Treating Fragile X syndrome with the diuretic bumetanide: a case report

We report that daily administration of the diuretic NKCC1 chloride co‐transporter, bumetanide, reduces the severity of autism in a 10‐year‐old Fragile X boy using CARS, ADOS, ABC, RDEG and RRB before and after treatment. In keeping with extensive clinical use of this diuretic, the only side effect was a small hypokalaemia. A double‐blind clinical trial is warranted to test the efficacy of bumetanide in FRX. Conclusion: This single case report showed an improvement of the scores of each test used after 3 months of treatment. Double‐blind clinical trials are warranted to test the efficacy of bumetanide in FRX.     

Prevalence of Thoracic Aortic Aneurysms in Patients with Degenerative Abdominal Aortic Aneurysms: Results from the Prospective ACTA Study

1. Download : Download high-res image (137KB)
2. Download : Download full-size image

     

Actinomyces graevenitzii pulmonary abscess mimicking tuberculosis in a healthy young man

Pulmonary actinomycosis is a rare disease that is often misdiag-nosed as tuberculosis or lung cancer. Actinomyces graevenitzii is a relatively new recognized Actinomyces species isolated from various clinical samples. The authors report a case of pulmonary actinomycosis caused by A graevenitzii. A computed tomography examination revealed an excavated consolidation in the middle right lobe of a previously healthy young man who presented with a long history of moderate cough. Cultures of the bronchoalveolar lavage fluid confirmed the diagnosis of pulmonary abscess caused by A gravenitzii. At the three-month follow-up consultation and, after six weeks of high-dose amoxicillin, the pulmonary lesion had completely disappeared.     

Flagellate Dermatitis in a Child Most Likely Secondary to Doxorubicin

Flagellate dermatitis, a cutaneous eruption in which the patient appears to have been whipped, has been described with antineoplastic agents and shiitake mushroom ingestion. A 15‐year‐old girl with metastatic Ewing sarcoma developed pruritic erythematous linear lesions on her trunk that became hyperpigmented over time during her first cycle of chemotherapy with doxorubicin, vincristine, cyclophosphamide, and ganitumab. Flagellate dermatitis was diagnosed based on clinical and histologic findings. Flagellate dermatitis (FD) is a rare cutaneous eruption named for its appearance, in which the patient appears to have been whipped. It has been associated with chemotherapeutic agents such as bleomycin 1 . We report FD in a child that occurred during chemotherapy treatment that included doxorubicin.     

Long-term single procedure efficacy of catheter ablation of atrial fibrillation

Background Two important limitations of the data regarding the outcomes of catheter ablation of atrial fibrillation (AF) are the short-term follow-up used in most published studies and the lack of single-procedure outcomes.Objective The objective was to report the long-term single-procedure outcomes at our center.Materials and methods The patient population was comprised of 200 consecutive patients who underwent ablation (133 men; age 56 ± 11 years). Atrial fibrillation was paroxysmal in 92 (46%). Success was defined as absence of symptomatic AF, off antiarrhythmic drug (AAD) after a single procedure.Results After a follow-up of 26 ± 11 months, the single-procedure long-term success rate was 28% with an additional 7% of patients demonstrating improvement. After including repeat procedures in 64 patients, the overall long-term success rate was 41% with 11% demonstrating improvement. Further subgroup analysis of 48 paroxysmal AF patients considered to be optimal candidates for the procedure, revealed a long-term success rate of 69% with an additional 4% demonstrating improvement. A major complication occurred in 7.9% of patients.Conclusion The results reveal that the long-term single-procedure success rate of catheter ablation of AF in a cohort of patients with predominantly non-paroxysmal AF is less than 40%. The inclusion of redo procedures resulted in an improvement in outcomes. A much higher success rate of 69% was achieved in patients with paroxysmal AF considered to be optimal candidates for this procedure. These results make it clear that further advances in the technique of catheter ablation of AF are needed to improve the safety and efficacy of this procedure. In order to be able to compare outcomes of various techniques in differing patient populations, we urge investigators to report long-term single procedure outcomes.This study was supported by The Norbert and Louise Grunwald Cardiac Arrhythmia Research Fund.     

