Cases reported "Syndrome"

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1/436. Increased sister chromatid exchange in bone marrow and blood cells from Bloom's syndrome.

    Bone-marrow cells from a patient with Bloom's syndrome cultured for 48 h in the presence of BudR exhibited a striking increase in the number of sister chromatid exchanges (SCEs) in comparison to that in the marrow cells of a patient with treated polycythemia vera (PV). Thus, it appears that an increased incidence of SCE in Bloom's syndrome occurs in various differentiated types of cells, not just blood lymphocytes, and constitutes the syndrome's most characteristic cytogenetic feature. In contrast, the incidence of SCE was not increased in marrow cells and lymphocytes of the particular PV patient studied here, whose cells did exhibit increased numbers of chromatid and chromosome gaps and breaks, presumably as result of the patient's earlier treatment. An increased frequency of SCE was demonstrated in Bloom's syndrome lymphocytes using both a technique based on BudR incorporation and one based on labeling with tritated deoxycytidine. This observation constitutes evidence against the increase of SCE being due to an unusual reaction to BudR. By conventional cytogenetic techniques, chromosome instability, including chromatid and chromosome breaks, but no homologous chromatid interchanges were also recognized in Bloom's syndrome bone-marrow cells incubated in vitro (without BudR) for either 1.k or 16 h. This observation points to the existence of chromosome instability in vivo.
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2/436. Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient.

    A white Italian boy, aged 5 years and 8 months, is reported with failure to thrive, hypotonia, truncal ataxia, psychomotor retardation, and congenital horizontal pendular nystagmus with only waves I and II on auditory brainstem responses. Our patient's clinical picture resembles that previously reported in 10 male Oriental patients. He did not manifest spastic diplegia by the age of 2 years, as did the subjects reported in the literature, but knee-jerk hyperreflexia was evident at the most recent clinical reevaluation. Serial brain MRI studies revealed a cystic brain lesion and peritrigonal hyperintensities with no brainstem abnormalities. To date, no other child with a similar syndrome has been described either in europe or in America. The clinical features of this condition are consistent and characteristic. A definitive diagnosis is achieved by demonstrating the absence of all waves following wave I or wave II on auditory brainstem responses as early as 3 months of age. Due to the predominance of males, the occurrence in siblings, the early age at onset, the non-progressive course, and the characteristic auditory brainstem response findings, the syndrome may have a genetic origin and be attributable to a dysgenetic brainstem lesion.
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ranking = 9.3809360195984
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3/436. plasma exchange in Rasmussen's encephalitis.

    The authors observed a 4-year-old girl who has Rasmussen's encephalitis. She started with frequent localized and generalized seizures. Standard antiepileptic treatment was almost ineffective. The frequency of the generalized seizures decreased, but the myoclonic jerks of the left part of the body persisted. An EEG showed partial status epilepticus. The results of the CT scan were normal. antibodies to viruses were absent from the blood and cerebrospinal fluid. An MR scan showed a T2-weighted hypersignal zone in the right frontal region. Intravenous bolus injections of corticosteroids and drips of immunoglobulins were inefficient, and we started plasma exchanges which have continued for 9 months. The clinical state stabilized, and the images on the MR scan improved, but the results of the EEG did not improve. The authors discuss the effect of the plasma exchange, the use of which is questionable in this disease.
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4/436. Intestinal blind pouch- and blind loop- syndrome in children operated previously for congenital duodenal obstruction.

    A follow-up study of 27 children operated for congenital duodenal obstruction (CDO) in the years 1953--71 is presented. Nine children belonged to the intrinsic and 18 children to the extrinsic group of CDO. A total of 7 retrocolic, isoperistaltic, side-to-side duodeno-jejunostomy, 7 Ladd's operation, 8 duodenolysis, 2 reduction of midgut volvulus, 2 duodenostomy a.m. Morton and one gastro-jejunostomy were performed at the age of 1 day--15 years. The clinical and radiological examinations were performed 3--21 years (mean 10 years 2 months) after these operations. In 3 cases there was a moderate duodenal dilatation, but reoperation was not necessary. During the follow-up period, one boy, now aged 8 years, developed a blind pouch-syndrome in the I portion of the duodenum containing a 5 x 5 cm phytobezoar 4 1/2 years after duodeno-jejunostomy. The frequency of blind pouch-syndrome after duodeno-jejunostomy was thus 1:7 or 14%. One girl, now aged 9 years, developed a blind loop-syndrome in the ileocaecal segment 3 months after side-to-side ileotransversostomy, which was performed from adhesion-obstruction after duodenolysis for malrotation I and CDO. Both the blind pouch- and the blind loop-deformation were resected and the children recovered well. To avoid blind-pouch- and blind loop-deformations in the intestines, the anastomosis must be made wide enough, and especially in the surgery of the jejuno-ileo-colic region an end-to-end anastomosis is preferable.
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5/436. Laugier-Hunziker syndrome: case report and treatment with the Q-switched Nd-Yag laser.

    We report the case of a 46-year-old Caucasian female presenting with mucocutaneous pigmentation on the lips, oral mucosa, hands, feet and nails, as well as on a psoriatic plaque. She was successfully treated with Q-switched Nd-Yag laser, with double frequency, for both the mucosal and cutaneous lesions.
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6/436. Increased occurrence of cleft lip in glycogen storage disease type ii (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.

