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Biomedical subjects

D Soffer

Publications and source records attributed to D Soffer.

At least 19 recordsLinked to original sources
PubMed2006

Is there an optimal time for laparoscopic cholecystectomy in acute cholecystitis?

BACKGROUND: Laparoscopic cholecystectomy (LC) is safe in acute cholecystitis, but the exact timing remains ill-defined. This study evaluated the effect of timing of LC in patients with acute cholecystitis. METHODS: Prospective data from the hospital registry were reviewed. All patients admitted with acute cholecystitis from June 1994 to January 2004 were included in the cohort. RESULTS: Laparoscopic cholecystectomy was attempted in 1,967 patients during the study period; 80% were women, mean patient age was 44 years (range, 20-73 years). Of the 1,967 LC procedures, 1,675 were successful, and 292 were converted to an open procedure (14%). Mean operating time for LC was 1 h 44 min (SD +/- 50 min), versus 3 h 5 min (SD +/- 79 min) when converted to an open procedure. Average postoperative length of stay was 1.89 days (+/- 2.47 days) for the laparoscopic group and 4.3 days (+/- 2.2 days) for the conversion group. No clinically relevant differences regarding conversion rates, operative times, or postoperative length of stay were found between patients who were operated on within 48 h compared to those patients who were operated on post-admission days 3-7. CONCLUSIONS: The timing of laparoscopic cholecystectomy in patients with acute cholecystitis has no clinically relevant effect on conversion rates, operative times, or length of stay.

Adult↗
PubMed2005

Frontotemporal dementia with ubiquitinated neuronal inclusions and visuospatial impairment.

Dementia with ubiquitinated neuronal inclusions has been described only with frontotemporal dementia (FTD). The authors report a patient with progressive FTD accompanied by prominent impairments in visuospatial cognitive functions. Pathology was characterized by ubiquitin-positive intranuclear and cytoplasmic neuronal inclusions. Cortical pathology was widespread and posteriorly accentuated but spared the hippocampal dentate gyrus.

Agnosia↗
PubMed2003

Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.

BACKGROUND: Recessively inherited hereditary inclusion body myopathy (HIBM) with quadriceps sparing was initially described only in Jews originating from the region of Persia. The recent identification of the gene responsible for this myopathy and the common "Persian Jewish mutation" (M712T) enabled the re-evaluation of atypical phenotypes and the epidemiology of HIBM in various communities in the Middle East. OBJECTIVE: To test for the M712T mutation in the DNA from HIBM patients in the Middle East. METHODS: DNA from all suspected HIBM patients was tested for the M712T mutation. Unaffected members of families with genetically proven HIBM were studied too. In the majority of families, haplotype construction with markers spanning the 700-kb region of the HIBM gene was performed. RESULTS: One hundred twenty-nine HIBM patients of 55 families (Middle Eastern Jews, Karaites, and Arab Muslims of Palestinian and Bedouin origin) were homozygous for the M712T mutation, and all carried the same haplotype. Five clinically unaffected subjects were also homozygous for the common mutation and haplotype, including two older adults (ages 50 and 68 years). Atypical features with this same mutation were marked quadriceps weakness in five patients, proximal weakness only in two patients, facial weakness in three patients, and a muscle biopsy showing perivascular inflammation in one patient. CONCLUSIONS: The phenotypic spectrum of recessive HIBM is wider than previously described, and the diagnostic criteria for this myopathy must be changed. The Middle Eastern cluster is the result of a founder mutation, with incomplete penetrance, that is approximately 1,300 years old and is not limited to Jews.

Adolescent↗
PubMed2001

Germline SDHD mutation in paraganglioma of the spinal cord.

