Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 34
Filter
2.
Int Arch Allergy Immunol ; 185(6): 527-535, 2024.
Article in English | MEDLINE | ID: mdl-38447548

ABSTRACT

INTRODUCTION: Given the lack of data, we aimed to explore which therapeutic endpoints pediatric patients with eosinophilic esophagitis (EoE) and their parents consider to be relevant. METHODS: We created an educational brochure on EoE and a questionnaire, both of which were content-validated by pediatric patients and parents. Validated documents were sent to 112 patients and parents. They ranked the importance (5 levels) of short (during next 3 months) and long-term (≥1 year) treatment effect on symptoms, quality of life, endoscopic inflammation, stricture formation, histological inflammation, and fibrosis. RESULTS: A total of 45 parents and 30 pediatric patients ≥11 years completed the questionnaires. Pediatric patients identified improvement in the following domains as most important in the short- and long-term, respectively: symptoms (73% vs. 77%), QoL (53% vs. 57%), histologic inflammation (47% vs. 50%), histologic fibrosis (40% vs. 33%), endoscopic inflammation (47% vs. 40%), and strictures (33% vs. 40%). Parents of children ≥11 years old classified improvement in the following domains as most important in the short- and long-term, respectively: symptoms (70% vs. 83%), QoL (63% vs. 80%), histologic inflammation (67% vs. 77%), histologic fibrosis (47% vs. 63%), endoscopic inflammation (77% vs. 80%), and strictures (40% vs. 53%). Agreement between caregiver and children on the short-term importance of treatment outcomes was as follows: symptoms (77%), QoL (40%), histologic inflammation and fibrosis (47% and 43%), endoscopic inflammation and strictures (50% and 40%). CONCLUSION: Pediatric patients and parents attributed most importance to improvement in symptoms and QoL. Agreement between parents and patients regarding therapy goals is limited.


Subject(s)
Eosinophilic Esophagitis , Parents , Quality of Life , Humans , Eosinophilic Esophagitis/therapy , Eosinophilic Esophagitis/diagnosis , Parents/psychology , Child , Surveys and Questionnaires , Male , Female , Treatment Outcome , Adolescent , Child, Preschool
3.
Neurochirurgie ; 69(4): 101458, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37301131

ABSTRACT

PURPOSE: The most frequent postoperative complication in autologous cranioplasty (AC) is infection. European recommendations include osseous sampling before cryogenic storage of a bone flap. We evaluated the clinical impact of this sampling. METHODS: All patients who underwent decompressive craniectomy (DC) and AC in our center between November 2010 and September 2021 were reviewed. The main outcome was the rate of reoperation for infection of the cranioplasty. We evaluated risk factors for bone flap infection, rate of reoperation for any reason (hematoma, skin erosion, cosmetic request, or bone resorption), and radiological evidence of bone flap resorption. RESULTS: A total of 195 patients with a median age of 50 (interquartile range: 38.0-57.0) years underwent DC and AC between 2010 and 2021. Of the 195 bone flaps, 54 (27.7%) had a positive culture, including 48 (88.9%) with Cutibacterium acnes. Of the 14 patients who underwent reoperation for bone flap re-removal for infection, 5 and 9 had positive and negative bacteriological cultures, respectively. Of patients who did not have bone flap infection, 49 and 132 had positive and negative bacteriological cultures, respectively. There were no significant differences between patients with and without positive bacteriological culture of bone flaps in the rates of late bone necrosis and reoperation for bone flap infection. CONCLUSIONS: A positive culture of intraoperative osseous sampling during DC is not associated with a higher risk of re-intervention after AC.


Subject(s)
Decompressive Craniectomy , Surgical Wound Infection , Humans , Adult , Middle Aged , Surgical Wound Infection/diagnosis , Surgical Wound Infection/surgery , Surgical Wound Infection/etiology , Decompressive Craniectomy/adverse effects , Retrospective Studies , Skull/surgery , Surgical Flaps/adverse effects , Surgical Flaps/surgery , Postoperative Complications/diagnosis , Postoperative Complications/surgery , Postoperative Complications/etiology
4.
Surg Radiol Anat ; 45(8): 933-937, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37318563

