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BACKGROUND: Intestinal Failure, parenteral nutrition (PN) dependence, and subsequent liver disease are the most challenging and life-threatening complications of short bowel syndrome experienced by patients with total intestinal aganglionosis. Skipped Aganglionic Lengthening Transposition (SALT) showed to be a promising procedure to overcome such problems. We herein report the results of two patients who underwent SALT at the Umberto Bosio Center for Digestive Diseases. PATIENTS AND METHODS: Between November 2019 and July 2022, 2 patients with total intestinal aganglionosis underwent SALT as autologous intestinal lengthening procedure. Perioperative data and long-term outcomes are reported. Patient #1-A 18 month-old male (PN dependant) with 30 cm of ganglionated bowel at birth experienced a 35% increase of intestinal length after SALT (from 43 to 58 cm) thanks to three 5 cm interposed aganglionic loops. Postoperative course was uneventful and he was totally weaned by PN after 28 months postoperatively. He is without PN only receiving enteric feeding 53 months after the procedure. Patient #2-A 11 year-old female (PN dependant) with 100 cm of ganglionated jejunum underwent SALT at 11 years and experienced a 19% increase of bowel length thanks to four 5 to 7 cm interposed aganglionic loops. Postoperatively she required excision of two out of the four loops due to severe strictures and inadequate perfusion with a subsequent overall 10% increase of length after SALT. Of note, she improved significantly with a progressive reduction of PN that has been stopped after 18 months. CONCLUSION: Skipped aganglionic lengthening transposition (SALT) seems to be very effective in improving nutrients absorption in patients with total intestinal aganglionosis by increasing absorptive bowel surface and decelerating intestinal flow for a longer and more effective contact of enteric material with ileal mucosa. Provided these impressive results are confirmed in the very long-term, SALT could become a valid alternative for the treatment of patients with total intestinal aganglionosis carrying at birth at least 20 to 30 cm of ganglionated jejunum.
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Doença de Hirschsprung , Insuficiência Intestinal , Síndrome do Intestino Curto , Criança , Feminino , Humanos , Lactente , Masculino , Intestino Delgado , Intestinos/cirurgia , Síndrome do Intestino Curto/cirurgia , Resultado do TratamentoRESUMO
BACKGROUND: Continence issues due to organic causes including previous colorectal surgery or neurological issues might benefit from Transanal irrigation (TAI) that proved to be highly effective but with a number of limitations including a relatively high discontinuation rates. Our study was aimed at evaluating the efficacy of an advanced protocol tailored to each patient to prevent dropout and increase satisfaction, independence, and quality of life. MATERIALS AND METHODS: This was a prospective, interventional, multicenter, nonrandomized study involving children aged 4-18 years with bowel dysfunction unresponsive to conventional treatments who required TAI. TAI was performed in accordance to the best standards of care with a total irrigation volume that was determined based on low emission X-Ray barium enemas performed at the very beginning of the study. All patients underwent training and assessments of continence, patients' perspectives and quality of life were performed at different timepoints from enrollment (T0) up to 6 months since TAI was introduced (T3). RESULTS: A total of 78 patients were enrolled. Male to female ratio was 1.4:1. Mean age at enrollment was 106.1 ± 42.8 months. Discontinuation was reported by 3 patients (3.8 %). Continence, satisfaction and a number of other outcome measures increased from baseline (T0) to the last visit (T3). In particular, mean Rintala total score increased linearly from 7.8 to 14.8 during the study period (T0 to T3 timepoints). On a multivariate analysis, the only parameter that proved to be inversely associated with continence as well as with other outcome measures was the use of laxatives at enrollment and during the study. CONCLUSIONS: This study has demonstrated the high efficacy of this innovative patient-tailored TAI protocol across all assessed scores. Of note, given the negative impact of laxatives, our findings suggest limiting their use in this patient population to further increase the efficacy of the procedure.
