Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 52
Filter
1.
Am J Med Genet A ; : e63719, 2024 May 24.
Article in English | MEDLINE | ID: mdl-38789278

ABSTRACT

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings. One case presented with non-immune hydrops fetalis and a horseshoe kidney and was found to have a de novo heterozygous variant in ACTB (c.158A>G). The second case presented with gastroschisis, bilateral cleft lip and palate, and oligohydramnios, and was found to harbor a different de novo variant in ACTB (c.826G>A). Limited reports exist describing prenatally identified anomalies that include fetal growth restriction, increased nuchal fold, bilateral hydronephrosis, rocker bottom foot, talipes, cystic hygroma, omphalocele, and hydrops fetalis. In addition, only three of these cases have included detailed prenatal imaging findings. The two prenatal cases presented here demonstrate an expansion of the prenatal phenotype of BWCFF to include gastroschisis, lymphatic involvement, and oligohydramnios, which should each warrant consideration of this diagnosis in the setting of additional anomalies.

2.
J Pediatr ; 271: 114060, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38641166

ABSTRACT

OBJECTIVE: To evaluate genetic testing utilization and diagnostic yield in infants with esophageal atresia (EA)/tracheoesophageal fistula (TEF) over the past 12 years to inform future practices and individualize prognostication and management. STUDY DESIGN: A retrospective cohort study was performed for all infants with EA or EA/TEF hospitalized between January 2011 and January 2023 at a quaternary children's hospital. For each infant, demographic information, prenatal and postnatal history, and genetic testing were reviewed. RESULTS: There were 212 infants who were classified as follows: 1) complex/syndromic with EA/TEF plus an additional major anatomic anomaly (n = 114, of which 74 met VACTERL criteria); 2) isolated/nonsyndromic EA/TEF (n = 88) and 3) isolated/nonsyndromic EA (n = 10). A range of genetic tests were sent with varying diagnostic rates including karyotype analysis in 12 (all with complex/syndromic phenotypes and all positive), chromosomal microarray analysis in 189 (114 of whom were complex/syndromic with an overall diagnostic rate of 3/189), single gene testing for CHD7 in 18 (4 positive), and exome analysis in 37 complex/syndromic patients (8 positive). CONCLUSIONS: EA/TEF with and without additional anomalies is genetically heterogeneous with a broad range of associated phenotypes. While the genetic etiology of EA/TEF with or without VACTERL remains largely unknown, genome wide testing (exome or genome) including copy number analysis is recommended over chromosomal microarray testing. We anticipate that expanded genetic/genomic testing modalities such as RNA sequencing and tissue specific molecular testing are needed in this cohort to improve our understanding of the genomic contributors to EA/TEF.


Subject(s)
Esophageal Atresia , Genetic Testing , Tracheoesophageal Fistula , Humans , Tracheoesophageal Fistula/genetics , Tracheoesophageal Fistula/diagnosis , Esophageal Atresia/genetics , Esophageal Atresia/diagnosis , Retrospective Studies , Male , Female , Infant, Newborn , Infant , Genomics
3.
Fetal Diagn Ther ; 51(2): 184-190, 2024.
Article in English | MEDLINE | ID: mdl-38198774

ABSTRACT

INTRODUCTION: Randomized controlled trials found that fetoscopic endoluminal tracheal occlusion (FETO) resulted in increased fetal lung volume and improved survival for infants with isolated, severe left-sided congenital diaphragmatic hernia (CDH). The delivery room resuscitation of these infants is particularly unique, and the specific delivery room events are largely unknown. The objective of this study was to compare the delivery room resuscitation of infants treated with FETO to standard of care (SOC) and describe lessons learned. METHODS: Retrospective single-center cohort study of infants treated with FETO compared to infants who met FETO criteria during the same period but who received SOC. RESULTS: FETO infants were more likely to be born prematurely with 8/12 infants born <35 weeks gestational age compared to 3/35 SOC infants. There were 5 infants who required emergent balloon removal (2 ex utero intrapartum treatment and 3 tracheoscopic removal on placental bypass with delayed cord clamping) and 7 with prenatal balloon removal. Surfactant was administered in 6/12 FETO (50%) infants compared to 2/35 (6%) in the SOC group. Extracorporeal membrane oxygenation use was lower at 25% and survival was higher at 92% compared to 60% and 71% in the SOC infants, respectively. CONCLUSION: The delivery room resuscitation of infants treated with FETO requires thoughtful preparation with an experienced multidisciplinary team. Given increased survival, FETO should be offered to infants with severe isolated left-sided CDH, but only in high-volume centers with the experience and capability of removing the balloon, emergently if needed. The neonatal clinical team must be skilled in managing the unique postnatal physiology inherent to FETO where effective interdisciplinary teamwork is essential. Empiric and immediate surfactant administration should be considered in all FETO infants to lavage thick airway secretions, particularly those delivered <48 h after balloon removal.


