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1.
J Pediatr Urol ; 18(2): 186.e1-186.e4, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35184944

RESUMEN

INTRODUCTION: Posterior urethral valves (PUV) cause lower urinary tract obstruction leading to increased intravesical pressure during fetal urinary tract development. Though the bladder and kidneys are separate organs, with different embryological origins, they are complementary and influence each other both before and after birth. We aimed to assess the relationship between renal and bladder function in boys with PUV and whether early renal markers could predict future bladder function. PATIENTS AND METHODS: We included all boys with prenatally suspected lower urinary tract obstruction, born between 2000 and 2013, in two University Hospitals, with at least 5 years follow-up. We excluded patients who presented a Lower Urinary Tract Obstruction other than PUV, children who presented multiple birth defects and neonatal deaths and those with incomplete long-term renal or bladder function data. We included data on nadir creatinine (NC), long-term renal function and long-term bladder function (defined by Uroflow parameters). Boys with PUV were divided into three severity groups for renal function according to their NC and three severity groups for bladder function as determined by Uroflow. RESULTS: We included 73 boys. Average nadir creatinine was 43.4 ± 26.1 µmol/L. Twenty-nine boys (49.3%) presented a NC < 35 µmol/L, thirty-eight (52.1%) a NC between 35 and 75 µmol/L, and 6 (8.2%) a NC > 75 µmol/L. Thirty-eight (52.1%) presented normal bladder function, 23 (31.5%) presented moderately impaired bladder function and 12 (16.4%) presented severely impaired bladder function. 41.4% of boys with NC < 35 had abnormal bladder function vs 46.2% of those with an NC between 35 and 75 µmol/L and 83.3% of boys with NC > 75 µmol/L. Nadir creatinine both predicted both bladder function and renal status (table 1). Correlation between presence of grade 3-5 CKD and poor uroflow was also significant (p < 0.005). DISCUSSION: Nadir creatinine was significantly correlated to bladder function at 5 years of age. What this study suggests is that as nadir creatinine increases so does the risk of severe bladder dysfunction. Our results, though limited to flowmeter and renal function, could help pediatric urologist tailor bladder function monitoring, and indicate which patients could benefit from more aggressive bladder therapy. CONCLUSION: Bladder and renal function are linked in boys with posterior urethral valves. Boys with high nadir creatinine could benefit from early bladder function evaluation and management.


Asunto(s)
Enfermedades Uretrales , Obstrucción Uretral , Niño , Creatinina , Humanos , Recién Nacido , Masculino , Estudios Retrospectivos , Uretra/anomalías , Vejiga Urinaria
2.
Front Pediatr ; 10: 1014422, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36330367

RESUMEN

Introduction: Posterior urethral valves are urethral leaflets that cause Lower Urinary Tract Obstruction (LUTO) in boys and are associated with congenital renal dysplasia and abnormal bladder function. They affect 1:4,000 to 1:25,000 births and can be responsible for End-Stage Renal Failure in childhood. There have been several studies on the effect of pop-off mechanisms in boys with posterior urethral valves, but results are contradictory. We aimed to assess and discuss the effect of pop-off mechanisms on renal function in a large cohort of patients. Patients and method: Boys with PUV with and without pop-off mechanisms (urinoma, VURD or giant bladder diverticula) were divided into three severity groups for renal function according to their nadir creatinine (low-risk NC < 35 µmol/L, intermediate-risk NC between 35 and 75 µmol/L, and high-risk NC > 75 µmol/L). We compared children with and children without pop-off mechanisms for mean renal function as well as patient distribution within each severity group. Results: We included 137 boys of which 39 had a pop-off mechanism. Patients had complete data for at least 5 years follow-up. Though there was no significant statistical difference in mean renal function between the pop-off and non-pop-off group, patient distribution within each severity group varied according to whether patients had a pop-off mechanism or not. Conclusion: Though there was no significant difference in mean renal function between boys with and without pop-off mechanisms, it is possible that these are two different patient populations and direct comparison is not possible.

