Effect of Age on Outcome of Reduced-Intensity Hematopoietic Cell Transplantation for Older Patients With Acute Myeloid Leukemia in First Complete Remission or With Myelodysplastic Syndrome

Purpose Acute myelogenous leukemia (AML) and myelodysplastic syndrome (MDS) primarily afflict older individuals. Hematopoietic cell transplantation (HCT) is generally not offered because of concerns of excess morbidity and mortality. Reduced-intensity conditioning (RIC) regimens allow increased use of allogeneic HCT for older patients. To define prognostic factors impacting long-term outcomes of RIC regimens in patients older than age 40 years with AML in first complete remission or MDS and to determine the impact of age, we analyzed data from the Center for International Blood and Marrow Transplant Research (CIBMTR). Patients and Methods We reviewed data reported to the CIBMTR (1995 to 2005) on 1,080 patients undergoing RIC HCT. Outcomes analyzed included neutrophil recovery, incidence of acute or chronic graft-versus-host disease (GVHD), nonrelapse mortality (NRM), relapse, disease-free survival (DFS), and overall survival (OS). Results Univariate analyses demonstrated no age group differences in NRM, grade 2 to 4 acute GVHD, chronic GVHD, or relapse. Patients age 40 to 54, 55 to 59, 60 to 64, and >= 65 years had 2-year survival rates as follows: 44% (95% Cl, 37% to 52%), 50% (95% Cl, 41% to 59%), 34% (95% Cl, 25% to 43%), and 36% (95% Cl, 24% to 49%), respectively, for patients with AML (P = .06); and 42% (95% Cl, 35% to 49%), 35% (95% Cl, 27% to 43%), 45% (95% Cl, 36% to 54%), and 38% (95% Cl, 25% to 51%), respectively, for patients with MDS (P = .37). Multivariate analysis revealed no significant impact of age on NRM, relapse, DFS, or OS (all P>.3). Greater HLA disparity adversely affected 2-year NRM, DFS, and OS. Unfavorable cytogenetics adversely impacted relapse, DFS, and OS. Better pre-HCT performance status predicted improved 2-year OS. Conclusion With these similar outcomes observed in older patients, we conclude that older age alone should not be considered a contraindication to HCT.

Retrograde Endovascular Treatment of Internal Iliac Aneurysm in a Patient with Marfan Syndrome

To report a technique to maintain pelvic flow to an internal iliac artery (IIA) with aneurysm in a patient with Marfan syndrome, and previously treated by infrarenal abdominal aortic aneurysm open procedure. Retrograde endovascular hypogastric artery preservation (REHAP) through flexible endograft implantation from external iliac artery (EIA) to internal iliac artery (IIA) was used. REHAP was a reasonable, minimally invasive and elegant alternative (new) to maintain pelvic arterial flow in Marfan syndrome. However, the long-term durability is unknown, and so, it should be used in selected patients.

Pituitary Apoplexy After a Single Dose of Long-Acting Octreotide

Pituitary apoplexy (PA) is a rare and potentially life-threatening syndrome resulting from an acute infarction or hemorrhage of the pituitary gland. Although the pathogenesis is not fully understood, some predisposing factors such as pituitary stimulation tests, diabetes mellitus, anticoagulant or antiplatelet aggregation therapy, head trauma, and high blood pressure may play a role in its pathophysiology. Octreotide is the mainstay of medical treatment for acromegaly. The majority of reported complications of octreotide therapy are gastrointestinal. We report the case of a 51-year-old acromegalic woman who developed pituitary apoplexy within the context of high blood pressure and a single dose of long-acting octreotide. Our data suggest that the combination of hypertension and octreotide therapy enhances the risk of pituitary apoplexy.

Clinical presentation and salivary gland histopathology of paediatric primary Sjogren's syndrome