ABSTRACT

PURPOSE: Dilatation of the trigeminal cavum, or Meckel's cave (MC), is usually considered a radiological sign of idiopathic intracranial hypertension. However, the normal size of the trigeminal cavum is poorly characterized. In this study, we describe the anatomy of this meningeal structure. METHODS: We dissected 18 MCs and measured the length and width of the arachnoid web and its extension along the trigeminal nerve. RESULTS: Arachnoid cysts were clearly attached to the ophthalmic (V1) and maxillary (V2) branches until they entered the cavernous sinus and foramen rotundum, respectively, without extension to the skull base. Arachnoid cysts were close to the mandibular branch toward the foramen ovale, with a median anteromedial extension of 2.5 [2.0-3.0] mm, lateral extension of 4.5 [3.0-6.0] mm, and posterior extension of 4.0 [3.2-6.0] mm. The trigeminal cavum arachnoid had a total width of 20.0 [17.5-25.0] mm and length of 24.5 [22.5-29.0] mm. CONCLUSION: Our anatomical study revealed variable arachnoid extension, which may explain the variability in size of the trigeminal cavum in images and calls into question the value of this structure as a sign of idiopathic intracranial hypertension. The arachnoid web extends beyond the limits described previously, reaching almost double the radiological size of the cavum, particularly at the level of V3 afference of the trigeminal nerve. It is possible that strong adhesion of the arachnoid to the nerve elements prevents the formation of a true subarachnoid space that can be visualized by magnetic resonance imaging.


Subject(s)
Arachnoid Cysts , Pseudotumor Cerebri , Humans , Pseudotumor Cerebri/pathology , Arachnoid Cysts/pathology , Trigeminal Nerve/anatomy & histology , Skull Base , Radiography
5.
Clin Neurol Neurosurg ; 229: 107727, 2023 06.
Article in English | MEDLINE | ID: mdl-37119654

ABSTRACT

OBJECTIVE: Most brain biopsies are performed using the frame-based stereotactic technique and several studies describe the time taken and rate of complications, often allowing an early discharge. In comparison, neuronavigation-assisted biopsies are performed under general anesthesia and their complications have been poorly described. We examined the complication rate and determined which patients will worsen clinically. METHODS: All adults who underwent a neuronavigation-assisted brain biopsy for a supratentorial lesion from Jan, 2015, to Jan, 2021, in the Neurosurgical Department of the University Hospital Center of Bordeaux, France, were analyzed retrospectively in accordance with the Strengthening the Reporting of Observational studies in Epidemiology (STROBE) statement. The primary outcome of interest was short-term (7 days) clinical deterioration. The secondary outcome of interest was the complication rate. RESULTS: The study included 240 patients. The median postoperative Glasgow score was 15. Thirty patients (12.6 %) showed acute postoperative clinical worsening, including 14 (5.8 %) with permanent neurological worsening. The median delay was 22 h after the intervention. We examined several clinical combinations that allowed early postoperative discharge. A preoperative Glasgow prognostic score of 15, Charlson Comorbidity Index ≤ 3, preoperative World Health Organization Performance Status ≤ 1, and no preoperative anticoagulation or antiplatelet treatment predicted postoperative worsening (negative predictive value, 96.3 %). CONCLUSION: Optical neuronavigation-assisted brain biopsies might require longer postoperative observation than frame-based biopsies. Based on strict preoperative clinical criteria, we consider to plan postoperative observation for 24 h a sufficient hospital stay for patients who undergo these brain biopsies.


Subject(s)
Brain Neoplasms , Neuronavigation , Adult , Humans , Neuronavigation/methods , Brain Neoplasms/pathology , Patient Discharge , Retrospective Studies , Biopsy/adverse effects , Biopsy/methods , Brain/diagnostic imaging , Brain/surgery , Brain/pathology
6.
World Neurosurg ; 165: e743-e749, 2022 09.
Article in English | MEDLINE | ID: mdl-35798292

ABSTRACT

BACKGROUND: One of the main concerns of anterior lumbar spine approaches are vascular complications. The aim of our study is to provide technical details about a flap technique using the anterior longitudinal ligament (ALL) when approaching the lumbar spine via an anterior corridor. This can help decrease complications by protecting the adjacent vascular structures. We also include a retrospective cohort review. METHODS: This is a retrospective bicentric study: 189 patients with a mean age of 44.2 years underwent anterior lumbar spine surgery using the ALL flap technique. Patients were diagnosed with degenerative pathologies. We treated 239 lumbar levels primarily at the L4-5 and L5-S1: 88 single-level anterior lumbar interbody fusions, 9 two-level ALIFs, 51 total disk replacements (TDR), and 41 hybrid constructs (i.e., ALIF L5S1 and TDR L4L5). Anterior approaches were performed by two senior spine surgeons. The ALL flap technique was utilized in all of these cases, by carefully dissecting the ALL, with the flap suspended using sutures. As such, this ALL flap provided a "safe corridor" to avoid any potential vascular laceration. RESULTS: The operative and early surgical complication rate was 3.2%. There was no arterial injury. There were only 2 minor venous lacerations (1.05%). No blood transfusion was required. Neither lacerations happened during disk space preparation. CONCLUSIONS: Here, we provide technical details about a simple and reproducible technique using the ALL as a flap, which may help spine surgeons minimize vascular injuries during ALIF or even TDR surgeries.