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Canal Anal , Incontinência Fecal , Satisfação do Paciente , Qualidade de Vida , Irrigação Terapêutica , Humanos , Criança , Masculino , Feminino , Estudos Prospectivos , Pré-Escolar , Irrigação Terapêutica/métodos , Adolescente , Incontinência Fecal/terapia , Resultado do Tratamento , Educação de Pacientes como Assunto/métodosRESUMO
BACKGROUND: Inflammatory Bowel Diseases (IBD) are known to occur in association with Hirschsprung disease (HSCR). Most of cases are represented by Crohn Disease (CD) occurring in patients with Total Colonic Aganglionosis (TCSA) with an estimated prevalence of around 2%. Based on these considerations and on a number of provisional data belonging to our Center for Digestive Diseases, we developed a unicentric cross-sectional observational study aimed at describing phenotype, genotype, pathology and metagenomics of all patients with TCSA and Crohn-like lesions. RESULTS: Out of a series of 62 eligible TCSA patients, 48 fulfilled inclusion criteria and were enrolled in the study. Ten patients did not complete the study due to non-compliance or withdrawal of consent and were subsequently dropped out. A total of 38 patients completed the study. All patients were tested for chronic intestinal inflammation by a combination of fecal calprotectine (FC) or occult fecal blood (OFB) and underwent fecal metagenomics. Nineteen (50%) tested positive for FC, OFB, or both and subsequently underwent retrograde ileoscopy. Fourteen patients (36.8%) presented Crohn-like lesions, occurring after a median of 11.5 years after surgery (range 8 months - 21.5 years). No statistically significant differences regarding demographic, phenotype and genotype were observed comparing patients with and without lesions, except for need for blood transfusion that was more frequent in those with lesions. Faecal microbiome of patients with lesions (not that of caregivers) was less biodiverse and characterized by a reduction of Bacteroidetes, and an overabundance of Proteobacteria. FC tested negative in 3/14 patients with lesions (21%). CONCLUSIONS: Our study demonstrated an impressive 10-folds higher incidence of chronic inflammation in TCSA. Up to 50% of patients may develop IBD-like lesions postoperatively. Nonetheless, we failed in identifying specific risk factors to be used to implement prevention strategies. Based on the results of our study, we suggest screening all TCSA patients with retrograde ileoscopy regardless of FC/OFB values. The frequency of endoscopic assessments and the role of FC/OFB screening in prompting endoscopy is yet to be determined.
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Doença de Hirschsprung , Doenças Inflamatórias Intestinais , Humanos , Doença de Hirschsprung/genética , Doença de Hirschsprung/patologia , Estudos Transversais , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/patologia , InflamaçãoRESUMO
Background: cardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may be present, ranging from feeding difficulties to gastroesophageal reflux and constipation.In this report we describe a case of this syndrome characterized by severe feeding and growth difficulties, with a particular focus on the management of gastroenterological complications. Case presentation: the patient was a caucasian male affected by Cardio-Facio-Cutaneous syndrome who presented feeding difficulties already a few hours after birth. These symptoms worsened in the following months and lead to a complete growth arrest and malnutrition. He was first treated with a nasogastric tube placement. Subsequently, a laparoscopic Nissen fundoplication and a laparoscopic Stamm gastrostomy were performed. The child was fed with nocturnal enteral nutrition and diurnal oral and enteral nutrition. Eventually the patient resumed feeding validly and regained adequate growth. Conclusion: this paper aims to bring to light a complex rare syndrome that infrequently comes to the attention of the pediatricians and whose diagnosis is not always straightforward. We also highlight the possible complications under a gastroenterologic point of view. Our contribution can be helpful to the pediatrician in the first diagnostic suspect of this syndrome. In particular, it is worth highlighting that -in an infant with Noonan-like features- symptoms like suction or swallowing problems, vomiting and feeding difficulties should orient towards the diagnosis of a Cardio-facio-cutaneous syndrome. It is also important to stress that its related gastroenterological issues may lead to severe growth failure and therefore the role of the gastroenterologist is key to manage supplemental feeding and to establish whether a nasogastric or gastrostomic tube placement is necessary.
