C) bilateral cryptorchidism operated on before 36 months (5); and D) bilateral cryptorchidism operated on over 36 months (5). All patients underwent andrological examination, testosterone, FSH and LH dosage, measurement of testicula...
Thoracic tumours of childhood arise either in the mediastinum, or from the chest wall and rarely ... more Thoracic tumours of childhood arise either in the mediastinum, or from the chest wall and rarely from the lung parenchyma. Mediastinal teratoma occur in the anterior mediastinum and are usually very large at presentation; initial treatment is under discussion, but it appears that surgical excision and histological examination are the treatments of choice and it will determine whether the lesion is benign or malignant. The authors report a case of thoracic-abdominal teratoma, diagnosed in utero, and treated successfully with thoracoscopy and laparoscopy. No complication was described in short follow up, and the child was discharged in day 8th postoperative day. Histology showed mature teratoma. Follow-up at one year: no evidence of recurrence. Due to the rarity of multifocal teratoma in newborns, author believe that mini-invasive technique was useful to stage histological the mass, giving the opportunity to plans a second stage in treatment of the patient. Day of hospitalization resu...
Neck masses are rare in newborns and can represent a big challenge for the paediatric surgeons. D... more Neck masses are rare in newborns and can represent a big challenge for the paediatric surgeons. Different histological types are reported in the recent literature; while 80% of neck masses are benign, the pediatric surgeon is often called upon to assist in the evaluation, diagnosis and treatment. A two-month old baby was evaluated for an asymptomatic left sided cervical mass, presented at birth, which slowly increased in size. A magnetic resonance imaging scan was performed, with evidence of capsulated solid neck mass, lateral to the sternocleidomastoid muscle, not including the major vassel structures of the neck. The patient underwent surgical excision in the criteria to define the histology of the mass. A well capsulated mass was detected at surgery. At histology, an ectopic cervical thymus tissue was reported. The ectopic cervical thymus is an uncommon entity with only 91 cases reported; only nine occurred in infants, two in the neonatal period. According to the authors, in case...
Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated ... more Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated for anorectal malformations (ARMs) with good prognosis. Methods: Thirty patients underwent clinical evaluation by Rintala score and anorectal manometry recording anal resting pressure (ARP), rectoanal inhibitory reflex (RAIR), and rectal volume (RV). The results were analysed with regard to sex, type of ARM, surgical timing of posterior sagittal anorectoplasty (PSARP), neurospinal cord dysraphism (ND), neonatal colostomy, and institution where they underwent surgery. Results: 6/30 (20%) presented ND despite normal sacrum. 17/30 (57%) patients had a normal Rintala score. ND and neonatal colostomy were significantly associated with a pathologic score (p = 0.0029 and p = 0.0016). Patients with ND had significantly lower ARP compared to patients with normal spine (23.5 ± 7.2 mmHg vs 32 ± 7.9 mmHg, p = 0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22 ± 10.24 mmHg vs 32.57 ± 6.68 mmHg, p = 0.026). RAIR was present in only 2/6 (33%) patients with ND, while in 21/24 (87.5%) without ND (p = 0.015) and in 4/9 (44%) patients with neonatal colostomy, while in 19/21 (90.5%) patients submitted to primary repair (p = 0.014). Conclusions: Neurospinal cord dysraphism may be present despite normal sacral ratio. From a clinical point of view, patients with good prognosis ARMs are not completely comparable to healthy children. Neurospinal cord dysraphism and neonatal colostomy seem to worsen the clinical and manometric (ARP and RAIR) outcomes of these patients.
Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated ... more Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated for anorectal malformations (ARMs) with good prognosis. Methods: Thirty patients underwent clinical evaluation by Rintala score and anorectal manometry recording anal resting pressure (ARP), rectoanal inhibitory reflex (RAIR), and rectal volume (RV). The results were analysed with regard to sex, type of ARM, surgical timing of posterior sagittal anorectoplasty (PSARP), neurospinal cord dysraphism (ND), neonatal colostomy, and institution where they underwent surgery. Results: 6/30 (20%) presented ND despite normal sacrum. 17/30 (57%) patients had a normal Rintala score. ND and neonatal colostomy were significantly associated with a pathologic score (p = 0.0029 and p = 0.0016). Patients with ND had significantly lower ARP compared to patients with normal spine (23.5 ± 7.2 mmHg vs 32 ± 7.9 mmHg, p = 0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22 ± 10.24 mmHg vs 32.57 ± 6.68 mmHg, p = 0.026). RAIR was present in only 2/6 (33%) patients with ND, while in 21/24 (87.5%) without ND (p = 0.015) and in 4/9 (44%) patients with neonatal colostomy, while in 19/21 (90.5%) patients submitted to primary repair (p = 0.014). Conclusions: Neurospinal cord dysraphism may be present despite normal sacral ratio. From a clinical point of view, patients with good prognosis ARMs are not completely comparable to healthy children. Neurospinal cord dysraphism and neonatal colostomy seem to worsen the clinical and manometric (ARP and RAIR) outcomes of these patients.