3.
Eur Urol ; 81(1): 64-72, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34563412

RESUMEN

BACKGROUND: Boys with posterior urethral valves (PUVs) have an increased risk of febrile urinary tract infections (fUTIs). Circumcision is believed to reduce the risk of fUTIs in boys, although there are no randomized trials demonstrating this. OBJECTIVE: To determine the effect of circumcision on the risk of fUTIs in boys with PUVs. DESIGN, SETTING, AND PARTICIPANTS: A clinical randomized trial that ran between August 2012 and July 2017 was conducted. The trial was multicentric, including 13 referral centers for pediatric urology. Male boys, aged 1-28 d, diagnosed with posterior urethral valves, confirmed by voiding cystogram, were included. The exclusion criteria included presence of a genital malformation contraindicating performing a circumcision. INTERVENTION: Participants were randomized to neonatal circumcision + antibiotic prophylaxis (CATB) or antibiotic prophylaxis alone (ATB), and followed for 2 yr. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: The primary outcome was a risk of presenting fUTIs in each group. An fUTI was defined as fever (>38.5 °C) with evidence of pyuria and culture-proven infection on urinalysis, obtained by urethral catheterization or suprapubic aspiration. A bivariate analysis of the primary outcome was performed using the Kaplan-Meier method. RESULTS AND LIMITATIONS: In total, 91 patients were included: 49 in group CATB and 42 in group ATB. The probability of presenting an fUTI was 20% in group ATB versus 3% in group CATB. The hazard ratio of presenting an fUTI within 2 yr in the ATB group compared with that in the CATB group was 10.3 (95% confidence interval: 1.3-82.5). Sixty-four children (70.3%) had a complete follow-up at 2 yr of age. CONCLUSIONS: Circumcision significantly decreases the risk of presenting an fUTI in boys with PUVs. PATIENT SUMMARY: In this report, we compared, in a multicentric trial, the number of febrile urinary tract infections (UTIs) in boys with posterior urethral valves who had either antibiotic prophylaxis alone or antibiotic prophylaxis and circumcision. We found that those who had a circumcision had a significantly lower risk of febrile UTIs.


Asunto(s)
Circuncisión Masculina , Infecciones Urinarias , Profilaxis Antibiótica , Niño , Circuncisión Masculina/efectos adversos , Femenino , Humanos , Recién Nacido , Masculino , Modelos de Riesgos Proporcionales , Cateterismo Urinario , Infecciones Urinarias/etiología , Infecciones Urinarias/prevención & control
4.
Ann Dermatol Venereol ; 138(10): 677-80, 2011 Oct.
Artículo en Francés | MEDLINE | ID: mdl-21978505

RESUMEN

BACKGROUND: Octreotide is a synthetic octapeptide having properties related to those of natural somatostatin, a hypothalamic hormone. We report a case of eruptive naevus in patients treated with octreotide. PATIENTS AND METHODS: A 52-year-old man consulted for multiple achromic naevi of recent onset. He was undergoing treatment with octreotide 30 mg per month for hepatic metastases in a setting of operated colonic carcinoid tumor. Since the start of this treatment, he had presented an efflorescence of diffuse naevus comprising over 200 lesions, certain of which were highly atypical. Annual follow-up was carried out. Ten years later, the patient was still alive and undergoing octreotide therapy at the same dose. The number of naevi had stabilized and there was no evidence of melanoma. DISCUSSION: Eruptions of naevi are rare; they may occur at the sites of lesions in bullous diseases or during immunodepression (malignant or drug induced, HIV infection). There are questions concerning possible stimulation of naevus cells and the risk of onset of melanoma. Routine monitoring of pigmented lesions is thus necessary in patients treated with octreotide.


Asunto(s)
Antineoplásicos Hormonales/efectos adversos , Neoplasias Primarias Secundarias/inducido químicamente , Nevo Pigmentado/inducido químicamente , Octreótido/efectos adversos , Neoplasias Cutáneas/inducido químicamente , Antineoplásicos Hormonales/uso terapéutico , Diagnóstico Diferencial , Humanos , Neoplasias Hepáticas/tratamiento farmacológico , Neoplasias Hepáticas/secundario , Masculino , Melanocitos/patología , Melanoma/diagnóstico , Melanoma/tratamiento farmacológico , Melanoma/secundario , Persona de Mediana Edad , Neoplasias Primarias Secundarias/diagnóstico , Neoplasias Primarias Secundarias/patología , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/patología , Octreótido/uso terapéutico , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/secundario
5.
Ann Dermatol Venereol ; 137(12): 803-7, 2010 Dec.
Artículo en Francés | MEDLINE | ID: mdl-21134584

