1/16. phenobarbital dosing and pharmacokinetics in a neonate receiving extracorporeal membrane oxygenation.OBJECTIVE: To describe the dosing and pharmacokinetics of phenobarbital in a neonate receiving extracorporeal membrane oxygenation (ECMO). CASE SUMMARY: The treatment of a 2.6 kg, 38-week gestational age boy with congenital diaphragmatic hernia who developed seizures while receiving ECMO support is described. A loading dose of 20 mg/kg resulted in concentrations of 16.4 and 12.9 micrograms/mL at 3 and 24 hours, respectively. A maintenance dose of 5 mg/kg/d provided a peak concentration of 19.7 micrograms/mL and trough concentration of 16.7 micrograms/mL after four doses. The calculated volume of distribution was 1.2 L/kg and the estimated elimination half-life was 92 hours. serum concentrations decreased after circuit changes unless the new circuit was redosed. DISCUSSION: The reported incidence of seizures in neonates while receiving ECMO support is 18%. Despite this frequency, there are no clinical reports describing anticonvulsant use in this population. This case demonstrates the use of standard phenobarbital doses to achieve low, but therapeutic, serum concentrations. Pharmacokinetic analysis revealed a volume of distribution slightly larger than expected in neonates and an elimination half-life similar to published values. Altering circulating blood volumes resulted in significant reductions in serum concentrations. CONCLUSIONS: Neonates on ECMO may have a larger volume of distribution than neonates not receiving ECMO and may require larger phenobarbital doses to achieve desired serum concentrations. This may result from the presence of large exogenous blood volumes for priming, as well as loss of drug during circuit changes, extraction by the circuit, or hemofiltration. Further work is needed to better define the pharmacokinetics and pharmacodynamics of phenobarbital in the neonatal ECMO population.- - - - - - - - - - ranking = 1keywords = extraction (Clic here for more details about this article) |
2/16. A fatal case of apparent water hemlock poisoning.A 14-y-o North American native boy died 20 h after ingesting "wild carrot". He was gathering edible plants with his family on Canadian Thanksgiving. A sample of the plant he ingested couldn't be positively identified but it contained cicutoxin on chromatography. Bioassay caused death in mice which demonstrated clinical signs similar to water hemlock (cicuta maculata) poisonings. Cicutoxin could not be demonstrated in postmortem tissue or gastric lavage. The boy's clinical signs and laboratory tests were consistent with other reported cases of this poisoning.- - - - - - - - - - ranking = 326.14198320767keywords = chromatography (Clic here for more details about this article) |
3/16. Extraction as a treatment alternative follows repeated trauma in a severely handicapped patient.Handicapped patients with protruding maxillary incisors are prone to repeated dental trauma. A 13-year-old girl with cerebral palsy, severe mental retardation and seizure disorder was referred to our department for restoring the traumatized anterior teeth. Despite drug combination, the frequency of seizure attack was around 10 times a month. The oral examination showed multiple caries, gingival hyperplasia, class II malocclusion with 14 mm overjet and deep overbite. During the first 3 years of a 7-year follow-up period, six episodes of anterior tooth trauma due to seizure attack occurred. The trauma-related treatment performed included endodontic therapy, multiple composite restorations, apical repositional flap, and finally extraction of all four upper incisors with fabrication of a semi-fixed band-retained denture. The denture restored normal overbite and overjet with improved esthetics. For 4 years following the fabrication of denture, no trauma occurred to the anterior teeth in later seizure attacks. Considering inadequate control of seizure disorder, little ability of the patient to receive comprehensive orthodontic treatment, poor prognosis of restorations, and possible future injuries, the removal of non-functional, nonesthetic, trauma-susceptible incisor teeth can be justified as an alternative to tooth preservation.- - - - - - - - - - ranking = 1keywords = extraction (Clic here for more details about this article) |