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INTRODUCTION: Endoscopic pilonidal sinus treatment (EPSiT) has been advocated promising excellent outcomes with low rates of complications and recurrences. In this study, we aimed at reporting long-term results of a unicentric series of pediatric patients who underwent EPSiT during a 5-year period. MATERIALS AND METHODS: We retrospectively reviewed patients who underwent EPSiT between January 2017 and December 2021. Patients under 18 years of age at first surgery were included. Details regarding demographic data, surgical procedure, and recurrences were recorded. Patients were also divided into short-term (follow-up of 12 months) and long-term (follow-up longer than 36 months) to compare results and detect all possible delayed recurrences. RESULTS: A total of 99 patients underwent 115 EPSiT procedures in a 5-year period. Median age was 16 years (8-19 years). Median length of surgery was 32 min (25 to 50 min). Eighty-three of these patients were assessed for short-term results and reported an 8% incidence of recurrences occurring after a mean of 6 months. Fifty-nine patients have been followed up for at least 36 months (long-term results) with a median follow-up of 49 months (36-61 months) and reported a 15% incidence of recurrences occurring after a mean of 19 months postoperatively. All patients who recurred required a redo EPSiT. Infections occurred in 5 (2 recurred) and bleeding in 1 (no recurrence). CONCLUSIONS: Recent reports underlined impressive results and an extremely low recurrence rate of EPSiT. Our retrospective study addressed the long-term results and seems not to support these expectations. Even so, EPSiT remains easy, straightforward, allows rapid recovery and is, therefore, to be considered as one of the most promising surgical techniques available for pilonidal disease. EPSiT is here to stay and to remain.
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Seio Pilonidal , Dermatopatias , Adolescente , Criança , Endoscopia/métodos , Humanos , Duração da Cirurgia , Seio Pilonidal/cirurgia , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Extended aganglionosis (TIA) is the presence of some viable aganglionic gut distal to the levelling jejunostomy. Different surgical procedures (including transplantation) have been proposed with inconclusive results. We conceived a new procedure named skipped aganglionic lengthening transposition (SALT) consisting of multiple pedicled isoperistaltic transpositions of aganglionic ileal loops interposed to normoganglionic jejunum. The innovative aspect consists of taking advantage of the propulsive effect of normoganglionated bowel to progress enteric content throughout interposed aganglionic loops down to the stoma. The procedure was adopted in a male patient who was born with 30 cm of normoganglionated jejunum. SALT was performed when the baby was 18 months. Three 5-cm pedicled isoperistaltic aganglionic loops of small bowel were interposed each 10 cm of normoganglionic jejunum with an overall 36% length gain (from 42 to 57 cm). Postoperative course was uneventful. 6 months postoperatively, an upper gastrointestinal series showed normal progression without dilatations. A laparoscopic gastrostomy was performed due to food aversion 6 months postoperatively, demonstrating impressive anatomic and functional postoperative results. The procedure provides promising and unique opportunity for patients with TIA with encouraging outlook for the near future.
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Doença de Hirschsprung/complicações , Doença de Hirschsprung/cirurgia , Síndrome do Intestino Curto/complicações , Síndrome do Intestino Curto/cirurgia , Estudos de Viabilidade , Humanos , Lactente , Intestino Delgado/cirurgia , Jejuno/cirurgia , Masculino , Resultado do TratamentoRESUMO
BACKGROUND: Ultrasound-guided (USG) cannulation of the brachiocephalic vein (BCV) is gaining worldwide consensus for central venous access in children. This study reports a 20-month experience with this approach in children. METHODS: All patients who underwent percutaneous USG central venous catheter (CVC) positioning in the BCV between August 2013 and March 2015 have been included. Devices inserted during this period were open-ended, either single or double-lumen tunneled CVC. Our series was divided into three consecutive study periods in order to determine the relative incidence of repositioning and complications. RESULTS: During the study period, a total of 95 patients underwent 109 CVC insertions in the BCV. The median length of CVC duration was 230 days for a total of 23,212 catheter days. No major intraoperative complications occurred. Overall rate of CVC-related postoperative complications requiring repositioning or precocious removal was 0.90 per 1,000 catheter days and involved 21 CVC (19%, 95% confidence interval 13-28). These included 18 dislodgments, two infections, and one malfunction. Double-lumen CVCs represented the only significant risk factor for complications (52% complications-three per 1,000 catheter days). CONCLUSION: USG supraclavicular cannulation of the BCV represents a safe approach for central line placement in children. It proved to be versatile, as it can be used in premature infants as well as in adolescents. Provided it is adopted by operators experienced in USG cannulation, we strongly suggest to resort to this approach as a first-line choice in children undergoing tunnelled central line placement for long-lasting therapy.