    Genetic deficiency of lysosomal acid alpha-glucosidase (acid maltase) results in the autosomal recessive disorder glycogen storage disease type ii (GSDII) in which intralysosomal accumulation of glycogen primarily affects function of skeletal and cardiac muscle. During an earlier review we noted 3 in 100 cases of GSDII with incidental description of cleft lip. In addition, we identified 2 of 35 GSDII patients referred to us for molecular studies with co-occurence of cleft lip, considerably greater than the estimated frequency of nonsyndromic cleft lip with or without cleft palate of 1 in 700 to 1,000. Because several lines of evidence support a minor cleft lip/palate (Cl/P) locus on chromosome 17q close to the locus for GSDII, we defined the molecular basis for the GSDII in these two patients to determine if they represented a contiguous gene syndrome. Patient I (of Dutch descent) was homozygous and the parents heterozygous for an intragenic deletion of exon 18 (deltaex18), common in Dutch patients. Patient II was heterozygous for delta525T, a mutation also common in Dutch patients and a novel nonsense mutation (172 [corrected] C-->T; Gln58Stop) in exon 2, the first coding exon. The mother was heterozygous for the delta525T and the father for the 172 [corrected] C-->T; Gln58Stop. The finding that both patients carried intragenic mutations eliminates a contiguous gene syndrome. Whereas the presence of cleft lip/cleft palate in a patient with GSDII could be coincidental, these co-occurences could represent a modifying action of acid alpha-glucosidase deficiency on unlinked or linked genes that result in increased susceptibility for cleft lip.
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7/436. The effect of growth hormone treatment on stature in Aarskog syndrome.

    We describe 19 males with Aarskog syndrome who were treated with growth hormone (GH) and enrolled in the National Cooperative Growth Study (NCGS). There was a significant increase in both growth rate (3.9 /- 1.9 cm/yr vs 8.9 /- 1.7 cm/yr, p < 0.001) and height SD score (change in HtSDS = 1.0 /- 0.8). The increase in HtSDS was dependent on treatment duration, frequency of injections, weight-for-height SDS, and HtSDS at enrollment. The results of our study suggest a positive effect of GH treatment on growth and adult height in Aarskog syndrome patients.
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8/436. Analysis of heart rate variability during head-up tilt testing in a patient with idiopathic postural orthostatic tachycardia syndrome (POTS).

    A 16-year-old boy was diagnosed with idiopathic postural orthostatic tachycardia syndrome (POTS) during head-up tilt testing. During a passive tilt, the patient's heart rate (HR) increased by 30 beats/min within 5 min. After 25 min of tilting, his HR further increased to 133 beats/min and he began to complain of lightheadedness and weakness without hypotension. Power spectral analysis of HR variability during the tilt test revealed that the ratio of low and high frequency powers increased with the onset of orthostatic intolerance. propranolol (10mg every morning) dramatically alleviated his clinical symptoms, and he has been asymptomatic with gaining weight after discontinuing his crowded train commuting.
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9/436. Nonconvulsive status epilepticus in a child with congenital bilateral perisylvian syndrome.

    A 9-year-old male with congenital bilateral perisylvian syndrome is described. He had pseudobulbar palsy, mental retardation, and intractable epilepsy. Computed tomography and magnetic resonance images of the brain demonstrated bilateral perisylvian malformations and a diffuse pachygyric appearance. At 8 years of age, he had episodes of excessive drooling, fluctuating impairment of consciousness, unsteady sitting, and frequent head drop that lasted several days. The electroencephalogram demonstrated continuous diffuse slow spike and waves. These findings suggested atypical absence status epilepticus. Intravenous administration of diazepam resulted in transient improvement of clinical and electroencephalographic findings. status epilepticus recurred within several minutes after diazepam administration. Although no patient has been reported to have a history of status epilepticus among those affected by this syndrome, it seems that atypical absence status can occur more frequently than expected, as seen in Lennox-Gastaut syndrome. After recognition and confirmation of nonconvulsive status epilepticus, immediate treatment must be attempted.
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ranking = 2.3452340048996
keywords = wave
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10/436. Myoclonic status epilepticus following high-dosage lamotrigine therapy.

    An 8-year-old girl with Lennox-Gastaut syndrome showed a partial reduction in seizure frequency when lamotrigine (LTG), 15 mg/kg per day, was added to clobazam (CLB) and vigabatrin (VGB). An increase in LTG dosage to 20 mg/kg per day produced no further improvement and was followed by myoclonic status epilepticus. The condition developed insidiously and ultimately became stable. Video-EEG polygraphy and jerk-locked back-averaged EEG demonstrated continuous myoclonus of cortical origin. Discontinuation of LTG resulted in rapid disappearance of clinical and electrophysiological manifestations of myoclonic status epilepticus. No episodes of myoclonus occurred in the subsequent 2 years, during which CLB and VGB were kept unchanged. The striking response to drug discontinuation suggests that LTG may have played a role in the precipitation of status, possibly within the context of paradoxical intoxication.
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