Hereditary paraganglioma of the head and neck is associated with germline mutations in the SDHD gene, which encodes a mitochondrial respiratory chain protein. Paragangliomas of the central nervous system are very rare, occur almost exclusively in the cauda equina of the spinal cord and are considered non-familial. In the present study, we screened 22 apparently sporadic paragangliomas of the cauda equina for SDHD mutations. One spinal paraganglioma and similar cerebellar tumours that developed 22 years later in the same patient contained a missense mutation at codon 12 (GGT-->AGT, Gly-->Ser) and a silent mutation at codon 68 (AGC-->AGT, Ser-->Ser). There was no family history of paragangliomas but DNA from white blood cells of this patient showed the same sequence alterations, indicating the presence of a germline mutation. All other cases of spinal paraganglioma had the wild-type SDHD sequence, except one case with a silent mutation at codon 68 (AGC-->AGT, Ser-->Ser). This is the first observation indicating that inherited SDHD mutations may occasionally cause the development of paragangliomas in the central nervous system.

Cauda Equina↗
PubMed2001

Tumour necrosis factor mediates bacterial translocation after haemorrhagic shock and endotoxaemia.

OBJECTIVE: To assess the extent of bacterial translocation after haemorrhagic shock and reperfusion, and the involvement of tumour necrosis factor (TNF) in its mediation. DESIGN: Controlled, randomised prospective experiment. SUBJECTS: 87 rats in 7 groups. INTERVENTIONS: Haemorrhagic shock was induced in rats for 1 hour. Endotoxaemia was induced in a second group by the injection of lipopolysaccharide. A third group was injected with exogenous TNF. Some of the animals were further treated with anti-TNF. MEASUREMENTS: After 24 hours, bacterial translocation in blood and in several remote organs, and serum TNF concentrations were measured. RESULTS: High bacterial counts were found in all remote organs of rats with haemorrhagic shock or endotoxaemia. Their serum TNF concentrations were significantly higher than in the corresponding sham-operated controls. Anti-TNF significantly reduced the extent of bacterial translocation. Rats, the only treatment of which was exogenous TNF, developed substantial bacterial translocation. CONCLUSION: Bacterial translocation is associated with increased serum TNF, and can be minimised by anti-TNF. This, and the triggering of translocation in unprovoked animals by TNF alone, suggest that TNF may be the stimulator, and not the consequence, of bacterial translocation.

Animals↗
PubMed2001

Peritoneal cultures and antibiotic treatment in patients with perforated appendicitis.

OBJECTIVE: To question the common practice of sending material for microbiological examination during appendicectomy for perforated appendixes. DESIGN: Uncontrolled retrospective study. SETTING: Teaching hospital, Israel. SUBJECTS: 89 patients who had their perforated appendixes removed. INTERVENTIONS: Appendicectomy and antibiotic treatment. MAIN OUTCOME MEASURE: Whether a change in antibiotic regimen was required after bacteriological identification of bacteria isolated during the operation. RESULTS: In only 43 of the cultures (48%) taken during the operation were bacteria grown, and these were mainly Escherichia coli. In 65 patients (73%) there was no need to change the previously initiated antibiotic regimen, and in 23 (26%) it was changed purely on clinical grounds. In only one patient (1%) was the change the consequence of microbiological testing, as the organisms identified in 42 of the 43 cultures (98%) were sensitive to at least one of the antibiotics that had already been given. CONCLUSION: The practice of culturing samples taken from a ruptured appendix is redundant, because the antibiotic that has already been initiated is effective in most of the patients and the decision to modify the therapeutic regimen is dominated by clinical considerations.

Adolescent↗
PubMed2001

Stab wounds to the gluteal region: a management strategy.

OBJECTIVE: To examine the utility of a protocol for treating stab wounds to the gluteal region. These are uncommon and potentially lethal, and the location of injury influences the rate and severity of associated injuries. This was a retrospective, uncontrolled study. METHODS: Patients who sustained gluteal stab wounds and were treated according to our predetermined protocol that classifies injuries as upper or lower zone were reviewed, and associated injuries and outcome were measured. RESULTS: Of 27 gluteal stab wounds in 17 patients, 53% were classified as upper zone and 47% as lower zone injuries. Sixty-six percent of the upper zone injuries had associated neurologic, vascular, or visceral injuries that required invasive procedures or surgery, compared with 12.5% for lower zone injuries (p < 0.05). CONCLUSION: Upper zone gluteal stab wounds require prompt multisystem evaluation with mandatory angiography and aggressive management. Lower zone wounds need observation and repeated evaluations.

