Lumbar Lipomeningomyelocele Associated with Multiple Café au Lait Spots: A Case Report

We report on a child with several café au lait spots in association with a lumbar lipomeningomyelocele as an apparently new association. Cutaneous markers, the identification of which plays a crucial role in the early diagnosis and management of spinal malformations, can accompany occult spinal dysraphism. Herein we report a case of lumbar lipomeningomyelocele associated with an overlying café au lait spot that served as a marker of occult spinal dysraphism. The patient also had segmental café au lait spots on the face, making the association unique.     

Prospective Randomized Comparison of Linear Endostaplers During Laparoscopic Sleeve Gastrectomy

Purpose

The development of Laparoscopic Linear Endostaplers (LLES) is crucial in minimally invasive approaches in bariatric surgery, but there have been very few published studies comparing 6-row LLES in Laparoscopic Sleeve Gastrectomy (LSG). The objective of this study was to compare two 6-row LLES in LSG.

Methods

A total of 60 patients were prospectively randomized to undergo LSG with either Medtronic Endo GIA? Tri-Staple technology (MTS) or AEON ? Endostapler(Lexington Medical) LLES. The measured parameters included patient demographics, comorbidity indices, LLES and specimen characteristics, postoperative symptoms, hospital stay, and total adverse events (AEs). Intraoperative bleeding was evaluated using five laparoscopic and corresponding endoscopic images of staple line before clip application, compared with a 1–5 Visual Analogue Scale (VAS), assessed by an independent bariatric surgeon who was blinded to the LLES used. Images of all cases were reviewed on the same day to increase test–retest reliability.

Results

Both groups were similar in patient demographics. Compared to MTS, AEON LLES group had significantly lower bleeding VAS scores in 4/5 laparoscopic images (pre-pyloric: 1.7?±?0.7 vs. 2.36?±?0.76, p?=?0.0007, mid-sleeve: 1.46?±?0.62 vs. 1.86?±?0.68, p?=?0.019, proximal sleeve: 1.6?±?0.77 vs. 2.0?±?0.83, p?=?0.038, gastro-esophageal junction: 1.43?±?0.67 vs. 1.86?±?0.77, p?=?0.014) and 3/5 endoscopic images (pre-pyloric: 1.56?±?0.56 vs. 2.36?±?0.76, p?=?0.006, incisura: 1.66?±?0.54 vs. 2.0?±?0.52, p?=?0.021, mid-sleeve: 1.63?±?0.49 vs. 2.0?±?0.45, p?=?0.005). There was no statistical difference in other parameters.

Conclusion

Both devices were equally safe and effective in terms of LLES and specimen characteristics, patient symptoms, hospital stay, and AEs. Bleeding VAS scores were significantly lower, favoring the AEON LLES.

Graphical abstract

     

Fracture risk in monoclonal gammopathy of undetermined significance.