4/16. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.BACKGROUND: Subcortical band heterotopia (SBH) is a neuronal migration disorder. DCX mutations are responsible for almost all familial cases, 80% of sporadic female cases, and 25% of sporadic male cases of SBH, and are associated with more severe gyral and migration abnormality over the anterior brain regions. Somatic mosaicism has previously been hypothesized in a patient with posteriorly predominant SBH and a mutation of the LIS1 gene, which is usually mutated in patients with severe lissencephaly. The authors identified mosaic mutations of LIS1 in two patients (patients 1 and 2) with predominantly posterior SBH. methods: After ruling out DCX mutations, the authors performed sequencing of the LIS1 gene in lymphocyte dna. Because sequence peaks in both patients were suggestive of mosaic mutations, they followed up with denaturing high-pressure liquid chromatography analysis on blood and hair root dna and compared the areas of heteroduplex and homoduplex peaks. A third patient showing the same mutation as Patient 2 but with no evidence of mosaicism was used for comparing the phenotype of mosaic vs full mutation. RESULTS: The two patients with posterior SBH harbored a missense (Arg241Pro) and a nonsense (R8X) mosaic mutation of LIS1. The rate of mosaicism in Patient 1 was 18% in the blood and 21% in the hair roots, whereas in Patient 2 it was 24% and 31% in the same tissues. The patient with a full R8X mutation of LIS1 had severe lissencephaly. CONCLUSIONS: Subcortical band heterotopia can occur with mosaic mutations of the LIS1 gene. mutation analysis of LIS1, using highly sensitive techniques such as denaturing high-pressure liquid chromatography, should be considered for patients with posteriorly predominant subcortical band heterotopia and pachygyria.- - - - - - - - - - ranking = 652.28396641533keywords = chromatography (Clic here for more details about this article) |
5/16. Contralateral cerebral infarction following vacuum extraction.cerebral infarction is a rare complication following a vacuum-assisted delivery occurring on the side of the vacuum application and often accompanied by a cephalhematoma. We report a case of cerebral infarction that was contralateral to the side of the vacuum application in a term baby. The baby presented with seizures in the immediate neonatal period. There was no fracture of the skull to account for a contusion injury. We discuss the mechanisms of intracranial vascular injuries during the process of natural and assisted birth.- - - - - - - - - - ranking = 4keywords = extraction (Clic here for more details about this article) |
6/16. urolithiasis associated with topiramate.OBJECTIVE: Topiramate is a sulfamate-substituted monosaccharide anticonvulsant used as adjunctive therapy for intractable refractory seizures. It is report a case of topiramate-induced urolithiasis. CASE REPORT: A 35-year-old man presented with acute, right-sided, colicky flank pain. He denied hematuria or dysuria. He was in use of phenytoin, risperidone, phenobarbital, and topiramate. The total daily dose of topiramate was 375 mg. A CT scan showed a 7 x 1 mm curvilinear density at the right ureterovesical junction with proximal hydrouretronephrosis. He was managed with rigid ureteroscopic stone extraction and the calculus metabolic analysis revealed the stone was composed of carbonate apatite (70%), calcium oxalate dihydrate (20%), and calcium oxalate monohydrate (10%). COMMENTS: The present case typifies many features of topiramate-induced urolithiasis. Those who care for patients with urinary stone disease should be aware of this association.- - - - - - - - - - ranking = 1keywords = extraction (Clic here for more details about this article) |
7/16. Neonatal seizures associated with maternal hydroxyzine hydrochloride in late pregnancy.This is the first report of a neonatal withdrawal syndrome associated with maternal hydroxyzine treatment (150 mg/day) confirmed by measurements of hydroxyzine plasma concentrations in the mother and infant after birth. hydroxyzine plasma concentrations were measured by liquid chromatography-mass spectrometry. Neurological symptoms with low neonatal concentrations of hydroxyzine may be due to a withdrawal syndrome. According to previous observations and this case report, clinicians should be warned of this possible rare neurological complication of hydroxyzine in neonates born from long term treated mothers.- - - - - - - - - - ranking = 326.14198320767keywords = chromatography (Clic here for more details about this article) |