Subject(s)
Lacerations , Spinal Fusion , Vascular System Injuries , Adult , Humans , Lacerations/etiology , Longitudinal Ligaments/surgery , Lumbar Vertebrae/surgery , Retrospective Studies , Spinal Fusion/adverse effects , Spinal Fusion/methods , Vascular System Injuries/etiology
7.
Rev Med Suisse ; 18(770): 324-327, 2022 Feb 23.
Article in French | MEDLINE | ID: mdl-35224907

ABSTRACT

Digestive and nutritional problems of children with cerebral palsy put them at risk of malnutrition. Identification of these problems through measurements of weight, height, and body composition is essential. Feeding difficulties may be caused by a combination of oral and digestive problems, such as swallowing difficulties, gastroesophageal reflux, and constipation. If oral feeding is difficult or unsafe, a nasogastric tube or gastrostomy may be necessary. Once the feeding regimen has been established, energy needs must be assessed on an individual basis. This nutritional management involves a multidisciplinary team of health care professionals, the child, and the family.


Les problématiques digestives et nutritionnelles des enfants avec infirmité motrice cérébrale les mettent à risque de malnutrition. L'identification de ces troubles par les mesures de poids, taille, et composition corporelle, est primordiale. Les difficultés alimentaires peuvent être causées par une combinaison de problèmes bucco-dentaires et digestifs, tels que les difficultés de déglutition et le reflux gastro-œsophagien ou la constipation. Si l'alimentation per os est difficile ou dangereuse, il peut être nécessaire de mettre en place une sonde nasogastrique ou une gastrostomie. Une fois le mode d'alimentation établi, les besoins énergétiques doivent être évalués individuellement. Cette prise en charge nutritionnelle implique une équipe multidisciplinaire composée de professionnels de la santé, de l'enfant et de sa famille.


Subject(s)
Cerebral Palsy , Deglutition Disorders , Malnutrition , Nutrition Disorders , Cerebral Palsy/complications , Cerebral Palsy/therapy , Child , Deglutition Disorders/etiology , Deglutition Disorders/therapy , Gastrostomy/adverse effects , Humans , Malnutrition/complications , Nutrition Disorders/complications , Nutritional Status
8.
Children (Basel) ; 8(7)2021 Jul 20.
Article in English | MEDLINE | ID: mdl-34356591

ABSTRACT

Objectives: T-cell mediated rejection (TCMR) can compromise long-term liver allograft survival. The immunomodulatory properties of vitamin D are increasingly recognized. We investigated whether perturbations in vitamin D metabolism prior to LT may predispose to TCMR in a representative cohort of paediatric LT recipients. Methods: In this retrospective single-center study of children who underwent liver transplantation between 2005 and 2017, we collected serum 25(OH) vitamin D levels and other parameters related to vitamin D metabolism. Post-transplant variables were collected from medical records during the first year following LT. Results: Eighty-two patients were included. Twenty-six (32%) developed TCMR, 52 (65%) presented at least one event of 25(OH) D insufficiency during the year before the transplant, while 23 (32%) had at least one documented elevated plasma parathyroid hormone level. Forty-six patients benefited from nutritional support (56%). The development of TCMR was associated with vitamin D insufficiency pre-LT (p = 0.01). No significant correlations were identified between PTH levels and incidence of TCMR. The association was stronger in patients transplanted for cholestatic diseases (p = 0.004). Conclusions: Vitamin D insufficiency before a liver transplant may be associated with TCMR during the first year post-LT. These findings warrant further investigation.

