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AIM: The aim of the study is to investigate the effectiveness of Peristeen retrograde continence enema (RCE) in the management of faecal incontinence in children with spina bifida. METHODS: We identified a homogenous group of spina bifida patients in whom RCE was initiated (Jan 2006-July 2013). Confidential assessments included (i) Fecal Incontinence Quality Of Life (FIQOL), (ii) St Marks Faecal Incontinence score, (iii) Cleveland Clinic Constipation score and (iv) Neurogenic Bowel Dysfunction score. RESULTS: Of 20 patients, 11 (mean age 14.5 ± 5.3 years) were male. Of 20 patients, nine were still using RCE (mean follow-up 4.1 years). Three patients ceased RCE within 10 days, six after 4-12 months and two after 36-48 months. Reasons for cessation included balloon difficulties (n = 4), procedure deemed too difficult (n = 4) and pain (n = 3). There were no differences between the groups in length of training time for technique, instillate fluid/volume used and time taken to perform RCE. There were no differences between the groups for quality of life, faecal incontinence or constipation scores. CONCLUSIONS: We demonstrated a high rate of cessation with RCE in patients with spina bifida. This could not be explained by associated conditions, or by enema-related parameters. One possible explanation is the lack of ongoing outpatient support for the children and their families.
Assuntos
Incontinência Fecal/etiologia , Disrafismo Espinal/complicações , Adolescente , Incontinência Fecal/terapia , Feminino , Humanos , Entrevistas como Assunto , Masculino , Avaliação de Resultados em Cuidados de Saúde , Pesquisa Qualitativa , Qualidade de Vida , Adulto JovemRESUMO
BACKGROUND/PURPOSE: Long-term problems with faecal incontinence occur in up to 50 % of patients after pull-through for Hirschsprung disease (HSCR). The cause often remains unknown, leading to empirical treatments. Using nuclear transit study, we found some patients surprisingly had rapid proximal colonic transit, suspicious of occult diarrhoea. We aimed to assess whether these patients had unrecognized adverse reactions to food. METHODS: Patients (n = 10, all males, 9.6 year; 4.25-15.5 years) with persistent faecal incontinence following pull-through for HSCR referred to the senior author and after exclusion of anatomical defects, underwent nuclear transit studies. Most (8) subsequently underwent breath hydrogen tests for sugar malabsorption and were tested for adverse reactions to food. Exclusion diets for protein allergens, lactose or fructose were then trialed. RESULTS: Of the 10 patients with rapid intestinal transit proven on nuclear transit study, breath hydrogen tests for fructose and/or lactose malabsorption were done in 8, and were positive in 7/8 patients. Exclusion diets contributed to either resolution or improvement in faecal incontinence in 9/10 patients. CONCLUSIONS: Rapid transit in the proximal, ganglionated colon may be present in children with faecal incontinence following pull-through for HSCR, possibly secondary to adverse reactions to food. This study suggests that children with post-operative soiling may benefit from a transit study and hydrogen breath tests to diagnose adverse reactions to food caused by sugar malabsorption.
Assuntos
Incontinência Fecal/fisiopatologia , Hipersensibilidade Alimentar/fisiopatologia , Trânsito Gastrointestinal/fisiologia , Doença de Hirschsprung/cirurgia , Síndromes de Malabsorção/fisiopatologia , Adolescente , Testes Respiratórios , Criança , Pré-Escolar , Frutose/metabolismo , Humanos , Hidrogênio/análise , Lactose/metabolismo , Masculino , Complicações Pós-OperatóriasRESUMO
AIM: As transcutaneous electrical stimulation (TES) increased defecation in children and adults with Slow-Transit Constipation (STC), we performed a pilot study to test if TES can improve symptoms (defecation and soiling) in children with chronic constipation without STC and transit delay in the anorectum. METHODS: Children with treatment-resistant constipation presenting to a tertiary hospital had gastrointestinal nuclear transit study (NTS) showing normal proximal colonic transit and anorectal holdup of tracer. TES was administered at home (1 hour/day for 3 months) using a battery-powered interferential stimulator, with four adhesive electrodes (4 × 4 cm) connected so currents cross within the lower abdomen at the level of S2-S4. Stimulation was added to existing laxatives. Daily continence diary, and quality-of-life questionnaires (PedsQL4.0) were compared before and after TES. RESULTS: Ten children (4 females: 5-10 years, mean 8 years) had holdup in the anorectum by NTS. Nine had <3 bowel motions (BM)/week. After three months TES, defecation frequency increased in 9/10 (mean 0.9-4.1 BM/week, p = 0.004), with 6/9 improved to ≥3 BM/week. Soiling reduced in 9/10 from 5.9 to 1.9 days/week with soiling, p = 0.004. Ten were on laxatives, and nine reduced/stopped laxative use. Quality-of-life improved to within the normal range. CONCLUSION: TES improved symptoms of constipation in >50% of children with treatment-resistant constipation with isolated holdup in the anorectum. Further studies (RCTs) are warranted in these children.