ObjectiveExplore the presentation, diagnostic criteria and exocrine gland histopathology of paediatric primary Sjogren's syndrome (PPSjS).MethodsA case series of 8 children is reported and American-European Consensus Group (AECG-2002) criteria were examined, as well as minor labial salivary and lachrymal gland biopsies, which were scored by a pathologist blinded to outcome. For all cases, connective tissue diseases and parotid-related infectious disease were excluded.ResultsAge at onset varied from 5-13 years old; 6 were females, all followed from diagnosis up to the last visit (1-10 years). The main features at presentation were recurrent tender parotid swelling and sialectasis imaging, with decreased salivary function assessed by Tc-99 scintigraphy. Mild sicca symptoms were observed in 4/8 cases. Systemic features, including fatigue, myalgia, arthritis, tenosynovitis, joint contractures, transient Raynaud's and high ESR, were recorded at onset. Autoantibody profile was unremarkable for diagnosis, while lymphocytic infiltration of labial salivary glands and sialectasis were observed in all biopsies (8/8). In lachrymal glands, massive lymphocytic infiltration and lymphocytic gastritis were observed during complementary assessment. Flares were treated with low dose steroids and long-term use of hydroxychloroquine (5/8), although only 318 fulfilled AECG-2002 diagnostic criteria, throughout the disease course.ConclusionPPSjS is rare, slowly progressive and its early presentation is variable. Standardised diagnostic algorithms should include recurrent parotid swelling and early diagnosis should rely mostly on salivary and lachrymal gland histopathology in this age group.

Pediatric Antiphospholipid Syndrome: Clinical and Immunologic Features of 121 Patients in an International Registry

OBJECTIVES. The purpose of this study was to obtain data on the association of antiphospholipid antibodies with clinical manifestations in childhood and to enable future studies to determine the impact of treatment and long-term outcome of pediatric antiphospholipid syndrome.PATIENTS and METHODS. A European registry extended internationally of pediatric patients with antiphospholipid syndrome was established as a collaborative project of the European Antiphospholipid Antibodies Forum and Lupus Working Group of the Pediatric Rheumatology European Society. To be eligible for enrollment the patient must meet the preliminary criteria for the classification of pediatric antiphospholipid syndrome and the onset of antiphospholipid syndrome must have occurred before the patient's 18th birthday.RESULTS. As of December 1, 2007, there were 121 confirmed antiphospholipid syndrome cases registered from 14 countries. Fifty-six patients were male, and 65 were female, with a mean age at the onset of antiphospholipid syndrome of 10.7 years. Sixty (49.5%) patients had underlying autoimmune disease. Venous thrombosis occurred in 72 (60%), arterial thrombosis in 39 (32%), small-vessel thrombosis in 7 (6%), and mixed arterial and venous thrombosis in 3 (2%). Associated nonthrombotic clinical manifestations included hematologic manifestations (38%), skin disorders (18%), and nonthrombotic neurologic manifestations (16%). Laboratory investigations revealed positive anticardiolipin antibodies in 81% of the patients, anti-beta(2)-glycoprotein I antibodies in 67%, and lupus anticoagulant in 72%. Comparisons between different subgroups revealed that patients with primary antiphospholipid syndrome were younger and had a higher frequency of arterial thrombotic events, whereas patients with antiphospholipid syndrome associated with underlying autoimmune disease were older and had a higher frequency of venous thrombotic events associated with hematologic and skin manifestations.CONCLUSIONS. Clinical and laboratory characterization of patients with pediatric antiphospholipid syndrome implies some important differences between antiphospholipid syndrome in pediatric and adult populations. Comparisons between children with primary antiphospholipid syndrome and antiphospholipid syndrome associated with autoimmune disease have revealed certain differences that suggest 2 distinct subgroups. Pediatrics 2008; 122: e1100-e1107

Comparison Between the Polymerase Chain Reaction-Based Screening and the Southern Blot Methods for Identification of Fragile X Syndrome

The fragile X syndrome (FXS), the most common cause of hereditary mental retardation, is caused by expansions of CGG repeats in the FMR1 gene. The gold-standard method to diagnose FXS is the Southern blot (SB). Because SB is laborious and costly, some adaptations in the polymerase chain reaction (PCR) method have been utilized for FXS screening. A previous PCR-based screening method for FXS identification utilizing small amounts of DNA was reported as simple and efficient. The aim of this study was to reproduce the mentioned PCR-based screening method for identification of expanded alleles of the FMR1 gene in Brazilian individuals and to investigate the efficiency of this method in comparison with SB. Utilizing the enzyme Expand Long Template PCR System, 78 individuals were investigated by that PCR-based screening method for FXS identification. Conclusive results were obtained for 75 samples. Considering all the allelic forms of FXS (normal [NL], premutation [PM], and full-mutation [FM]), the comparison of the PCR-based screening method with SB demonstrated 100% of accuracy, sensitivity, and specificity. However, when the PM and the FM were analyzed separately from each other, but together with the NL allele, the accuracy, sensitivity, and specificity decreased (to 42.9%-97.4%). We concluded that the PCR-based screening method was reproducible and capable of identifying all different FXS alleles, but because the differentiation between the PM and the FM alleles was not accurate, SB is still the gold-standard method for the molecular diagnosis of FXS.

NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME

We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachy-camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. (C) 1994 Wiley-Liss, Inc.

Cauda equina syndrome after spinal tetracaine: Electromyographic evaluation-20 years follow-up

CAUDA equina syndrome (CES) has long been recognized as a rare complication of spinal anesthesia.(1) CES has been described after administration of spinal anesthetics with lidocaine(2) and bupivacaine.(3) In 1991,(4) CES was reported after continuous spinal anesthesia with 1% tetracaine. In 1980, at our university hospital, six adult female patients underwent perineal gynecologic surgery using a spinal anesthetic of 2 ml tetracaine, 1.2%, in 10% glucose. The concentration of the injected tetracaine was unknown by the anesthetists. In all cases, lumbar puncture was performed at the L3-L4 interspace with a disposable spinal needle while the patients were in the sitting position. CES was first diagnosed 72 h or later postoperatively; previous diagnosis was not possible because patients had an indwelling urethral catheter. The diagnosis of CES was confirmed in all patients. During the past year, after institutional approval and informed consent, clinical, magnetic resonance imaging, electromyographic examinations, and conduction studies were performed in three of the above patients. Examinations were not possible on the other three patients because one had recently died, another could not be located, and the third refused to participate. T1 and T2 magnetic resonance image readings were obtained with Gadolinium contrast from a 0.5 Tesla General Electric apparatus (General Electric, Tokyo, Japan). Bilateral sensory and motor conduction studies of the sciatic nerve branches were obtained using a two-channel Nihon-Kohden Neuropack 2 (Nihom-Kohden Corporation, Tokyo, Japan). Electromyography was performed in accordance with conventional techniques.(5,6)

Observational study on efficacy of negative expiratory pressure test proposed as screening for obstructive sleep apnea syndrome among commercial interstate bus drivers - protocol study

Background: Obstructive sleep apnea (OSA) is a respiratory disease characterized by the collapse of the extrathoracic airway and has important social implications related to accidents and cardiovascular risk. The main objective of the present study was to investigate whether the drop in expiratory flow and the volume expired in 0.2 s during the application of negative expiratory pressure (NEP) are associated with the presence and severity of OSA in a population of professional interstate bus drivers who travel medium and long distances.Methods/Design: An observational, analytic study will be carried out involving adult male subjects of an interstate bus company. Those who agree to participate will undergo a detailed patient history, physical examination involving determination of blood pressure, anthropometric data, circumference measurements (hips, waist and neck), tonsils and Mallampati index. Moreover, specific questionnaires addressing sleep apnea and excessive daytime sleepiness will be administered. Data acquisition will be completely anonymous. Following the medical examination, the participants will perform a spirometry, NEP test and standard overnight polysomnography. The NEP test is performed through the administration of negative pressure at the mouth during expiration. This is a practical test performed while awake and requires little cooperation from the subject. In the absence of expiratory flow limitation, the increase in the pressure gradient between the alveoli and open upper airway caused by NEP results in an increase in expiratory flow.Discussion: Despite the abundance of scientific evidence, OSA is still underdiagnosed in the general population. In addition, diagnostic procedures are expensive, and predictive criteria are still unsatisfactory. Because increased upper airway collapsibility is one of the main determinants of OSA, the response to the application of NEP could be a predictor of this disorder. With the enrollment of this study protocol, the expectation is to encounter predictive NEP values for different degrees of OSA in order to contribute toward an early diagnosis of this condition and reduce its impact and complications among commercial interstate bus drivers.

Long-term nutrition education reduces several risk factors for type 2 diabetes mellitus in Brazilians with impaired glucose tolerance

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Interstitial long-arm deletion of chromosome 7 and ectrodactyly

An interstitial deletion of 7q21 was found in a boy with mental retardation, microcephaly, convergent strabismus, micrognathia, genital anomalies, and other findings, including ectrodactyly.