RESUMEN

BACKGROUND: Jessner's lymphocytic infiltration of the skin (LIS) is a chronic, benign T-cell infiltrative disorder, usually manifesting as erythematous papules or plaques on the face, neck and back. PATIENTS AND METHODS: five patients presented LIS with numerous skin lesions on the face and back characteristic of this disease. Histological examination showed a lymphocytic infiltrate in the dermis without any modification of the epidermis. Direct immunofluorescent study was negative in all cases. Response to dermocorticoids proved inconsistent or negative in all patients. An excellent outcome was achieved in all five patients with pulsed dye laser. In one case, further skin lesions appeared at 1 year and responded to the same treatment. Following a single treatment session with 6-8 J/cm(2), three of five patients showed normal skin. Regression occurred in the other two cases after two to three sessions. Pulsed dye laser appeared to be the best treatment for Jessner-Kanof disease for three patients at 4-8 years of follow-up. DISCUSSION: only one case of Jessner-Kanof disease treated by pulsed dye laser has been reported. Pulsed dye laser has been used in cutaneous lupus and annular granuloma. Selective photothermolysis allows photocoagulation of dilated vessels. CONCLUSION: pulsed dye laser at 595nm could offer a valuable therapeutic alternative, and even a first-line treatment with no side effects.


Asunto(s)
Láseres de Colorantes/uso terapéutico , Linfocitosis/radioterapia , Enfermedades Cutáneas Papuloescamosas/diagnóstico , Enfermedades Cutáneas Papuloescamosas/radioterapia , Linfocitos T/patología , Adulto , Biopsia , Femenino , Humanos , Terapia por Luz de Baja Intensidad , Linfocitosis/diagnóstico , Linfocitosis/patología , Masculino , Microscopía Fluorescente , Persona de Mediana Edad , Recurrencia , Retratamiento , Piel/patología , Enfermedades Cutáneas Papuloescamosas/patología
6.
Acta Chir Belg ; 109(6): 775-7, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-20184067

RESUMEN

PURPOSE: Apple-peel atresia is a rare form of bowel atresia associating proximal jejunal atresia with a typical coil-shaped distal small bowel. Many of the children suffering from this condition are still managed with initial enterostomy followed by delayed anastomosis. PATIENTS AND METHOD: Between 2000 and 2007, we managed four patients with apple-peel atresia. Three by primary anastomosis and one by initial enterostomy with delayed anastomosis. RESULTS: Total duration of total parenteral nutrition (TPN) was an average 109 days. Survival rate was 100% with an average follow-up of 4.3 years. CONCLUSION: Nowadays, the prognosis of apple-peel atresia depends mainly on prolonged TPN-related morbidity rather than immediate postoperative complications. We therefore recommend that those infants affected be managed by primary anastomosis in order to reduce the duration of parenteral nutrition, followed by careful nutrition by teams experienced in neonatal TPN and short bowel syndrome.


Asunto(s)
Atresia Intestinal/cirugía , Procedimientos Quirúrgicos del Sistema Digestivo , Femenino , Humanos , Recién Nacido , Masculino , Nutrición Parenteral Total , Estudios Retrospectivos
7.
J Radiol ; 89(2): 245-9, 2008 Feb.
Artículo en Francés | MEDLINE | ID: mdl-18354355

RESUMEN

PURPOSE: To assess the value of a direct transoral approach to C2 for interventional procedures. MATERIALS AND METHODS: A transoral approach to C2 was used in 4 patients (9-64 year old) with lytic lesion of the C2 vertebra and/or base of the odontoid over a 10 year period. Three patients underwent biopsy and 1 patient underwent vertebroplasty using biplane fluoroscopy. All procedures were performed under general anesthesia using a 13G needle directly introduced in the C2 vertebra through the posterior pharyngeal wall. RESULTS: None of the patients reported ill-effects from the procedure. Needle placement was satisfactory in all patients, without technical difficulty. No technical complication was noted. Specifically, no infectious complication occurred. CONCLUSION: Our results indicate that a direct transoral approach to C2 is safe for biopsy or vertebroplasty.


Asunto(s)
Vértebra Cervical Axis/patología , Biopsia con Aguja/métodos , Fluoroscopía/métodos , Radiografía Intervencional/métodos , Adolescente , Adulto , Vértebra Cervical Axis/cirugía , Biopsia con Aguja/instrumentación , Carcinoma/secundario , Niño , Humanos , Masculino , Persona de Mediana Edad , Mieloma Múltiple/patología , Mieloma Múltiple/cirugía , Agujas , Apófisis Odontoides/patología , Apófisis Odontoides/cirugía , Osteítis/patología , Osteólisis/patología , Osteólisis/cirugía , Faringe/cirugía , Enfermedades de la Columna Vertebral/patología , Enfermedades de la Columna Vertebral/cirugía , Neoplasias de la Columna Vertebral/secundario , Tomografía Computarizada por Rayos X , Vertebroplastia/instrumentación , Vertebroplastia/métodos
8.
J Perinatol ; 38(2): 159-163, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-29120457

