3-Methylglutaconic aciduria: a new metabolic disorder associated with early onset optic atrophy.
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Age of Onset↗
Biomedical subjects
R Straussberg
Publications and source records attributed to R Straussberg.
Tethered cord syndrome presenting as a nonhealing cutaneous ulcer.
The usual clinical presentations of tethered cord syndrome include pain in the lumbosacral region, gait difficulty, weakness, and bladder abnormalities. We describe an unusual presentation of tethered cord - a nonhealing gluteal ulcer in an anesthetic cutaneous territory supplied by the S2-4 segments. Unexplained cutaneous lesions may be the presenting sign of an underlying neurological condition.
Adolescent↗
Effect of oral chemotherapy on the mitochondrial size of mouse intestinal cells.
Since orally given cytotoxic agents may cause intestinal disfunction, the effect of oral administration of three cytotoxics, i.e., methotrexate (MTX), cyclophosphamide (CPA), and ftoral, a derivative of 5-fluorouracil (5-FU), on the gastric, liver, and small-intestine cells of C57B1 mice was studied by transmission electron microscopy. Although no ultrastructural alterations could be detected in the cells of the first two organs, the epithelial cells of the small intestine showed a marked increase in size of their mitochondria. In the control animals the mitochondrial size was in the range of 0.04-1.8 micron (mean +/- SE 0.54 +/- 0.01 micron). In the treated animals the size of the mitochondria ranged between 0.15 and 4.33 micron (mean +/- SE 0.73 micron) for those treated with MTX, 0.24-2.88 micron (mean +/- SE 0.80 +/- 0.02 micron) for those given CPA, and 0.28-5.3 micron (mean +/- SE 1.18 +/- 0.48 micron) for those treated with 5-FU. These findings were significantly different from those obtained in controls (P < 0.0001). In addition, in animals treated with MTX the mitochondria of the jejunal cells were surrounded by channels of rough endoplasmic reticulum. The cytoplasm contained long, winding channels of smooth endoplasmic reticulum, vacuoles, and myelin figures. Fluid retention in the small intestine due to administration of cytotoxic drugs is suggested as a possible mechanism for distention of the mitochondria.
Administration, Oral↗
Epileptic blindness in children: a localizing sign of various epileptic disorders.
UNLABELLED: The ictal manifestations, EEG, CT, and MRI correlates, as well as the management and outcome of 11 children with epileptic blindness are presented. Seven males and four females, aged 3 months to 12 years, experienced single or recurrent episodes of acute visual obscuration. Ictal blindness was the solitary epileptic phenomenon in only two children. The rest had other focal or generalized motor epileptic manifestations. Six children had either focal motor phenomena and/or unilateral EEG disturbances, with a normal head CT. The drug of choice in this group was carbamazepine and all became asymptomatic. Two patients had structural abnormalities of the brain, of which one had a low-grade occipital astrocytoma which was resected. His blindness abated shortly following initiation of carbamazepine, even prior to surgery. Status epilepticus amauroticus and focal motor seizures, secondary to focal cortical dysplasia, was detected in another 3-month-old infant. These required cortical resection and she regained full vision. Three patients had generalized epileptiform discharges on EEG, of which two were photic-induced. Blindness was accompanied with motor seizures and myoclonic jerks. Full seizure control could be achieved in only one child. CONCLUSION: our data suggest a relatively benign nature and a favorable outcome in most children with ictal blindness. Resection of a secondary temporo-parietal focus, as occurred in an infant with status epilepticus amauroticus which originated in the occipital region, may result in complete cessation of seizures and visual recovery.
Blindness↗
Evaluation of a rapid enzyme immunoassay for the detection of herpes simplex virus antigen in children with herpetic gingivostomatitis.
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Antibodies, Viral↗
A new autosomal recessive syndrome of pachygyria.