Subject(s)
Balloon Occlusion , Hernias, Diaphragmatic, Congenital , Female , Humans , Infant , Infant, Newborn , Pregnancy , Balloon Occlusion/methods , Cohort Studies , Delivery Rooms , Fetoscopy/methods , Hernias, Diaphragmatic, Congenital/surgery , Placenta , Retrospective Studies , Surface-Active Agents , Trachea/surgery
4.
Biomed Pharmacother ; 170: 115996, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38086148

ABSTRACT

Congenital diaphragmatic hernia (CDH) is a congenital malformation characterized by pulmonary hypoplasia, pulmonary hypertension, and cardiac dysfunction. Pulmonary hypertension represents the major cause of neonatal mortality and morbidity. Prenatal diagnosis allows assessment of severity and selection of foetal surgery candidates. We have shown that treprostinil, a prostacyclin analogue with an anti-remodelling effect, attenuates the relative hypermuscularization of the pulmonary vasculature in rats with nitrofen-induced CDH. Here we confirm these observations in a large animal model of surgically-created CDH. In the rabbit model, subcutaneous maternal administration of treprostinil at 150 ng/kg/min consistently reached target foetal concentrations without demonstrable detrimental foetal or maternal adverse effects. In pups with CDH, prenatal treprostinil reduced pulmonary arteriolar proportional medial wall thickness and downregulated inflammation and myogenesis pathways. No effect on alveolar morphometry or lung mechanics was observed. These findings provide further support towards clinical translation of prenatal treprostinil for CDH.


Subject(s)
Hernias, Diaphragmatic, Congenital , Hypertension, Pulmonary , Pregnancy , Female , Rabbits , Rats , Animals , Hernias, Diaphragmatic, Congenital/drug therapy , Hypertension, Pulmonary/metabolism , Rats, Sprague-Dawley , Lung/metabolism , Phenyl Ethers/adverse effects , Phenyl Ethers/metabolism , Disease Models, Animal
5.
J Intensive Care Med ; : 8850666231212874, 2023 Nov 06.
Article in English | MEDLINE | ID: mdl-37933125

ABSTRACT

Infants with congenital diaphragmatic hernia (CDH) benefit from comprehensive multidisciplinary teams that have experience in caring for the unique and complex issues associated with CDH. Despite prenatal referral to specialized high-volume centers, advanced ventilation strategies and pulmonary hypertension management, and extracorporeal membrane oxygenation, mortality and morbidity remain high. These infants have unique and complex issues that begin in fetal and infant life, but persist through adulthood. Here we will review the literature and share our clinical care pathway for neonatal care and follow up. While many advances have occurred in the past few decades, our work is just beginning to continue to improve the mortality, but also importantly the morbidity of CDH.