RESUMEN

OBJECTIVE: To describe conservative management of spontaneous intestinal perforation (SIP) in preterm infants using peritoneal needle aspiration (PNA). STUDY DESIGN: Monocentric retrospective review of SIP cases treated primarily by PNA between 1999 and 2015 (n=31). RESULTS: Mean gestational age was 29.2±2.4 weeks and birthweight 1149±428 g. SIP occurred at 3.7±2.2 days of life. PNA achieved definitive treatment in 18 patients (60%) with a mean of 1.8 (±0.8) procedures. All patients requiring more than three PNAs had secondary laparotomy. Two patients died and five presented severe cerebral lesions. Full enteral feeding was achieved 42±18 days after SIP. Intestinal morbidity included cholestasis (n=6), intestinal stricture (n=1) and growth restriction (n=22). On follow-up (n=25, median=4 years), no severe impairment was noted. Seventeen children (68%) had a normal development. CONCLUSION: PNA as primary therapy for SIP is a viable option, resulting in definitive treatment in 60% of cases, with limited mortality and morbidity.


Asunto(s)
Drenaje/métodos , Recien Nacido con Peso al Nacer Extremadamente Bajo , Enfermedades del Prematuro/terapia , Unidades de Cuidado Intensivo Neonatal , Perforación Intestinal/terapia , Peso al Nacer , Drenaje/efectos adversos , Nutrición Enteral/métodos , Femenino , Francia , Edad Gestacional , Humanos , Recien Nacido Extremadamente Prematuro , Recién Nacido , Enfermedades del Prematuro/mortalidad , Perforación Intestinal/mortalidad , Laparotomía/efectos adversos , Masculino , Agujas , Estudios Retrospectivos
9.
J Radiol ; 88(11 Pt 1): 1703-6, 2007 Nov.
Artículo en Francés | MEDLINE | ID: mdl-18065930

RESUMEN

The diagnosis of transverse spinal fractures in patients with ankylosing spondylitis and Forestier's disease (DISH) may be difficult. The MRI features of 9 such fractures at the disk, vertebral body, spinal canal and posterior elements are presented. Fractures of the posterior elements (posterior arch fractures and/or rupture of interspinous or supraspinous ligaments and contiguous soft tissue structures) were present in all cases, underscoring the importance of MR signal abnormalities of posterior structures for diagnosis of these fractures. MR is advantageous due to its ability to demonstrate signal abnormalities of the posterior elements, which combined with disk and vertebral body abnormalities, play a major role for accurate diagnosis of this type of fracture.


Asunto(s)
Vértebras Cervicales/lesiones , Hiperostosis Esquelética Difusa Idiopática/complicaciones , Vértebras Lumbares/lesiones , Imagen por Resonancia Magnética/métodos , Fracturas de la Columna Vertebral/diagnóstico , Fracturas de la Columna Vertebral/etiología , Espondilitis Anquilosante/complicaciones , Vértebras Torácicas/lesiones , Anciano , Anciano de 80 o más Años , Vértebras Cervicales/diagnóstico por imagen , Femenino , Humanos , Hiperostosis Esquelética Difusa Idiopática/diagnóstico por imagen , Vértebras Lumbares/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Radiografía Torácica , Estudios Retrospectivos , Fracturas de la Columna Vertebral/diagnóstico por imagen , Espondilitis Anquilosante/diagnóstico por imagen , Vértebras Torácicas/diagnóstico por imagen , Tomografía Computarizada por Rayos X
10.
Artículo en Inglés | MEDLINE | ID: mdl-29065545

RESUMEN

Computer-tailored programs may help to prevent overweight and obesity, which are worldwide public health problems. This study investigated (1) the 12-month effectiveness of a video- and text-based computer-tailored intervention on energy intake, physical activity, and body mass index (BMI), and (2) the role of educational level in intervention effects. A randomized controlled trial in The Netherlands was conducted, in which adults were allocated to a video-based condition, text-based condition, or control condition, with baseline, 6 months, and 12 months follow-up. Outcome variables were self-reported BMI, physical activity, and energy intake. Mixed-effects modelling was used to investigate intervention effects and potential interaction effects. Compared to the control group, the video intervention group was effective regarding energy intake after 6 months (least squares means (LSM) difference = -205.40, p = 0.00) and 12 months (LSM difference = -128.14, p = 0.03). Only video intervention resulted in lower average daily energy intake after one year (d = 0.12). Educational role and BMI did not seem to interact with this effect. No intervention effects on BMI and physical activity were found. The video computer-tailored intervention was effective on energy intake after one year. This effect was not dependent on educational levels or BMI categories, suggesting that video tailoring can be effective for a broad range of risk groups and may be preferred over text tailoring.


