Recent reports of the impact of estrogen receptor ␣ and aromatase deficiency have shed new light on the importance of estrogen for bone formation in man. We describe a novel mutation of the CYP19 gene in a 27-yr-old homozygous male of consanguinous parents. A C to A substitution in intron V, at position ؊3 of the splicing acceptor site before exon VI of the CYP19 gene, is the likely cause of loss of aromatase activity. The mRNA of the patient leads to a frameshift and a premature stop codon 8 nucleotides downstream the end of exon V. Both parents were shown to be heterozygous for the same mutation. Apart from genua valga, kyphoscoliosis, and pectus carniatus, the physical examination was normal including secondary male characteristics with normal testicular size. To substitute for the deficiency, the patient was treated with 50 g transdermal estradiol twice weekly for 3 months, followed by 25 g twice weekly. After 6 months estrogen levels (<20 at baseline and 45 pg/ml at 6 months; normal range, 10 -50) and estrone levels (17 and 34 ng/ml; normal range, 30 -85) had normalized. Bone maturation progressed and the initially unfused carpal and phalangeal epiphyses began to close within 3 months and were almost completely closed after 6 months. I N A WIDE VARIETY of tissues, including testis, ovary, placenta, and adipose tissue, the aromatase cytochrome P450, as the product of the CYP19 gene, catalyzes the conversion of androgens to estrogens (1, 2). Reports of osteopenia and osteoporosis in animals and humans with gene defects in the estrogen receptor (3-5) and both in females and males with aromatase deficiency (6 -9) have called attention to the importance of estrogen for skeletal maturation (10). The precise role of estrogen in human male physiology remains largely unknown, especially which effects on bone mineralization and metabolism in the male are mediated by estrogens derived from the aromatization of androgens. Many studies have demonstrated that gonadal failure in males is associated with a decrease in bone mass, but less is known about the role of genetic disorders associated with estrogen resistance or deficiency (11). First descriptions of young men affected by congenital estrogen deficiency have shed new light on the importance of estrogen for bone formation in man (7,8,11,12). These findings suggest that epiphyseal closure does not develop without the action of estrogen even in males and that androgen alone is not sufficient to promote normal skeletal mineralization. Recently two mutations in the CYP19 gene in males have demonstrated the role of estrogen on bone mineralization and their effect on glucose and lipid metabolism (6 -9, 13, 14).We now present the third case of a 27-yr-old man with open epiphysis caused by a new mutation in the CYP19 gene (aromatase deficiency), the effect of estrogen replacement on bone mineralization/maturation and glucose and lipid metabolism. Subjects and Methods Case reportThe propositus was the only child of consanguineous parents (second cousins, Fig. 1). His mother d...
cute kidney injury (AKI) is a frequent (8% to 22% of all hospital patients) and relevant clinical event (1, 2). It is characterized by a rapid worsening of kidney function to varying degrees and is associated with a 1.4-to 15.4-fold increase in the risk of mortality (3-6). Patients with AKI are also at considerable risk for the development or worsening of chronic kidney disease (7-10).AKI is currently defined and staged depending on changes in serum creatinine and urine excretion according to the KDIGO AKI guidelines (Table 1) (10,11). According to international guidelines, the diagnosis of AKI should prompt a number of steps. These include identifying and treating triggering factors, adjusting drug doses to impaired renal function, avoiding nephrotoxins, monitoring of hemodynamics as well as fluid and electrolyte balance, and nephro- SummaryBackground: Studies from multiple countries have shown that acute kidney injury (AKI) in hospitalized patients is associated with mortality and morbidity. There are no reliable data at present on the incidence and mortality of AKI episodes among hospitalized patients in Germany. The utility of administrative codings of AKI for the identification of AKI episodes is also unclear.Methods: In an exploratory approach, we retrospectively analyzed all episodes of AKI over a period of 3.5 years (2014-2017) on the basis of routinely obtained serum creatinine measurements in 103 161 patients whose creatinine had been measured at least twice and who had been in the hospital for at least two days. We used the "Kidney Disease: Improving Global Outcomes" (KDIGO) criteria for AKI. In parallel, we assessed the administrative coding of discharge diagnoses of the same patients with codes from the International Classification of Diseases (ICD-10-GM).Results: Among 185 760 hospitalizations, stage 1 AKI occurred in 25 417 cases (13.7%), stage 2 in 8503 cases (4.6%), and stage 3 in 5881 cases (3.1%). AKI cases were associated with length of hospital stay, renal morbidity, and overall mortality, and this association was stage-dependent. The in-hospital mortality was 5.1% for patients with stage 1 AKI, 13.7% for patients with stage 2 AKI, and 24.8% for patients with stage 3 AKI. An administrative coding for acute kidney injury (N17) was present in only 28.8% (11 481) of the AKI cases that were identified by creatinine criteria. Like the AKI cases overall, those that were identified by creatinine criteria but were not coded as AKI had significantly higher mortality, and this association was stage-dependent.Conclusion: AKI episodes are common among hospitalized patients and are associated with considerable morbidity and mortality, yet they are inadequately documented and probably often escape the attention of the treating physicians.