Lipid-altering therapy and atrial fibrillation

Atrial fibrillation (AF) is a common cardiac arrhythmia with significant morbidity and public health cost. Because of limitations of efficacy and safety of conventional antiarrhythmic agents, alternative therapies for AF are needed. The potential antiarrhythmic properties of lipid-altering therapy, including the 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors and fish oils, are increasingly recognized, particularly in light of their potential anti-inflammatory properties. This review examines the known effects of lipid-altering therapy on atrial arrhythmias in both experimental and clinical settings. Inflammatory states, such as post-cardiac surgery and AF of recent onset, show promise as targets. In contrast, lipid-lowering therapy is less likely to affect longstanding persistent AF. Current recommendations for the use of lipid-altering therapy for prevention and treatment of AF are summarized.     

Observations on heredity and obesity in the emergence of diabetes

Summary The 899 offspring of Natal Indian diabetic couples are compared with the general Indian population. Diabetes was present in 25% of offspring aged 40– 49 as against 14.7% of the general population. The ratio of offspring diabetics to population diabetics diminished with age, suggesting that the genetic influence affects mainly age of onset of diabetes. Old and young diabetic couples had a similar proportion of diabetic children. Another similar comparison could be made between an inbred Tamil Indian family in Cape Town and the general population of Cape Hindus. More young diabetics were obese than old diabetics, in3 different racial groups and in both clinic and survey diabetics, whereas in the general population obesity is more common over age 40. Overweight may be a more important diabetes risk factor in young than in old people.

---

Beobachtungen über Erblichkeit und Fettleibigkeit beim Auftreten des Diabetes

Zusammenfassung Eine Gruppe von 899 Indern aus Natal, Nachkommen diabetischer Elternpaare, wurde mit der indischen Gesamtbevölkerung in Natal verglichen. Diabetes wurde in 25% der Nachkommen im Alter zwischen 40 und 49 Jahren beobachtet, verglichen mit 14.7% in der Gesamtbevölkerung. Die Verhältniszahl: Diabetiker unter den Nachkommen zu den Diabetikern in der Gesamtbevölkerung verringerte sich mit ansteigendem Alter; dieser Befund scheint anzudeuten, daß ein möglicher genetischer Faktor einen besonderen Einfluß auf das Alter ausübt, in dem der Diabetes sich manifestiert. Alte und junge Elternpaare hatten eine ähnliche zahlenmäßige Verteilung diabetischer Kinder. Ein ähnlicher Vergleich konnte zwischen einer Familiengruppe indischer Tamilen in Kapstadt und der gesamten HinduBevölkerung' von Kapstadt angestellt werden. Bei drei rassisch verschiedenen Bevölkerungsgruppen und bei klinischen wie bei neuentdeckten Diabetikern wurde festgestellt, daß Fettleibigkeit häufiger bei jungen als bei alten Diabetikern auftrat, während in der Gesamtbevölkerung die Fettleibigkeit im Alter von über 40 Jahren häufiger war. Übergewicht ist ais Risikofaktor für den Diabetes vielleicht wichtiger bei jüngeren als bei älteren Personen.

---

Observations sur l'hérédité et l'obésité dans l'apparition du diabèté

Résumé 899 enfants nés de couples Indiens diabétiques (province du Natal) ont été comparés à l'ensemble de la population indienne. Le diabète était présent chez 25% des descendants âgés entre 40 et 49 ans contre 14.7% pour la population générale. La différence de prévalence du diabète entre les descendants des couples diabétiques et la population générale diminuait avec l'âge, ce qui semble indiquer que le facteur génétique affecte surtout l'âge d'apparition du diabète. La proportion d'enfants diabétiques était identique pour les couples diabétiques jeunes ou vieux. Cette même comparaison a pu se faire entre une famille indienne Tamil dont les membres s'épousent entre eux et vivant au Cap et l'ensemble de la population indienne du Cap. La prévalence d'obésité était plus grande chez les diabétiques jeunes que chez les diabétiques âgés dans trois groupes raciaux différents et ceci aussi bien pour le diabète symptomatique qu' asymptomatique; par contre l'obésité est plus fréquente pour la population générale dépassant l'âge de 40 ans. L'obésité semble jouer un rôle plus important comme facteur diabétogène chez les jeunes que chez les personnes âgées.