6.
J Pediatr Surg ; 58(12): 2384-2390, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37813715

ABSTRACT

INTRODUCTION: Fetuses with large lung lesions including congenital cystic adenomatoid malformations (CCAMs) are at risk for cardiopulmonary compromise. Prenatal maternal betamethasone and cyst drainage for micro- and macrocystic lesions respectively have improved outcomes yet some lesions remain large and require resection before birth (open fetal surgery, OFS), at delivery via an Ex Utero Intrapartum Treatment (EXIT), or immediately post cesarean section (section-to-resection, STR). We sought to compare prenatal characteristics and outcomes in fetuses undergoing OFS, EXIT, or STR to inform decision-making and prenatal counseling. METHODS: A single institution retrospective review was conducted evaluating patients undergoing OFS, EXIT, or STR for prenatally diagnosed lung lesions from 2000 to 2021. Specimens were reviewed by an anatomic pathologist. Lesions were divided into "CCAMs" (the largest pathology group) and "all lung lesions" since pathologic diagnosis is not possible during prenatal evaluation when care decisions are made. Prenatal variables included initial, greatest, and final CCAM volume-ratio (CVR), betamethasone use/frequency, cyst drainage, and the presence of hydrops. Outcomes included survival, ECMO utilization, NICU length of stay (LOS), postnatal nitric oxide use, and ventilator days. RESULTS: Sixty-nine percent (59 of 85 patients) of lung lesions undergoing resection were CCAMs. Among patients with pathologic diagnosis of CCAM, the initial, largest, and final CVRs were greatest in OFS followed by EXIT and STR patients. Similarly, the incidence of hydrops was significantly greater and the rate of hydrops resolution was lower in the OFS group. Although the rate of cyst drainage did not differ between groups, maternal betamethasone use varied significantly (OFS 60.0%, EXIT 100.0%, STR 74.3%; p = 0.0378). Notably, all OFS took place prior to 2014. There was no difference in survival, ventilator days, nitric oxide, NICU LOS, or ECMO between groups. In multiple variable logistic modeling, determinants of survival to NICU discharge among patients undergoing resection with a pathologic diagnosis of CCAM included initial CVR <3.5 and need for <3 maternal betamethasone doses. CONCLUSION: For CCAMs that remain large despite maternal betamethasone or cyst drainage, surgical resection via OFS, EXIT, or STR are viable options with favorable and comparable survival between groups. In the modern era there has been a shift from OFS and EXIT procedures to STR for fetuses with persistently large lung lesions. This shift has been fueled by the increased use of maternal betamethasone and introduction of a Special Delivery Unit during the study period and the appreciation of similar fetal and neonatal outcomes for STR vs. EXIT and OFS with reduced maternal morbidity associated with a STR. Accordingly, efforts to optimize multidisciplinary perinatal care for fetuses with large lung lesions are important to inform patient selection criteria and promote STR as the preferred surgical approach in the modern era. LEVEL OF EVIDENCE: Level IV.


Subject(s)
Cystic Adenomatoid Malformation of Lung, Congenital , Cysts , Infant, Newborn , Pregnancy , Humans , Female , Hydrops Fetalis/diagnosis , Hydrops Fetalis/drug therapy , Hydrops Fetalis/etiology , Cesarean Section/adverse effects , Nitric Oxide , Betamethasone/therapeutic use , Cystic Adenomatoid Malformation of Lung, Congenital/surgery , Ultrasonography, Prenatal , Retrospective Studies , Lung , Cysts/complications
7.
Am J Bioeth ; 23(5): 67-78, 2023 05.
Article in English | MEDLINE | ID: mdl-35362359

ABSTRACT

Since the early 1980's, with the clinical advent of in vitro fertilization resulting in so-called "test tube babies," a wide array of ethical considerations and concerns regarding artificial womb technology (AWT) have been described. Recent breakthroughs in the development of extracorporeal neonatal life support by means of AWT have reinitiated ethical interest about this topic with a sense of urgency. Most of the recent ethical literature on the topic, however, pertains not to the more imminent scenario of a physiologically improved method of neonatal care through AWT, but instead to the remote scenario of "complete ectogenesis" that imagines human gestation occurring entirely outside of the womb. This scoping review of the ethical literature on AWT spans from more abstract concerns about complete ectogenesis to more immediate concerns about the soon-to-be-expected clinical life support of what we term the fetal neonate or fetonate. Within an organizing framework of different stages of human gestational development, from conception to the viable premature infant, we discuss both already identified and newly emerging ethical considerations and concerns regarding AWT and the care of the fetonate.


Subject(s)
Infant, Premature , Uterus , Infant, Newborn , Female , Infant , Humans , Fetus , Technology
8.
Biol Sport ; 39(3): 563-569, 2022 Sep.
Article in English | MEDLINE | ID: mdl-35959328

