Showing papers by "Mark P. Johnson published in 2008"
TL;DR: This series demonstrates that surgery can be performed safely on patients who were asymptomatic with congenital cystic cystic adenomatoid malformation of the lung and other types of lung lesions with no mortality and minimal morbidity.
87 citations
TL;DR: MRI demonstrates large lung volumes, increased lung signal intensity, inverted diaphragm, and dilated fluid-filled lower airway, and usually identifies the obstruction level, but CHAOS is frequently misdiagnosed on screening US.
Abstract: Congenital high airway obstruction syndrome (CHAOS) is a rare disorder defined as any fetal abnormality that obstructs the larynx or trachea. Prompt airway intervention at delivery after accurate prenatal diagnosis may allow survival of this otherwise fatal condition. To identify prenatal MRI findings in CHAOS, to compare these findings with those of fetal US, to determine if imaging alters diagnosis and management decisions, and to correlate prenatal with postnatal imaging findings. Records and MRI scans of ten fetuses with CHAOS were reviewed, and the findings correlated with outside and same-day fetal US and postnatal imaging findings. Fetal lung volumes were measured on MRI scans. Large lung volumes were found in 90% of the fetuses. Increased lung signal intensity, inverted diaphragm, and a dilated, fluid-filled lower airway were identified in all. The obstruction level was identified in 90%. MRI changed screening US diagnosis in 70%, but was concordant with the tertiary care US imaging in 90%. Seven fetuses were terminated or died in utero, and three fetuses survived after ex utero intrapartum tracheostomy placement. Autopsy or bronchoscopy performed in 60% confirmed CHAOS. Postnatal chest radiographs and CT showed hyperinflation, while US and fluoroscopy showed diminished diaphragmatic motion. MRI demonstrates large lung volumes, increased lung signal intensity, inverted diaphragm, and dilated fluid-filled lower airway, and usually identifies the obstruction level. The degree of correlation between MRI and tertiary prenatal US is high, but CHAOS is frequently misdiagnosed on screening US. Correct diagnosis may enable planned airway management. Voluminous lungs and diaphragmatic abnormalities persist on postnatal imaging.
84 citations
TL;DR: Deterioration of bladder function, risk of recurrence, and loss of lower-extremity function appear to be the most important long-term complications of IC in children with fMMCs.
Abstract: Object The goal in this study was to evaluate the incidence and clinical implications of the development of cutaneously derived intradural inclusion cysts (ICs) following fetal myelomeningocele (fMMC) closure. Methods Retrospective databases and responses to a parental questionnaire were reviewed to determine the incidence, clinical presentation, and outcomes of fMMCs in children in whom ICs developed at follow-up. Results Prior to the National Institutes of Health (NIH)-sponsored Management of Myelomeningocele Study (MOMS), 54 patients underwent fMMC closure at the authors' institution. Sixteen (30%) presented with symptomatic tethered cord syndrome (TCS) at a median age of 27 months (range 4–93 months). Ten (63%) of the 16 (19% of the total) developed TCS in association with an intradural IC. In 9 (90%) of 10 patients, the IC was seen on preoperative MR imaging, and in 1 it was found during surgery. Four additional children (7% of the total) with evidence of an IC on surveillance MR imaging are currentl...
68 citations
TL;DR: The hypothesis that neurodevelopmental deficits associated with MMC are at least partially acquired and that reversal of HH following fMMC surgery may help to reduce the incidence and severity of BSD is supported.
Abstract: The aim of our study was to delineate whether the reversal of hindbrain herniation (HH) following fetal myelomeningocele (fMMC) closure subsequently reduces the incidence and severity of HH-associated brainstem dysfunction (BSD). Prior to the NIH-sponsored Management of Myelomeningocele Study (MOMS) trial, 54 children underwent fMMC closure at our institution. Forty-eight (89%) families participated in a structured survey focusing on HH-associated BSD (e.g., apnea, neurogenic dysphagia [ND], gastro-esophageal reflux disease [GERD], neuro-ophthalmologic disturbances [NOD]). Median age at follow-up was 72 months (range: 46-98). Fifty-percent required shunting. HH-related symptoms were completely absent in 15 (63%) non-shunted and 10 (42%) shunted children (P=0.15). No HH-related death occurred and none developed severe persistent cyanotic apnea. ND was reported in 2 (8%) non-shunted and 9 (38%) shunted infants (P=0.03). Mild GERD (medically managed) developed in 2 (8%) without and 6 (25%) with shunt placement (P=0.24). NOD was found in 6 (25%) and 13 (54%) of non-shunted and shunted children, respectively (P=0.07). The majority of fMMC children developed no or only mild BSD at follow-up. Our data support the hypothesis that neurodevelopmental deficits associated with MMC are at least partially acquired and that reversal of HH following fMMC surgery may help to reduce the incidence and severity of BSD.