To assess fractures in monoclonal gammopathy of undetermined significance (MGUS), the precursor of multiple myeloma, we followed 488 Olmsted County, MN, residents with MGUS in a retrospective cohort study. There was a 2.7-fold increase in the risk of axial fractures but no increase in limb fractures. The pathophysiologic basis for the increased axial fractures should be determined. INTRODUCTION: Multiple myeloma is often preceded by monoclonal gammopathy of undetermined significance (MGUS). Fractures are common in myeloma as a result of lytic bone lesions, generalized bone loss, and elevated bone turnover from excessive cytokine production. Whether fractures are also increased in MGUS is unknown. MATERIALS AND METHODS: In a population-based retrospective cohort study, 488 Olmsted County, MN, residents with MGUS first diagnosed in 1960-1994 (52% men; mean age, 71.4 +/- 12.8 years) were followed for 3901 person-years; follow-up was censored at progression to myeloma. The relative risk of fractures was assessed by standardized incidence ratios (SIRs), and risk factors were evaluated in proportional hazards models. RESULTS AND CONCLUSIONS: Altogether, 200 patients experienced 385 fractures. Compared with expected rates in the community, statistically significant increases were seen for fractures at most axial sites, for example, vertebrae (SIR, 6.3; 95% CI, 5.2-7.5). There was a slight increase in hip (SIR, 1.6; 95% CI, 1.2-2.2) but not distal forearm fractures (SIR, 0.8; 95% CI, 0.4-1.5). The relative risk (SIR) of any axial fracture was 2.7 (95% CI, 2.3-3.1) compared with only 1.1 (95% CI, 0.9-1.4) for all limb fractures combined. In a multivariate analysis, the independent predictors of any subsequent fracture were age (hazard ratio [HR] per 10-year increase, 1.4; 95% CI, 1.2-1.6) and corticosteroid use (HR, 1.8; 95% CI, 1.2-2.6); greater weight at diagnosis (HR per 10 kg, 0.8; 95% CI, 0.8-0.9), and IgG monoclonal protein (HR, 0.7; 95% CI, 0.5-0.97) were protective. Baseline monoclonal protein level, a determinant of myeloma progression, did not predict fracture risk. Thus, the risk of axial, but not peripheral, fractures is increased among MGUS patients even before progression to myeloma. The pathophysiologic basis for this should be determined because elevated bone turnover, for example, might be treatable.     

Clinical profile of trichotillomania.

Twenty-four cases of trichotillomania attending psychiatry outpatient department and child guidance clinic at Kalawati Saran Children's and Smt Sucheta Kriplani Hospitals over a period of 2 years from July, 1985 to November 1987 were studied. Females (66.7%) outnumbered the males (33.3%). Majority of cases belonged to age group 6-10 years (54.2%) and nuclear family (68.5%). Nail-biting (25.0%) was the commonest associated neurotic trait, followed by enuresis (20.9%), temper-tantrum (12.5%), etc. A past history of hysterical fits and neurotic depression was found in 3 cases (12.5%) and 2 cases (8.3%) respectively. Family history of neurosis was seen in mothers and fathers of 20.9% and 12.5% cases respectively. Trichobezoars and trichophytobezoars were found in 6 cases (25.0%) and 3 cases (12.5%) respectively. Majority of patients of trichobezoars presented with vague complaints like heaviness in the stomach (55.6%), inability to gain weight (44.4%), etc, while 22.2% cases were asymptomatic and detected only on screening.     

Monoclonal Gammopathy of Undetermined Significance and Smoldering Multiple Myeloma

Monoclonal gammopathy of undetermined significance (MGUS) is characterized by the presence of a serum monoclonal (M) protein level less than 3 g/dL, less than 10% clonal plasma cells in the bone marrow, and the absence of hypercalcemia, renal insufficiency, anemia, or bone lesions attributable to a clonal plasma cell disorder. Patients may be tested for a monoclonal gammopathy by serum protein electrophoresis, immunofixation, and the free light chain (FLC) assay. The prevalence of MGUS is 3% for persons more than 50 years of age and 5% in those more than 70 years of age. The risk of progression to multiple myeloma or a related disorder is 1% per year. The size and type of M protein, the number of bone marrow plasma cells, and the results of the FLC ratio are independent risk factors for progression. Smoldering multiple myeloma (SMM) is a more advanced premalignant phase than MGUS and is characterized by more than 3 g/dL of serum M protein, more than 10% clonal plasma cells in the bone marrow, or both, with no evidence of end-organ damage.     

Desensitization of platelet-activating factor-stimulated protein phosphorylation in platelets