8/16. Double concentric craniotomy for a craniocerebral penetrating nail. Case report and technical note.BACKGROUND: Craniocerebral penetrating injuries from nail-gun accidents are rare and usually are discovered immediately after the trauma. Several surgical procedures have been described to extract a foreign body that is infixed in the skull and has penetrated the surrounding structures; blind extraction, craniectomy, and craniotomy. CASE DESCRIPTION: We report the case of a 25-year-old ex-carpenter who presented with jacksonian seizure at the left limb. Plain radiography of the skull revealed the unexpected presence of a nail hammered in the right parietal bone, penetrating the underlying structures of the frontoparietal area up to a depth of 3 cm. The patient was operated on; a small craniotomy (1 x 1 cm) just around the head of the nail, and a concentric larger frontoparietal bone flap, involving the first craniotomy, were performed. The larger bone flap was elevated first, whereas the small bone flap with the nail infixed was carefully elevated along the axis of the nail, under direct vision of the nail tract. CONCLUSIONS: Double concentric craniotomy is the only technique that permits the removal of a foreign body that has penetrated both the skull and the brain, under direct vision, without transmitting any undue forces to the underlying structures. With this technique, control of bleeding can also be easily achieved.- - - - - - - - - - ranking = 1keywords = extraction (Clic here for more details about this article) |
9/16. Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of rett syndrome.The CDKL5 gene has been implicated in infantile spasms and more recently in a rett syndrome-like phenotype. We report a case of a young girl presenting generalized convulsions at 10 days of life. Subsequent mutation analysis by denaturing high-performance liquid chromatography of MECP2 and CDKL5 genes revealed heterozygosity for a c.47_48insAGG insertion in exon 1 of MECP2 and heterozygosity for a new nonsense mutation p.Q834X and a new missense variant p.V999M in the CDKL5 gene. Co-segregation analysis showed that the nonsense mutation was a de novo mutation and that the insertion and the missense variant were also found in the asymptomatic mother. In the absence of skewed X inactivation in the mother, it is likely that these last two variants are not pathogenic. reverse transcription-polymerase chain reaction from lymphoblastoid cells of the patient showed only the transcript without the nonsense and missense variations suggesting decreased stability of mature mRNA by nonsense-mediated decay. These data also suggest an occurrence of the de novo mutation in maternal germ line cells. Moreover, this report reinforces the observation that the CDKL5 phenotype overlaps with rett syndrome and that CDKL5 gene analysis is recommended in females with a seizure disorder commencing in the first weeks of life.- - - - - - - - - - ranking = 326.14198320767keywords = chromatography (Clic here for more details about this article) |
10/16. Impairment of the protein c anticoagulant pathway in a patient with systemic lupus erythematosus, anticardiolipin antibodies and thrombosis.We have identified an inhibitor of the protein c anticoagulant pathway in the plasma of a patient with systemic lupus erythematosus and a history of recurrent deep vein thrombosis, fetal wastage, and seizures. The patient's plasma contained anticardiolipin antibodies as well as a weak lupus anticoagulant. Examination of this patient's plasma revealed normal levels of protein c and protein s antigen, normal levels of functional protein c, as well as essentially normal levels of every blood coagulation factor. In a modified prothrombin time assay, the activated protein c-mediated prolongation of the clotting time observed in normal plasma was not observed in this patient's plasma. Gel permeation chromatography of the patient's plasma revealed that the inhibitory material was a high molecular weight protein that coeluted with the IgM peak. The inhibitor did not appear to circulate as a complex with protein c, since the inhibitor could easily be separated from protein c during fractionation procedures, and did not interfere with the activation of protein c in plasma as assessed by a functional amidolytic assay. Our findings suggest that the recurrent thrombotic episodes observed in this patient may have occurred as a result of the patient's antiphospholipid antibody neutralizing specific phospholipids essential for the full expression of the anticoagulant activity of activated protein c.- - - - - - - - - - ranking = 326.14198320767keywords = chromatography (Clic here for more details about this article) |
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