Skin problems associated with pegylated liposomal doxorubicin-more than palmoplantar erythrodysesthesia syndrome.

Liposomal pegylated doxorubicin is an encapsulation form of doxorubicin, with an improved pharmacokinetic profile and the ability to selectively accumulate into tumor tissue. As a result, the tolerated dose of the drug can be increased, followed by a reduced incidence of neutropenia and cardiotoxicity in comparison to doxorubucin treatment. However, a common adverse dose-schedule limiting effect of the treatment is palmoplantar erythrodysesthesia syndrome. In this retrospective study we included six patients hospitalised in the University Hospital of Zurich during the last 2 years, in connection with side effects caused by pegylated liposomal doxorubicin. These patients received this chemotherapeutic agent for treatment of various malignancies such as breast cancer, ovarian cancer, mycosis fungoides and cutaneous B-cell lymphoma. Three of six patients in this study developed classical palmoplantar erythrodysesthesia, one developed palmoplantar erythrodysesthesia associated with extensive bullous disease, one developed eruption of lymphocyte recovery syndrome and one developed intertrigo like dermatitis with stomatitis. Pegylated liposomal doxorubicin induces various skin reactions including palmoplantar erythrodysesthesia syndrome. However, the exact clinical presentation might depend on pre-existing skin diseases.

Audit report on the City of Van Horne, Iowa for the year ended June 30, 2007

Audit report on the City of Van Horne, Iowa for the year ended June 30, 2007

Prevalence of restless legs syndrome in female blood donors 1 week after blood donation.

BACKGROUND AND OBJECTIVE: Restless legs syndrome (RLS) is a frequent condition with a prevalence of 5-15% in the general population. Clinical and genetic observations have shown that iron deficiency, highly prevalent among blood donors, can be related to RLS. The objective of this study was to assess the prevalence of RLS in female blood donors 1 week after blood donation. METHODS: One week after blood donation, 291 female blood donors, aged <50 years, self-responded to all four RLS questions defined by the 1995 International RLS study group. Blood donation rate, fatigue, aerobic capacity, menstruation, mood disorder and quality of life were also assessed along with haemoglobin and ferritin blood concentrations. RESULTS: Prevalence of RLS in female blood donors 1 week after blood donation was 6·9% (CI 95% 4·2-10·4%). Female blood donors with RLS had a higher prevalence of hyper-menorrhaea (P = 0·033) and were significantly more tired (P = 0·001). We observed no associations between RLS and number of previous donations (P = 0·409), aerobic capacity (P = 0·476), mood disorder (P = 0·169), quality of life (P = 0·356), haemoglobin (P = 0·087), and serum ferritin level (P = 0·446). CONCLUSION: Restless legs syndrome prevalence in female blood donors is not as important as described in some other studies, which could reassure blood donors. The prevalence of hypermenorrhaea and fatigue is higher in RLS blood donors. Therefore, screening for fatigue and hypermenorrhaea could be considered as these symptoms are associated with RLS in female blood donors.

Décollement de rétine rhegmatogène et hypertonie: penser au syndrome de Schwartz-Matsuo [Rhegmatogenous retinal detachment and hypertension: Schwartz-Matsuo syndrome]

PURPOSE: To assess the usefulness of electron microscopy of the aqueous cells when confronted with the clinical association of rhegmatogenous retinal detachment after trauma, high intraocular pressure (IOP) and aqueous cells. METHOD: We report a clinical history of a 50-years-old man who had ocular trauma with perforation in 1944, intraocular lens for traumatic cataract in 1988, Yag capsulotomy in 1993 and retinal detachment with oral dialysis, high IOP and aqueous cells in anterior chamber in 1995. During the surgical therapy we performed an anterior chamber puncture to analyse the aqueous cells. An electron microscopic study was performed on 0.2 ml of aqueous humor mixed in the same volume of 2.5% glutaraldehyde and fixed with 1% osmium acid. RESULTS: Electron microscopic ultrastructural study of the aqueous cells showed numerous photoreceptor outer segments, some of them appearing degenerated. CONCLUSION: The combination of rhegmatogenous retinal detachment with tears near the ora serrata, high IOP and aqueous cells in the anterior chamber should lead the physician to do an anterior chamber puncture and analyse the aqueous cells structure. The combination of those three clinical signs associated with the photoreceptor outer segments in the anterior chamber allowed to diagnose the Schwartz-Matsuo syndrome.

Serum procalcitonin as a marker of post-cardiac arrest syndrome and long-term neurological recovery, but not of early-onset infections, in comatose post-anoxic patients treated with therapeutic hypothermia.

