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Biomedical subjects

D Soffer

Publications and source records attributed to D Soffer.

At least 19 recordsLinked to original sources
PubMed1998

SMA type 2 unrelated to chromosome 5q13.

We describe two brothers with clinical and histological findings of type 2 spinal muscular atrophy (SMA) associated with small head circumference (<2%) and normal cognitive development. No survival motor neuron (SMN) or neuronal apoptosis-inhibitory protein (NAIP) deletions were detected in these sibs, and they were discordant for the haplotypes determined by DNA markers flanking the 5q13 SMA locus. These findings support the presence of a distinct anterior horn disease unrelated to 5q13. This entity may have either autosomal recessive or X-linked inheritance.

Child, Preschool↗
PubMed1998

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.

Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that, in contrast to APBD, is an early childhood disorder with primarily systemic manifestations. Recently, the GBE cDNA was cloned and several mutations were characterized in different clinical forms of GSD IV. To examine whether mutations in the GBE gene account for APBD, we studied 7 patients from five Jewish families of Ashkenazi ancestry. The diagnosis was based on the typical clinical and pathological findings, and supported by reduced GBE activity. We found that the clinical and biochemical APBD phenotype in all five families cosegregated with the Tyr329Ser mutation, not detected in 140 controls. As this mutation was previously identified in a nonprogressive form of GSD IV and was shown in expression studies to result in a significant residual GBE activity, present findings explain the late onset and slowly progressive course of APBD in our patients. We conclude that APBD represents an allelic variant of GSD IV, but the reason for the difference in primary tissue involvement must be established.

1,4-alpha-Glucan Branching Enzyme↗
PubMed1998

Suppression of experimental autoimmune encephalomyelitis by tyrphostin AG-556.

Tyrosine kinase blockers from the AG 126/AG-556 tyrphostin family are shown to inhibit the lipopolysaccharide (LPS)-induced production of tumor necrosis factor alpha (TNFalpha), nitric oxide (NO), and prostaglandin E2 (PGE2) in primary rat astrocytes cultures. The tyrphostin AG-556 which was previously shown to be effective against sepsis in mice and dogs also show excellent efficacy in inhibiting experimental autoimmune encephalomyelitis (EAE) in mice. AG-556 does not block the activation of JNK/SAPK and of p38/HOG and therefore seems to act at a target down stream to these kinases which is activated in stress or at a target on an obligatory parallel pathway. These findings together with previous results showing inhibition of sepsis in mice and dogs suggest that protein tyrosine kinase (PTK) blockers of the AG-556 family may be considered in the management of human autoimmune disorders such as multiple sclerosis (MS).

Animals↗
PubMed1998

Targeted disruption of the mouse Caspase 8 gene ablates cell death induction by the TNF receptors, Fas/Apo1, and DR3 and is lethal prenatally.

Homozygous targeted disruption of the mouse Caspase 8 (Casp8) gene was found to be lethal in utero. The Caspase 8 null embryos exhibited impaired heart muscle development and congested accumulation of erythrocytes. Recovery of hematopoietic colony-forming cells from the embryos was very low. In fibroblast strains derived from these embryos, the TNF receptors, Fas/Apo1, and DR3 were able to activate the Jun N-terminal kinase and to trigger IkappaB alpha phosphorylation and degradation. They failed, however, to induce cell death, while doing so effectively in wild-type fibroblasts. These findings indicate that Caspase 8 plays a necessary and nonredundant role in death induction by several receptors of the TNF/NGF family and serves a vital role in embryonal development.

Animals↗
PubMed1998

Methylene blue prevents pulmonary injury after intestinal ischemia-reperfusion.

OBJECTIVE: To investigate the effect of methylene blue, an inhibitor of oxygen radicals, on lung injury caused by reperfusion of ischemic tissue. METHODS: Intestinal ischemia-reperfusion injury was induced in rats by clamping the superior mesenteric artery for 1 hour. Thereafter, the experimental group was administered 1% methylene blue intraperitoneally and the control group received saline. After 4 hours, pulmonary histopathologic features were assessed, and lung wet-weight to dry-weight ratios and tissue xanthine oxidase were determined. RESULTS: The control group suffered from severe pulmonary parenchymal damage, compared with slight damage in the experimental group. The number of sequestered neutrophils was significantly higher in the control group (319 +/- 60 polymorphonuclear cells per 10 high-power fields) than in the methylene blue-treated group (91 +/- 8 polymorphonuclear cells per 10 high-power fields; p < 0.001). The wet-weight to dry-weight ratio was significantly increased in the saline-treated rats compared with the methylene blue-treated group (6.19 +/- 0.28 vs. 5.07 +/- 0.21; p < 0.001). Xanthine oxidase activity was similar in both groups. CONCLUSION: Methylene blue attenuated lung injury after intestinal ischemia-reperfusion. Inhibition of oxygen free radicals may be the protective mechanism.

Animals↗
PubMed1997

Progressive dystonia with optic atrophy in a Jewish-Iraqi family.

The combination of progressive dystonia and optic atrophy is extremely rare and its morphological, metabolic and genetic basis is unknown. In a family of 9 children (8 males) born to consanguineous Israeli-Jewish-Iraqi parents, we identified four brothers who developed the syndrome at the end of the first decade. Patients had hemi or bilateral dystonia associated with striatal, mainly putaminal, atrophy on CT and MRI, various degrees of optic atrophy, minimal corticospinal tract involvement, normal intelligence and no peripheral nervous system or systemic abnormalities. No causative metabolic defect was identified. None of the several known mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy (LHON) or with LHON with dystonia were detected. Likewise, linkage to the idiopathic torsion dystonia region on chromosome 9q34 was excluded. It is suggested that this in our patients might be due to a yet unidentified genomic, autosomal recessive mutation.