9.
JPEN J Parenter Enteral Nutr ; 44(6): 1089-1095, 2020 08.
Article in English | MEDLINE | ID: mdl-31808180

ABSTRACT

BACKGROUND: Education and training may improve the prescription of pediatric parenteral nutrition. The aim was to evaluate the impact of an e-learning method on parenteral nutrition prescription skills among pediatric residents in 2 pediatric hospitals. METHODS: A randomized double-blind control study was conducted over a 9-month period among pediatric residents in HOSP1, Geneva, Switzerland, where physicians prescribe parenteral nutrition directly, and in HOSP2, Montreal, Canada, where physicians prescribe only occasionally because clinical pharmacists are devoted to this activity. The intervention consisted of an e-learning session about key issues of parenteral nutrition. Physician parenteral nutrition knowledge was evaluated with a standardized questionnaire based on clinical cases before and after the e-learning in the intervention groups; in the control groups, only the 2 tests were conducted. In HOSP1, participants also underwent iterative tests every 2 months to measure the retention of knowledge. RESULTS: Sixty-five physicians participated. Initial knowledge scores were higher in HOSP1 (pretest scores 180 ± 29 vs 133 ± 24, p < 0.001). Overall, there was no significant difference in the impact of the e-learning intervention between the control and e-learning groups (p > 0.05). A significant knowledge improvement was observed in HOSP2 in the e-learning group (p = 0.033). Iterative tests in HOSP1 showed persistence of knowledge without significant differences between the groups. E-learning satisfaction among the participants was outstanding (100%). CONCLUSION: E-learning seems to be an effective method for teaching parenteral nutrition among pediatric residents and fellows at the beginning of the training. High satisfaction with this teaching method was observed in this study.


Subject(s)
Computer-Assisted Instruction , Parenteral Nutrition , Canada , Child , Double-Blind Method , Hospitals, University , Humans , Pilot Projects
10.
Pediatr Transplant ; 24(1): e13611, 2020 02.
Article in English | MEDLINE | ID: mdl-31682057

ABSTRACT

Despite growing interest about the impact of donor-specific HLA antibodies (DSA) in LT limited data are available for pediatric recipients. Our aim was to perform a retrospective single-center chart review of children (0-16 years) having undergone LT between January 1, 2005 and December 31, 2017, to characterize DSA, to identify factors associated with the development of de novo DSA, and to analyze potential associations with the diagnosis of TCMR. Information on patient- and donor-characteristics and LB reports were analyzed retrospectively. Serum obtained before LT and at LB was analyzed for presence of recipient HLA antibody using Luminex® technology. MFI > 1000 was considered positive. In 63 pediatric LT recipients with a median follow-up of 72 months, the overall prevalence of de novo DSA was 60.3%. Most were directed against class II antigens (33/38, 86.8%). Preformed DSA were present in 30% of patients. Twenty-eight (28/63) patients (44.4%) presented at least one episode of TCMR, mostly (12/28, 43%) moderate (Banff 6-7). De novo DSA were significantly more frequent in patients with TCMR than in patients without (75% vs 48.6%, P = .03), and patients with preformed and de novo DSA had a significantly higher rate of TCMR than patients without any DSA (66.7% vs 20%, P = .02). Neither preformed DSA nor de novo DSA were associated with frequency or severity of TCMR. Recipients with lower weight at LT developed de novo DSA more frequently (P = .04). De novo DSA were highly prevalent in pediatric LT recipients. Although associated with the development of TCMR, they did not appear to impact the frequency or severity of TCMR or graft survival. Instead, de novo DSA may suggest a state of insufficient IS.


Subject(s)
Graft Rejection/immunology , HLA Antigens/immunology , Isoantibodies/immunology , Liver Transplantation , Liver/pathology , T-Lymphocytes/immunology , Adolescent , Biomarkers/blood , Biopsy , Child , Child, Preschool , Female , Follow-Up Studies , Graft Rejection/blood , Graft Rejection/diagnosis , HLA Antigens/blood , Humans , Infant , Infant, Newborn , Isoantibodies/blood , Liver/immunology , Male , Retrospective Studies
11.
Ágora (Rio J. Online) ; 22(1): 134-143, jan.-abr. 2019.
Article in English | LILACS | ID: biblio-986218

ABSTRACT

ABSTRACT: In reference to the case history of an incarcerated man, this article explores the difference between the Lacanian concepts of the act and the passage à l'acte in reference to the position of the subject and questions around psychic structure (neurosis, psychosis). The authors seek to show how the criminal act can be viewed as an effort towards a structural reorganization of the subject.


Resumo: Partindo da história do caso de um homem encarcerado, o artigo explora a diferença entre os conceitos lacanianos de ato e de passagem ao ato, no que concerne à posição do sujeito e às questões em torno da estrutura psíquica (neurose, psicose). Os autores procuram evidenciar como o ato criminoso pode ser visto como um esforço em direção a uma reorganização estrutural do sujeito.