OBJECTIVE: To examine the relationship of early serum procalcitonin (PCT) levels with the severity of post-cardiac arrest syndrome (PCAS), long-term neurological recovery and the risk of early-onset infections in patients with coma after cardiac arrest (CA) treated with therapeutic hypothermia (TH). METHODS: A prospective cohort of adult comatose CA patients treated with TH (33°C, for 24h) admitted to the medical/surgical intensive care unit, Lausanne University Hospital, was studied. Serum PCT was measured early after CA, at two time-points (days 1 and 2). The SOFA score was used to quantify the severity of PCAS. Diagnosis of early-onset infections (within the first 7 days of ICU stay) was made after review of clinical, radiological and microbiological data. Neurological recovery at 3 months was assessed with Cerebral Performance Categories (CPC), and was dichotomized as favorable (CPC 1-2) vs. unfavorable (CPC 3-5). RESULTS: From December 2009 to April 2012, 100 patients (median age 64 [interquartile range 55-73] years, median time from collapse to ROSC 20 [11-30]min) were studied. Peak PCT correlated with SOFA score at day 1 (Spearman's R=0.44, p<0.0001) and was associated with neurological recovery at 3 months (peak PCT 1.08 [0.35-4.45]ng/ml in patients with CPC 1-2 vs. 3.07 [0.89-9.99] ng/ml in those with CPC 3-5, p=0.01). Peak PCT did not differ significantly between patients with early-onset vs. no infections (2.14 [0.49-6.74] vs. 1.53 [0.46-5.38]ng/ml, p=0.49). CONCLUSIONS: Early elevations of serum PCT levels correlate with the severity of PCAS and are associated with worse neurological recovery after CA and TH. In contrast, elevated serum PCT did not correlate with early-onset infections in this setting.

Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.

CONTEXT: Many inherited disorders of calcium and phosphate homeostasis are unexplained at the molecular level. OBJECTIVE: The objective of the study was to identify the molecular basis of phosphate and calcium abnormalities in two unrelated, consanguineous families. PATIENTS: The affected members in family 1 presented with rickets due to profound urinary phosphate-wasting and hypophosphatemic rickets. In the previously reported family 2, patients presented with proximal renal tubulopathy and hypercalciuria yet normal or only mildly increased urinary phosphate excretion. METHODS: Genome-wide linkage scans and direct nucleotide sequence analyses of candidate genes were performed. Transport of glucose and phosphate by glucose transporter 2 (GLUT2) was assessed using Xenopus oocytes. Renal sodium-phosphate cotransporter 2a and 2c (Npt2a and Npt2c) expressions were evaluated in transgenically rescued Glut2-null mice (tgGlut2-/-). RESULTS: In both families, genetic mapping and sequence analysis of candidate genes led to the identification of two novel homozygous mutations (IVS4-2A>G and R124S, respectively) in GLUT2, the gene mutated in Fanconi-Bickel syndrome, a rare disease usually characterized by renal tubulopathy, impaired glucose homeostasis, and hepatomegaly. Xenopus oocytes expressing the [R124S]GLUT2 mutant showed a significant reduction in glucose transport, but neither wild-type nor mutant GLUT2 facilitated phosphate import or export; tgGlut2-/- mice demonstrated a profound reduction of Npt2c expression in the proximal renal tubules. CONCLUSIONS: Homozygous mutations in the facilitative glucose transporter GLUT2, which cause Fanconi-Bickel syndrome, can lead to very different clinical and biochemical findings that are not limited to mild proximal renal tubulopathy but can include significant hypercalciuria and highly variable degrees of urinary phosphate-wasting and hypophosphatemia, possibly because of the impaired proximal tubular expression of Npt2c.

Prévention du syndrome post-thrombotique [Prevention of post-thrombotic syndrome].

Post-thrombotic syndrome (PTS) is the most frequent chronic complication of deep vein thrombosis (DVT) with an estimated prevalence of 30-50%. PTS is a significant cause of disability, especially when complicated by venous ulcers. Therefore, PTS has important socio-economic consequences for both the patient and the health care system. Actually, the efficacy of PTS treatment is very limited; therefore, best treatment remains prevention. Compression therapy, particularly by graduated compression stockings (GCS) has a pivotal role in PTS prophylaxis. Aim of this article is to resume state of the art literature on this subject. Recommendations on PTS prevention have even been reported.

