11/39. Percutaneous catheter evacuation of a pneumatocele in an extremely premature infant with respiratory failure.Progression of pulmonary interstitial emphysema (PIE) to single or multiple pneumatoceles is uncommon, but may be seen in extremely premature infants with respiratory distress syndrome (RDS) on mechanical ventilation, after bacterial pneumonia and after suction catheter-induced airway trauma. While most premature infants with pneumatoceles are managed conservatively, mechanical decompression may be necessary.(1-3) Prior descriptions of neonatal intensive-care management of pneumatoceles in premature infants are individual case reports. We report the case of a 1-month-old extremely premature infant with RDS and respiratory failure from superimposed respiratory syncytial viral pneumonitis, PIE, and an enlarging pneumatocele, which was successfully managed with a percutaneously placed pigtail catheter.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
12/39. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.A group of 13 patients with early onset diaphragmatic palsy in association with a progressive neuropathy is presented. All eight of those tested were found to have mutations in the same gene encoding the immunoglobulin mu-binding protein 2 (IGHMBP2) in patients with spinal muscular atrophy (SMA) with respiratory distress type 1. Six out of these eight patients had either homozygous or compound heterozygous mutations, and two had only a single heterozygous mutation. Detailed analysis of the clinical picture and the neurophysiological and histopathological findings indicated that these patients shared similar characteristics, which were further developed as a set of diagnostic criteria. Some of the most striking of these were early onset of respiratory compromise, a markedly low birth weight, very slow motor nerve conduction velocities and a general decrease in the size of myelinated fibres on sural nerve biopsy. Extensive histological examination of the spinal cord in one patient failed to find any evidence of an SMA. Four out of the five not tested genetically were positive for all diagnostic criteria. None of the cases of early onset neuropathies or spinal muscular atrophies with early respiratory failure reviewed in the literature shares the exact characteristics, but many do have very close similarities. Their classification varies, but the discovery of mutations in IGHMBP2 in cases that are variously classified as SMA plus or severe infantile neuropathy with respiratory distress points to a need for the search for this genetic defect to be widened to include both groups. The fact that we identified other, similar cases of neuropathy and early respiratory failure with and without IGHMBP2 mutations suggests genetic as well as clinical heterogeneity in these infants. It is possible that infants that do not have mutations in the IGHMBP2 gene will be found to have mutations in a similar functioning gene.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
13/39. Triply discordant triplets: probability, management options, and risks.The spontaneous occurrence of triplets is rare. With increased utilization of "assisted reproductive technologies," multifetal gestations have become more common. The empiric fetal risk for major malformation is approximately 3%. In a triplet pregnancy each fetus independently carries this risk so that the probability of having at least one malformed fetus is approximately 9%. It is much less likely to have 2 or 3 simultaneously but discordantly malformed fetuses in a multizygotic triplet gestation (.09% and .0027% risk, respectively). We report on the first case, to our knowledge, of an ovulation-stimulated triplet pregnancy complicated by 3-way discordance for major malformations diagnosed in the late second trimester by ultrasound. fetus A was affected by congenital diaphragmatic hernia and trisomy 21; fetus B had encephalocele, a midline facial defect, and a cleft palate; and fetus C had evidence of unilateral claw hand but an otherwise normal fetal survey. At 19 weeks of gestation, fetus A was found to have spontaneously died, and a selective termination of triplet B was performed. We conclude: (1) the finding of a single major malformation in one fetus should lead to extensive search for malformations in all members of the pregnancy, and (2) the simultaneous occurrence of major malformations in more than one member of a multifetal gestation is a circumstance under which multiple selective termination deserves consideration. In this article we discuss important issues and caveats in the performance of selective termination for abnormal members of multifetal gestations.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
14/39. Respiratory symptoms secondary to aortopulmonary collateral vessels in tetralogy of Fallot absent pulmonary valve syndrome.Hemodynamically significant systemic-to-pulmonary artery collaterals may represent an underappreciated cause of cardiorespiratory compromise in tetralogy of Fallot with absent pulmonary valve (TOF/APV). We retrospectively reviewed the angiographic, magnetic resonance imaging, operative, and autopsy reports of the 50 patients with TOF/APV managed at our institution in the past 10 years and demonstrated that at least 7 of 50 patients (14%) had significant aortopulmonary collaterals.- - - - - - - - - - ranking = 29.760276413315keywords = artery (Clic here for more details about this article) |
15/39. Congenital cystic adenomatoid malformation connected to an extralobar pulmonary sequestration in the contralateral chest: common origin?Extralobar pulmonary sequestration (ELS) and congenital cystic adenomatoid malformation have been reported to coexist in several variations. This suggests a common embryologic origin. A 6-month-old boy presented with a history of recurrent pneumonias. The patient was diagnosed with a right lower lobe congenital cystic adenomatoid malformation (CCAM) and a left lower lobe ELS/CCAM. The diagnosis was made with the aid of a multidetector computed tomography (CT). Three-dimensional CT reconstruction showed the presence of a right lower lobe CCAM, a left lower ELS with an aberrant arterial supply from the celiac axis, and possible venous drainage into the right CCAM. The patient underwent a right thoracotomy. Intraoperatively, the lesions were discovered to be connected by a band of tissue. The right lower lobe CCAM and the left ELS were removed from the right chest. Histologic analysis confirmed the presence of a CCAM within the right lower lobe. The ELS had involvement of a type II CCAM within the sequestration. The connection between the right CCAM and left ELS/CCAM showed an anomalous conducting airway, anomalous vein, and anomalous artery connecting the 2 lesions. The authors present the first case of a CCAM connected to an ELS/CCAM in the contralateral hemithorax. The unique anatomic configuration of these lesions suggests a common embryologic origin of ELS and CCAM.- - - - - - - - - - ranking = 29.760276413315keywords = artery (Clic here for more details about this article) |
