Zytogenetische und hämatologische Verlaufsbeobachtungen bei idiopathischer refraktärer sideroblastischer Anämie (IRSA)

Zusammenfassung Bei zehn Patienten mit IRSA wurden zytogenetische und knochenmarkmorphologische Befunde innerhalb 24 Monaten ein- oder mehrfach kontrolliert. Acht Patienten wiesen einen euploiden Chromosomensatz auf, bei zwei Patienten bestanden stabile klonale Aberrationen (45, XO, -Y und 46, XX, + mär). Während der durchschnittlich 6,8jährigen Krankheitsdauer trat bei keinem Patienten eine Leukämie auf. Auch bei zehn weiteren, bereits verstorbenen Patienten mit IRSA wurden nach 7,7 Jahren Latenzzeit keine Leukämien und 2 maligne Tumoren (Colon- und Prostatacarcinom) beobachtet.Dagegen weisen primäre Besonderheiten der Knochenmarkmorphologie (geringgradige Myeloblastenvermehrung, normale Zellularität, hoher ME-Anteil, PAS-positive Erythroblasten), eine zusätzliche Thrombopenie oder schwere instabile klonale Chromosomenaberrationen auf eine Präleukämie mit symptomatischer SA hin Drei derartige Fälle entwickelten nach 1–15 Monaten eine unreifzellige Leukämie.Frau U. Grazioli, Frau M. Thomas und Erl. F. Fath danken wir for vorzügliche technische Mitarbeit.     

Syndrome MYH9 et anémie hémolytique auto-immune : une association fortuite ?

Introduction

The MYH9 syndrome is a group of rare autosomal dominant platelet disorders associating in most of the cases a macrothrombocytopenia and characteristic leukocyte inclusions. Clinical features may include renal, visual, or hearing impairment. The bleeding tendency is usually moderate.

Case report

We report a 28-year-old-man, with an auto-immune haemolytic anaemia associated with a MYH9 syndrome.

Conclusion

To our knowledge, this is the first report of such an association.     

Hyperuricemia in sickle cell disease in France

Purpose

Hyperuricemia has been reported to be a common feature of sickle cell disease occurring between 32 to 41% of the patients, in studies conducted during the 1970's. Since then, this notion has been rarely challenged. The objective of this study was to assess the prevalence of hyperuricemia and gout in adult patients with sickle cell disease in France.

Methods

Between May 2007 and March 2009, serum and urinary urate concentration, creatininemia and hemogram were prospectively assessed in all consecutive sickle cell patients, followed in our sickle cell disease centre. All subjects were in a clinically steady state. Clinical acute gout history was also recorded.

Results

Sixty-five patients (mean age 31 ± 10.3 years) were investigated. Mean uric acid serum level was 281.6 ± 74 μmol/L. Hyperuricemia was evidenced in six patients only (9.2%) (95% IC: 3.5-19.0). None of the patient had a medical history of acute gout. Patients in the higher serum uric acid tertile concentration had higher serum creatinine level (62.3 ± 17.1 μmol/L vs 51.5 ± 12.6 μmol/L, P < 0.01), lower fractional excretion of urate (4.5% vs 6.8%, P < 0.03) and higher reticulocyte count (median 219 500/mm³ vs 144 000/mm³, P = 0.08) compared to the other patients.

Conclusion

Hyperuricemia and gout are not a clinical problem in sickle cell disease in our country. Nevertheless, our findings indicate that kidney function has to be fully explored if serum uric acid level is elevated or significantly deteriorates during follow-up. Serum uric acid level could be an early marker of renal dysfunction in sickle cell disease patients.     

Accident hémolytique retardé post-transfusionnel par allo-immunisation anti-JK1

Introduction

The sensitivity of the detection of irregular antibodies (DIA) is one of the fundamental basis of transfusion safety. The production of alloantibodies is the first cause of adverse events following transfusion.

Case report

We report a 77-year-old woman who was transfused and presented with a delayed haemolytic anemia due to anti-JK1 alloimmunization. This event highlights the limits of DIA performed before a transfusion, the hazard of this specific type of antibody and the difficulties of the diagnosis of haemolytic anaemia. The preventive measures necessary to avoid this undesirable effect are reminded.

Conclusion

Despite the sensitive routine test method, the anti-JK1 antibodies could be missed. We should keep in mind the possibility of an anaemia due to alloantibodies we confronted to an unexplained haemolytic episode.     

Anaemia during pregnancy: impact on birth outcome and infant haemoglobin level during the first 18 months of life

To determine the effect of maternal anaemia on pregnancy outcome and describe its impact on infant haemoglobin level in the first 18 months of life, we conducted a prospective study of 617 pregnant women and their children in Benin. Prevalence of maternal anaemia at delivery was 39.5%, and 61.1% of newborns were anaemic at birth. Maternal anaemia was not associated with low birth weight [OR = 1.2 (0.6-2.2)] or preterm birth [OR = 1.3 (0.7-2.4)], whereas the newborn's anaemia was related to maternal anaemia [OR = 1.8 (1.2-2.5)]. There was no association between an infant's haemoglobin level until 18 months and maternal anaemia. However, malaria attacks during follow-up, male gender and sickle cell trait were all associated with a lower infant haemoglobin level until 18 months, whereas good infant feeding practices and a polygamous family were positively associated with a higher haemoglobin level during the first 18 months of life.     

An insight into the mental health needs of the common public of Tamil Nadu,India, subjected to COVID-19 lockdown,a rare unprecedented crisis

PurposeCOVID-19, a major “Public Health Emergencies of International Concern”, had sought greater attention among researchers to study its pathogenesis, associated complications and management. However, there are only few studies that had studied its potential impact on mental health of general public, who are subjected to social distancing, community lockdown and restrictions in their routine activities.ObjectivesThe aim of this study is to assess the prevalence of psychological distress and mental health needs among general public in Tamil Nadu subjected to lockdown, social distancing amidst COVID-19 crisis. Tamil Nadu is one of the worst affected states of southern India.MethodsA self-administered, web-based application study using “WHO-Self Reported Questionnaire-20”, in bilingual version, both English and Tamil, is used to screen the public for the level of distress. The study is done while the state is under extended lockdown and restricted movement.Key findingsA total of 918 respondents participated in the survey and it is found that about more than one third of the respondents (～35%) are under psychological distress. A significant association between younger age group, female gender, unmarried, people with children are found to be under distress. The lockdown had increased the frequency of smoking and quantity of cigarettes among smokers, also has increased the frequency of drinking among alcohol consumers. Of the SRQ-20 items recorded, stress related neurotic symptoms (> 70%) was observed more than the depressive mood. About 33% of those scored > 7, had suicidal tendency. The districts declared red zones had significantly reported a greater number of respondents under distress.ConclusionBesides effectively mitigating the COVID-19 crisis, in terms of prevention, control and treatment strategies, it is prerogative to effectively manage fear, distress due to the COVID-19 and associated anxiety and depression among the public.     

Candidemia in the intensive care unit: A 12-year retrospective cohort study in Reunion Island

Objectives

We aimed to describe the epidemiology of Candida bloodstream infection in an intensive care unit (ICU) in Reunion Island.