ABSTRACT

This study aimed to evaluate the application of a single pre-exercise bout of partial-body cryotherapy (PBC) to augment jump performance, salivary biomarkers and self-reported performance readiness. Twelve male rugby union players (age 20.7 ± 3.2 yr; body mass 93.1 ± 13.9 kg; mean ± SD) were exposed to PBC for 3 min at -140°C or control condition prior to a pre-post series of loaded countermovement jumps (CMJ), salivary biomarker samples and performance readiness questionnaires. PBC elicited a moderately greater improvement in CMJ velocity of +4.7 ± 3.5% (mean ± 90% confidence limits) from baseline to 15 min in comparison with a -1.9 ± 4.8% mean difference in the control condition. The mean change in concentration of salivary α-amylase at 15 min was substantially increased by +131 ± 109% after PBC exposure, compared to a -4.2 ± 42% decrease in the control. Salivary testosterone concentrations were unclear at all timepoints in both the PBC and control interventions. Self-reported perceptions of overall performance readiness indicated small to moderate increases in mental fatigue, mood, muscle soreness and overall questionnaire score after PBC compared to control with a higher score more favourable for performance. The application of pre-exercise PBC can elicit favourable outcomes in controlled physical performance tests and holds promise to be applied to training or competition settings.

10.
EBioMedicine ; 81: 104106, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35779494

ABSTRACT

BACKGROUND: Persistent pulmonary hypertension (PH) causes significant mortality and morbidity in infants with congenital diaphragmatic hernia (CDH). Since pulmonary vascular abnormalities in CDH develop early during foetal development, we hypothesized that prenatal maternal administration of treprostinil, through its anti-remodelling effect, would improve the PH-phenotype in the nitrofen rat model of CDH. METHODS: In a dose-finding study in normal, healthy pregnant rats, we demonstrated target-range foetal plasma treprostinil concentrations without signs of toxicity. Next, an efficacy study was performed assessing the effects of treprostinil administration at 900 and 1500ng/kg/min from gestational day (GD) 16 until term (GD 21) in CDH and control pups. Pulmonary vascular and airway morphometry, lung mechanics, and expression patterns of genes implicated in the prostaglandin vasoactive pathway were studied. FINDINGS: In rats maternal administration of 1500ng/kg/min treprostinil reached target foetal concentrations, with no detrimental maternal or foetal side-effects. Prenatal exposure to 900 and 1500 ng/kg/min treprostinil reduced the medial wall thickness (%MWT) (CDH·900, 38.5± 8·4%; CDH.1500, 40·2±9·7%; CDH, 46·6±8·2%; both p < 0·0001) in rat pups with CDH, however increased the %MWT in normal foetuses (C.T.900, 36·6±11·1%; C.T.1500, 36·9±9·3%; C.P., 26·9±6·2%; both p < 0·001). Pulmonary airway development, lung hypoplasia and pulmonary function were unaffected by drug exposure. INTERPRETATION: In pregnant rats maternally administered treprostinil crosses the placenta, attains foetal target concentrations, and is well tolerated by both mother and foetuses. This report shows a significant reduction of pulmonary arteriole muscularization with prenatal treprostinil in a nitrofen rat model, supporting the promise of this treatment approach for PH of CDH. FUNDING: United Therapeutics Corporation provided treprostinil and financial support (ISS-2020-10879).


Subject(s)
Hernias, Diaphragmatic, Congenital , Hypertension, Pulmonary , Lung Diseases , Animals , Disease Models, Animal , Epoprostenol/analogs & derivatives , Female , Hernias, Diaphragmatic, Congenital/etiology , Hernias, Diaphragmatic, Congenital/genetics , Hypertension, Pulmonary/drug therapy , Hypertension, Pulmonary/etiology , Hypertension, Pulmonary/metabolism , Lung/metabolism , Lung Diseases/metabolism , Phenotype , Pregnancy , Rats
12.
Int J Sports Physiol Perform ; 17(6): 893-900, 2022 Jun 01.
Article in English | MEDLINE | ID: mdl-35235905