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Constipação Intestinal/terapia , Estimulação Elétrica Nervosa Transcutânea/métodos , Criança , Pré-Escolar , Constipação Intestinal/psicologia , Feminino , Serviços de Assistência Domiciliar , Humanos , Masculino , Avaliação de Resultados em Cuidados de Saúde , Projetos Piloto , Qualidade de VidaRESUMO
Slow-transit constipation (STC) is a newly described subtype of intractable constipation in children which we originally identified with deficiency of substance P in axons supplying the proximal colonic muscle. When nuclear transit studies became available, the patients were found to have slow proximal colonic transit, and responded to antegrade enemas. Using the appendicostomy, we found that there was reduced frequency in propagating sequences throughout the colon. We began testing whether transcutaneous electrical stimulation (TES) could improve motility and symptoms, and over several trials have now shown that TES is remarkably effective in treating children with STC, with long-lasting effects. TES holds promise for treating STC, as well as a range of gastrointestinal motility disorders.
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Constipação Intestinal/terapia , Terapia por Estimulação Elétrica/métodos , Trânsito Gastrointestinal/fisiologia , Criança , Constipação Intestinal/fisiopatologia , HumanosRESUMO
The neural crest is the name given to the strip of cells at the junction between neural and epidermal ectoderm in neurula-stage vertebrate embryos, which is later brought to the dorsal neural tube as the neural folds elevate. The neural crest is a heterogeneous and multipotent progenitor cell population whose cells undergo EMT then extensively and accurately migrate throughout the embryo. Neural crest cells contribute to nearly every organ system in the body, with derivatives of neuronal, glial, neuroendocrine, pigment, and also mesodermal lineages. This breadth of developmental capacity has led to the neural crest being termed the fourth germ layer. The neural crest has occupied a prominent place in developmental biology, due to its exaggerated migratory morphogenesis and its remarkably wide developmental potential. As such, neural crest cells have become an attractive model for developmental biologists for studying these processes. Problems in neural crest development cause a number of human syndromes and birth defects known collectively as neurocristopathies; these include Treacher Collins syndrome, Hirschsprung disease, and 22q11.2 deletion syndromes. Tumors in the neural crest lineage are also of clinical importance, including the aggressive melanoma and neuroblastoma types. These clinical aspects have drawn attention to the selection or creation of neural crest progenitor cells, particularly of human origin, for studying pathologies of the neural crest at the cellular level, and also for possible cell therapeutics. The versatility of the neural crest lends itself to interlinked research, spanning basic developmental biology, birth defect research, oncology, and stem/progenitor cell biology and therapy.