Adolescent↗
PubMed2000

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.

Mutations in dysferlin were recently described in patients with Miyoshi myopathy, a disorder that preferentially affects the distal musculature, and in patients with Limb-Girdle Muscular Dystrophy 2B, a disorder that affects the proximal musculature. Despite the phenotypic differences, the types of mutations associated with Miyoshi myopathy and Limb-Girdle Muscular Dystrophy 2B do not differ significantly. Thus, the etiology of the phenotypic variability associated with dysferlin mutations remains unknown. Using genetic linkage and mutation analysis, we identified a large inbred pedigree of Yemenite Jewish descent with limb-girdle muscular dystrophy. The phenotype in these patients included slowly progressive, proximal, and distal muscular weakness in the lower limbs with markedly elevated serum creatine kinase (CK) levels. These patients had normal development and muscle strength and function in early life. Muscle biopsies from 4 affected patients showed a typical dystrophic pattern but interestingly, in 2, an inflammatory process was seen. The inflammatory infiltrates included primarily CD3 positive lymphocytes. Associated with this phenotype, we identified a previously undescribed frameshift mutation at nucleotide 5711 of dysferlin. This mutation produced an absence of normal dysferlin mRNA synthesis by affecting an acceptor site and cryptic splicing. Thus, splice site mutations that disrupt dysferlin may produce a phenotype associated with inflammation.

Alternative Splicing↗
PubMed2000

Metastases to the retroperitoneum in patients with extremity soft tissue sarcoma: an unusual metastatic pattern.

BACKGROUND: Extremity soft tissue sarcoma (STS) metastasizes preferentially to the lungs via the hematogenous route. Metastases in extrapulmonary sites such as bone, brain, and subcutaneous tissues are observed less frequently. To the authors' knowledge, limb STS primarily metastasizing to the retroperitoneum has not been described to date. The current study reviews the clinical course, management, and patient prognosis in such a pattern of metastasis. METHODS: Records of patients with retroperitoneal metastases originating from an extremity STS between 1994-1998 were reviewed. Patient demographics, primary tumor site, other tumor sites, local recurrence, distant metastasis, treatment, and survival were analyzed. RESULTS: Ten patients were included in the study. All had primary STS of different histologic types and high histologic grade confined to a lower limb. The retroperitoneal metastases were diagnosed between 6-120 months (mean, 45 months) after diagnosis of the primary sarcoma. At that time, one patient had evidence of local recurrence of the primary tumor site, two patients had lung metastases, and one patient had diffuse bone metastases. Eight patients were eligible for surgery. In six of these patients the metastases were excised completely. The median follow up was 12 months. Of the six patients who underwent complete resection, 3 were alive at last follow-up with no evidence of disease after 12 months, 14 months, and 24 months, respectively. Two patients with recurrent retroperitoneal disease and one patient with retroperitoneal and lung metastases died despite systemic chemotherapy. CONCLUSIONS: Extremity STS can metastasize hematogenously to the retroperitoneum, a fact that mandates a high index of suspicion and abdominal imaging studies during the follow-up of such patients. Retroperitoneal metastases necessitate aggressive surgical resection to enable prolongation of survival.

Adult↗
PubMed2000

Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

The cluster in Jews of Libyan origin of limb-girdle muscular dystrophy type 2B due to a dysferlin 1624delG mutation is described. The carrier frequency of this mutation is calculated to be approximately 10% in this population, in which the disease prevalence is at least 1 per 1300 adults. Twenty-nine patients from 12 families were all homozygous for the same mutation. However, clinical features were heterogeneous even within the same family: in half of the patients onset was in the distal muscles of the legs, which is similar to Miyoshi myopathy, while in others onset was in the proximal musculature, which is similar to other forms of limb-girdle dystrophies. Age at onset varied from 12 to 28 years (mean 20.3 +/- 5.5 years). One patient was presymptomatic at age 28 years. Progression was slow regardless of age of onset, patients remaining ambulatory until at least 33 years. Five patients described subacute, painful enlarged calves as an early, unusual feature. The variable features in this ethnic cluster contribute to the definition of the clinical spectrum of dysferlinopathies in general. The cause of the observed heterogeneity remains unclear.