62 citations
TL;DR: In the setting of gastroschisis, isolated findings of gastrointestinal abnormalities on prenatal ultrasound do not correlate with adverse postnatal outcome.
50 citations
TL;DR: This article investigated the preschool neurodevelopmental outcomes of children following fetal myelomeningocele (fMMC) surgery and found that the majority of fMMC children who did not require shunt placement were more likely to have better scores.
48 citations
TL;DR: Radiographically diagnosed PBA as well as pathologically confirmed PBA is frequently associated with microcystic changes consistent with the small cyst type of CCAM, and operative management should be considered for PBA to decrease CCAM-associated risks.
Abstract: Objective: Peripheral bronchial atresia (PBA), a newly identified fetal lung lesion, is often asymptomatic and managed nonoperatively. However, recent studies suggest that bronchial atresia plays a role in the etiology of microcystic maldevelopment present in congenital cystic adenomatoid malformations (CCAM) which require resection to decrease the risk of infection, pneumothorax and malignant degeneration. The purpose of this study was to evaluate the prenatal radiographic and postnatal computed tomography (CT) scan/pathology findings with attention to the pathologic diagnosis of microcystic maldevelopment in infants with the presumptive diagnosis of PBA. Methods: A retrospective review of prenatal and postnatal records of patients diagnosed with fetal lung lesions was performed. Two groups of patients were identified: (1) patients diagnosed with PBA on postnatal CT scan (n = 16), and (2) patients with the pathologically confirmed diagnosis of PBA independent of postnatal CT findings (n = 23). Results: Prenatal ultrasound diagnosis of these lesions included CCAMs, hybrid lesions, bronchopulmonary sequestrations and bronchial atresia. Eleven of the 16 patients in group 1 with the postnatal radiologic diagnosis of PBA underwent surgical resection, 6 of which were found to have microcystic changes consistent with CCAM. Evaluation of the 23 patients in group 2 with pathologically confirmed PBA identified 65% that had evidence of microcystic maldevelopment consistent with the small cyst type of CCAM. Conclusion: Radiographically diagnosed PBA as well as pathologically confirmed PBA is frequently associated with microcystic changes consistent with the small cyst type of CCAM. Thus, operative management should be considered for PBA to decrease CCAM-associated risks.
41 citations
TL;DR: Open prenatal TO in human fetuses increased lung growth, as evidenced by an increase in lung weight, but did not improve parenchymal structure or muscularization of PAs.
30 citations
TL;DR: To describe the outcome of children prenatally diagnosed with omphalocele, exstrophy of the cloaca, imperforate anus and spinal defects (OEIS).
Abstract: Objective
To describe the outcome of children prenatally diagnosed with omphalocele, exstrophy of the cloaca, imperforate anus and spinal defects (OEIS).
Method
A retrospective study identified six fetuses diagnosed with OEIS from 2001 to 2007 and data were collected from pre- and postnatal charts.
Results
Prenatal findings included an infraumbilical wall defect, omphalocele, no visible bladder and spinal defects. Abnormalities of the upper urinary tract were seen in all cases and ambiguous genitalia in four. Four women continued the pregnancy after prenatal counseling and these fetuses were liveborn at a mean gestational age of 36 weeks. Postnatal evaluation confirmed the prenatal findings in the neonates. The children have required multiple surgeries. Common complications are recurrent urinary tract infections and failure to thrive. Neurodevelopment and motor function are normal in all children, except for one child with lower extremity paralysis and global developmental delay.
Conclusion
Prenatal diagnosis of OEIS is reliable and no significant differences in pre- and postnatal findings in the children were found. Correct diagnosis of abnormalities of external and internal genitalia remains a challenge and abnormalities of the upper urinary tract are common. Postnatal survival is good but associated with considerable morbidity and psychosocial consequences. Copyright © 2008 John Wiley & Sons, Ltd.
27 citations
TL;DR: Bipolar UCC is a reasonably safe and effective treatment for selective termination in complicated monochorionic multifetal pregnancies and appears to show apparently normal development between ages 1.5 and 5 years.