Subject(s)
Psychoanalytic Theory , Stress, Psychological , Criminal Behavior
12.
J Pediatr Gastroenterol Nutr ; 69(1): 45-51, 2019 07.
Article in English | MEDLINE | ID: mdl-30889131

ABSTRACT

OBJECTIVE: To evaluate outcomes of patients with esophageal atresia (EA) on systematic treatment with proton pump inhibitors (PPI) since the neonatal period and to determine factors associated with successful discontinuation of PPI. STUDY DESIGN: Longitudinal cohort study with prospective data collection of 73 EA patients, over 11 years systematically treated with PPI. Outcome and predictive factors for discontinuation of PPI treatment were evaluated at study end in February 2017. The incidence of anastomotic strictures was compared with a historical cohort of 134 EA patients followed in the same institution between 1990 and 2005 before the era of systematic PPI treatment. RESULTS: PPI treatment was discontinued definitively in 48% of patients during follow-up. Prematurity, longer initial hospitalization, moderate-to-severe tracheomalacia, anastomotic leak and anastomotic stricture had a significant negative association with PPI discontinuation on univariate analysis (P < 0.05). On adjusted multivariable Cox regression analysis, moderate-to-severe tracheomalacia and anastomotic leak were negatively associated with discontinuation of PPI treatment (hazard ratio 0.26 [95% CI 0.12-0.59]; P = 0.001 and hazard ratio 0.38 [95% CI 0.16-0.93]; P = 0.03, respectively). There was no significant difference in the incidence of anastomotic strictures in the present cohort compared with the historical cohort (44% vs 39%); (P > 0.05). CONCLUSIONS: PPI treatment does not prevent the formation of anastomotic strictures and appears to be over-prescribed in children with airway symptoms because of tracheomalacia. This suggests that PPI treatment could be prescribed more selectively. Close monitoring and long-term follow-up, however, of these vulnerable patients in specialized multidisciplinary clinics is imperative.


Subject(s)
Esophageal Atresia/surgery , Esophagus/surgery , Gastroesophageal Reflux/drug therapy , Lansoprazole/therapeutic use , Proton Pump Inhibitors/therapeutic use , Tracheoesophageal Fistula/surgery , Anastomosis, Surgical/adverse effects , Anastomotic Leak/etiology , Child , Child, Preschool , Constriction, Pathologic/etiology , Esophageal Atresia/complications , Esophageal pH Monitoring , Female , Gastroesophageal Reflux/etiology , Humans , Infant , Longitudinal Studies , Male , Postoperative Period , Tracheoesophageal Fistula/complications , Tracheomalacia/complications , Treatment Outcome
13.
Rev Med Suisse ; 15(638): 373-375, 2019 Feb 13.
Article in French | MEDLINE | ID: mdl-30762997

ABSTRACT

The vegan diet, although beneficial for adults in the prevention of metabolic diseases, raises questions about its benefits for a growing child : adequate caloric and protein intake, quality of essential amino acids, presence of essential fatty acids, inhibition of absorption of trace elements (including iodine, iron and zinc) and supply of various vitamins. Whereas vegan food is vitamin B12 deprived, the biggest challenge remains the vitamin B12 substitution in pregnant women, breastfeeding mothers and children at any age. Specific management by pediatricians using dietetic support and blood analyzes are required for children under vegan diet with respect of moral and ethical values related to this lifestyle choice.


L'alimentation végétalienne, bien que bénéfique pour les adultes dans la prévention de maladies métaboliques, pose des questions quant à ses bénéfices pour un enfant en croissance : apports caloriques et protéiques suffisants, qualité en acides aminés essentiels et présence d'acides gras, inhibition de l'absorption des vitamines (notamment la D) et des éléments traces (par exemple, iode, fer, et zinc). Elle pose surtout la question de la supplémentation en vitamine B12 des futures mamans, des mères allaitantes et des enfants de chaque âge, alors que leur alimentation en est dépourvue. Des mesures particulières de surveillance diététiques et biologiques, ainsi qu'un accompagnement pédiatrique nutritionnel sont à proposer tout en respectant les valeurs morales et éthiques sous-jacentes à ce choix de vie.


Subject(s)
Diet, Vegan , Diet, Vegetarian , Adult , Child , Diet , Female , Humans , Pregnancy
14.
Eur J Pediatr Surg ; 29(6): 510-515, 2019 Dec.
Article in English | MEDLINE | ID: mdl-30566986