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Veias Braquiocefálicas/diagnóstico por imagem , Cateterismo Venoso Central/métodos , Neoplasias/cirurgia , Complicações Pós-Operatórias , Ultrassonografia de Intervenção/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Neoplasias/diagnóstico por imagem , Prognóstico , Estudos Prospectivos , Fatores de Risco , Fatores de Tempo , Adulto JovemRESUMO
BACKGROUND: Anal fistula is a common acquired anorectal disorder in children. Treatment methods that have been used are associated with inconsistent results and possible serious complications. In 2011 a minimally invasive approach, video-assisted anal fistula treatment (VAAFT) was described for adult patients. The aim of the present study was to assess the first series of pediatric patients treated with VAAFT. METHODS: All patients who underwent VAAFT between August 2013 and May 2015 were included. Demographics, clinical features, preoperative imaging, surgical details, outcome, and medium-term data were prospectively collected for each patient. RESULTS: Thirteen procedures were performed in nine patients. The male to female ratio was 8:1, and the median age was 9.6 years. Five fistulas were idiopathic, three iatrogenic, and one associated with Crohn's disease. Eight complete VAAFT procedures were performed. The remaining five procedures were either fistuloscopy and cutting seton placement or fistuloscopy and electrocoagulation, both without mucosal sleeve. The median length of surgery was 41 min. The median hospital stay was 24 h, and the median length of follow-up was 10 months. Resolution of the fistula was observed in all patients who underwent a complete VAAFT. In four out of five patients who underwent an incomplete procedure (without mucosal sleeve), the fistula recurred. No incontinence or soiling was reported in the medium term. CONCLUSIONS: VAAFT proved to be feasible and safe in children. It also proved to be versatile as it could be applied to fistulas of different etiologies. The key to success seems to be an adequate mucosal sleeve. Older children and adolescents benefit most from VAAFT which is a valid alternative to available surgical procedures.
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Fístula Retal/cirurgia , Cirurgia Vídeoassistida/métodos , Adolescente , Criança , Estudos de Viabilidade , Feminino , Humanos , Tempo de Internação , Masculino , Duração da Cirurgia , Estudos Prospectivos , Fístula Retal/etiologia , Recidiva , Resultado do TratamentoRESUMO
BACKGROUND: Our study aims at disclosing epidemiology and most relevant clinical features of esophageal atresia (EA) pointing to a model of multicentre collaboration. METHODS: A detailed questionnaire was sent to all Italian Units of pediatric surgery in order to collect data of patients born with EA between January and December 2012. The results were crosschecked by matching date and place of birth of the patients with those of diagnosis-related group provided by the Italian Ministry of Health (MOH). RESULTS: A total of 146 questionnaires were returned plus a further 32 patients reported in the MOH database. Basing on a total of 178 patients with EA born in Italy in 2012, the incidence of EA was calculated in 3.33 per 10,000 live births. Antenatal diagnosis was suspected in 29.5% patients. 55.5% showed associated anomalies. The most common type of EA was Gross type C (89%). Postoperative complications occurred in 37% of type C EA and 100% of type A EA. A 9.5% mortality rate was reported. CONCLUSIONS: This is the first Italian cross-sectional nationwide survey on EA. We can now develop shared guidelines and provide more reliable prognostic expectations for our patients.
