Myoclonic Absence-Like Seizures and Chromosome Abnormality Syndromes

Summary: Purpose: We explored the relationship between myoclonic absence seizures (MAS) and underlying chromosome disorders.
Methods: Among 14 patients with MAS observed in three centers, 5 had typical cryptogenic myoclonic absence epilepsy (MAE), 2 had MAS associated with other seizure types (1 with signs of a neuronal migration abnormality and 1 with signs of a metabolic disorder), and 7 had MAS, with or without other seizure types, complicating a chromosome abnormality syndrome-2 with trisomy 12p, 4 with Angelman syndrome, and 1 with inv dup (15).
Results: In the 7 patients with chromosomopathy, MAS appeared at a mean age of 2.9 years (range 4 months to 6 years 6 months), had a duration of 4–20 s, and were accompanied by reduced awareness and rhythmic myoclonic jerks involving proximal limb muscles. Ictal EEG showed 2- to 3-Hz generalized spike-and-wave discharges.
Conclusions: In these patients, MAS differed slightly from those of typical MAE: age of onset was earlier, absences were of shorter duration, and no clear increase in muscular tone was noted. Abnormal expression of genes codifying for the subfamily of K⁺ channels and for γ-aminobutyric acid-3 subunit receptors (GABRBS), both located in the chromosome segments involved in the chromosomopathies presented by our patients, could be responsible for the same generalized seizure type. Chromosome analysis should be performed in patients with mental retardation and MAS, especially when the ictal pattern does not completely overlap that observed in MAE.     

Regional Variation in Competitive Employment for Persons with Severe Mental Illness

The supported employment approach offers the potential to increase rates of competitive employment for persons with severe mental illness, but implementation and outcomes vary considerably. The authors examined regional variation in rates of employment across one state to ascertain the factors that affect outcomes. Mental health centers that emphasized supported employment programs achieved higher rates of competitive employment than centers that continued to offer pre-employment programs, such as day treatment and sheltered workshops. Mental health centers that attained high rates of competitive employment spent a larger proportion of their total budget on vocational services than other centers. Rural centers were also more likely to attain high employment rates than urban centers.     

Occupation and soft-tissue sarcoma in northeastern Italy

The influence of occupation and exposure to different agents on the risk of developing soft-tissue sarcoma (STS) was assessed in a case-control study based on 93 cases of STS (53 men and 40 women) and 721 controls (371 men and 350 women), conducted in northeastern Italy. No risk elevation was found in subjects employed in agriculture (odds ratio [OR] for > 10 years = 0.8,95 percent confidence interval [CI]=0.4–1.5), nor in those who reported exposure to pesticides or herbicides (OR=0.4, CI=0.1–1.2). Similarly, neither occupation in the furniture, upholstery, and mechanics industries, nor exposure to livestock or meat processing, wood dust, metal dust, and dyes or paints were associated with STS risk. Workers who reported exposure to chemical agents or to benzene or other solvents for more than 10 years had, respectively, a 1.8-fold (CI=0.7–4.4) and a 2.2-fold (CI=0.9-5.5) higher risk of developing STS. Although the small number of STS cases limits the interpretation of the study results, these findings weigh against the hyphothesis that pesticides, herbicides, or other exposures related to agriculture, play an important role in the etiology of STS. The direct associations with exposure to chemical agents and benzene or other solvents, albeit not statistically significant, may provide a useful hint for future investigations.Drs Serraino and Franceschi are with the Epidemiology Unit, and Dr Carbone is with the Department of Pathology at the Aviano Cancer Center, Aviano, Italy. Dr La Vecchia is with the Mario Negri Institute for Pharmacological Research, Milan, Italy and the Institute of Social and Preventive Medicine, Lausanne, Switzerland. Address correspondence to Dr Serraino at the Epidemiology Unit, Aviano Cancer Center, Via Pedemontana Occ. 33081 Aviano (PN), Italy. The work was supported by the contribution of the Italian Association for Cancer Research, Milan, and the Italian National Research Council (CNR Applied Project Clinical Application of Oncological Research, Contract 87.01544.44).     