Treatment of 32P-labeled rabbit platelets with platelet-activating factor (PAF) caused a time- and dose-dependent phosphorylation of several proteins including five major phosphorylated proteins with apparent molecular weights of 20,000, 35,000, 40,000, 65,000, and 150,000. Both PAF and thrombin caused a rapid increase followed by a decrease in phosphorylation of proteins, indicating the occurrence of a phosphorylation-dephosphorylation process. Four separate PAF receptor antagonists, CV-3988, CV-6209, SRI-63-441, and SRI-63-675 drastically reduced the PAF-stimulated protein phosphorylation. The order of potency was SRI-63675 greater than SRI-63441 greater than or equal to CV-6209 greater than CV-3988. These antagonists had no effect on thrombin-stimulated protein phosphorylation. Pretreatment of platelets with PAF (0.1 nM) completely abolished any further protein phosphorylation by the same concentration of PAF. PAF pretreatment shifted the dose response of protein phosphorylation by about 2 log units, to the right. When platelets were treated with PAF (10 nM) for 10 min, this abolished phosphorylation of proteins by any concentration of PAF. These studies indicated a homologous desensitization of protein phosphorylation. Interestingly, PAF-pretreated platelets still exhibited phosphorylation of proteins by thrombin. On the other hand, a lack of protein phosphorylation by PAF or thrombin was observed in platelets preexposed to thrombin and this demonstrated a heterologous desensitization. It is concluded that phosphorylation of proteins by PAF is a PAF receptor-coupled event and that this process is desensitized in platelets preexposed to PAF. The fact that both the activation of phosphoinositide-specific phospholipase C and the phosphorylation of proteins are desensitized in PAF-pretreated platelets suggests that a close "regulatory" intercommunication between these processes exists.     

The BPV-1 E5 oncoprotein expressed in Schizosaccharomyces pombe exhibits normal biochemical properties and binds to the endogenous 16-kDa component of the vacuolar proton-ATPase

The 44-amino-acid E5 oncoprotein of bovine papillomavirus type 1 transforms immortalized murine fibroblast cell lines. This highly hydrophobic protein forms homodimers, localizes to intracellular membrane compartments (including the Golgi apparatus), and forms a complex with the 16-kDa membrane-embedded constituent (16k) of the vacuolar proton-ATPase. To develop a system for the genetic and biochemical analysis of the E5/16k interaction, the E5 gene was cloned into a new vector which was designed for expression in the fission yeast Schizosaccharomyces pombe. The E5 protein synthesized in this system dimerized normally and bound to endogenous and overexpressed S. pombe 16k protein. Comparison of the S. pombe and mammalian 16k proteins showed strong conservation in carboxyl-terminal amino acids but greater variation in the amino-terminal sequences, suggesting that E5 was interacting with the 16k carboxyl domains. Finally, a new protein epitope tag is described which permitted for the first time the coprecipitation of E5 with antibodies directed against the 16k protein.     

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

Retinitis pigmentosa is one of the most common causes of severevisual handicap in middle to late life. Prior to this report,seven loci had previously been mapped for the autosomal dominantform of this disorder (adRP). We now report the identificationof a novel adRP locus on chromosome 17q. To map the new locus,we performed linkage analysis with microsatellite markers ina large South African kindred. After exclusion of 13 RP candidategene loci (including rhodopsin and peripherin-RDS), we obtainedsignificant positive lod scores at zero recombination fraction(     

Expression of cytoplasmic TFF2 is a marker of tumor metastasis and negative prognostic factor in gastric cancer

Trefoil factor family 2 (TFF2) is a small peptide constitutively expressed in the gastric mucosa, where it plays a protective role in restitution of gastric mucosa. TFF2 has also been shown to be expressed in some gastric cancers, but its role in tumor metastasis and patient prognosis has not been examined. In this study, we examined TFF2 expression at both the mRNA and protein levels and correlated these results with the clinicopathologic characteristics and prognosis of gastric cancer patients. Among the 144 curatively resected samples, 43 (30%) were positive for TFF2. TFF2 expression was preferentially observed in the infiltrating tumor cells sparing the superficial cells. Significantly increased expression of TFF2 was noted in large tumors of the diffuse type. An increased prevalence of TFF2 expression was also found in tumors with advanced T and N stage and in patients with lymphatic and venous invasion. Accordingly, patients with TFF2-expressing tumors had a significantly worse disease-free survival, and in multivariate analysis, this finding remained significant as an independent prognostic factor. Taken together, our results suggest that TFF2 expression may play a role in gastric cancer invasion and as such could be a useful target for therapeutic intervention.