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Atresia Esofágica/epidemiologia , Diagnóstico Pré-Natal , Inquéritos e Questionários , Fístula Traqueoesofágica/epidemiologia , Adulto , Estudos Transversais , Grupos Diagnósticos Relacionados , Atresia Esofágica/diagnóstico , Feminino , Humanos , Incidência , Recém-Nascido , Itália/epidemiologia , Masculino , Gravidez , Fístula Traqueoesofágica/diagnóstico , Adulto JovemRESUMO
BACKGROUND/PURPOSE: Aim of this study was to present a series of neonates and ex-preterm babies who underwent inguinal hernia repair focusing on complications and possible indication to perform routine contralateral groin exploration. METHODS: This is a retrospective study of a series of consecutive patients weighing less than 5 kg who underwent inguinal hernia repair between January 2007 and December 2012. Only the affected side was treated. Patients have been routinely followed up postoperatively. We resorted to available outpatients' charts and admission notes to record demographic data, surgical details, complications and the occurrence of metachronous hernias. A questionnaire was administered to all patients' relatives to confirm the long-term outcome. RESULTS: One hundred fifty-four patients were operated for a total of 184 herniotomies (88 right sided, 36 left sided and 30 bilateral). Median length of follow-up was 42 months (range 6 months-7.5 years). Thirteen patients (13/124 = 10.5 %) developed metachronous hernia that proved to be significantly more frequent in patients weighing less than 1,500 g at birth (p < 0.05). We observed 10 % of complications, including 2.7 % testicular atrophy and 4.5 % recurrence. Atrophy proved to occur more frequently in patients who experienced preoperative incarceration (p < 0.05). No other risk factors were identified. CONCLUSIONS: The results of our series demonstrated that, though technically demanding, herniotomy in the neonate and ex-preterm is associated with a relatively low incidence of complications. Based on our results and in accordance with literature data, we do not advocate routine contralateral exploration in case of unilateral hernia but surgery to be performed only on the symptomatic side, as soon as possible after initial diagnosis. Very low birth weight patients should be followed with care in the early postoperative period due to the higher likelihood of developing a metachronous hernia.
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Virilha/cirurgia , Hérnia Inguinal/cirurgia , Herniorrafia/métodos , Doenças do Prematuro/cirurgia , Recém-Nascido Prematuro , Feminino , Hérnia Inguinal/complicações , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Fatores de TempoRESUMO
AIM: The aim of this paper was to provide the main clinical features, surgical details, and long term outcome of patients with gastroschisis and omphalocele operated on at Giannina Gaslini Institute between 1976 and 2009. METHODS: All patients who were operated on between 1976 and 2009 for omphalocele or gastroschisis were included. Detailed informations regarding demographics, maternal history, type of delivery, associated anomalies, surgical details, complications, morbidity and mortality were collected. RESULTS: Sixty-one patients were included. Type of delivery did not interfere with outcome. Although patients with omphalocele had higher incidence of associated anomalies with their obvious impact on survival and quality of life, they showed a quicker recovery from surgery. Mortality rate was around 5%. Long-term outcome was available in 18 of them and proved to be satisfactory in all although almost 70% of them complained some gastrointestinal issues. CONCLUSION: Gastroschisis and Omphalocele showed improving survival and outcome during the last decades. Caesarean section proved not to confer advantages over vaginal delivery. Associated anomalies have the highest impact on survival being cardiac malformation the most significant risk factors. Although overall outcome is good in the majority of the patients, gastrointestinal and cosmetic issues seem to have a significant impact on quality of life and overall patients' perspectives.
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Parede Abdominal/cirurgia , Adolescente , Adulto , Feminino , Humanos , Masculino , Fatores de Tempo , Adulto JovemRESUMO
Bronchial carcinoid tumors are the most common primary pulmonary neoplasm in the pediatric population. The widely accepted treatment for carcinoid tumors is surgical, specifically aiming at being as much as conservative on lung parenchyma, while the entire tumor is resected. A brief case is described, highlighting the importance and advantages of a surgical and endoscopic combined approach.