Pachygyria is a rare development disorder resulting from impaired neuronal migration. Usually, it is a sporadic phenomenon, but rare dominant or autosomal recessive syndromes are known. This report describes a family in which the parents are first cousins and three of the siblings suffer from moderate mental retardation, pachygyria and strabismus. It is suggested that this is a distinct type of autosomal recessive pachygyria.
Abnormalities, Multiple↗
Effect of dexamethasone on IL-2 and IL-3 production by mononuclear cells in neonates and adults.
The effect of dexamethasone on interleukin 2 (IL-2) and interleukin 3 (IL-3) production by mononuclear cells in preterm and term infants and adults was evaluated. The capacity of mononuclear cells to produce these cytokines, in preterm infants with bronchopulmonary dysplasia (BPD) and treated with dexamethasone, was compared with that before treatment. Twenty six preterm and 36 term neonates and 24 healthy adults were included in the study. Mononuclear cells isolated from neonatal cord blood (CBMC) and adult peripheral blood (PBMC) were stimulated with phytohaemagglutinin (PHA) in the absence or presence of dexamethasone at concentrations between 10(-8)M and 10(-5)M. IL-2 and IL-3 activities in the supernatant fluids were tested using bioassays. The in vivo effect of the drug on the production of these cytokines by PBMC in 10 preterms was determined before and 24 hours after dexamethasone administration (0.5 mg/kg/day). The production of both cytokines was inhibited in a dose dependent manner. A difference in the sensitivity of mononuclear cells to the inhibitory effect of the drug was found between neonatal cord blood cells and adult PBMC, the former being more sensitive. PBMC from preterm infants treated with dexamethasone for BPD produced significantly less IL-2 and IL-3 as early as 24 hours after the initiation of the treatment (43% and 31%; P < 0.05, respectively). It is concluded that mononuclear cells from preterm and term neonates are more sensitive to the inhibitory effect of dexamethasone on IL-2 and IL-3 production.
Adult↗
Human colostrum stimulates cytokine production.
The effect of human colostrum on the production of IL-1, IL-3 and IL-6 by peripheral blood mononuclear cells (PBMCs) has been investigated. The aqueous phase of human colostrum significantly stimulated the production of these three cytokines. These findings show the importance of breast feeding not only as a well-balanced nutrient supply but also as a source for growth-promoting factors. It is suggested that the enhanced secretion of IL-1, IL-3 and IL-6 induced by human colostrum may compensate for the lower capacity of neonatal PBMCs to produce these cytokines. It is also possible that, by stimulating the secretion of these cytokines, breast feeding may provide an additional mechanism for the regulation of the neonatal immune system and hematopoiesis.
Colostrum↗
Parental presence during lumbar puncture: anxiety and attitude toward the procedure.
We evaluated the anxiety state of 57 parents whose children required lumbar puncture (LP) as part of a diagnostic workup. We also examined parental attitude about their presence during the procedure. The parents were randomly divided into two groups: 29 (51%) were present during the LP (group A) and 28 (49%) remained outside (group B). There were no differences in the anxiety scores between the two groups. All parents in group A and seven in group B (25%) reported a preference for staying with the child should he/she need LP in the future. The results also showed that allowing the parents to be present during LP does not aggravate their anxiety compared with controls.
Adult↗
Serum-sickness-like reaction associated with minocycline therapy in adolescents.
OBJECTIVE: To describe a serum-sickness-like reaction in five adolescents treated with minocycline. CASE SUMMARY: Five adolescents developed a rash and arthralgias/arthritis after taking minocycline for 10-30 days. Symptoms resolved gradually after the medication was stopped. DISCUSSION: Serum sickness is not described in the pharmacology literature as an adverse effect of minocycline, and in the English literature there are only two case reports. The migration inhibitory factor assay and mast cell degranulation test were positive in four of the five patients. The results of these assays were consistent with a role for minocycline in causing these reactions. CONCLUSIONS: Clinicians should be aware of the possibility of serum-sickness-like reaction as an adverse effect of minocycline.
Adolescent↗
The effect of acyclovir on the proliferative capacity of mononuclear cells from patients with chronic lymphocytic leukemia.
