https://www.thelancet.com/pdfs/journals/lancet/PIIS0140-6736(07)61601-8.pdf

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

Objective:To determine the incidence of nosocomial infections (NIs) and fever of unknown origin among adult hematology–oncology patients.Design:Prospective surveillance study.Setting:The 18-bed hematology–oncology unit at the University Hospital Bonn, Bonn, Germany.Patients:All hematology–oncology patients admitted during a total of 8 months in 1998 and 1999.Methods:Standardized surveillance system based on the Centers for Disease Control and Prevention's National Nosocomial Infections Surveillance system. Rates of NI and fever of unknown origin were calculated for patient-days and patient-days at risk (ie, days with neutropenia of < 500/mm3 or leukopenia of < 1,000/mm3).Results:Of 116 patients hospitalized for a total of 4,002 days (172 admissions; mean length of stay, 25.2 days), 32 (27.6%) had a total of 44 documented NIs (19 bloodstream infections, 15 pneumonias, 7 urinary tract infections, and 3 others). In addition, 33 fevers of unknown origin were documented in 28 patients. No patient had thrush while receiving antifungal prophylaxis. The overall rates for NI and fever of unknown origin were 11.0 and 8.2 per 1,000 patient-days (25.3 and 15.4 per 1,000 patient-days at risk), respectively. The risks for NI and fever of unknown origin were significantly higher during neutropenic days, with 34 (77.3%) of the 44 NIs and 22 (66.7%) of the 33 fevers of unknown origin occurring during 1,345 patient-days at risk.Conclusions:Prospective surveillance for NIs on hematology–oncology units should include fever of unknown origin as the single most common and clinically important entity. For a meaningful comparison of surveillance data for hematology–oncology patients, the reported infection rates should include rates based on days with neutropenia, for which days with leukopenia could serve as a surrogate marker under routine conditions.

Surveillance for Nosocomial Infections and Fever of Unknown Origin Among Adult Hematology–Oncology Patients

Different techniques are used in fetal cardiology, and their accuracy has been demonstrated on several occasions. Color Doppler US has proved to be a reliable and valuable tool in the diagnosis of fetal cardiac abnormalities. Magnetic resonance imaging (MRI) of the fetal heart has, so far, played no role in prenatal diagnostics. We report on a truncus arteriosus communis diagnosed prenatally during a screening ultrasound at 22 weeks of gestation. In addition to real-time ultrasound and color Doppler echocardiography, fetal MRI was performed. Fetal echocardiography arose suspicion of a type I common trunk. Fetal MR showed solely a widened vessel coursing retrocardially and additionally an inhomogeneous fluid distribution of the lung not shown on prenatal US. After termination of pregnancy at 23 weeks of gestation, MR fetography and autopsy were performed, and both found a type II common trunk. MR autopsy of the heart was very reliable in this case and could be an alternative when fetal pathology is not available for different reasons. Postmortem MRI was also able to demonstrate the inhomogeneous fluid distribution in the lung, which was confirmed by autopsy. Fetal and postmortem MR was reliable in the detection of an inhomogeneous fluid distribution in the lung not shown on prenatal US, providing a relevant additional finding to US. Therefore, MRI should be used more often in fetal cardiology, although it still must be further developed.

https://link.springer.com/content/pdf/10.1007%2Fs00330-004-2419-9.pdf

Truncus arteriosus communis in a midtrimester fetus: comparison of prenatal ultrasound and MRI with postmortem MRI and autopsy.

Fungal infections represent an increasing problem in immunocompromised patients. The majority of cases are caused by one single fungal pathogen and infections with more than one fungus are very rare. Here we describe a case of combined infection with Aspergillus and a zygomycete species, involving the lungs, spleen and the brain and leading to fatal outcome in spite of early antimycotic therapy.

Case report. Mixed systemic mycosis with fatal outcome in a patient with acute myeloblastic leukaemia.

Congenital and iatrogenic laryngeal and vocal abnormalities in patients with 22q11.2 deletion.

BACKGROUND AND OBJECTIVE Congenital cardiovascular (c-v) malformations are the leading signs of two syndromes of highly variable phenotypes, the DiGeorge syndrome (DGS) and the velo-cardio-facial syndrome (VCFS), both of which in the majority of cases are caused by microdeletion in the chromosome region 22q11.2. It was the aim of this study to ascertain the frequency of these chromosomal abnormalities in patients with unselected congenital cardiovascular malformation, and to assess the type of c-v malformation for which microdeletion analysis of the mentioned region would be indicated. PATIENTS AND METHODS The cohort consisted of 90 patients with congenital c-v malformations (35 males, 55 females; mean age 3.6 years (19th week of pregnancy-36 years). Most of them were newborns. The c-v anomalies were: ventricular septal defect (n = 20), pulmonary atresia (10), Fallot's tetralogy (9), truncus arteriosus communis (6), aortic valve stenosis (6), atrioventricular canal (6), type B interrupted aortic arch (5), atrial septal defect (5), tricuspid atresia (4), hypoplastic left heart syndrome (4), persisting ductus arteriosus (3), pulmonary valve stenosis (3), complete (third degree) atrioventricular block (2), Ebstein's anomaly (1), tachycardia (1) and enlarged right atrium (1). Four of 14 fetuses included in this study had complex cardiac anomalies that could not be definitively classified. Cytogenetic karyotype analysis was unremarkable in all cases. Microdeletion detection was done by fluorescence-in-situ-hybridization (FISH). RESULTS 14 of the 90 cases (about 16%) showed microdeletion in the examined chromosomal region 22q11.2. Among the group with microdeletion were aortic arch interruption (5/5), ventricular septal defect (2/20). Fallot's tetralogy (1/9) and atrial septal defect (1/5). All the deletion carriers had other signs of the DGS/VCFS complex. One parent each in two of the microdeletion patients had the same microdeletions. CONCLUSION In patients with congenital c-v and associated malformations of dysmorphism microdeletion diagnosis of 22q11.2 by FISH is indicated in addition to conventional cytogenetic testing. The incidence of this microdeletion seems to be especially high among patients with type B interrupted aortic arch.

Angeborene kardiovaskulare fehlbildungen und chromosomale mikrodeletionen in 22q11.2

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Angeborene kardiovaskulare fehlbildungen und chromosomale mikrodeletionen in 22q11.2