Although appendicitis is the condition that most commonly requires emergent abdominal surgery in ... more Although appendicitis is the condition that most commonly requires emergent abdominal surgery in the paediatric population, less than 2% of the disease occurs in infants and it is even more uncommon in neonates. In this report, we describe a rare case of a 14-month-old child presenting with abdominal pain first diagnosed with upper respiratory tract infection and then admitted to our Paediatric Surgery Department with a final diagnosis of acute appendicitis. A particular attention has to be kept on children presenting with an upper respiratory tract infection since symptoms can mask abdominal signs. Due to high morbidity and mortality rate related to a delayed diagnosis, appendicitis always has to be considered as a possible diagnosis, in order to ensure a prompt treatment.
Background Pediatric surgeons and patient organisations agree that fewer centers for anorectal ma... more Background Pediatric surgeons and patient organisations agree that fewer centers for anorectal malformations with larger patient numbers are essential to reach better treatment. The European Union transacts a political process which aims to realize such centers of expertise for a multitude of rare diseases. All the centers on a specific rare disease should constitute an ERN on that disease. ARM-Net members in different countries report on first experiences with the implementation of national directives, identifying opportunities and risks of this process. Methods Relevant details from the official European legislation were analyzed. A survey among the pediatric surgeons of the multidisciplinary ARM-Net consortium about national implementation was conducted. Results European legislation calls for multidisciplinary centers treating children with rare diseases, and proposes a multitude of quality criteria. The member states are called to allocate sufficient funding and to execute robust governance and oversight, applying clear methods for evaluation. Participation of the patient organisations is mandatory. The national implementations all over Europe differ a lot in respect of extent and timeframe. Conclusions Establishing Centers of Expertise and a ERN for anorectal malformations offers great opportunities for patient care and research. Pediatric surgeons should be actively engaged in this process.
Purpose Aim of study was to evaluate the differences in incidence and presentation of anorectal m... more Purpose Aim of study was to evaluate the differences in incidence and presentation of anorectal malformations (ARMs) between selected Pediatric Surgery Divisions in the Republic of South Africa (ZAR) and Italy. Methods A retrospective cohort study involved analysis of clinical records of patients with ARM born between 2005 and 2012. Type of ARM, maternal age, birth weight, gestational age, presence of associated anomalies and delayed diagnosis were analyzed. Results 335 patients were included in this study. Of note, statistically significant differences between the African and European patient groups were observed in a male predominance in the ZAR patient population. In addition, female recto-perineal fistulas were diagnosed in significantly more Italian patients than in ZAR. Furthermore, a more advanced maternal age and a lower gestational age was noted in the European cohort with a minimal delay in initial diagnosis as opposed to the African counterpart. Both centers reported recto-perineal fistula as the most common malformation in male patients. Conclusion With the exception of perineal fistulas in females, the incidence of specific subtypes of ARMs was similar in the two groups. This may be of importance when extrapolating European study conclusion to the South African setting.
text: "Background/Purpose", "Methods", "Results", "Conclusions" (max. 300 words) BACKGROUND/PURPO... more text: "Background/Purpose", "Methods", "Results", "Conclusions" (max. 300 words) BACKGROUND/PURPOSE: To present a rare case of anorectal malformation (ARM) in a patient with Fraser syndrome.