ABSTRACT

OBJECTIVES: Endoscopic follow-up after esophageal atresia (EA) tracheoesophageal fistula (TEF) repair is recommended to detect esophageal histopathological complications. We investigated the prevalence of histopathologically proven esophageal complications (peptic esophagitis, gastric metaplasia, and eosinophilic esophagitis) and assessed the predictors of these complications in children with EA-TEF. MATERIALS AND METHODS: This is a prospective longitudinal cohort study performed between September 2005 and December 2014 comprising 77 children with EA-TEF followed-up until February 2017. Univariate analysis was performed using the Wilcoxon's rank-sum test for continuous variables and the Pearson's chi-square test for categorical variables. Multivariable analysis was performed using a Cox regression hazard model. The association between clinical factors and histopathologically proven complications was estimated using a Cox regression hazard model with time until the appearance of complications as the time scale. RESULTS: All 77 children received proton pump inhibitors (PPIs) (n = 73) or H2 receptor antagonists (H2RA). A total of 252 endoscopies were performed in 73 children (median 2.6/child, range: 1-29). Median age at study completion was 4.9 years (range: 2.3-11.5 years). Histopathologically proven complications occurred in 38 children (52%): peptic esophagitis (n = 32, 44%), eosinophilic esophagitis (n = 15, 21%), and gastric metaplasia (n = 9, 12%). A total of 82% patients were on PPI or H2RA at the time of diagnosis of histological complication. Multivariable Cox regression analysis showed that patients with recurrent anastomotic strictures (>3 dilations) had a higher risk of occurrence of histopathologically proven complications over time (hazard ratio: 3.11, 95% confidence interval [CI]: 1.53-6.34). On univariate analysis, the result of the first endoscopy was not associated with the occurrence of histopathologically proven complications (odds ratio: 0.8, 95% CI: 0.16-3.95). CONCLUSION: Histopathologically proven complications with potential long-term consequences occurred in approximately 50% of children after EA-TEF repair. A history of recurrent anastomotic strictures is associated with the occurrence of these complications. The result of the first endoscopy does not predict the histopathological outcome. Children with EA-TEF warrant close and systematic long-term follow-up at specialized multidisciplinary clinics with endoscopic evaluation.


Subject(s)
Esophageal Atresia/complications , Histamine H2 Antagonists/administration & dosage , Lansoprazole/administration & dosage , Proton Pump Inhibitors/administration & dosage , Tracheoesophageal Fistula/complications , Anastomotic Leak/etiology , Barrett Esophagus/etiology , Child , Disease Progression , Endoscopy, Digestive System/statistics & numerical data , Esophageal Atresia/physiopathology , Esophageal Atresia/therapy , Esophagitis/etiology , Female , Humans , Longitudinal Studies , Male , Proportional Hazards Models , Prospective Studies , Tracheoesophageal Fistula/physiopathology , Tracheoesophageal Fistula/therapy
15.
Horm Res Paediatr ; 90(4): 270-274, 2018.
Article in English | MEDLINE | ID: mdl-29669347

ABSTRACT

BACKGROUND: Cystic fibrosis-related diabetes (CFRD) is the most frequent extrapulmonary complication of cystic fibrosis (CF). METHODS: We report the first combined pancreatic islet-lung-liver transplantation in a 14-year-old adolescent. CFTR was analyzed by Sanger sequencing. Further genes were analyzed by high-throughput sequencing. RESULTS: The patient was diagnosed with CF at the age of 14 months. Nine years later, after diagnosis of CFRD, the patient's BMI and lung function began to decline. Bilateral lung transplantation with simultaneous liver transplantation was performed at the age of 14.5 years. The first islet transplantation (IT) was carried out 10 days later. Six months later, C-peptide secretion after arginine stimulation showed peak values of 371 pmol/L (vs. 569 pmol/L before IT) and insulin doses had slightly increased (1.40 vs. 1.11 units/kg/day before IT). A second IT was performed at the age of 15 years, a third at 16 years. Two years after the first IT, arginine-stimulated C-peptide secretion increased to 2,956 pmol/L and insulin doses could be reduced to 0.82 units/kg/day. HbA1c decreased from 7.3% (57.4 mmol/mol) to 5.9% (41.0 mmol/mol). CONCLUSION: IT following lung and liver transplantation, with injection of islets into a transplanted organ, is feasible. It improves C-peptide secretion, decreases insulin needs, and lowers HbA1c.


