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Biomedical subjects

R J Rijnders

Publications and source records attributed to R J Rijnders.

8 recordsLinked to original sources
PubMed2004

[Fetal DNA in maternal blood].

There is a certain degree of foetal-maternal transfusion in every pregnancy. The possibilities for using intact foetal cells extracted from maternal blood for prenatal diagnosis are limited. Recently real-time polymerase chain reaction (PCR) techniques have allowed the identification and quantification of foetal DNA in the maternal blood. Foetal sex determination with Y-chromosome-PCR has been found to have a specificity of 100%. The sensitivity is 96% but increases with gestational age, so that from 10 weeks onwards the sensitivity approaches 100%. In the case of X-linked diseases, this technique can reduce invasive prenatal diagnosis by 50%. In the case of a foetus with an elevated risk for congenital adrenal hyperplasia, early non-invasive foetal sexing can also shorten the period of maternal dexamethasone use so as to prevent virilisation in the female foetus. Early second trimester non-invasive foetal RhD genotyping with an RhD-PCR has a sensitivity and specificity of 100% each. Therefore in the future, anti-D immunoprophylaxis will be superfluous in RhD-negative women with an RhD-negative foetus. Theoretically all new and paternal inherited disorders with a known gene defect can be detected in maternal plasma. Some examples have already been described. Recently published small scale studies describe elevated concentrations of free foetal DNA in maternal plasma in (threatening) preterm labour, pre-eclampsia and aneuploidy. Large-scale studies are necessary to demonstrate the value of these findings.

Chromosomes, Human, X↗
PubMed2001

Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia.

OBJECTIVE: To determine first-trimester fetal sex by isolating free fetal DNA from maternal plasma. METHODS: The index case was a pregnant woman who previously delivered a girl with congenital adrenal hyperplasia. The SRY gene as a marker for the fetal Y chromosome was detected in maternal serum and plasma by quantitative polymerase chain reaction analysis. Simultaneously, we performed the same test in 25 and 19 women in the first and second trimester, respectively, and compared plasma results with fetal gender as assessed by prenatal karyotyping or as seen at ultrasound or birth. RESULTS: In 44 of 45 patients at gestational ages ranging from 8 3/7 to 17 3/7 weeks, we correctly predicted fetal sex using quantitative polymerase chain reaction analysis of the SRY gene in maternal plasma. In one case, the test result was inconclusive. Overall, fetal sex was correctly predicted in 97.8% of cases (95% confidence interval 88.2%, 99.9%). CONCLUSION: Amplification of free fetal DNA in maternal plasma is a valid technique for predicting fetal sex in early pregnancy. In case of pregnancies at risk for congenital adrenal hyperplasia, the technique allows restriction of dexamethasone treatment to female fetuses resulting in a substantial decrease of unnecessary treatment and invasive diagnostic tests.

Adrenal Hyperplasia, Congenital↗
PubMed1998

[Psychiatric symptoms in refugees reported to the Psychiatric Center De Vonk].

OBJECTIVE: To determine traumatic experiences and psychological symptoms in refugees reported to the psychiatric centre De Vonk, and the relationship between biographical data, experiences of violence and post-traumatic stress symptoms on the one hand and the referral or admission policy on the other. DESIGN: Descriptive. SETTING: Centre '45, refugee unit De Vonk (department for the treatment of traumatized refugees and asylum seekers), Noordwijkerhout, the Netherlands. The psychiatric centre De Vonk comprises, apart from an outpatient clinic and a daytime clinic, a department created for the clinical treatment of refugees with symptoms related to traumatization. METHODS: The main biographical and background data were collected. The first interview was routinely preceded by the Harvard trauma questionnaire (HTQ) and the Hopkins symptom checklist (HSCL-25), if necessary with the aid of an interpreter. The HTQ measures experiences of violence and post-traumatic stress symptoms; the HSCL-25 comprises an anxiety scale and a depression scale. RESULTS: Biographical data were obtained from 232 patients and questionnaire data from 169 patients. The population was heterogeneous as regards region of origin, duration of the stay in the Netherlands, education and age. Serious forms of violence were reported, such as abuse, torture and war violence, and many symptoms of anxiety and depression were mentioned. The scores for posttraumatic stress symptoms exceeded the clinical reference values in 82% in the group examined. Of the referred patients, 37% were admitted to the clinic. CONCLUSION: In spite of the diversity of language, culture and education among the refugees/asylum seekers referred to De Vonk, it proved adequately possible in practice to use standardized psychological and psychiatric instruments in this group of patients. The symptom level of the patients referred was particularly high.

Adult↗
PubMed1998

[Psychiatric disorders in refugees and asylum seekers: psychological trauma as a cause?].

Posttraumatic stress disorder was diagnosed in two patients, men aged 26 and 29, an asylum seeker from the Middle East and a refugee from former Yugoslavia respectively. They had experienced severe psychotraumatic events. They were referred to a clinic for traumatised refugees and asylum seekers. Their psychiatric disturbances did not fit posttraumatic stress disorder, however. The former suffered from a schizophrenic disorder, the latter from psychosis and depression based on alcohol dependence. Growing awareness of the high prevalence of traumatic experiences in the population leads to a contextual shift in therapists regarding their understanding of the short and long term effects of traumatization in their patients. Exclusive focus on the traumatic history, however, biases the diagnostic process and could lead to wrong conclusions about a causal relationship between traumatic experiences and the psychopathology observed in the patient. When treating asylum seekers or refugees the risk of jumping to this false conclusion is even higher, partially due to cultural and language barriers.

Adult↗
PubMed1996

Suspected idiopathic CD4+ T-lymphocytopenia in a young patient with vulvar carcinoma stage IV.

A case of a woman having a large invasive vulvar carcinoma is reported. Because of the early age of onset and recurrent pneumonia, immunodeficiency was suspected. There appeared to be a repetitive low CD4+ T-lymphocyte count, without evidence of HIV infection or other diseases or therapies known to be clearly associated with T-cell depletion. This is suspected for the rare disorder known as idiopathic CD4+ T-lymphocytopenia which is often associated with opportunistic infections. A case of suspected idiopathic CD4+ T-lymphocytopenia in a patient having an invasive vulvar carcinoma is described.

Adult↗
PubMed1992

Similar brain lesions in alcoholics and Korsakoff patients: MRI, psychometric and clinical findings.

MRI examination revealed similar brain lesions in 5 alcoholic Korsakoff patients and 5 chronic alcoholics without cognitive impairment. Not only cerebral atrophy and demyelination, but also lesions thought to be specific for the Wernicke-Korsakoff syndrome were equally prominent in both groups. The morphological abnormalities thought to be typical of Wernicke-Korsakoff syndrome are probably common features of chronic alcoholism and malnutrition. Marked atrophy of the operculae was found in all Korsakoff patients and in 3 out of 5 chronic alcoholics. Alcohol amnestic disorder may not exclusively result from diencephalic lesions, but also from temporal lesions.

Adult↗