In paediatric and adults patients with neurogenic bowel (NB), TransAnal Irrigation (TAI) of the c... more In paediatric and adults patients with neurogenic bowel (NB), TransAnal Irrigation (TAI) of the colon has gained popularity due to the introduction of a specifically designed device. The aim of this pilot study was to present the results of TAI using Peristeen® Trans Anal Irrigation (PTAI) in a group of paediatric patients with anorectal malformations (ARM) and congenital or acquired spinal cord lesions (SCL). Method: Eight Italian paediatric surgery and spina bifida centres participated in the study. The inclusion criteria were age between 6-17 years, weight above 20 kg, and unsatisfactory bowel management. Patients with chronic inflammatory bowel disease, mental disability and surgery within the previous three months were excluded. At the beginning of treatment (T0) and after three months (T1), the Bristol scale, a questionnaire assessing bowel function and two questionnaires on quality of life for patients aged 6-11 years (CHQ pf50) and 12-17 years (SF36) were administered. Results: Eighty-three patients were enrolled, and seventy-eight completed the study (41 ARM, 37 SCL). At T1, constipation was reduced in ARM from 69% to 25,6% and in SCL from 92,7% to 41,5%, faecal incontinence in ARM from 50% to 18.6%, and in SCL from 39% to 9.8% and flatus incontinence in ARM from 20.9% to 9,8%, and in SCL from 31.7% to 10%. At T0, the Bristol Stool Scale types were 1-2 in 45% of ARM and 77.5% of SCL patients, whereas at T1 types 1-2 were recorded in only 2,5% of SCL patients. Quality of life (QoL) improved in both groups. In the younger group, a significant improvement in QoL was recorded in ARM patients for 8 of 9 variables and in SCL patients for 7 of 9 variables. Conclusion: This study showed that PTAI resulted in a significant time reduction in colonic cleansing, increased independence from the carer, and improved QoL in paediatric patients with ARM and SCL.
Cryptorchidism represents the most frequent male genital anomaly in paediatric population and may... more Cryptorchidism represents the most frequent male genital anomaly in paediatric population and may potentially interfere with fertility and determine neoplastic testicular diseases. We wanted to evaluate the correlation between age at orchiopexy and follicle-stimulating hormone (FSH), luteinizing hormone (LH) and testosterone levels in adulthood, determining the long-term complications of surgical treatment. Fifty-seven patients (mean age 19 years, range 18-27) surgically treated for cryptorchidism in pediatric age were included in a medium and long-term follow-up (10-19 years). We divided this population into four groups: A) monolateral cryptorchidism operated on before 36 months of age (15); B) monolateral cryptorchidism operated on over 36 months (32); C) bilateral cryptorchidism operated on before 36 months (5); and D) bilateral cryptorchidism operated on over 36 months (5). All patients underwent andrological examination, testosterone, FSH and LH dosage, measurement of testicula...
Thoracic tumours of childhood arise either in the mediastinum, or from the chest wall and rarely ... more Thoracic tumours of childhood arise either in the mediastinum, or from the chest wall and rarely from the lung parenchyma. Mediastinal teratoma occur in the anterior mediastinum and are usually very large at presentation; initial treatment is under discussion, but it appears that surgical excision and histological examination are the treatments of choice and it will determine whether the lesion is benign or malignant. The authors report a case of thoracic-abdominal teratoma, diagnosed in utero, and treated successfully with thoracoscopy and laparoscopy. No complication was described in short follow up, and the child was discharged in day 8th postoperative day. Histology showed mature teratoma. Follow-up at one year: no evidence of recurrence. Due to the rarity of multifocal teratoma in newborns, author believe that mini-invasive technique was useful to stage histological the mass, giving the opportunity to plans a second stage in treatment of the patient. Day of hospitalization resu...
Neck masses are rare in newborns and can represent a big challenge for the paediatric surgeons. D... more Neck masses are rare in newborns and can represent a big challenge for the paediatric surgeons. Different histological types are reported in the recent literature; while 80% of neck masses are benign, the pediatric surgeon is often called upon to assist in the evaluation, diagnosis and treatment. A two-month old baby was evaluated for an asymptomatic left sided cervical mass, presented at birth, which slowly increased in size. A magnetic resonance imaging scan was performed, with evidence of capsulated solid neck mass, lateral to the sternocleidomastoid muscle, not including the major vassel structures of the neck. The patient underwent surgical excision in the criteria to define the histology of the mass. A well capsulated mass was detected at surgery. At histology, an ectopic cervical thymus tissue was reported. The ectopic cervical thymus is an uncommon entity with only 91 cases reported; only nine occurred in infants, two in the neonatal period. According to the authors, in case...
Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated ... more Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated for anorectal malformations (ARMs) with good prognosis. Methods: Thirty patients underwent clinical evaluation by Rintala score and anorectal manometry recording anal resting pressure (ARP), rectoanal inhibitory reflex (RAIR), and rectal volume (RV). The results were analysed with regard to sex, type of ARM, surgical timing of posterior sagittal anorectoplasty (PSARP), neurospinal cord dysraphism (ND), neonatal colostomy, and institution where they underwent surgery. Results: 6/30 (20%) presented ND despite normal sacrum. 17/30 (57%) patients had a normal Rintala score. ND and neonatal colostomy were significantly associated with a pathologic score (p = 0.0029 and p = 0.0016). Patients with ND had significantly lower ARP compared to patients with normal spine (23.5 ± 7.2 mmHg vs 32 ± 7.9 mmHg, p = 0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22 ± 10.24 mmHg vs 32.57 ± 6.68 mmHg, p = 0.026). RAIR was present in only 2/6 (33%) patients with ND, while in 21/24 (87.5%) without ND (p = 0.015) and in 4/9 (44%) patients with neonatal colostomy, while in 19/21 (90.5%) patients submitted to primary repair (p = 0.014). Conclusions: Neurospinal cord dysraphism may be present despite normal sacral ratio. From a clinical point of view, patients with good prognosis ARMs are not completely comparable to healthy children. Neurospinal cord dysraphism and neonatal colostomy seem to worsen the clinical and manometric (ARP and RAIR) outcomes of these patients.
Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated ... more Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated for anorectal malformations (ARMs) with good prognosis. Methods: Thirty patients underwent clinical evaluation by Rintala score and anorectal manometry recording anal resting pressure (ARP), rectoanal inhibitory reflex (RAIR), and rectal volume (RV). The results were analysed with regard to sex, type of ARM, surgical timing of posterior sagittal anorectoplasty (PSARP), neurospinal cord dysraphism (ND), neonatal colostomy, and institution where they underwent surgery. Results: 6/30 (20%) presented ND despite normal sacrum. 17/30 (57%) patients had a normal Rintala score. ND and neonatal colostomy were significantly associated with a pathologic score (p = 0.0029 and p = 0.0016). Patients with ND had significantly lower ARP compared to patients with normal spine (23.5 ± 7.2 mmHg vs 32 ± 7.9 mmHg, p = 0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22 ± 10.24 mmHg vs 32.57 ± 6.68 mmHg, p = 0.026). RAIR was present in only 2/6 (33%) patients with ND, while in 21/24 (87.5%) without ND (p = 0.015) and in 4/9 (44%) patients with neonatal colostomy, while in 19/21 (90.5%) patients submitted to primary repair (p = 0.014). Conclusions: Neurospinal cord dysraphism may be present despite normal sacral ratio. From a clinical point of view, patients with good prognosis ARMs are not completely comparable to healthy children. Neurospinal cord dysraphism and neonatal colostomy seem to worsen the clinical and manometric (ARP and RAIR) outcomes of these patients.
Although appendicitis is the condition that most commonly requires emergent abdominal surgery in ... more Although appendicitis is the condition that most commonly requires emergent abdominal surgery in the paediatric population, less than 2% of the disease occurs in infants and it is even more uncommon in neonates. In this report, we describe a rare case of a 14-month-old child presenting with abdominal pain first diagnosed with upper respiratory tract infection and then admitted to our Paediatric Surgery Department with a final diagnosis of acute appendicitis. A particular attention has to be kept on children presenting with an upper respiratory tract infection since symptoms can mask abdominal signs. Due to high morbidity and mortality rate related to a delayed diagnosis, appendicitis always has to be considered as a possible diagnosis, in order to ensure a prompt treatment.
Background Pediatric surgeons and patient organisations agree that fewer centers for anorectal ma... more Background Pediatric surgeons and patient organisations agree that fewer centers for anorectal malformations with larger patient numbers are essential to reach better treatment. The European Union transacts a political process which aims to realize such centers of expertise for a multitude of rare diseases. All the centers on a specific rare disease should constitute an ERN on that disease. ARM-Net members in different countries report on first experiences with the implementation of national directives, identifying opportunities and risks of this process. Methods Relevant details from the official European legislation were analyzed. A survey among the pediatric surgeons of the multidisciplinary ARM-Net consortium about national implementation was conducted. Results European legislation calls for multidisciplinary centers treating children with rare diseases, and proposes a multitude of quality criteria. The member states are called to allocate sufficient funding and to execute robust governance and oversight, applying clear methods for evaluation. Participation of the patient organisations is mandatory. The national implementations all over Europe differ a lot in respect of extent and timeframe. Conclusions Establishing Centers of Expertise and a ERN for anorectal malformations offers great opportunities for patient care and research. Pediatric surgeons should be actively engaged in this process.
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