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Neoplasias Brônquicas/cirurgia , Broncoscopia/métodos , Tumor Carcinoide/cirurgia , Pneumonectomia/métodos , Neoplasias Brônquicas/diagnóstico , Tumor Carcinoide/diagnóstico , Criança , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Período Intraoperatório , Tomografia por Emissão de Pósitrons , Tomografia Computadorizada por Raios XRESUMO
Chronic intestinal pseudo-obstruction (CIPO) can occur as a consequence of neuropathies including diffuse Intestinal Neuronal Dysplasia (IND), a relatively rare enteric nervous system (ENS) abnormality. Although various authors reported of diffuse IND associated either with intestinal malrotation or megacystis, the co-existence of these three entities in the same patient has never been described before. The aim of this paper is to report for the first time in literature a series of patient with such association, focusing on one who carries a de novo duplication of chromosome 12, suggesting a new syndromic association (megacolon, megacystis, malrotation).
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Anormalidades Múltiplas/genética , Sistema Nervoso Entérico/anormalidades , Doenças Fetais/diagnóstico , Trato Gastrointestinal/anormalidades , Megacolo/diagnóstico , Anormalidade Torcional/diagnóstico , Pré-Escolar , Duplicação Cromossômica , Cromossomos Humanos Par 12/genética , Hibridização Genômica Comparativa , Duodeno/anormalidades , Evolução Fatal , Feminino , Doenças Fetais/genética , Doenças Fetais/terapia , Trato Gastrointestinal/cirurgia , Humanos , Ileostomia , Megacolo/genética , Megacolo/cirurgia , Síndrome , Anormalidade Torcional/genética , Anormalidade Torcional/cirurgia , Bexiga Urinária/anormalidadesRESUMO
PURPOSE: Tunneled indwelling central venous catheters (CVC) are essential in the management of children with cancer, hematological, nephrological disorders and for parenteral nutrition. The aim of this study is to present the experience of a single center of the transition from traditional open surgical cut down procedure (OSC) to ultrasound (US)-guided percutaneous CVC insertion, focusing on learning curve and related complications. METHODS: All CVCs inserted between April 2008 and November 2009 in children at the Gaslini Children Hospital were revised, and data on methods of cannulation, intraoperative and device-related complications and re-intervention were recorded. RESULTS: 194 CVCs were positioned in 188 patients. 128 out of 194 CVCs were positioned through an OSC technique, whereas the remaining 66 CVCs were inserted percutaneously with US guidance. Of the 27 recorded complications, 15 were mechanical events, 7 cases developed infection, whereas the remaining 5 (2.6%) were classified as intraoperative complications. A second surgical procedure was described in 23 (11.8%) cases. CONCLUSION: Shifting from OSC to US-guided percutaneous CVC insertion inevitably involves a challenging learning curve which is generally associated with high complication rates. Complications progressively decrease once a good experience in US guidance and percutaneous technique has been obtained.