Asunto(s)
Medios de Comunicación , Promoción de la Salud/métodos , Obesidad/prevención & control , Adulto , Índice de Masa Corporal , Ingestión de Energía , Ejercicio Físico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Países Bajos
11.
Eur J Pediatr Surg ; 16(5): 369-72, 2006 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17160787

RESUMEN

It has been shown recently that Kasabach-Merritt phenomenon, the association of a vascular tumour and consumption coagulopathy, does not--as previously thought--complicate "classical" infantile hemangiomas but distinctive entities called kaposiform hemangioendothelioma (KHE) and tufted angioma (TA), both tumours on the same neoplastic spectrum. These tumours have been found in the neck, face, thorax, abdomen, retroperitoneum and limbs and are associated with a mortality rate of as high as 30 %. Several therapeutic modalities, including alpha-interferon, vincristine, radiotherapy and surgery have been reported in the literature. We report a case of retroperitoneal kaposiform hemangioendothelioma regression using alpha-interferon and discuss the current knowledge of this entity and its treatment.


Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Hemangioendotelioma/tratamiento farmacológico , Interferón-alfa/uso terapéutico , Inhibidores de la Angiogénesis/administración & dosificación , Coagulación Intravascular Diseminada/etiología , Hemangioendotelioma/complicaciones , Humanos , Lactante , Interferón-alfa/administración & dosificación , Masculino , Recuento de Plaquetas , Trombocitopenia/etiología
12.
Ann Dermatol Venereol ; 133(2): 161-4, 2006 Feb.
Artículo en Francés | MEDLINE | ID: mdl-16508602

RESUMEN

BACKGROUND: Ocular involvement in cicatricial pemphigoid often occurs from the onset. Certain forms are seen only in this condition. OBSERVATION: A 31-year-old woman presented highly inflammatory conjunctivitis for several months associated with bilateral symblepharons and superficial punctuate keratitis around the left eye refractory to treatment. The patient had a history of mouth ulcers and sores on the scalp. Examination showed scalp lesions with crusts. Histological examination of these lesions revealed dermal-epidermal cleavage. Direct immunofluorescence showed sub-membrane deposits. Anti-basal membrane antibodies were positive. Immunotransfer confirmed the presence of circulating antibodies. This condition was controlled following administration of three courses of cyclophosphamide as a bolus. However, the symblepharons persisted in both eyes. Improvement lasted 4 years. The patient again consulted for inflammatory conjunctivitis and superficial punctate keratitis resulting in invalidating loss of visual acuity, associated with hypereosinophilia. Cortisone eye drops alone resulted in no improvement. Treatment was initiated with topical tacrolimus (Protopic) 0.03% comprising once-daily application to the conjunctiva in the evening. This therapy was well tolerated, and 2 daily applications could be given, followed by a dosage of 0.1%. Improvement was rapid and spectacular, with frank amelioration of visual acuity and resolution of the patient's keratitis. Treatment was continued for 4 months and gradually reduced to the 0.03% dosage level, with increasingly wide intervals between applications. There has been no relapse within the 12 months following the end of treatment. DISCUSSION: Standard treatment of pharmacological cicatricial pemphigoid involves systemic immunosuppression since topical anti-inflammatories are ineffective. The mortality associated with this disease is due to iatrogenic complications. Tacrolimus exhibits extremely good penetration of the conjunctiva. Following administration at a concentration of 0.06% 3 times daily in 15 patients with inflammatory disease of the conjunctiva or the cornea, improvement was seen in 10 of these patients at 26 weeks. Tacrolimus appears to act through immunomodulatory and anti-inflammatory mechanisms. It induces local inhibition of T lymphocyte activation and reduces production of pro-inflammatory lymphokines. Oral tacrolimus cannot be used to control cicatricial pemphigoid refractory to standard immunomodulators. However, 3 three other cases involving topical treatment of cicatricial pemphigoid showed marked efficacy of treatment given for 2 to 6 months, with complete tolerability. Thus, topical tacrolimus appears to constitute an interesting alternative treatment in cicatricial pemphigoid.