Abstract: Objective: To review pregnancy and childhood outcomes following selective termination by ultrasound guided bipolar umbilical cord cauterization (UCC) in complicated monochorionic mu
19 citations
TL;DR: This represents the first reported prenatal diagnosis of nemaline myopathy by fetal muscle biopsy, and pathologic changes characteristic of NM can be identified in mid-second trimester fetal muscle.
Abstract: Objectives: To report and discuss prenatal diagnosis of nemaline myopathy (NM) using fetal muscle biopsy. Methods: A consanguineous couple, with a history of a ch
TL;DR: Left main bronchus occlusion failed to restore normal pulmonary development in CDH and was found to accelerate growth of only the left lung, reduce left visceral herniation, and recover space in the both thoraces necessary for lung development.
TL;DR: Mixed effects models allow for parsimonious modelling of both population and individual growth paths in twin pregnancies as well as conditional norms and the presented model for prenatal EFW in twins was validated on an external cross-sectional birth-weight set.
Abstract: second one was used for model validation and was a cross-sectional registry of twin birth weight in the same area and during the same period. A two-level mixed model was developed on the first database. 90% population prediction intervals were then computed by Monte-Carlo simulation and for gestational ages 28, 30, 32, 34, 36 weeks’ respectively. The upper and lower bounds of these prediction intervals were compared to the 5th and 95th percentiles obtained for the same gestational ages in the second set using a semi-parametric quantile smoother (LMS). Results: 434 consecutive twin pregnancies with a median of 4 measurements (IQR = 2–5) were included in the first set and 929 in the second. A cubic polynomial model was found as best fit. For each of the 5 selected gestational ages, the relative difference between the 90% population prediction bounds for EFW derived from longitudinal measurements and the corresponding 5th and 95th p. in the cross-sectional dataset was < 10%. Conclusions: Mixed effects models allow for parsimonious modelling of both population and individual growth paths in twin pregnancies as well as conditional norms. The precision of the presented model for prenatal EFW in twins was validated on an external cross-sectional birth-weight set.
TL;DR: This research highlights the need to understand more fully the role of language and culture in the development of memory and language impairment in patients with learning and language disabilities.
Abstract: R. Achiron, Tel Hashomer N.S. Adzick, Philadelphia, Pa. L. Allan, London K.J. Blakemore, Baltimore, Md. T.-H. Bui, Stockholm F.A. Chervenak, New York, N.Y. T. Chiba, Tokyo Y. Chiba, Osaka W.H. Clewell, Phoenix, Ariz. J.E. De Lia, Milwaukee, Wisc. Y.M.D. Lo, Hong Kong J.A. Deprest, Leuven G.C. Di Renzo, Perugia M. Dommergues, Paris J.W. Dudenhausen, Berlin Y. Dumez, Paris N.M. Fisk, Brisbane A.W. Flake, Philadelphia, Pa. W.D.A. Ford, North Adelaide U. Gembruch, Bonn P.D. Gluckman, Auckland M. Hansmann, Bonn M.R. Harrison, San Francisco, Calif. J.C. Hobbins, Denver, Colo. L.K. Hornberger, San Francisco, Calif. E.R.M. Jauniaux, London M.P. Johnson, Philadelphia, Pa. C. Jorgensen, Copenhagen J.-M. Jouannic, Paris H.H.H. Kanhai, Leiden A. Kurjak, Zagreb P.M. Kyle, London S. Lipitz, Tel-Hashomer S. Mancuso, Roma G. Mari, Detroit, Mich. M. Martinez-Ferro, Buenos Aires P. Miny, Basel K.J. Moise, Houston, Tex. K.H. Nicolaides, London L. Otaño, Buenos Aires Z. Papp, Budapest R. Quintero, Tampa, Fla. G. Ryan, Toronto J. Rychik, Philadelphia, Pa. G.R. Saade, Galveston, Tex. H. Sago, Tokyo W. Sepulveda, Santiago P. Stone, Auckland D.V. Surbek, Bern M. Tanemura, Nagoya S. Tercanli, Basel J.-L. Touraine, Lyon B.J. Trudinger, Westmead J.M.G. van Vugt, Amsterdam S.L. Warsof, Virginia Beach, Va. C.P. Weiner, Kansas City, Kans. R.D. Wilson, Philadelphia, Pa. R. Zimmermann, Zürich Clinical Advances and Basic Research