Weight Loss and Complications After Vertical Banded Gastroplasty

We have performed 124 vertical banded gastroplasties (VBG) according to Mason, except that we used a collar 5.5 cm in circumference. We carried out a midline incision in 68 cases and a left subcostal incision in 56, with double application of a 2-row stapler with reinforcement in the first 69 cases and a single application of a 4-row stapler in 55 (15 with reinforcement, 40 without). We have followed 107 (86.2%) patients for a mean of 30 months (range 3-84). The mortality rate was nil. The intraoperative complications were three spleen lacerations (splenectomy), and the early complications were two gastric leaks (re-intervention) and one gastric bleeding. The late complications were one gastric perforation (re-intervention), four outlet stenoses (one re-intervention), one bleeding by collar erosion and nine ventral hernias (occurring only with the midline incision). The percentage excess weight loss was 46.3 ± 16.4 at 6 months, 53.4 ± 17.9 at 1 year, 47.8 ± 19.6 at 3 years, and 45 ± 23.3 at 5 years. In 12 cases the weight loss was unsatisfactory (less than 30% of the initial excess weight). Often such failures were due to staple-line disruption. We have had no staple-line disruptions since we stopped performing the reinforcement. VBG has a low incidence of complications, but sometimes these may be serious. In our opinion, the technical procedures which offer a stronger vertical partition give better results for weight loss.     

Oncological outcomes of salvage radical prostatectomy for recurrent prostate cancer in the contemporary era: A multicenter retrospective study

BackgroundSalvage radical prostatectomy (sRP) historically yields poor functional outcomes and high complication rates. However, recent reports on robotic sRP show improved results.Our objectives were to evaluate sRP oncological outcomes and predictors of positive margins and biochemical recurrence (BCR).MethodsWe retrospectively collected data of sRP for recurrent prostate cancer after local nonsurgical treatment at 18 tertiary referral centers in United States, Australia and Europe, from 2000 to 2016. SM and BCR were evaluated in a univariate and multivariable analysis. Overall and cancer-specific survival were also assessed.ResultsWe included 414 cases, 63.5% of them performed after radiotherapy. Before sRP the majority of patients had biopsy Gleason score (GS) ≤7 (55.5%) and imaging negative or with prostatic bed involvement only (93.3%). Final pathology showed aggressive histology in 39.7% (GS ≥9 27.6%), with 52.9% having ≥pT3 disease and 16% pN+. SM was positive in 29.7%. Five years BCR-Free, cancer-specific survival and OS were 56.7%, 97.7% and 92.1%, respectively. On multivariable analysis pathological T (pT3a odds ratio [OR] 2.939, 95% confidence interval [CI] 1.469–5.879; ≥pT3b OR 2.428–95% CI 1.333–4.423) and N stage (pN1 OR 2.871, 95% CI 1.503–5.897) were independent predictors of positive margins. Pathological T stage ≥T3b (OR 2.348 95% CI 1.338–4.117) and GS (up to OR 7.183, 95% CI 1.906–27.068 for GS >8) were independent predictors for BCR. Limitations include the retrospective nature of the study and limited follow-up.ConclusionsIn a contemporary series, sRP showed promising oncological control in the medium term despite aggressive pathological features. BCR risk increased in case of locally advanced disease and higher GS. Future studies are needed to confirm our findings.     

Chemotherapy,targeted therapy and immunotherapy: Which drugs can be safely used in the solid organ transplant recipients?

In solid organ transplant recipients, cancer is associated with worse prognosis than in the general population. Among the causes of increased cancer-associated mortality, are the limitations in selecting the optimal anticancer regimen in solid organ transplant recipients, because of the associated risks of graft toxicity and rejection, drug-to-drug interactions, reduced kidney or liver function, and patient frailty and comorbid conditions. The advent of immunotherapy has generated further challenges, mainly because checkpoint inhibitors increase the risk of rejection, which may have life-threatening consequences in recipients of life-saving organs. In general, there are no safe or unsafe anticancer drugs. Rather, the optimal choice of the anticancer regimen results from a careful risk/benefit assessment, from the awareness of potential pharmacokinetic and pharmacodynamic drug-to-drug interactions, and of the risk of drug overexposure in patients with kidney or liver dysfunction. In this review, we summarize general principles that may help the oncologists and transplant physicians in the multidisciplinary management of recipients of solid organ transplantation with cancer who are candidates for chemotherapy, targeted therapy, or immunotherapy.     