Asunto(s)
Oftalmopatías/tratamiento farmacológico , Inmunosupresores/administración & dosificación , Penfigoide Ampolloso/tratamiento farmacológico , Tacrolimus/administración & dosificación , Administración Tópica , Adulto , Conjuntivitis/tratamiento farmacológico , Conjuntivitis/etiología , Ciclofosfamida/administración & dosificación , Oftalmopatías/etiología , Femenino , Humanos , Inyecciones Intravenosas , Queratitis/tratamiento farmacológico , Queratitis/etiología , Activación de Linfocitos , Penfigoide Ampolloso/complicaciones , Penfigoide Ampolloso/inmunología , Linfocitos T/inmunología , Factores de Tiempo , Adherencias Tisulares/etiología , Resultado del Tratamiento , Agudeza Visual
13.
Eur J Pediatr Surg ; 15(2): 95-101, 2005 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15877257

RESUMEN

UNLABELLED: This retrospective study aims to analyze the outcome, the prognosis factors and the long-term growth of children after extensive small bowel (SB) resection in the neonatal period. PATIENTS AND METHODS: 87 children, born between 1975 and 1991 who had undergone extensive neonatal small bowel resection, were followed up over a mean period of 15 years. Anatomical data influencing PN dependency and duration were analyzed. Data on height and weight were collected and compared using growth standards. Final heights were studied for patients who achieved their puberty and compared to predicted height based on Tanner's formula. Patients were analyzed according to PN weaning and growth: children still receiving PN (group A), patients weaned from initial PN but requiring PN once again or enteral feeding (group B), and children with permanent intestinal autonomy (group C). RESULTS: The overall survival is 89.7 %, depending on the date of birth. The duration of PN-dependency varies according to the intestinal length and the presence of the ileocaecal valve (ICV). All patients who remain PN dependent had less than 40 cm of small bowel and/or the absence of ICV. Patients in group B had a mean small bowel length of 35 +/- 19 cm, resection of the ICV in 50 % of cases, and a PN duration of 47.4 +/- 23.8 months. There was a significant decrease in height and weight gain within the 4 years after cessation of PN, requiring enteral or parenteral feeding. Patients in group C had a mean small bowel length of 57 +/- 19 cm, presence of ICV in 81 % of cases and a PN duration of 16.1 +/- 11.4 months. After PN weaning, they grow up normally with normal puberty and final height as predicted from genetic target height. CONCLUSION: PN duration is influenced by the length of residual SB and the absence of ICV. With good anatomic prognosis factors and short duration of initial PN, normal long-term growth may be predicted. Conversely, poor anatomical factors and protracted initial PN require careful monitoring of growth and may sometimes require nutritional support to be restarted. The last group, permanently dependent on PN, might be candidates for intestinal transplantation.


Asunto(s)
Desarrollo Infantil/fisiología , Procedimientos Quirúrgicos del Sistema Digestivo/efectos adversos , Intestino Delgado/cirugía , Apoyo Nutricional , Síndrome del Intestino Corto/terapia , Tamaño Corporal/fisiología , Nutrición Enteral , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Masculino , Nutrición Parenteral , Pronóstico , Estudios Retrospectivos , Síndrome del Intestino Corto/etiología , Análisis de Supervivencia , Resultado del Tratamiento
14.
J Gynecol Obstet Biol Reprod (Paris) ; 44(9): 848-54, 2015 Nov.
Artículo en Francés | MEDLINE | ID: mdl-25604153

RESUMEN

OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III. STUDY DESIGN: Population-based study using data from the French National Register for EA from 2008 to 2010. We compared children with prenatal versus post-natal diagnosis in regards to prenatal, maternal and neonatal characteristics. We define a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and mortality at 1 year. RESULTS: Four hundred and eight live births with EA type III were recorded with a prenatal diagnosis rate of 18.1%. Transfer after birth was lower in prenatal subset (32.4% versus 81.5%, P<0.001). Delay between birth and first intervention was not significantly different. Defect size (2cm vs 1.4cm, P<0.001), gastrostomy (21.6% versus 8.7%, P<0.001) and length in neonatal unit care were higher in prenatal subset (47.9 days versus 33.6 days, P<0.001). The composite variables were higher in prenatal diagnosis subset (38.7% vs 26.1%, P=0.044). CONCLUSION: Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity related to the EA type (longer gap). Even if it does not modify neonatal management and 1-year outcome, prenatal diagnosis allows antenatal parental counseling and avoids post-natal transfer.