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Cateterismo Venoso Central/métodos , Cateteres de Demora , Competência Clínica , Ultrassonografia de Intervenção , Procedimentos Cirúrgicos Vasculares/educação , Procedimentos Cirúrgicos Vasculares/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Itália/epidemiologia , Masculino , Complicações Pós-Operatórias/epidemiologia , Resultado do TratamentoRESUMO
INTRODUCTION: The most invalidating and life-threatening complication in Hirschsprung's disease patients (HSCR) is Hirschsprung's disease-associated enterocolitis (HAEC). The mechanisms underlying enterocolitis have not been identified. The limited knowledge of the role of intestinal microflora is in part due to the complexity of the intestinal microbiome and to the limitation of cultivation-based technologies, given that less than 25% of the intestinal bacterial species can be cultured. MATERIALS AND METHODS: We used amplified ribosomal DNA restriction analysis (ARDRA) with four different restriction enzymes to study variations of microflora composition of the stools of a selected HSCR patient in different clinical conditions (acute phase vs. remission). RESULTS: We assessed a total of 15 stool specimens belonging to the same 3-year-old male patient suffering from HSCR, which were harvested during 4 HAEC episodes and remission phases. Restriction analysis showed that HAEC episodes seem to cluster together at ARDRA analysis, thus suggesting a sort of predisposing bacterial community for HAEC development and the need for a microflora equilibrium to maintain wellness. CONCLUSIONS: This approach proved to be effective, useful and powerful in assessing microflora dynamics and indicated that the differences in microflora associated with acute HAEC or remission are likely to result from a combination of disease activity and different antibiotic therapies. ARDRA proved to be useful in discriminating disease versus remission. Our findings indicated that HAEC results from a change in the equilibrium between bacterial species or from altered discrimination of harmless from harmful microorganisms, challenging the definition of pathogenic and non-pathogenic species. Based on these results, we propose ARDRA as a rapid inexpensive tool to assess microflora dynamics during HAEC episodes.
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Bactérias/classificação , Enterocolite/microbiologia , Doença de Hirschsprung/complicações , Alelos , Anti-Infecciosos/uso terapêutico , Bactérias/genética , Pré-Escolar , DNA/análise , Enterocolite/tratamento farmacológico , Enterocolite/genética , Fezes/microbiologia , Genômica , Doença de Hirschsprung/genética , Humanos , Masculino , Projetos Piloto , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , Proteínas Proto-Oncogênicas c-ret/genéticaRESUMO
SPRY2 is an inducible inhibitor of signalling mediated by tyrosine kinases receptors, whose targeting causes intestinal hyperganglionosis in mice. In this light, we have undertaken a mutational analysis of the SPRY2 gene in patients affected with intestinal neuronal dysplasia (IND), without detecting nucleotide changes in any of the 26 DNA samples analysed, with the exception of two already known polymorphic variants. A role of the SPRY2 gene in IND pathogenesis can be thus excluded.
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Variação Genética/genética , Enteropatias/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Análise Mutacional de DNA , Frequência do Gene/genética , Humanos , Enteropatias/patologia , Enteropatias/fisiopatologia , Proteínas de Membrana , Receptores Proteína Tirosina Quinases/genética , Transdução de Sinais/genéticaRESUMO
Osteopenia, an important complication of diabetes mellitus, is responsible of an increase in bone fracture and of a delay in fracture healing. The pathogenesis of this complication is unclear, however decreased availability and synthesis of nitric oxide (NO) may be regarded as a possible cause of disregulation of bone turnover. The aim of our study was to evaluate the effect of streptozotocin (STZ)-induced diabetes in the rat on bone mineral density (BMD) and bone turnover. We also examined whether supplementation of L-arginine (which acts as a NO substrate) could be beneficial for bone. After 6 weeks of STZ treatment, diabetic rats showed a significant decrease of BMD in the whole body, at the spine, at the pelvis, and at the femur. Bone turnover evaluation revealed a significant decrease in the serum levels of osteocalcin (a marker of bone formation), and an increase of the serum levels of the C-terminal telopeptide of type I collagen (RatLaps; a marker of bone resorption). L-arginine supplementation prevented the diabetes-induced reduction of BMD and osteocalcin, and the increase of RatLaps. These pharmacological actions of L-arginine produce a new suggestion that increase of NO synthesis and availability is potentially useful for effective prevention and treatment of osteopenia associated with diabetes.