Subject(s)
C-Peptide/blood , Cystic Fibrosis , Diabetes Mellitus , Glycated Hemoglobin/metabolism , Insulin/administration & dosage , Islets of Langerhans Transplantation , Liver Transplantation , Lung Transplantation , Adolescent , Cystic Fibrosis/blood , Cystic Fibrosis/therapy , Diabetes Mellitus/blood , Humans , Male
16.
Am J Transplant ; 18(9): 2250-2260, 2018 09.
Article in English | MEDLINE | ID: mdl-29397036

ABSTRACT

The diagnostic criteria for antibody-mediated rejection (ABMR) after small bowel transplantation (SBT) are not clearly defined, although the presence of donor-specific antibodies (DSAs) has been reported to be deleterious for graft survival. We aimed to determine the incidence and prognostic value of DSAs and C4d in pediatric SBT and to identify the histopathologic features associated with C4d positivity. We studied all intestinal biopsies (IBx) obtained in the first year posttransplantation (N = 345) in a prospective cohort of 23 children. DSAs and their capacity to fix C1q were identified by using Luminex technology. Eighteen patients (78%) had DSAs, and 9 had the capacity to fix C1q. Seventy-eight IBx (22.6%) were C4d positive. The independent determinants of C4d positivity were capillaritis grades 2 and 3 (odds ratio [OR] 4.02, P = .047 and OR 5.17, P = .003, respectively), mucosal erosion/ulceration (OR 2.8, P = .019), lamina propria inflammation grades 1 and 2/3 (OR 1.95, P = .043 and OR 3.1, P = .016, respectively), and chorion edema (OR 2.16, P = .028). Complement-fixing DSAs and repeated C4d-positive IBx were associated with poor outcome (P = .021 and P = .001, respectively). Our results support that capillaritis should be considered as a feature of ABMR in SBT and identify C1q-fixing DSAs and repeated C4d positivity as potential markers of poor outcome.


Subject(s)
Capillaries/pathology , Complement C4b/metabolism , Graft Rejection/etiology , Intestine, Small/transplantation , Isoantibodies/adverse effects , Organ Transplantation/adverse effects , Peptide Fragments/metabolism , Tissue Donors , Vasculitis/diagnosis , Adolescent , Biopsy , Capillaries/immunology , Capillaries/metabolism , Child , Child, Preschool , Complement C4b/immunology , Female , Follow-Up Studies , Graft Rejection/pathology , Graft Survival , Humans , Infant , Isoantibodies/immunology , Male , Peptide Fragments/immunology , Postoperative Complications , Prognosis , Retrospective Studies , Risk Factors , Survival Rate , Vasculitis/etiology , Vasculitis/metabolism
17.
Am J Med Genet A ; 176(3): 727-732, 2018 Mar.
Article in English | MEDLINE | ID: mdl-29383842

ABSTRACT

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth restriction (IUGR), facial dysmorphism, immune dysfunction, and liver and skin abnormalities. SD/THE is caused by mutations in TTC37 or SKIV2L, two genes encoding components of the human SKI complex. To date, approximately 50 SD/THE patients have been described with a wide spectrum of mutations, and only one recurrent mutation has been identified in independent families. We present a detailed description of seven patients of Turkish origin with the same new mutation in TTC37: c.4572 G>A p.(Trp1524X). All seven patients were homozygous for this mutation and presented the typical clinical features of SD/THE, but with a milder presentation than usual. All seven patients were alive at the last follow-up. Four out of seven patients had no IUGR, and four patients never required parenteral nutrition. All patients presented a better growth rate than previously described in patients with SD/THE, with 4/7 above the 3rd percentile. The mutation is localized only forty amino acids from the end of TTC37, and as TTC37 is longer than the yeast SKI3, it is possible that a truncated protein is expressed and plays a reduced role in the SKI complex.


Subject(s)
Carrier Proteins/genetics , Diarrhea/congenital , Diarrhea/diagnosis , Mutation , Phenotype , Alleles , Child, Preschool , Family , Female , Genotype , Humans , Infant , Male , Pedigree , Siblings , Syndrome
18.
Eur J Gastroenterol Hepatol ; 30(6): 598-607, 2018 06.
Article in English | MEDLINE | ID: mdl-29360691

ABSTRACT

INTRODUCTION: A small but increasing number of patients with inflammatory bowel disease are diagnosed during childhood or adolescence, and disease distribution and severity at onset vary according to the age at diagnosis. Clinical factors present at the time of diagnosis can be predictive of the disease course. AIM: The aim of this study was to characterize disease behavior and the cumulative complications and extraintestinal manifestations 10 years after the diagnosis and to assess their association with age at diagnosis. PATIENTS AND METHODS: Data of patients participating with the Swiss IBD cohort study registry, a disease duration of 10 years and a complete data set were analyzed. The outcome was defined as the cumulative change of disease behavior, the occurrence of extra-intestinal manifestations or complications, and the necessity for medical or surgical interventions. RESULTS: A total of 481 patients with Crohn's disease (CD) and 386 patients with ulcerative colitis (UC), grouped according to disease onset before 10, 17, 40, or after 40 years of age, were analyzed. Despite differences in sex, initial disease location, and smoking habits, at 10 years after the diagnosis, no difference was found regarding disease behavior in CD or regarding progression of disease extension in UC. Similarly, no age-of-onset-dependent cumulative need for medical or surgical therapies was found. However, higher rates of anemia and lower rates of arthralgia and osteopenia were found in both pediatric-onset CD and UC, and a tendency toward higher rates of stomatitis in pediatric-onset CD, and of primary sclerosing cholangitis and ankylosing spondylitis in pediatric-onset UC. CONCLUSION: After 10 years of disease evolution, age at disease onset is not anymore associated with disease behavior but only with a small difference in the occurrence of specific extraintestinal manifestations and complications.