The cellular response of peripheral blood mononuclear cells (PBMC) from patients with B-cell chronic lymphocytic leukemia to increasing doses of acyclovir was examined by their capacity to incorporate 3H-TdR, and their response to phytohemagglutinin, concanavalin A and pokeweed mitogen. PBMC from healthy donors served as controls. Acyclovir caused a dose-dependent inhibition of 3H-TdR incorporation and mitogenic response in both leukemic and control cells, the effect on the latter being more pronounced. Although the results suggest that leukemic cells are less vulnerable than the controls, the toxic effect of acyclovir on the cellular immune response should be considered in the treatment of leukemic and other immunosuppressed patients.
Acyclovir↗
Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family.
A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. "Idiopathic" hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unusually early and severe manifestations of DMD in this patient may be related to the coincidental inheritance of the maternal DMD gene and of a paternal gene, causing hyperCKemia.
Base Sequence↗
Effect of human colostrum on interleukin-2 production and natural killer cell activity.
The effect of human colostrum on the production of interleukin-2 (IL-2) and on natural killer (NK) cell activity by peripheral blood mononuclear cells (PBMC) was investigated in 50 healthy women. At concentrations as low as 0.5%, human colostrum stimulated IL-2 production; at a higher concentration (10%), IL-2 secretion was inhibited. A time and dose dependent inhibitory effect of colostrum on NK cytotoxicity was also observed. This inhibition could be reversed by the addition of human recombinant IL-2 (hrIL-2). The stimulation of IL-2 production induced by human colostrum might compensate for its inhibitory effect on NK cell activity. These findings suggest an additional mechanism by which breast feeding may affect the neonatal immune system.
Colostrum↗
Phagocytosis-promoting factor in human colostrum.
The effect of colostrum of mothers of preterm and full-term newborns on the phagocytic activity for latex particles by normal peripheral blood polymorphonuclear cells was examined. The results showed that human colostrum contains a phagocytosis-promoting factor(s), which not only increases the number of phagocytic cells, but also stimulates the phagocytic activity of the individual cell. This factor(s) was more active in preterm colostrum. Thus, while term colostrum increased the number of phagocytic cells by 95% in comparison with the control, preterm colostrum enhanced the number of phagocytic cells by 300%. Similarly, term colostrum increased the phagocytic capacity of the individual cell by 51%, whereas preterm colostrum by 137%. The difference between the results in all experimental points was statistically highly significant.
Blood Proteins↗
Melkersson-Rosenthal syndrome.
Four patients with recurrent upper lip and facial swelling and lingua plicata together with peripheral facial nerve palsy involvement were diagnosed as having Melkersson-Rosenthal syndrome. Because of the rarity of this syndrome in children, we present the results of follow-up evaluations of our patients and review the literature.
Child↗
Embedded earrings.
Techniques used to pierce ears include needles, safety pins, sharpened studs, self-piercing kits, and spring-loaded guns. The spring-loaded gun requires minimal personnel training and because it is easy to use, it has a widespread popularity. We report twenty-six cases of embedded earrings following ear piercing with the spring-loaded gun.
Child↗
Headaches in children younger than 7 years: are they really benign?
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Child↗
The reliability of midstream urine culture from circumcised male infants.
The reliability of midstream urine culture from circumcised male infants was studied in 60 infants aged 1 to 21 weeks. A midstream urine specimen was collected after cleansing the penis. When the bladder was full again, a suprapubic bladder aspiration (SPA) was also performed. The results of the urine cultures were almost identical in specimens obtained midstream and by SPA. In 37 infants the cultures were sterile and in 13 positive, with the same microorganism being cultured in both instances. In one case, few colonies of Staphylococcus epidermidis grew only from the midstream culture. In nine infants, only midstream specimens were obtained because three attempts at SPA were unsuccessful. These results suggest that in circumcised male infants, the midstream method of obtaining urine for a culture is as reliable as SPA.
Circumcision, Male↗