BackgroundCollecting patient-reported outcome (PRO) data systematically enables objective evaluation of treatment and its related outcomes. Using disease-specific questionnaires developed by the International Consortium for Health Outcome Measurement (ICHOM) allows for comparison between physicians, hospitals, and even different countries.ObjectiveThis pilot project aimed to establish a digital system to measure PROs for new patients with breast cancer who attended the Charité Breast Center This approach should serve as a blueprint to further expand the PRO measurement to other disease entities and departments.MethodsIn November 2016, we implemented a Web-based system to collect PRO data at Charité Breast Center using the ICHOM dataset. All new patients at the Breast Center were enrolled and answered a predefined set of questions using a tablet computer. Once they started their treatment at Charité, automated emails were sent to the patients at predefined treatment points. Those emails contained a Web-based link through which they could access and answer questionnaires.ResultsBy now, 541 patients have been enrolled and 2470 questionnaires initiated. Overall, 9.4% (51/541) of the patients were under the age of 40 years, 49.7% (269/541) between 40 and 60 years, 39.6% (214/541) between 60 and 80 years, and 1.3% (7/541) over the age of 80 years. The average return rate of questionnaires was 67.0%. When asked about the preference regarding paper versus Web-based questionnaires, 6.0% (8/134) of the patients between 50 and 60 years, 6.0% (9/150) between 60 and 70 years, and 12.7% (9/71) over the age of 70 years preferred paper versions.ConclusionsMeasuring PRO in patients with breast cancer in an automated electronic version is possible across all age ranges while simultaneously achieving a high return rate.
Attempted venous cannulation with a dual-stage cannula for cardiopulmonary bypass in routine coronary revascularization led to the discovery of an abnormal inferior vena cava in a 65-year-old patient. The operative and postoperative course of the patient were not affected by the inferior caval anomaly. The detailed infradiaphragmatic venous anatomy was elucidated later by MRI and showed bilateral inferior caval veins with azygos continuation. Although this malformation of the inferior cava is rare in adults, the occurrence should be known. Quick recognition and handling should be achieved if detected during cannulation for cardiopulmonary bypass.
Systematic process management and efficient quality control is rapidly gaining importance in our healthcare system. What does this mean for diagnostic radiology departments? To improve efficiency, quality and productivity the workflow within the department of diagnostic and interventional radiology at the University Hospital of Essen were restructured over the last two years. Furthermore, a controlling system was established. One of the pursued aims was to create a quality management system as a basis for the subsequent certification according to the ISO EN 9001:2000 norm. Central to the success of the workflow reorganisation was the training of selected members of the department's staff in process and quality management theory. Thereafter, a dedicated working group was created to prepare the reorganisation and the subsequent ISO certification with the support of a consulting partner. To assure a smooth implementation of the restructured workflow and create acceptance for the required ISO-9001 documentation, the entire staff was familiarized with the basic ideas of process- and quality-management in several training sessions. This manuscript summarizes the basic concepts of process and quality management as they were taught to our staff. A direct relationship towards diagnostic radiology is maintained throughout the text.
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