16/39. Bilateral consolidation of the lungs in a preterm infant: an unusual central venous catheter complication.We describe a case of bilateral parenchymal consolidation with sudden respiratory distress in a preterm baby as a complication of peripherally inserted central catheter (PICC) dislocation. The x-rays showed bilateral pulmonary consolidation with the catheter tip initially located in the right, and later in the left pulmonary artery. The catheter was withdrawn. As soon as the catheter was repositioned all clinical signs and symptoms disappeared. Neonatologists should consider the possibility of dramatic respiratory distress deriving from PICC dislocation. Careful tip catheter placement and conscientious monitoring may reduce morbidity.- - - - - - - - - - ranking = 29.760276413315keywords = artery (Clic here for more details about this article) |
17/39. holoprosencephaly--report of two cases.holoprosencephaly (HPE) is a developmental defect resulting from incomplete cleavage of the embryonic forebrain structures during early embryogenesis. It includes a series of rare complex disorders. Chromosomal abnormalities, single gene disorders and teratogenic agents are responsible for holoprosencephaly. We report two rare cases of alobar HPE with a rudimental nasal structure (proboscis) located under the eyes. One of the patients survived for 9 months and the other one survived 40 days.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
18/39. Thoracoabdominal aortic aneurysm associated with umbilical artery catheterization: case report and review of the literature.Aneurysms in infants and children are rare and are usually associated with cardiovascular malformations or connective tissue disorders. A new subgroup of patients has become recognized over the past two decades--those with aneurysms associated with umbilical artery catheterization. Critically ill newborns who have required umbilical artery catheterization and have developed sepsis, usually staphylococcal, are at risk for the development of mycotic aneurysm disease of the aorta or its major branches or both. Since first described in 1970, 34 cases have been reported in the literature, 14 involving the descending thoracic aorta, 10 the abdominal aorta, 6 the iliac arteries, and 4 either the thoracoabdominal aorta or multiple aneurysms involving both the thoracic and abdominal aorta. This report presents a case we recently treated of a 15-month-old-boy with a large thoracoabdominal aortic aneurysm and aneurysms of the infrarenal abdominal aorta and proximal right common iliac artery. It includes a review of the recent literature to analyze pathogenesis, clinical manifestations, and to formulate methods of treatment.- - - - - - - - - - ranking = 208138.8222419keywords = umbilical artery, umbilical, artery (Clic here for more details about this article) |
19/39. The rare occurrence of absent adrenals in a term infant: a case report and review of the literature.A female infant (gestational age, 37 weeks) presented with respiratory distress and pulmonary hypertension. Incidental to her clinical course, she was discovered by abdominal ultrasound to have absent adrenal glands bilaterally. This is the first case report of congenitally absent adrenal glands noted at birth. The exons of the patient's SF-1 gene were sequenced, and despite identifying a single nucleotide polymorphism that preserves proline at position 125 of SF-1, none of the previously identified mutations were detected in our samples. The known role of SF-1 and its mutations in adrenal gland development are discussed.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
20/39. Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress.CONTEXT: We studied two sisters with congenital hypothyroidism and choreoathetosis but not respiratory distress. OBJECTIVE: The aim of this study was to establish the genetic defect that causes this phenotype and study the molecular mechanisms of the pathology by means of functional analysis. DESIGN: Sequencing of dna, expression vectors generation, EMSAs, transfections experiments as well as bioinformatics analysis were performed. RESULTS: We found a new single deletion (825delC) in one allele of the TITF1/NKX2.1 gene. The mutation located in the C-terminal domain generates a nonsense thyroid transcription factor 1 (TTF1) protein, with 22 amino less and rich in positive charges. This protein shows diminished binding to dna, does not interfere with wild-type (wt) TTF1 binding, and fails to activate reporter genes harboring the thyroglobulin (Tg), thyroperoxidase (TPO), or surfactant protein B (SP-B) promoters. In addition, the mutant (mut) protein has a dominant-negative effect on the transcriptional activity of wt TTF1 in a promoter-specific manner, inhibiting the transcription of Tg and TPO but not of SP-B. Using a Gal4 reporter system, we demonstrate that the mut protein is not transcriptionally active and does not likely compete with the wild type for coactivators. Interestingly, the mut protein impairs the wt capacity to synergize with paired box 8 (PAX8). This cooperation is necessary for Tg and TPO transcription but dispensable for SP-B expression. CONCLUSION: These results are concordant with the phenotype of the two sisters studied and demonstrate a differential role for TTF1 in the different tissues in which it is expressed.- - - - - - - - - - ranking = 5keywords = single (Clic here for more details about this article) |
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