Synchronous invasive ductal carcinoma in encapsulated papillary ductal carcinoma.

Encapsulated papillary ductal carcinoma (EPC) of the breast is a rare form of cancer with defining histopathology of encapsulation. These lesions are typically indolent but may rarely have concomitant, synchronous invasive lesions.This report details a 56-year-old black female who presented with a palpable left breast mass. Adenosis with focal fibrous and ductal hyperplasia characteristics were found on core needle biopsy. Excisional biopsy showed EPC with invasive components. A simple mastectomy was performed and a second lesion was identified as invasive ductal carcinoma.EPC typically has good prognosis and a low incidence of invasion. The risk increases in the presence of a second, synchronous lesion as in our case. Management is typically performed with breast conserving methods; however, missing a second lesion is possible. This report provides an overview of the literature and discussion of the role of MRI in preoperative workup.

Laparoscopic treatment of enteric fistulas.

BACKGROUND: Elective laparoscopically assisted sigmoid colectomy for diverticular disease and ileocolic resection for terminal ileal Crohn's disease are safe and beneficial procedures in many patients. However, few data exist regarding the laparoscopic management of enteric fistulas from diverticular and Crohn's disease. METHODS: We completed a retrospective chart review of patients who underwent laparoscopic treatment of enteric fistulas complicating diverticular and Crohn's disease. RESULTS: During an 8-year period (1994-2002), 72 patients underwent 73 laparoscopically assisted bowel resections for enteric fistulas by one surgeon at the Mount Sinai Medical Center. Ninety percent of patients had Crohn's disease, the average age was 39, and the male/female ratio was 38/34. Patients had a history of prior abdominal surgery in 39.7% of cases. Multiple fistulas were present in 30% of patients and 12.3% underwent multiple resections at the time of operation. Mean operating time was 199 min, and the conversion rate was 4.1%. Average length of stay was 5.2 days. There were no mortalities in the series. Overall morbidity was 11%. CONCLUSIONS: Laparoscopic management of enteric fistula disease is safe and effective. Low morbidity and short hospital stay demonstrate the safety and benefit of the minimally invasive approach for even complicated fistula disease in patients with history of prior abdominal surgery and multiple fistulas, or in patients requiring multiple resections for fistulas from diverticular and Crohn's disease.

Small bowel obstruction after laparoscopic donor nephrectomy.

BACKGROUND: Laparoscopic live donor nephrectomy has become the procedure of choice for kidney procurement at many centers worldwide. A decrease in postoperative pain and length of stay, a faster return to work, and no difference in morbidity and mortality compared to open nephrectomy have all been reported. However, few data exist regarding the complication of postoperative internal hernia and small bowel obstruction, which is unique to a laparoscopic/transperitoneal approach. METHODS: We present three case reports of patients who developed small bowel obstruction from an internal hernia and mesenteric defect after laparoscopic donor nephrectomy. RESULTS: A total of 635 patients underwent laparoscopic donor nephrectomy between March 1996 and August 2001 at our institution. Small bowel obstruction developed in three patients (0.47%) within 1 week postoperatively. Each case involved an internal hernia through a left colon mesenteric defect at the site of nephrectomy. Reoperation was necessary in each case and was associated with a prolonged hospital stay (mean, 22.3 days; range, 6-37). Two patients were managed with laparotomy; one patient underwent a laparoscopically assisted exploration. One patient required an additional open exploration for intraabdominal sepsis and cholecystectomy. CONCLUSIONS: Small bowel obstruction from internal hernia following laparoscopic donor nephrectomy is a rare event, but it can lead to significant morbidity in an otherwise healthy patient. These patients may be at higher risk for bowel obstruction given the soft tissue defect remaining after nephrectomy. Vigilance is required when mobilizing the colon to ensure that mesenteric defects are recognized and repaired.

Early experience with two-stage laparoscopic Roux-en-Y gastric bypass as an alternative in the super-super obese patient.