Asunto(s)
Atresia Esofágica/diagnóstico , Atresia Esofágica/terapia , Diagnóstico Prenatal , Factores de Edad , Atresia Esofágica/clasificación , Femenino , Humanos , Recién Nacido , Embarazo , Estudios Prospectivos , Resultado del Tratamiento
15.
J Invest Dermatol ; 104(4): 497-9, 1995 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-7706765

RESUMEN

The cDNA for human ferrochelatase, the enzyme that is defective in the rare genetic disease erythropoietic protoporphyria (EPP), was tested for its ability to allow the expression of ferrochelatase in mammalian cells. The cDNA was ligated to the plasmid expression vectors pCD and pED6 and transfected into COS-1 and CHO-DUKX cells, respectively. In each case, ferrochelatase activity increased. The cDNA was also ligated into the retroviral vector pLXSN, and virus-packaging cells were produced. Supernatants from these cells were used to infect fibroblasts in vitro from a patient with EPP. We found that the infected cells containing the ferrochelatase cDNA had enzyme levels in the range of normal fibroblasts and that they did not accumulate protoporphyrin when grown in the presence of delta-aminolevulinic acid. We conclude that introducing the cDNA for normal ferrochelatase into fibroblasts from an EPP patient restores ferrochelatase enzyme activity to the normal range. These experiments suggest potential for genetic therapy in EPP.


Asunto(s)
Ferroquelatasa/biosíntesis , Porfiria Hepatoeritropoyética/enzimología , Animales , Células CHO , Células Cultivadas , Chlorocebus aethiops , Cricetinae , Ferroquelatasa/genética , Terapia Genética , Humanos , Porfiria Hepatoeritropoyética/terapia
16.
Am J Med Genet ; 76(5): 402-9, 1998 Apr 13.
Artículo en Inglés | MEDLINE | ID: mdl-9556299

RESUMEN

The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%), and/or deafness (62%). In addition, we comment on anomalies observed very frequently in neonates and infants with the CHARGE syndrome, including, minor facial anomalies, neonatal brain stem dysfunction with cranial nerve palsy, and, mostly, internal ear anomalies such as semicircular canal hypoplasia that were found in each patient that could be tested. We propose several criteria for poor survival including male gender, central nervous system and/or oesophageal malformations, and bilateral choanal atresia. No predictive factor regarding developmental prognosis could be identified in our series. A significantly higher mean paternal age at conception together with concordance in monozygotic twins and the existence of rare familial cases support the role of genetic factors such as de novo mutation of a dominant gene or subtle sub-microscopic chromosome rearrangement. Finally, the combination of malformations in CHARGE syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic developmental field defect involving the neural tube and the neural crests cells.


Asunto(s)
Anomalías Múltiples/diagnóstico , Sistema Nervioso Central/anomalías , Niño , Preescolar , Atresia de las Coanas/diagnóstico , Cóclea/anomalías , Coloboma/diagnóstico , Nervios Craneales/anomalías , Sordera/diagnóstico , Oído/anomalías , Cara/anomalías , Insuficiencia de Crecimiento/diagnóstico , Femenino , Genitales/anomalías , Cardiopatías Congénitas/diagnóstico , Humanos , Lactante , Recién Nacido , Masculino , Pronóstico , Síndrome , Vestíbulo del Laberinto/anomalías
17.
Pediatr Pulmonol ; 31(1): 67-75, 2001 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-11180677

RESUMEN

SUMMARY. Spontaneous pneumomediastinum (SPM) is rare in children, mainly affecting male adolescents. It is usually secondary to alveolar rupture in the pulmonary interstitium, followed by dissection of gas towards the hilum and mediastinum. Many pathological and physiological events can lead to alveolar rupture, but the most common cause in children is asthma. The clinical diagnosis is based on the symptom triad of chest pain, dyspnea, and subcutaneous emphysema, and is also based on Hamman's sign. The diagnosis is confirmed by chest radiography. The main differential diagnosis is esophageal perforation, which requires an esophagogram with contrast when there is the slightest doubt in the diagnosis. Spontaneous pneumomediastinum generally resolves spontaneously within a few days, meaning that ambulatory treatment is usually appropriate. Management consists of treating the underlying cause (if identified), rest, analgesics, and simple clinical monitoring. Predisposing factors should be identified and controlled to prevent recurrence. Cases of idiopathic SPM necessitate diagnostic pulmonary function tests after the acute episode, to establish whether the child has asthma.