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Arginina/administração & dosagem , Doenças Ósseas Metabólicas/metabolismo , Doenças Ósseas Metabólicas/prevenção & controle , Remodelação Óssea/efeitos dos fármacos , Diabetes Mellitus Experimental/metabolismo , Diabetes Mellitus Tipo 1/metabolismo , Doadores de Óxido Nítrico/administração & dosagem , Fosfatase Alcalina/sangue , Animais , Densidade Óssea/fisiologia , Doenças Ósseas Metabólicas/sangue , Doenças Ósseas Metabólicas/patologia , Cálcio/sangue , Colágeno Tipo I/sangue , Creatinina/sangue , Diabetes Mellitus Experimental/sangue , Diabetes Mellitus Experimental/patologia , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/patologia , Masculino , Osteocalcina/sangue , Peptídeos/sangue , Ratos , Ratos Sprague-Dawley , Estatísticas não ParamétricasRESUMO
Pai syndrome is a rare form of frontonasal dysplasia, first described in 1987. It is a triad consisting of midline cleft of the upper lip, facial skin polyps and central nervous system lipomas. Only 14 cases have been reported in the literature. The authors describe the clinical features, diagnostic workup and treatment of two patients. A review of all cases reported in literature is presented to show the phenotypic variability of this rare syndrome.
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Anormalidades Múltiplas/cirurgia , Doenças do Desenvolvimento Ósseo/cirurgia , Fenda Labial/cirurgia , Cartilagens Nasais/anormalidades , Pólipos Nasais/cirurgia , Septo Nasal/anormalidades , Doenças do Desenvolvimento Ósseo/complicações , Pré-Escolar , Fenda Labial/complicações , Feminino , Humanos , Lactente , Recém-Nascido , Freio Labial/anormalidades , Freio Labial/cirurgia , Cartilagens Nasais/cirurgia , Pólipos Nasais/complicações , Septo Nasal/cirurgia , Nariz/anormalidades , Nariz/cirurgia , Síndrome , Resultado do TratamentoRESUMO
PURPOSE: This study was undertaken to identify the radiographic and computed tomography patterns allowing a diagnosis of bronchogenic cyst. MATERIALS AND METHODS: We retrospectively reviewed chest radiographs and CT scans of 21 adults (ten men and 11 women, age range 18-74 years) with a histologically confirmed diagnosis of bronchogenic cyst. RESULTS: Sixteen cysts were located in the mediastinum and five in the lungs. On chest radiography, mediastinal cysts appeared as sharply marginated rounded areas of increased opacity; intrapulmonary cysts also exhibited an air-fluid interface. CT confirmed these morphological features in all cases. In addition, analysis of attenuation values allowed the subdivision of mediastinal cysts into three groups: fluid density (four cases), air density (two cases) and soft-tissue density (ten cases). CONCLUSIONS: All bronchogenic cysts were visualised on chest radiography, but the findings were nonspecific and required further characterisation by CT. The CT findings proved to be diagnostic when cystic attenuation values were evident. When soft-tissue attenuation values were demonstrated, a confident diagnosis was not possible, and other solid lesions had to be considered. In such cases, magnetic resonance imaging may be helpful to ascertain the cystic nature of the lesions.
Assuntos
Cisto Broncogênico/diagnóstico por imagem , Cisto Broncogênico/patologia , Tomografia Computadorizada por Raios X , Adolescente , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: The necessity of carrying out pre- or intra-operative imaging of the biliary tree to rule out a possible anatomical abnormality or the presence of common bile duct (CBD) stones in patients undergoing laparoscopic cholecystectomy (LC) is debated. We prospectively assessed the risk of developing symptoms related to bile duct injury or CBD stones after LC in children not receiving peri-operative cholangiography. MATERIALS AND METHODS: All patients Assuntos
Colangiografia
, Colecistectomia Laparoscópica
, Procedimentos Cirúrgicos Eletivos/métodos
, Cálculos Biliares/diagnóstico por imagem
, Cálculos Biliares/cirurgia
, Cuidados Pré-Operatórios/métodos
, Adolescente
, Criança
, Pré-Escolar
, Diagnóstico Diferencial
, Feminino
, Seguimentos
, Humanos
, Masculino
, Estudos Prospectivos
, Reprodutibilidade dos Testes
, Fatores de Tempo
, Resultado do Tratamento