Audit report on the City of Van Meter, Iowa for the year ended June 30, 2008

Audit report on the City of Van Meter, Iowa for the year ended June 30, 2008

Tubular Dysfunction in Idiopathic Nephrotic Syndrome

Objectives: To evaluate the degree of tubular involvement in INS at various stage of the disease. Methods: 19 patients with INS were studied. 13 were steroid responders (group 1). 5 of them had biopsy which showed MCD. 6 patients were non responder to steroid or were steroid dependant with frequent relapses (group 2). Biopsies showed 3 FSGS and 3 MCD. They were treated with prednisone, ciclosporin and/ or mycofenolate mofetil. Protein, microalbumin (ALB), alpha-microglobulin (AMG), N-acetyl-beta-D-glucosaminidase (NAG) and creatinine (cr) were measured in each urine sample. Patients were considered in remission if prot/ cr ratio (g/mol) was < 20 (group 1a and 2a), and in relapse if the ratio was > 200 (group 1c and 2c). Some patients in group 1 had non nephrotic proteinuria (group 1b). Tubular dysfunction was defi ned by NAG/cr ratio (mg/mmol) > 0.86 or by AMG/cr ratio (mg/mmol) > 1.58. Results: Prot/cr ALB/cr NAG/cr AMG/cr Group 1a 10.3 ± 4.1 1.1 ± 1.0 0.19 ± 0.12 1.40 ± 0.97 Group 1b 60.4 ± 63.4 42.8 ± 66.7 0.39 ± 0.21 1.20 ± 0.56 Group 1c 713.3 ± 276.8 799.8 ± 534.9 2.25 ± 1.86* 4.25 ± 2.09* Group 2a 11.3 ± 6.1 4.7 ± 5.7 0.26 ± 0.19 1.18 ± 0.60 Group 2c 914.9 ± 718.6 682.9 ± 589.3 3.00 ± 2.72* 5.47 ± 4.30* Results are mean ± SD, p < 0.001 compared to group 1a and 2a No difference was observed between group 1 and group 2 neither in remission nor in relapse. Conclusions: These data indicate that tubular dysfunction occurs in INS but only in patients in relapse. In this population, tubular dysfunction was independent of the severity of the nephrotic syndrome, the treatment protocol and the histopathology.

Catalogue des dessins anciens du Moyen-Age et de la Renaissance (XVe et XVIe siècles), Oeuvres de J. Amman, B. Beham, P. Brueghel, H. Burgkmair, L. Cambiaso, J. Cousin, A. Durer, H. Goltzius, U. Graf, Lagneau, E. de Laune, F. Mazzuola, M. Ostendrofer, J. Palma, Le Primatice, B. Ramenghi, D. Robusti, J. Romain, T. Stimmer, P. Vénronèse, L. de Vinci, etc., etc. ; Dessins, pastels, aquarelles des XVIIe et XVIIIe siècle par N. Berchem, Brauwer, A. Guyp, Dumonstier, C. Dusart, A. Van Dyck, J.-H. Fragonard, Cl. Gellée, Van Goyen, J. Jordaens, J. Lievens, G. Metzu, I. Moucheron, R. Nanteuil, A. Van Ostade, A. Pajou, J.-B. Perronneau, P. Potter, N. Poussin, Rembrandt, P.-P. Rubens, J. Ruysdael, G.-B. Tiepolo, A. et W. Van de Velde, C. Visscher, A. Watteau, etc., etc., composant la collection de M. A. Beurdeley et dont la vente [6e vente] aux enchères publiques, après décès, aura lieu Galerie Georges Petit, 8, rue de Sèze, les mardi 8, mercredi 9 et jeudi 10 juin 1920 / Commissaires-priseurs, Me F. Lair-Dubreuil, Me Henri Baudoin ; experts M. Jules Féral, M. Marius Paulme ; [préface de Marcel Nicolle]

[Vente (Art). 1920-06-08 - 1920-06-10. Paris]

Formes cliniques du syndrome de Ménière / par M. Lannois,... F. Chavanne,...

Collection : Collection C. Chauveau

Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit.

OBJECTIVE: The aim of the study was to search for mutations of SCNN1B and SCNN1G in an Italian family with apparently dominant autosomal transmission of a clinical phenotype consistent with Liddle's syndrome. METHODS: Genetic analysis was performed in the proband, his relatives, and 100 control subjects. To determine the functional role of the mutation identified in the proband, we expressed the mutant or wild-type epithelial sodium channel in Xenopus laevis oocytes. RESULTS: A novel point mutation, causing an expected substitution of a leucine residue for the second proline residue of the conserved PY motif (PPP x Y) of the beta subunit was identified in the proband. The functional expression of the mutant epithelial sodium channel in X. laevis oocytes showed a three-fold increase in the amiloride-sensitive current as compared with that of the wild-type channel. CONCLUSION: This newly identified mutation adds to other missense mutations of the PY motif of the beta subunit of the epithelial sodium channel, thus confirming its crucial role in the regulation of the epithelial sodium channel. To our knowledge, this is the first report of Liddle's syndrome in the Italian population, confirmed by genetic and functional analysis, with the identification of a gain-of-function mutation not previously reported.