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Crista Neural/citologia , Crista Neural/embriologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/terapia , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/terapia , Animais , Diferenciação Celular/fisiologia , Movimento Celular/fisiologia , Deleção Cromossômica , Cromossomos Humanos Par 22 , Biologia do Desenvolvimento , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/terapia , Modelos Animais de Doenças , Doença de Hirschsprung/diagnóstico , Doença de Hirschsprung/terapia , Humanos , Disostose Mandibulofacial/diagnóstico , Disostose Mandibulofacial/terapia , Melanócitos/citologia , Melanoma/diagnóstico , Melanoma/terapia , Morfogênese/fisiologia , Crista Neural/patologia , Neuroblastoma/diagnóstico , Neuroblastoma/terapia , Células-Tronco/citologiaRESUMO
BACKGROUND & AIMS: Hirschsprung disease (HSCR) is caused by failure of cells derived from the neural crest (NC) to colonize the distal bowel in early embryogenesis, resulting in absence of the enteric nervous system (ENS) and failure of intestinal transit postnatally. Treatment is by distal bowel resection, but neural cell replacement may be an alternative. We tested whether aneuronal (aganglionic) colon tissue from patients may be colonized by autologous ENS-derived cells. METHODS: Cells were obtained and cryopreserved from 31 HSCR patients from the proximal resection margin of colon, and ENS cells were isolated using flow cytometry for the NC marker p75 (nine patients). Aneuronal colon tissue was obtained from the distal resection margin (23 patients). ENS cells were assessed for NC markers immunohistologically and by quantitative reverse-transcription polymerase chain reaction, and mitosis was detected by ethynyl-2'-deoxyuridine labeling. The ability of human HSCR postnatal ENS-derived cells to colonize the embryonic intestine was demonstrated by organ coculture with avian embryo gut, and the ability of human postnatal HSCR aneuronal colon muscle to support ENS formation was tested by organ coculture with embryonic mouse ENS cells. Finally, the ability of HSCR patient ENS cells to colonize autologous aneuronal colon muscle tissue was assessed. RESULTS: ENS-derived p75-sorted cells from patients expressed multiple NC progenitor and differentiation markers and proliferated in culture under conditions simulating Wnt signaling. In organ culture, patient ENS cells migrated appropriately in aneural quail embryo gut, and mouse embryo ENS cells rapidly spread, differentiated, and extended axons in patient aneuronal colon muscle tissue. Postnatal ENS cells derived from HSCR patients colonized autologous aneuronal colon tissue in cocultures, proliferating and differentiating as neurons and glia. CONCLUSIONS: NC-lineage cells can be obtained from HSCR patient colon and can form ENS-like structures in aneuronal colonic muscle from the same patient.
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We report the case of a 38-week gestational age neonate, with isolated congenital diaphragmatic hernia presenting with refractory persistent pulmonary hypertension, systemic hypotension, and hypoxemia, resistant to usual therapeutics. Arginine vasopressin is responsible for systemic vasoconstriction and decreases pulmonary hypertension. We theorized that terlipressin, its long-acting analogue, could have the same properties. We used terlipressin as rescue therapy after parental and local ethics committee acceptance. After a bolus of terlipressin 20 µg/kg and continuous infusion at a rate of 5 µg/kg per hour, blood oxygen saturation improved from 75% to 98%, oxygen requirements fell from fraction of inspired oxygen 100% to 40%, and mean arterial pressure rose from 28 to 46 mm Hg, allowing a decrease of vasopressor infusion. Terlipressin may be useful in the management of neonates with congenital diaphragmatic hernia and refractory pulmonary hypertension.
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Anti-Hipertensivos/uso terapêutico , Hipertensão Pulmonar/tratamento farmacológico , Anti-Hipertensivos/administração & dosagem , Causas de Morte , Preparações de Ação Retardada , Resistência a Medicamentos , Evolução Fatal , Hérnia Diafragmática/complicações , Hérnias Diafragmáticas Congênitas , Humanos , Hipertensão Pulmonar/complicações , Recém-Nascido , Infusões Intravenosas , Unidades de Terapia Intensiva Neonatal , Masculino , Choque Séptico/mortalidade , Resultado do Tratamento , Vasoconstritores/administração & dosagem , Vasoconstritores/uso terapêuticoRESUMO
OBJECTIVES: We evaluated functional outcome of kidneys with fetal urinoma associated to ureteropelvic junction obstruction. METHODS: We retrospectively reviewed 5 cases of antenatally diagnosed urinoma associated to hydronephrosis. Prenatal imaging work-up consisted of ultrasound (US) and magnetic resonance (MR) examination. Differential renal function was assessed postnatally with renal scintigraphy. RESULTS: Four male fetuses and 1 female fetuse presented with urinoma with hydronephrosis diagnosed by US at 24-25 weeks gestational age and confirmed by MRI examination at 28-29 weeks gestational age. On postnatal US, urinoma had disappeared in 4 cases. Parenchyma of the affected kidney was poorly differentiated in all cases. Ureteropelvic junction obstruction was confirmed in the 5 cases. Renal scintigraphy revealed poor functioning kidney (1%) in 2 cases, no function in 1 case, and impaired function in 2 cases (17%). CONCLUSIONS: Association of upper urinary tract dilatation caused by ureteropelvic junction obstruction and prenatally diagnosed urinoma may suggest a poor ipsilateral functioning kidney.