Subject(s)
Colitis, Ulcerative/epidemiology , Crohn Disease/epidemiology , Adolescent , Adult , Age of Onset , Anemia/epidemiology , Arthralgia/epidemiology , Bone Diseases, Metabolic/epidemiology , Child , Cholangitis, Sclerosing/epidemiology , Colitis, Ulcerative/diagnosis , Colitis, Ulcerative/therapy , Crohn Disease/diagnosis , Crohn Disease/therapy , Disease Progression , Female , Humans , Male , Prevalence , Prognosis , Prospective Studies , Registries , Retrospective Studies , Risk Factors , Severity of Illness Index , Spondylitis, Ankylosing/epidemiology , Stomatitis, Aphthous/epidemiology , Switzerland/epidemiology , Time Factors
19.
J Asthma Allergy ; 10: 197-207, 2017.
Article in English | MEDLINE | ID: mdl-28721077

ABSTRACT

Food protein-induced enterocolitis syndrome (FPIES) is a potentially severe presentation of non-IgE-mediated gastrointestinal food allergy (non-IgE-GI-FA) with heterogeneous clinical manifestations. Acute FPIES is typically characterized by profuse vomiting and lethargy, occurring classically 1-4 hours after ingestion of the offending food. When continuously exposed to the incriminated food, a chronic form has been described with persistent vomiting, diarrhea, and/or failure to thrive. Although affecting mainly infants, FPIES has also been described in adults. Although FPIES is actually one of the most actively studied non-IgE-GI-FAs, epidemiologic data are lacking, and estimation of the prevalence is based on a limited number of prospective studies. The exact pathomechanisms of FPIES remain not well defined, but recent data suggest involvement of neutrophils and mast cells, in addition to T cells. There is a wide range of food allergens that can cause FPIES with some geographical variations. The most frequently incriminated foods are cow milk, soy, and grains in Europe and USA. Furthermore, FPIES can be induced by foods usually considered as hypoallergenic, such as chicken, potatoes or rice. The diagnosis relies currently on typical clinical manifestations, resolving after the elimination of the offending food from the infant's/child's diet and/or an oral food challenge (OFC). The prognosis is usually favorable, with the vast majority of the case resolving before 5 years of age. Usually, assessment of tolerance acquisition by OFC is proposed every 12-18 months. Of note, a switch to an IgE-mediated FA is possible and has been suggested to be associated with a more severe phenotype. Avoiding the offending food requires education of the family of the affected child. A multidisciplinary approach including ideally allergists, gastroenterologists, dieticians, specialized nurses, and caregivers is often useful to optimize the management of these patients, that might be difficult.

20.
Psychoanal Rev ; 104(2): 231-252, 2017 Apr.
Article in English | MEDLINE | ID: mdl-28436782

ABSTRACT

The authors created a dance workshop for schizophrenic patients designed to address their singular experience of space, in which the categories of interior and exterior do not function as limits. The space of the workshop, which, paradoxically, is thought in terms of the psychic space of schizophrenic patients by playing on its borderless quality, creates a continuity between the psychiatric hospital and the external world, and thus helps to prevent the segregation and isolation of such patients. This continuity is established on the basis of both the physical architecture of the workshop setting and the practice of dancing itself. The authors explore the hypothesis that, inside the particular space made possible by the apparatus of the workshop, schizophrenic patients benefit from the experience of movement, beginning with the pulse of rhythm, which establishes a consistency in time. By means of its repetitive character, the beat of music, like movement, accompanies and promotes the experience of continuity, which is the condition for any possible form of symbolizing. Two brief clinical illustrations show how this approach to dance therapy allows a moribund jouissance to be overturned and transformed into the aesthetic jouissance that characterizes the experience of dance.


Subject(s)
Dance Therapy/methods , Schizophrenia/therapy , Hospitals, Psychiatric , Humans
SELECTION OF CITATIONS
SEARCH DETAIL