The hemolytic uremic syndrome as a complication of adriamycin nephropathy

Rats treated with two injections of adriamycin (week 0 and week 12) developed glomerusclerosis and severe tubulointerstitial lesions as described in the literature. In addition, a number of glomerular alterations were present. These included capillary loop dilation, insudation of eosinophilic material, necrosis, duplication of the glomerular basement membrane, severe mesangiolysis with disruption of the mesangial matrix and segmental double- contours. The renal arterioles and interlobular arteries showed endothelial cell swelling. The subendothelial space was infiltrated by fibrinoid material and there was intensive fibrinoid necrosis of the wall of both arteries and arterioles extending into the glomerular tuft. These alterations were very similar to those observed in the hemolytic uremic syndrome. This observation suggests that the two injections of adriamycin, with a long interval in between them, might induce renal lesions similar to those observed in the hemolytic uremic syndrome.

A systematic review of anti-inflammatories for mild to moderate carpal tunnel syndrome

The purpose of this study was to evaluate anti-inflammatory drugs in the medium- and long-term management of mild to moderate carpal tunnel syndrome (CTS). The authors conducted a systematic review of the literature on the effectiveness of steroidal and nonsteroidal anti-inflammatory drugs for mild and moderate cases of CTS. There were included only randomized, double-blind clinical trials. Six publications referring to five trials were included in the review. No study on nonsteroidal anti-inflammatory drugs met our inclusion criteria. Although neurophysiological studies have not shown great differences resulting from the application of corticosteroids, the symptomatic benefit provided by such drugs is clear. In the short term, local infiltration provides better results than systemic administration of corticosteroids. Over a 1-year period, however, this difference does not persist. Further double-blind randomized trials evaluating therapeutic efficacy for a longer follow-up period are required to provide stronger evidence for both steroidal and nonsteroidal anti-inflammatories. © 2009 by Lippincott Williams & Wilkins.

Patellofemoral pain syndrome: Electromyography in a frequency domain analysis

The Patellofemoral Pain Syndrome (PFPS), has a multifactorial etiology and affects approximately 7 to 15% of the population, mostly women, youth, adults and active persons. PFPS causes anterior or retropatelar pain that is exacerbated during functional motor gestures, such as up and down stairs or spending long periods of time sitting, squatting or kneeling. As the diagnostic evaluation of this syndrome is still indirect, different mechanisms and methodologies try to make a classification that distinguishes patients with PFPS in relation to asymptomatic. Thereby, the purpose of this investigation was to determine the characteristics of the electromyographic (EMG) signal in the frequency domain of the vastus medialis oblique (VMO) and vastus lateralis (VL) in patients with PFPS, during the ascent of stairs. 33 young women (22 control group and 11 PFPS group), were evaluated by EMG during ascent of stairs. The VMO mean power frequency (MPF) and the VL frequency 95% (F95) were lower in symptomatic individuals. This may be related to the difference in muscle recruitment strategy exerted by each muscle in the PFPS group compared to the control group.

Long-term clinical and ultrasonographic evaluation of thrombophilic patients with deep venous thrombosis

OBJECTIVE:The purpose of this study was to evaluate the long term clinical and ultrasonographic outcomes of thrombophilic patients with deep venous thrombosis (DVT).METHOD:Cohort study, retrospective case-control with cross-sectional analysis. Thirty-nine thrombophilic patients and 25 non-thrombophilic patients were assessed 76.3 ± 45.8 months after diagnosis. Demographic and family data were collected, as well as data from clinical and therapeutic progress, and physical and ultrasound examinations of the limbs were performed. Groups were matched for age and gender and the variables studied were compared across groups.RESULTS:Deep venous thrombosis was more frequent in women. The most common thrombophilias were antiphospholipid syndrome and factor V Leiden mutation. There was no difference between groups in terms of the number of pregnancies or miscarriages and the majority of women did not become pregnant after DVT. Non-spontaneous DVT prevailed. Proximal DVT and DVT of the left lower limb were more frequent, and the main risk factor was use of oral contraceptives. All patients were treated with anticoagulation. There was a higher frequency of pulmonary embolism in non-thrombophilic patients. Most patients considered themselves to have a normal life after DVT and reported wearing elastic stockings over at least 2 years. Seventy-one percent of patients had CEAP > 3, with no difference between groups. Deep venous reflux was more frequent in thrombophilic patients.CONCLUSION:There were no significant differences between groups with respect to most of the variables studied, except for a higher frequency of pulmonary embolism in non-thrombophilic patients and greater frequency of deep venous reflux in thrombophilic patients.