Asunto(s)
Enfisema Mediastínico/diagnóstico , Adolescente , Atención Ambulatoria , Asma/complicaciones , Niño , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Enfisema Mediastínico/etiología , Enfisema Mediastínico/fisiopatología , Enfisema Mediastínico/prevención & control , Enfisema Mediastínico/terapia , Alveolos Pulmonares , Remisión Espontánea , Factores de Riesgo , Rotura Espontánea
18.
JPEN J Parenter Enteral Nutr ; 23(5 Suppl): S121-5, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-10483912

RESUMEN

From November 1994 to November 1998, 20 children (2.5 to 14 years) received a jejunoileal graft alone (SBTx; n = 10) or in combination with the liver (SBLTx; n = 10 and/or the right colon (5 SBTx). Indications were intractable diarrhea of infancy (n = 8), short bowel syndrome (n = 6), extensive Hirschsprung disease (n = 4), and chronic intestinal pseudoobstruction (n = 2). Immunosuppression included tacrolimus, methylprednisolone, and azathioprine. Current follow-up ranges from 6 to 54 months. Five patients died (3 SBTx) within the first 2 months. Acute liver rejection occurred in 5 patients during the first 2 months. Sixteen episodes of intestinal rejection during the first 3 months in 11 patients (8 in 4 SBTx) were successfully treated in all but 3 by increasing tacrolimus dose and/or a 3-day methyprednisolone bolus or required antilymphoglobulins in 3 cases. Surgical complications occurred 8 times after SBLTx and 3 after SBTx. Infectious complications were more frequent in SBLTx recipients. Reversible Epstein-Barr virus-related posttransplant lymphoproliferative disease occurred in 3 recipients. Five presented cytomegalovirus infection. The SB graft was removed in 5 recipients (3 chronic rejection). All patients were started with oral and/or enteral feeding from the 7th postoperative day by using either normal food or protein hydrolysate diet. Currently, 10 of 11 children (8 SBLTx) achieved digestive autonomy after 5 to 30 weeks. All recipients gained weight; however, growth velocity remained reduced during the first 6 months because of the steroid therapy. Overall graft and patient survival is higher after SBLTx. Intestinal transplantation is indicated for patients with permanent intestinal failure. However, because parenteral nutrition is generally well tolerated, even for long periods, each indication for transplantation must be weighed carefully in terms of risk and quality of life.


Asunto(s)
Diarrea Infantil/cirugía , Enfermedad de Hirschsprung/cirugía , Intestinos/trasplante , Síndrome del Intestino Corto/cirugía , Adolescente , Niño , Preescolar , Ciclosporina/uso terapéutico , Diarrea Infantil/tratamiento farmacológico , Femenino , Supervivencia de Injerto , Enfermedad de Hirschsprung/tratamiento farmacológico , Humanos , Lactante , Infecciones/tratamiento farmacológico , Infecciones/mortalidad , Trasplante de Hígado , Masculino , Paris , Complicaciones Posoperatorias/tratamiento farmacológico , Complicaciones Posoperatorias/mortalidad , Síndrome del Intestino Corto/tratamiento farmacológico , Tasa de Supervivencia
19.
Eur J Radiol ; 28(2): 147-9, 1998 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-9788019

RESUMEN

Intrapulmonary lymph nodes are rare lesions, usually appearing as small subpleural nodule (coin lesion), at or under the height of the carina. Computed tomography (CT) is very accurate in their detection. Three observations are reported.


Asunto(s)
Pulmón/diagnóstico por imagen , Ganglios Linfáticos/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Adulto , Femenino , Humanos , Ganglios Linfáticos/anomalías , Masculino , Persona de Mediana Edad
20.
Eur J Dermatol ; 11(5): 436-9, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11525951

RESUMEN

The term linear epidermal nevus (LVEN) refers to benign hyperplasia of the epidermis. Three types of LVEN can be distinguished: localized, systemic and inflammatory form. All have in common resistance to treatment and risk of recurrence. We report the observations of 5 patients with inflammatory linear verrucous epidermal nevus and 5 patients with linear verrucous epidermal nevus. Management by superpulsed CO2 laser was performed as follows: test treatment, completed by removal of the lesion in one or more sessions. Treatment was effective in all cases but 2. Satisfactory cosmetic results were obtained; slight hyperpigmentation, transitory desquamation and erythematous papules were observed. There was no recurrence in two years follow-up. We suppose that for the two patients with recurrence, our treatment failure is due to the lower laser parameters used in these patients compared to the others, because of their younger age.


Asunto(s)
Procedimientos Quirúrgicos Dermatologicos , Terapia por Láser , Enfermedades de la Piel/cirugía , Adolescente , Adulto , Dióxido de Carbono , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Hiperplasia , Masculino , Recurrencia , Piel/patología , Enfermedades de la Piel/patología , Resultado del Tratamiento
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