ABSTRACT

PURPOSE: This study evaluated the effect of partial-body cryotherapy (PBC) exposure 1, 2, or 3 hours before maximal-effort jump performance, salivary enzyme concentration, perceived readiness, and well-being. METHODS: Male team-sport players (N = 27; 24.2 [3.6] y; 91.5 [13.2] kg) were exposed to a blinded bout of PBC (-135°C [6°C]) and control (-59°C [17°C]) either 1, 2, or 3 hours prior to countermovement jumps. Passive saliva samples were collected to determine α-amylase concentration. Self-reported performance readiness and well-being questionnaires were completed using a 1-5 Likert scale. RESULTS: Differences in the change in mean countermovement jump velocity and absolute power between PBC and control were unclear at 1 hour (+1.9% [5.3%], P = .149; +0.7% [10.6%], P = .919; mean difference [90% confidence limits]), 2 hours (+3.3% [2.7%], P = .196; +7.8% [7.4%], P = .169), and 3 hours postexposure (+3.1% [3.3%], P = .467; +0.7% [4.8%], P = .327). Salivary α-amylase concentration was elevated 15 minutes postexposure in the 1-hour (+61% [14%], P = .008) and 2-hour groups (+55% [12%], P = .013). The increase in self-reported performance readiness was higher after PBC (+2.4 [1.2] units, P = .046) in the 2-hour group and by 1.4 (1.1) units (P = .023) after 3 hours. Mental fatigue was favorably decreased 2 hours after PBC exposure (+0.5 [0.1], P = .041). CONCLUSIONS: An acute exposure of PBC elicits potentially favorable but unclear changes in countermovement jump performance. The PBC enhances salivary α-amylase concentration and perceived performance readiness, reduces mental fatigue, and could be useful in sport-specific training or competitions.


Subject(s)
Athletic Performance , Salivary alpha-Amylases , Cryotherapy , Humans , Male , Mental Fatigue
13.
J Pediatr Surg ; 57(6): 991-998, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35346482

ABSTRACT

BACKGROUND: Neurodevelopmental impairment is common in survivors of congenital diaphragmatic hernia (CDH). Altered cerebral perfusion in utero may contribute to abnormal brain development in CDH patients. METHODS: 5 fetal lambs with surgical left-CDH and 5 controls underwent transuterine cranial Doppler and contrast enhanced ultrasound (CEUS). Global and regional perfusion metrics were obtained. Biometric and perfusion data were compared between groups via nonparametric Mann Whitney U test and Spearman's rank order correlation. RESULTS: No significant differences in cerebral Doppler measurements were identified between groups. By CEUS, CDH animals demonstrated significantly decreased global brain perfusion and increased transit time. With focal regions-of-interest (ROIs), there was a tendency towards decreased perfusion in the central/thalamic region in CDH but not in the peripheral brain parenchyma. Transit time was significantly increased in both ROIs in CDH, whereas flux rate was decreased in the central/thalamic region but not the peripheral brain parenchyma. Biometric CDH severity was correlated to perfusion deficit. There was no difference in cardiomyocyte histology. CONCLUSION: The fetal lamb model of CDH shows altered cerebral perfusion as measured by CEUS, correlating to disease severity. This suggests a physiological abnormality in fetal cerebrovascular perfusion that may contribute to abnormal brain development and neurodevelopmental impairment in survivors.


Subject(s)
Hernias, Diaphragmatic, Congenital , Animals , Cerebrovascular Circulation , Fetus , Hernias, Diaphragmatic, Congenital/pathology , Humans , Lung , Perfusion , Sheep , Ultrasonography, Doppler
14.
Prenat Diagn ; 42(3): 291-300, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35199368

ABSTRACT

Congenital diaphragmatic hernia can be diagnosed in the prenatal period and its severity can be measured by fetal imaging. There is now level I evidence that, in selected cases, Fetoscopic Endoluminal Tracheal Occlusion with a balloon increases survival to discharge from the neonatal unit as well as the risk for prematurity. Both effects are dependent on the time point of tracheal occlusion. Fetoscopic Endoluminal Tracheal Occlusion may also lead to iatrogenic death when the balloon cannot be timely retrieved. The implementation of the findings from our clinical studies, may also vary based on local conditions. These may be different in terms of available skill set, access to fetal therapy, as well as outcome based on local neonatal management. We encourage prior benchmarking of local outcomes with optimal postnatal management, based on large enough numbers and using identical criteria as in the recent trials. We propose to work further on prenatal prediction methods, and the improvement of fetal intervention. In this manuscript, we describe a research agenda from a fetal medicine perspective. This research should be in parallel with innovation in neonatal and pediatric (surgical) management of this condition.


