Gidon Berger and Richard G. Wunderink
Daniel Silverberg, Tal Yalon, Uri Rimon, Emanuel R. Reinitz, Dmitry Yakubovitch, Jacob Schneiderman and Moshe Halak
Background: Peripheral arterial occlusive disease is common in patients with chronic renal failure requiring dialysis. Despite the increasing use of endovascular revascularization for lower extremity ischemia, the success rates of treating lower extremity ischemia in this challenging population remain obscure.
Objectives: To assess the results of endovascular revascularization for lower extremity ischemia in dialysis patients.
Methods: We conducted a retrospective review of all dialysis patients who underwent endovascular treatment for critical limb ischemia (CLI) in our institution between 2007 and 2011. Data collected included comorbidities, clinical presentation, anatomic distribution of vascular lesions, amputation and survival rates.
Results: We identified 50 limbs (41 patients). Indications included: gangrene in 22%, non-healing wounds in 45%, rest pain in 31%, and debilitating claudication in 4%. Mean follow-up was 12 months (1–51 months). Nineteen patients required amputations. Freedom from amputation at 5 years was 40%. Factors associated with amputation included non-healing wounds or gangrene (68% and 36% respectively) and diabetes (P < 0.05). The survival rate was 80% after 5 years.
Conclusions: Despite improvement in endovascular techniques for lower extremity revascularization, the incidence of limb salvage among dialysis patients remains poor, resulting in a high rate of major amputations.
Sergiu C. Blumen, Anat Kesler, Ron Dabby, Stavit Shalev, Chaiat Morad, Yechoshua Almog, Joseph Zoldan, Felix Benninger, Vivian E. Drory, Michael Gurevich, Menachem Sadeh, Bernard Brais and Itzhak Braverman
Background: Oculopharyngeal muscular dystrophy (OPMD) produced by the (GCG)13 expansion mutation in the PABPN1 gene is frequent among Uzbek Jews in Israel.
Objectives: To describe the phenotypic and genotypic features in five Bulgarian Jewish patients, from different families, with autosomal dominant OPMD.
Methods: We performed clinical follow-up, electrodiagnostic tests and mutation detection. Blood samples were obtained after informed consent and DNA was extracted; measurement of GCG repeats in both PABPN1 alleles and sequencing of OPMD mutations were performed according to standard techniques.
Results: We identified five patients (four females), aged 58 to 71 years, with bilateral ptosis, dysphagia, dysphonia (n=3) and myopathic motor units by electromyography. In all patients we noticed proximal weakness of the upper limbs with winging scapulae in three of them. All cases shared the (GCG)13-(GCG)10 PABPN1 genotype.
Conclusions: OPMD among Bulgarian Jews is produced by a (GCG)13 expansion, identical to the mutation in Uzbek Jews and French Canadians. In addition to the classical neurological and neuro-ophthalmological features, early shoulder girdle weakness is common in Bulgarian Jewish patients; this is an unusual feature during the early stages of OPMD produced by the same mutation in other populations. We suggest that besides the disease-producing GCG expansion, additional ethnicity-related genetic factors may influence the OPMD phenotype. OPMD is a rare disease, and the identification of five affected families in the rather small Bulgarian Jewish community in Israel probably represents a new cluster; future haplotype studies may elucidate whether a founder effect occurred.
Osamah Hussein, Jamal Zidan, Michael Plich, Hana Gefen, Roberto Klein, Karina Shestatski, Kamal Abu-Jabal and Reuven Zimlichman
Background: Coronary slow flow phenomenon (CSFP) is a functional and structural disease that is diagnosed by coronary angiogram.
Objectives: To evaluate the possible association between CSFP and small artery elasticity in an effort to understand the pathogenesis of CSFP.
Methods: The study population comprised 12 patients with normal coronary arteries and CSFP and 12 with normal coronary arteries without CSFP. We measured conjugated diene formation at 234 nm during low density lipoprotein (LDL) oxidation, as well as platelet aggregation. We estimated, non-invasively, arterial elasticity parameters. Mann-Whitney non-parametric test was used to compare differences between the groups. Data are presented as mean ± standard deviation.
Results: Waist circumference was 99.2 ± 8.8 cm and 114.9 ± 10.5 cm in the normal flow and CSFP groups, respectively (P = 0.003). Four patients in the CSFP group and 1 in the normal flow group had type 2 diabetes. Area under the curve in the oral glucose tolerance test was 22% higher in the CSFP than in the normal group (P = 0.04). There was no difference in systolic and diastolic blood pressure, plasma concentrations of total cholesterol, triglycerides, high density lipoprotein, LDL and platelet aggregation parameters between the groups. Lag time required until initiation of LDL oxidation in the presence of CuSO4 was 17% longer (P = 0.02) and homocysteine fasting plasma concentration was 81% lower (P = 0.05) in the normal flow group. Large artery elasticity was the same in both groups. Small artery elasticity was 5 ± 1.5 ml/mmHgx100 in normal flow subjects and 6.1 ± 1.9 ml/mmHgx100 in the CSFP patients (P = 0.02).
Conclusions: Patients with CSFP had more metabolic derangements. Arterial stiffness was not increased in CSFP.
Eduard Ling, Shachaf Ofer-Shiber, Or Goren and Yair Molad
Background: Tight control of disease activity is the recommended target of therapy for rheumatoid arthritis (RA).
Objectives: To determine the outcome of RA with respect to disease activity and the rate of remission, as measured by the DAS-28, in a real-world inception cohort.
Methods: We conducted an observational cross-sectional study of a single-center real-world inception cohort of 101 consecutive patients being treated for RA in 2009–2010 in a rheumatology outpatient clinic. Patients were managed at the discretion of the attending rheumatologist with the goal of achieving remission. DAS-28 scores were calculated and analyzed by clinical and treatment variables derived from the medical files.
Results: Mean patient age was 58.6 ± 13.4 years and mean duration of disease 10.7 ± 7.9 years. Disease remission (DAS-28 < 2.6) was achieved in 26.7% of patients and low disease activity (> 2 .6 DAS-28 < 3.2) in 17%. Monotherapy with a conventional disease-modifying anti-rheumatic drug (C-DMARD, 21% of patients at last follow-up) was associated with a significantly lower mean DAS-28 score and C-reactive protein level than combined C-DMARD treatment (79% of patients), and with shorter disease duration than combined treatment with C-DMARDs or C-DMARD(s)+biological DMARD (40% of patients). Rheumatoid factor and anti-cyclic citrullinated peptide positivity had no effect on DAS-28 scores. Time from diagnosis was inversely correlated with DAS-28 scores.
Conclusions: The achievement of low disease activity and remission in a significant portion of our inception cohort of patients with RA suggests that the treat-to-target strategy is feasible and effective in routine clinical practice.
Yael Milgrom, Gideon Goldman, Alex Gileles Hillel, Pojurovsky Svetlana and Zvi Ackerman