BACKGROUND: Surgical management of the supersuper obese patient (BMI >60 kg/m2) has been a challenging problem associated with higher morbidity, mortality, and long-term weight loss failure. Current limited experience exists with a two-stage biliopancreatic diversion and duodenal switch in the supersuper obese patient, and we now present our early experience with a two-stage gastric bypass for these patients. METHODS: We completed a retrospective bariatric database and chart review of super-super obese patients who underwent laparoscopic sleeve gastrectomy as a first-stage procedure followed by laparoscopic Roux-en-Y gastric bypass as a second-stage for more definitive treatment of obesity. RESULTS: During a two-year period, 7 patients with BMI 58-71 kg/m2 underwent a two-stage laparoscopic Roux-en-Y gastric bypass by two surgeons at the Mount Sinai Medical Center. 3 patients were female, 4 patients were male, and the average age was 43. Prior to the sleeve gastrectomy, the mean weight was 181 kg with a BMI of 63. Average time between procedures was 11 months. Prior to the second-stage procedure, the mean weight was 145 kg with a BMI of 50 and average excess weight loss of 37 kg (33% EWL). Six patients have had follow-up after the second-stage procedure with an average of 2.5 months. At follow-up the mean weight was 126 kg with a BMI of 44 and average excess weight loss of 51 kg (46% EWL). The mean operative times for the two procedures were 124 and 158 minutes respectively. The average length of stay for all procedures was 2.7 days. 4 patients had 5 complications, which included splenic injury, proximal anastomotic stricture, left arm nerve praxia, trocar site hernia, and urinary tract infection. There were no mortalities in the series. CONCLUSIONS: Laparoscopic sleeve gastrectomy with second-stage Roux-en-Y gastric bypass are feasible and effective procedures based on short-term results. This two-stage approach is a reasonable alternative for surgical treatment of the high-risk supersuper obese patient.

Impact of upper endoscopic survey during percutaneous endoscopic gastrostomy tube placement.

BACKGROUND: No consensus exists concerning the utility of a full diagnostic upper endoscopy during percutaneous endoscopic gastrostomy (PEG) tube placement. We evaluate the effect of a complete survey on identifying and treating unsuspected gastrointestinal pathology. METHODS: During a 10-year period (1990-2000), 1,706 patients underwent attempted PEG tube placement by five different surgical endoscopists at one institution. A complete survey of the esophagus, stomach, and proximal duodenum was attempted in all cases. Endoscopic findings and recommendations were recorded in a computerized log and patient charts. Pathology results were obtained from a computerized pathology database and patient charts. RESULTS: Placement of a PEG tube was successful in 97%, and a full survey was possible in 99% of the cases. Pathologic findings were found in 38% of the surveyed patients (esophagus, 7%; stomach, 24%; duodenum, 7%). One group with gastrointestinal polyps or gastric ulcers (5.7%) was identified as possible candidates for endoscopic intervention. In 30% of this group (1.8% of the total) a biopsy was performed, or bleeding was treated endoscopically. In a second group pathology was identified in the duodenum (6.4%) that would not have been recognized without a full survey. These duodenal findings resulted in a recommendation for treatment change in 38% of this group (2.4% of the total). CONCLUSIONS: Upper endoscopic survey before PEG tube placement showed a significant amount of unsuspected gastrointestinal pathology. Findings requiring biopsy, immediate treatment, or a change in medical treatment occurred in 4.2% of the cases, and these findings did not prevent PEG tube placement in any patient.

Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.

About 10% of cases of amyotrophic lateral sclerosis (ALS), a paralytic disorder characterized by death of motor neurons in the brain and spinal cord, exhibit autosomal dominant inheritance. A subgroup of these familial cases are caused by mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1). We report here three additional mutations occurring in the SOD1 gene in three families with ALS. Two of these changes are missense mutations in exon 5 of the SOD1 gene, resulting in leucine 144 to serine and alanine 145 to threonine substitutions. The third, a single base pair change in intron 4 immediately upstream of exon 5, results in an alternatively spliced mRNA. The alternate transcript conserves the open reading frame of exon 5, producing an SOD1 protein with three amino acids inserted between exons 4 and 5 (following residue 118). These three mutations bring to 29 the total number of distinct SOD1 mutations associated with familial ALS.

Ligation-induced acute pancreatitis in opossums: acinar cell necrosis in the absence of colocalization.