Subject(s)
Balloon Occlusion , Fetal Therapies , Hernias, Diaphragmatic, Congenital , Child , Female , Fetoscopy/methods , Hernias, Diaphragmatic, Congenital/diagnostic imaging , Hernias, Diaphragmatic, Congenital/surgery , Humans , Infant, Newborn , Pregnancy , Trachea/diagnostic imaging , Trachea/surgery
15.
Int J Sports Physiol Perform ; 17(3): 415-422, 2022 03 01.
Article in English | MEDLINE | ID: mdl-34920412

ABSTRACT

PURPOSE: To determine whether a single acute preexercise bout of partial-body cryotherapy (PBC) enhanced maximal-effort shuttle run performance, salivary enzyme concentration, and self-reported performance readiness. METHODS: A total of 18 male rugby league players (age = 20.1 [0.5] y; mass = 91.4 [12.4] kg) were exposed to either PBC for 3 minutes at -136°C (1°C) or a control condition prior to a continuous, high-intensity 6 × 40-m shuttle run test. Passive saliva samples were collected to determine salivary alpha amylase (sAA) concentration. Perceived performance readiness and well-being questionnaires were completed using a 1-to-7 Likert scale. RESULTS: The PBC exposure did not elicit a greater improvement in 6 × 40-m shuttle run performance in comparison with the control condition (standardized difference; +0.4 [5.9%]; P = .881; mean ± 90% confidence limits). The increase in sAA concentration was moderately greater 15 minutes after PBC compared with the control group (+67 [32%], P = .012) and remained moderately higher up to 2 hours post-PBC exposure compared with the control condition (+41 [40%], P = .045). There were greater improvements in self-reported perceptions of muscle soreness (+0.6 [0.4%], P = .043; units ±90% confidence limits) and mood (+0.6 [0.7%], P = .038) after PBC compared with control. CONCLUSIONS: It appears that a single 3-minute bout of PBC does not augment maximal effort shuttle run performance in elite rugby league players. Beneficial increases in sAA concentration, coupled with improved perceptions of muscle soreness and mood, should be explored further for alternative training or precompetition practices.


Subject(s)
Athletic Performance , Running , Adult , Athletic Performance/physiology , Cryotherapy , Humans , Male , Myalgia/therapy , Running/physiology , Young Adult
16.
Sports (Basel) ; 9(10)2021 Sep 30.
Article in English | MEDLINE | ID: mdl-34678916

ABSTRACT

Whole- (WBC) and partial-body cryotherapy (PBC) are commonly used sports medicine modalities for the treatment of injury and exercise recovery. Physiological and perceptual effects have the potential to be utilised in a novel application that involves pre-exercise WBC and PBC exposure to improve physical performance. A systematic literature search of multiple databases was conducted in July 2021 to identify and evaluate the effects of pre-exercise exposure of WBC or PBC on physical performance measures, and any potential translational effects. The following inclusion criteria were applied: (1) use of WBC or PBC exposure pre-exercise, (2) use of WBC or PBC in healthy and/or athletic populations, (3) control group was used in the data collection, and (4) investigated physiological, psychosocial or direct physical performance impacts of pre-exercise cryotherapy exposure. A total of 759 titles were identified, with twelve relevant studies satisfying the inclusion criteria after full-text screening. The twelve studies were categorised into three key areas: performance testing (n = 6), oxidative stress response (n = 4) and lysosomal enzyme activity (n = 2). The potential for eliciting favourable physical and physiological responses from pre-exercise WBC or PBC is currently unclear with a paucity of good quality research available. Furthermore, a lack of standardisation of cryotherapy protocols is a current challenge.

17.
J Pediatr Surg ; 55(7): 1196-1200, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32037219

ABSTRACT

BACKGROUND: Few studies have directly compared between cecostomy and appendicostomy for the management of fecal incontinence in pediatric population. This systematic review of the literature describes outcomes and complications following both procedures. We also reviewed studies reporting impact on quality of life and patient satisfaction. METHODS: MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials (CENTRAL), and Google Scholar were searched for chronic constipation pediatric patients who underwent cecostomy or appendicostomy. Two reviewers independently screened studies, extracted data, and assessed quality. RESULTS: An initial literature search retrieved 633 citations. After review of all abstracts, 40 studies were included in the final analysis, assessing a total of 2086 patients. The overall rate of complications was lower in the cecostomy group compared to the appendicostomy group (16.6% and 42.3%, respectively). Achievement of fecal continence and improvement in patient quality of life were found to be similar in both groups, however the need for revision of surgery was approximately 15% higher in the appendicostomy group. CONCLUSION: Cecostomy has less post procedural complications, however rates of patient satisfaction and impact on quality of life were similar following both procedures. LEVEL OF EVIDENCE: III.