The effect of two different speed endurance training protocols on a multiple shuttle run performance in young elite male soccer players

There is not enough evidence on the impact of different speed endurance training regimes on footballers’ ability to perform multiple shuttle run performance. This study examined the effect of 4 weeks of speed endurance maintenance (SEM) and speed endurance production (SEP) training on the 5-meter multiple shuttle run test (5-m MST) performance in young elite soccer players. A parallel two-groups, longitudinal design was used. Fifteen players were divided to either SEM (8 repetitions of 20-s all-out sprint interspersed with 40 s of recovery) or SEP (8 repetitions of 20-s all-out bout interspersed with 120 s of recovery) training group. SEM improved the ability to tolerate fatigue and maintained the performance development during the 5-m MST while SEP increased only the 1^st sprint showing, simultaneously, an increased fatigue index and performance decrement. The selection of which training regimes to prioritize should be based on the players’ characteristics and individual game requirements

Abbreviations: SEP: Speed Endurance Production; SEM: Speed Endurance Maintenance; PRE: Baseline; POST: End of experimental protocol; 5-m MST: 5-meters Multiple Shuttle Run Test; TD: Total Distance; FI: Fatigue Index; MSTdec: Percentage Decrement Score; BMI: Body Mass Index     

Radiofrequency Ablation for Renal Cancer in Von Hippel–Lindau Syndrome Patients: A Prospective Cohort Analysis

Introduction

Management of renal-cell carcinoma (RCC) in patients with Von Hippel–Lindau syndrome (VHL) represents a clinical dilemma: the oncologic outcomes must be weighed against preservation of renal function. Radiofrequency ablation (RFA) is currently used in selected cases for treatment of small-size RCC. The aim of this study was to evaluate the safety, complications, and functional and oncologic outcomes of RFA in the treatment of RCC in VHL patients.

Familial aggregation of inflammatory bowel disease in a Mediterranean area

To evaluate familial aggregation of inflammatory bowel disease (IBD) in the Mediterranean area and to estimate the disease risk in first degree relatives. 427 patients with IBD were consecutively interviewed in order to obtain a complete pedigree of first degree relatives. Sufficient information was obtained in 98% of 2,685 family members. The prevalence ratio of IBD in family members was estimated and compared to the prevalence ratio of IBD in general population; the ratio was then standardized by age since the prevalence of the disease is age-dependent. The lifetime risk was assessed by the Kaplan Meier method. Thirty index cases (7%) had at least one affected first degree relative. As compared with the general population, first degree relatives of the 427 patients with IBD had a 4.38-fold increase in the age corrected risk of having the same disease. The Kaplan-Meier curve showed a higher risk at 25 years of age for offsprings (3%) than for parents (1%) and siblings (1%) whereas the crude ratio showed a higher risk for siblings (1.9%) compared to parents (0.8%) and offsprings (1%). In the Mediterranean area, the familial prevalence of IBD is higher than in the general population and comparable to North European rates.Abbreviations CD Crohn's disease - IBD inflammatory bowel disease - UC ulcerative colitis     

Single brain metastases from unknown primary malignancies in CT-era

Summary Cerebral metastases account for about half of all intracranial neoplasms. In 33%–66% they represent the first sign of a systemic tumor. We report our experience in 100 patients with solitary brain metastasis from unknown primary malignancies treated between 1976 and 1988. All patients were treated surgically and 81 also received radiotherapy and chemotherapy. Postoperative mortality was 6%. Mean survival in those patients with unknown primary tumor at intracranial surgery was 15.3 months as compared to 31.6 months in those in whom it remained unidentified during life. The usual cause of death was growth of the systemic cancer.