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Biomedical subjects

L Rode

Publications and source records attributed to L Rode.

13 recordsLinked to original sources

First trimester Down syndrome screening: distribution of markers and comparison of assays for quantification of pregnancy-associated plasma protein-A.

OBJECTIVE: First trimester screening for fetal chromosomal disease is now possible using the maternal serological markers pregnancy-associated plasma protein-A (PAPP-A) and the free ss-form of human chorionic gonadotrophin (sshCG) in combination with the ultrasound marker nuchal translucency (NT) thickness. The availability of well-defined analytical methods and reference ranges for the involved parameters, and knowledge of the correlation between markers and clinical parameters, e.g. maternal weight, parity and age, are important for the design of efficient screening programs. MATERIAL AND METHODS: Women (n = 2702), with singleton pregnancies, participating in the Copenhagen First Trimester Screening Study had PAPP-A and sshCG values determined and NT measured at a gestational age of 11 to 14 weeks, as determined from crown rump length (CRL). The distribution of gestational age-independent multiples of the median (MoM) of the parameters was defined and reference intervals established. Three methods for determination of PAPP-A, one manual in-house poly-monoclonal ELISA and two commercial semi-automatic double-monoclonal methods, i.e. PAPP-A for the AutoDelfia platform and PAPP-A for the Kryptor platform, were compared in 260 women. RESULTS: All markers had log-normally distributed MoMs. Gestational age independent reference intervals were established. Maternal weight should be included in risk algorithms. The semi-automated PAPP-A assays (AutoDelfia and Kryptor) gave similar values, mean difference 10.5 %, whereas the manual assay gave higher values, mean differences 50.4 % and 41.0 %, respectively, CONCLUSIONS: This calls for better standardization and a uniform quality control scheme that is focused on discriminatory ability rather than adherence to mean values from a large number of laboratories.

Biomarkers↗

Preliminary experience with plasma exchange in patients with ulcerative colitis.

We decided to test the effect of plasma exchange (PE) in selected patients with inflammatory bowel disease in which conventional medical treatment proved insufficient. Twenty-six patients with ulcerative colitis (UC) were treated with PE, six patients with fulminant colitis and 20 with long lasting severe colitis. After very promising results initially, 17 patients with long lasting severe colitis were selected in a careful prospective study. Twelve patients completed the treatment protocol. Two litres of plasma were exchanged every second or third day, 5-6 times in two weeks. The replacement fluid was fresh frozen plasma. The activity indices and histological evaluation were used as criteriae for treatment response. A reduction of 35% in the activity index is considered a significant improvement. In all but three patients (out of 12), the activity indices were reduced two weeks after end of treatment. Six patients had a reduction of more than 35%, three patients had a reduction between 22-28% and three had a reduction less than 10%. None became worse. In this carefully studied group, the immediate beneficial effects of PE was only demonstrable by the activity indices and not evident by blind evaluation of biopsies from the mucosa. In two of the six patients with fulminant colitis, PE was followed by an immediate dramatic clinical improvement. In the follow up period (2-14 years) 14 of the 26 patients reported marked and long lasting improvement of inflammatory bowel disease. We conclude that PE might be beneficial in subsets of patients with UC.

Adult↗

[Benign fibrous mesothelioma of the pleura].

Benign fibrous mesothelioma of the pleura is rare. The tumour may present in several ways, as shown in our two patients, one with an elevated diaphragm and the other with slowly growing intrathoracic tumour. The tumour may reach a considerable size, is localized, is normally benign, and is curable by surgical resection.

Aged↗

Rapidly fatal Addison's disease: three case reports.

Recently, three young individuals died unexpectedly outside hospital. Their past medical histories revealed complaints of weakness, anorexia and nausea, none of which had led to adequate medical examination. The present paper calls for vigilance when patients present with non-specific manifestations such as anorexia and weakness. Autopsies confirmed that the deaths were caused by adrenalitis, a diagnosis unsuspected at the time of death. The value of different post-mortem laboratory findings is discussed.

Addison Disease↗

Acute abdominal pain as presenting symptom in lymphangiomyomatosis. Case report.

A case of lymphangiomyomatosis presenting with acute abdominal pain is described. Laparotomy revealed a multiloculated cystic mass on the posterior abdominal wall with typical histological pattern. In the ensuing 3 years the respiratory manifestations of this rare disorder have slowly progressed. Possible causal factors and management are discussed.

Abdominal Neoplasms↗

Emery-Dreifuss syndrome in three generations of females, including identical twins.

Emery-Dreifuss syndrome is characterized by early contractures, slowly progressing muscle wasting and cardiomyopathy, often presenting as heart block. The syndrome is usually inherited as an X-linked recessive. We present a family with four affected females in three generations, including a pair of identical twins. All patients developed elbow contractures, scoliosis, and stiffness of the spine and neck from the age of about 10, with little progression in later years. The proband developed cardiomyopathy at the age of 45, whereas her mother died at 41 without a confirmed diagnosis of cardiomyopathy. The twin daughters of the proband had no unequivocal signs of cardiomyopathy at the age of 21 years. Early recognition of this syndrome is important because of the possible development of heart block.

Adult↗

Sarcoma following irradiation for breast cancer. Report of three unusual cases including one malignant mesenchymoma of bone.

Three cases of sarcoma developing after irradiation for breast cancer are reported. A malignant mesenchymoma in the sternum--a combination of osteogenic sarcoma and rhabdomyosarcoma--is the first documented case of its kind occurring after radiation therapy. Of the other two tumors one was an extraskeletal osteogenic sarcoma in the soft tissues of the thoracic wall and one a rhabdomyosarcoma in the axilla.

Adult↗