Subject(s)
Cecostomy , Colostomy , Enema/methods , Fecal Incontinence/surgery , Adolescent , Appendix/surgery , Cecostomy/adverse effects , Cecostomy/statistics & numerical data , Cecum/surgery , Child , Child, Preschool , Colostomy/adverse effects , Colostomy/statistics & numerical data , Female , Humans , Infant , Male
18.
J Pediatr Surg ; 55(10): 2115-2123, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32014247

ABSTRACT

BACKGROUND/PURPOSE: Neurologic injury remains the most important morbidity of prematurity. Those born at the earliest gestational ages can face a lifetime of major disability. Perinatal insults result in developmental delay, cerebral palsy, and other profound permanent neurologic impairments. The EXTracorporeal Environment for Neonatal Development (EXTEND) aims to transition premature neonates through this sensitive period, but it's impact on neurologic development requires analysis. METHODS: Fetal sheep were maintained in a fluid-filled environment for up to 28 days. Physiologic parameters were measured continuously; tissues were subsequently fixed and preserved for myelin quantification, glial cell staining, and structural assessment via magnetic resonance. Surviving animals were functionally assessed. RESULTS: No evidence of fetal brain ischemia or white matter tract injury associated with the EXTEND system was detected, and the degree of myelination was regionally appropriate and consistent with age matched controls. No evidence of neurologic injury or immaturity was visible on magnetic resonance; animals that transitioned from the system had no persistent neurologic deficits. CONCLUSIONS: No evidence of major neurologic morbidity was found in animals supported on the EXTEND system, though more work needs to be done in order to verify its safety during critical periods of neurologic development.


Subject(s)
Brain , Fetus/physiology , Intensive Care, Neonatal/methods , Premature Birth/therapy , Animals , Animals, Newborn , Brain/diagnostic imaging , Brain/physiology , Magnetic Resonance Imaging , Myelin Sheath/chemistry , Myelin Sheath/physiology , Sheep , Sheep, Domestic
19.
Biol Blood Marrow Transplant ; 26(1): e21-e24, 2020 01.
Article in English | MEDLINE | ID: mdl-31493540

ABSTRACT

The rationale for in utero hematopoietic cell transplantation (IUHCT) rests on exploitation of normal events during hematopoietic and immunologic ontogeny to allow allogeneic hematopoietic engraftment without myeloablative conditioning.  Host hematopoietic competition is among the primary barriers to engraftment in IUHCT. In the murine model this can be partially overcome by delivery of larger donor cell doses, but volume is limiting. Enrichment of donor hematopoietic stem cells (HSCs) would seem to offer a more efficient approach, but such enriched populations have engrafted poorly in existing models of IUHCT. To increase HSC dose while maintaining the presence of accessory cells, we used a less stringent enrichment protocol of single-step lineage depleted cells alone (lin-) or in combination with whole donor bone marrow mononuclear cells. Our results confirm that increasing doses of HSCs in combination with bone marrow accessory cells can dramatically improve engraftment after IUHCT. This represents a practical and clinically applicable strategy to maximize the engraftment potential of the donor graft without risk of treatment-associated toxicity.


Subject(s)
Graft Survival , Hematopoietic Stem Cell Transplantation , Hematopoietic Stem Cells , Transplantation Chimera/blood , Transplantation Conditioning , Allografts , Animals , Disease Models, Animal , Female , Mice
20.
Front Physiol ; 10: 1007, 2019.
Article in English | MEDLINE | ID: mdl-31447697

ABSTRACT

The final hours of preparation before competition are important for performance. Recovery, preparation and warm up protocols are evolving continuously and include passive and active modalities often developed by "trial and error" approaches. Passive modalities, such as whole-body cryotherapy (WBC), have the potential to enhance both recovery and preparation. Whole-body cryotherapy has generally been used within a recovery setting after competition or strenuous training for athletes, and in clinical settings for the general population. However, the acute hormonal, anti-inflammatory, perceptual and psychological responses yielded by a single, or repeated, bouts of WBC indicate that this practice could enhance an athlete's competition readiness when used alongside traditional elements of active warm-ups in the hours before competition in addition to aiding recovery in the hours after. Here we summarize and evaluate the acute effects of WBC exposures on physiological, performance and perceptual responses, and examine the likelihood these responses could theoretically translate into enhanced athletic performance. The potential to enhance an athlete's performance using acute passive WBC exposure is a novel intervention that requires further investigation.

SELECTION OF CITATIONS
SEARCH DETAIL
...