Adult↗
PubMed2000

Appendicitis in the elderly: what has changed?

BACKGROUND: The course and outcome of appendicitis in the elderly differs from that of the general population. The rates of perforated appendices, error in diagnosis, postoperative complications and mortality may be related to the time lapse between onset of symptoms and admission, and hence delay in surgery. OBJECTIVES: To evaluate if these factors have improved in recent years. METHODS: A retrospective study was carried out of all 61 patients over age 60 who underwent appendectomies in a major metropolitan hospital during 1988-98. RESULTS: We found that most patients had appendectomies within the first 24 hours of admission and within 3 days of symptoms. Rate of perforation was 43%, error 5.6%, morbidity 41%, and mortality 3.2%. CONCLUSIONS: The high rate of appendix perforation in the elderly is not due to delay. The literature reveals little improvement in the statistics of the disease over the last five decades, despite advances in imaging and surgical technique. This may be explained by the increasing inclusion of octogenarian patients.

Age Factors↗
PubMed2000

Improving screening for melanoma by measuring similarity to pre-classified images.

A new method that can dramatically improve the sensitivity and especially the specificity of skin naevi screening for melanoma by physicians is introduced. The method is based on measuring the similarity to previously classified naevi images. As more naevi are being classified, the power of the method is enhanced. Thus physicians can benefit from experience accumulated by others and the screening can be performed effectively by physicians with less experience.

Dysplastic Nevus Syndrome↗
PubMed2000

[Combined approach in management of penetrating injury of vertebral artery].

Penetrating injuries of the vertebral artery are not common. Although surgical control of this type of injury is well-documented, the combined approach (surgery and packing for temporary control of bleeding, followed by angiography and embolization for permanent control) is now recognized and practiced. We describe a 40-year-old man who was stabbed in the neck. He was rushed to the operating theater in hemorrhagic shock. A vertebral artery injury was identified and packed. Angiography and embolization permanently controlled the bleeding. The combined approach is safe and we recommend it in those in whom bleeding from the vertebral artery is initially well controlled with packing.

Adult↗
PubMed1999

A novel antigen-toxin chimeric protein: myelin basic protein-pseudomonas exotoxin (MBP-PE 40) for treatment of experimental autoimmune encephalomyelitis.

Myelin basic protein (MBP), is a major component of the central nervous system (CNS) myelin. MBP can stimulate T cells that migrate into the CNS, initiating a cascade of events that result in perivascular infiltration and demyelination. EAE is an inflammatory and demyelinating autoimmune disease of the CNS that serves as a model for the human disease Multiple Sclerosis (MS). Taking advantage of the fact that EAE can be mediated by T cells, able to recognize MBP or its peptides, we developed a new approach to target anti-MBP T cells by fusing an MBP-sequence to a toxin. In the new chimeric protein, an oligonucleotide coding for the guinea pig MBP encephalitogenic moiety (residues 68-88) was fused to a cDNA encoding a truncated form of the PE gene (PE40). The chimeric gene termed MBP-PE was expressed in E. coli and highly purified. MBP-PE chimeric protein was cytotoxic to various anti-MBP T cells. Moreover, treatment with the novel MBP-toxin blocked the clinical signs of EAE as well as CNS inflammation and demyelination. A chimeric protein such as MBP-PE40 presents a novel prototype of chimeric proteins, composed of antigen/peptide-toxin, that could prove to be an efficient and specific immunotherapeutic agent for autoimmune diseases in which a known antigen is involved.

ADP Ribose Transferases↗