Acute necrotizing pancreatitis in opossums after bile and pancreatic duct ligation (BPDL) is a useful experimental corollary of gallstone-induced acute pancreatitis in humans. In experimental and human acute pancreatitis, a loss of segregation of the lysosomal enzyme cathepsin B and the zymogen proenzyme trypsinogen (colocalization) is implicated as the triggering event of disease pathogenesis, as cathepsin B can activate trypsinogen. The object of this study was to quantitate acinar cell necrosis and to study subcellular distribution of cathepsin B in BPDL-induced acute necrotizing pancreatitis in opossums. Bile and pancreatic ducts were ligated separately (no bile reflux) in four opossums while ducts were dissected in four sham controls. Opossums were killed 24 hr after operation. Three equidistant cross-sectional portions of each opossum pancreas were submitted to histologic examination. In blinded fashion, each focus of acinar cell necrosis was photographed and quantitated with digitizing morphometry. Numerical density (foci/cm2) and areal density (x10(3) micron 2/cm2) of focal acinar cell necrosis were determined. Differentially centrifuged pancreatic homogenates were assayed for cathepsin B, the lysosomal marker enzyme N-acetylglucosaminidase, and amylase. Morphometric quantitation of acinar cell necrosis confirmed development of acute necrotizing pancreatitis after 24 hr of BPDL in opossums. However, colocalization was not observed after BPDL, as evidenced by an absence of subcellular shift of cathepsin B activity (and N-acetyl-glucosaminidase activity) from the lysosome-enriched to the zymogen-enriched subcellular fraction. Amylase activity was increased in subcellular fractions after BPDL.(ABSTRACT TRUNCATED AT 250 WORDS)

Genetic and physical mapping of the GLUR5 glutamate receptor gene on human chromosome 21.

Glutamate receptors (GluRs) mediate excitatory neurotransmission and may have important roles in central nervous system disorders. To characterize the human GLUR5 gene, which is located on human chromosome 21q22.1, we isolated cDNAs, genomic phage lambda clones, and yeast artificial chromosomes (YACs) and developed sequence tagged sites (STSs) and simple sequence length polymorphisms (SSLPs) for GLUR5. Genetic mapping with a tetranucleotide AGAT repeat named GLUR5/AGAT (six alleles observed, 70% heterozygosity) placed GLUR5 5 cM telomeric to APP (D21S210) and 3 cM centromeric to SOD1 (D21S223). The human GLUR5 gene is located near the familial amyotrophic lateral sclerosis (FALS) locus; linkage analysis of GLUR5 SSLPs in FALS pedigrees yielded negative lod scores, consistent with the recent association of the FALS locus with the SOD1 gene. Physical mapping of GLUR5 using a YAC contig suggested that the GLUR5 gene spans approximately 400-500kb, and is within 280kb of D21S213. The large size of the GLUR5 gene raises questions regarding its functional significance. Our GLUR5 YAC contig includes clones found in the Genethon chromosome 21 YAC contig, and reference to the larger contig indicates the orientation centromere--D21S213-GLUR5 5' end-GLUR5/AGAT--GLUR5 3' end--SOD1. The development of GLUR5/AGAT should permit rapid determination of the status of the GLUR5 gene in individuals with partial trisomy or monosomy of chromosome 21. Such studies may provide insights concerning the possible role of GLUR5 in Down syndrome.

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord. Its cause is unknown and it is uniformly fatal, typically within five years. About 10% of cases are inherited as an autosomal dominant trait, with high penetrance after the sixth decade. In most instances, sporadic and autosomal dominant familial ALS (FALS) are clinically similar. We have previously shown that in some but not all FALS pedigrees the disease is linked to a genetic defect on chromosome 21q (refs 8, 9). Here we report tight genetic linkage between FALS and a gene that encodes a cytosolic, Cu/Zn-binding superoxide dismutase (SOD1), a homodimeric metalloenzyme that catalyzes the dismutation of the toxic superoxide anion O2.- to O2 and H2O2 (ref. 10). Given this linkage and the potential role of free radical toxicity in other neurodenegerative disorders, we investigated SOD1 as a candidate gene in FALS. We identified 11 different SOD1 missense mutations in 13 different FALS families.

Personality and depression: a further evaluation.

This brief report provides additional data indicating that the depressed state may lead to a significant increase in the frequency of diagnosis of personality disorder, and that the assessment of personality disorder should be delayed until successful treatment of an acute depression.