Adolescent↗
PubMed1997

[Patterns of injuries and preventive measures for motorcycle accidents].

Retrospective analysis of a series of 32 motorcyclists admitted after road accidents was performed. 62% were injured on scooters with 50 cc engine capacity and most of the combined injuries occurred in this group. Most crashes occurred at road junctions. Riders of scooters with larger engine capacities tended to wear protective garments as opposed to riders with smaller engines. There was no correlation between engine capacity and severity of injury. We conclude that motorcyclists should receive special education, especially as to behavior on entering road junctions. We recommend that taxes on protective garments should be lowered in order to encourage motorcyclists to use them.

Accidents, Traffic↗
PubMed1997

[Whipple operation in trauma].

Pancreato-duodenectomy is a formidable operation for the critically injured patient. We describe a patient who sustained a stab wound to the stomach and duodenum. At operation this injury could not be reconstructed. A Whipple operation was performed in which the pancreatic stump was stapled and recovery was uneventful, although there was a low output fistula from the pancreatic stump. Limited indications for the Whipple procedure in trauma patients are suggested.

Adult↗
PubMed1997

[Blunt perineal injuries].

Blunt perineal and anal injuries are rare. We describe 2 patients who suffered injury to the perineum and anal canal due to blunt force. New surgical techniques for the reconstruction of the sphincteric mechanism are promising and should be used by the initial treating surgeon as minimal procedures in the perineal region. Anal tagging, minimal debridement, approximation of the edges of perineal laceration, repeated irrigation and loop-colostomy for fecal diversion should be the only initial surgical procedures.

Adult↗
PubMed1997

[Kapoera--popular dance or martial art?].

Kapoera, a combination of acrobatics and coordinated athletic movement, is believed to have been introduced to South America during the 19th century by transported African slaves. The dance does not involve intentional physical contact, but during 6 months, 3 patients were admitted here for injuries induced by the forceful movements of this dance. 2 underwent exploratory laparotomy that revealed bowel perforations and 1 suffered a comminuted nasal bone fracture. Medical personnel should be familiar with the potential hazards of this dance and martial art.

Adult↗
PubMed1997

Gastric serosal patch in distal pancreatectomy for injury: a neglected technique.

Distal pancreatectomy to manage disruption of the body and tail of the pancreas is a well-established surgical procedure. Fistula formation after distal pancreatectomy for injury may be as high as 24 per cent, and its treatment, although non-operative, prolongs hospitalization and increases the patient's discomfort. We describe the gastric serosal patch technique designed to cover the pancreatic stump after distal pancreatectomy in injured patients. Although this procedure has been previously described, it did not receive appropriate acclaim. Our experience suggests that this technique may eliminate fistula formation and other complications, thereby reducing patient discomfort, morbidity and hospital stay.

Adolescent↗
PubMed1997

The use of hemorrhage occluder pins for controlling paravertebral intercostal artery bleeding: case report.

OBJECTIVE: To describe a technique for arresting traumatic bleeding uncontrollable by conventional means. METHODS AND RESULTS: Major intrathoracic bleeding was stopped in a 17-year-old boy who had been stabbed in his right chest by using a Hemorrhage Occluder Pin (Surgical Instruments Inc., Placetia, Calif). CONCLUSIONS: The use of occluder pins to stop bleeding from intercostal arteries may be life-saving.

Adolescent↗
PubMed1997

Methylene blue--a promising treatment modality in sepsis induced by bowel perforation.

In this study, we compared the effects of methylene blue (MB) and an L-arginine analogue on host outcome, blood pressure, lung injury, and nitric oxide (NO) production in rats following fecal peritonitis induced by cecal ligation and puncture (CLP). Sepsis syndrome was induced in 90 rats: 30 were treated with MB, 30 with an NO synthase inhibitor, and 30 with normal saline. We found significantly less alveolar damage, higher blood pressure, better respiratory function, and delayed mortality among animals treated with MB compared to the control group. We conclude that the ability of MB to reduce alveolar damage and therefore to delay mortality in this animal septic shock model may give this harmless substance a role among the treatment modalities of septic shock syndrome induced by fecal peritonitis.

Animals↗
PubMed1997

[Penetrating gluteal injuries management--the need for management protocols].

Gunshot wounds are the most common cause of penetrating injuries in the gluteal region (PIGR), while only 17.5% result from stabbing. Complications and even death have been described as resulting from stab injury in this area, which is thus a hazard that demands an algorithm for proper management. Recently, DiGiacomo et al. recommended that transpelvic bullet trajectory warrants surgery. Mercer et al., in a study of 81 patients with PIGR, recommended an algorithm based on anatomical gluteal zones and concluded that angiography is not mandatory in such injuries. We describe 9 cases of PIGR, 4 of which were from stab wound and 1 a gunshot wound, which bled from rami of the gluteal arteries. In 2 there was no apparent bleeding, and they were hemodynamically stable. Thus in this type of injury significant damage may be obscured. Our results suggest that angiography is important in the evaluation of such injuries an should be part of the protocol for management of PIGR.

Algorithms↗