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Biomedical subjects

P Miny

Publications and source records attributed to P Miny.

At least 73 records · Page 4Linked to original sources
PubMed1988

Cardiac defects in chromosomally abnormal human embryos of 10-14 weeks' gestation.

Cardiac defects were studied in five chromosomally abnormal embryos of 10-14 weeks' gestation by free-hand microdissection of hearts measuring 2.5-6 mm in diameter. The type of cardiac malformation alone or in association with other anomalies helped to confirm the chromosome diagnosis established prenatally by chorionic villus sampling or after spontaneous abortion. It was suggestive of a chromosomal disorder in one case in which cytogenetic investigation had failed.

Adult↗
PubMed1988

Feto-maternal transfusion after chorionic villus sampling. Evaluation by maternal serum alphafetoprotein measurement.

The alphafetoprotein (AFP) concentration in maternal serum was determined before and after chorionic villus sampling (CVS). A significant increase of 20% or more in the pre-CVS level was noted immediately after sampling in 59% of 837 pregnancies indicating some degree of feto-maternal haemorrhage. The increase in the AFP concentration in maternal serum was correlated with the weight of the tissue sample but not with the number of sampling attempts. A correlation of AFP increase and frequency of spontaneous abortions following CVS was suggested only in the group with an AFP increase of more than 100% or with a continuing rise in the first hour following CVS. CVS in early pregnancy obviously did not interfere with maternal serum AFP screening for neural tube defects in the second trimester. Although AFP measurement before and after CVS seems to have no immediate diagnostic application, in the research phase of CVS it may help to identify those procedures that are the least traumatic.

Abortion, Spontaneous↗
PubMed1987

Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients.

The frequency of Kallmann syndrome (hypogonadotropic hypogonadism and anosmia, HHA) was estimated in patients presenting with hypogonadism and patients with anosmia. Of 791 hypogonadal males 19 had HHA. The frequency of HHA was about 1:25 (n = 8/189) in outpatients questioned about their sense of smell, about 1:50 (n = 11/579) in patients whose blood samples were sent to us for chromosome analysis, and about 1:30 (n = 19/605) in males with hypogonadism and 46,XY chromosomes. The relation of patients with HHA to those with Klinefelter syndrome was 1:10 (n = 19/186). From 24 patients presenting with anosmia we found 1 hitherto undiagnosed case of HHA. The mean age at diagnosis was 24.8 and 24.9 years in our cases and cases from literature, respectively. These data provide evidence that Kallmann syndrome is not infrequent and that most patients remain undiagnosed until the third decade of life. Earlier diagnosis is emphasized by questioning each hypogonadal patient about his sense of smell because therapeutic success seems to be age dependent.

Adolescent↗
PubMed1987

[Experiences with prenatal diagnosis of sickle cell anemia and thalassemias in the first trimester of pregnancy: various aspects for the obstetrician].

After an extensive educational campaign for the medical community in the area of the Westf. Wilhelms-University Münster five pregnancies at risk for sickle cell anemia and thalassemias were investigated during the first trimester of pregnancy. Following chorionic villi sampling in one case a sickle cell anemia and in two other cases a beta-thalassemia could be excluded. In two additional cases a homozygous beta-thalassemia was proven and in one of the cases the first trimester diagnosis was confirmed in the second trimester by fetal blood sampling. Because of the migration patterns in Europe there is currently a considerable demand for prenatal diagnosis of beta-thalassemias in West-Germany after proper information of the population at risk.

Anemia, Sickle Cell↗
PubMed1987

Experience with 8 cases of prenatally diagnosed sacrococcygeal teratomas.

Based on an analysis of eight prenatal diagnoses of sacrococcygeal teratomas and a review of the literature on this condition, sacrococcygeal teratoma can be accurately diagnosed which is related to significant fetal wastage as well as neonatal morbidity and mortality. These tumors are usually benign and the long-term morbidity, but not the overall survival rate, appears to be related to the American Academy of Pediatrics Surgical Section type of tumor. alpha-Fetoprotein can be normal or elevated and acetylcholinesterase in amniotic fluid can be present in spite of the polyhydramnios, but sonography can distinguish these lesions from neural tube defects. Nonimmune hydrops is an ominous sign, particularly in cases detected early in pregnancy. Timing and method of delivery are important considerations for neonatal survival with these lesions. However, normal survival with minimal morbidity is possible even in the largest of sacrococcygeal teratomas.

Cesarean Section↗
PubMed1987

Chorionic villi sampling with an echogenic catheter: experiences of the first 500 cases.

Using a newly developed CVS catheter with enhanced echogenicity we performed CVS in 501 consecutive cases. The abortion rate of 4.3% prior to 28 weeks of gestation in this series is within the background rate of controls matched for maternal age. The loss rate was clearly correlated to the number of insertions, time of sampling and sampling success. CVS is safest between 9 and 11 weeks of pregnancy. We recommend to restrict the number of insertions to a maximum of 3. The rate of failed samplings was 4, reflecting a low "aggressiveness in seeking a sample". Complete follow-up of 259 consecutive cases gave no indication of an increased rate of congenital anomalies following CVS in early pregnancy. In our study we also performed cervical swabs, pregnancy hormone testing, maternal serum AFP determination prior to and after CVS as well as maternal AFP screening at 16 weeks of pregnancy together with a detailed sonographic examination. We conclude that CVS can be considered now a safe and reliable diagnostic procedure, but requires further detailed documentation and close follow-up in controlled trials.

Abortion, Spontaneous↗
PubMed1986

[Ultrasound findings as a sign of fetal triploidy].

A woman with severe pre-eclampsia refractory to treatment was examined in the 22nd week of pregnancy by ultrasound. This revealed a big renal cyst in the foetus and discrete signs of a partial hydatidiform mole. The pregnancy was terminated, chromosome analysis confirmed the presence of foetal triploidy, and the symptoms of severe pre-eclampsia disappeared immediately. This case illustrates that ultrasound can guide the obstetric management in the right direction, if the initial examination is performed early enough.

Abnormalities, Multiple↗
PubMed1985

[Sonographic diagnosis of holoprosencephaly in the 2d trimester].

Data on the sonographic diagnosis of holoprosencephaly in the second trimester are presented. Polyhydramnions was detected during outside ultrasound screening, and the lacking midline echo in association with hypotelorism and central face clefting allowed early diagnosis. The autopsy of the fetus confirmed the prenatal diagnosis, the parents subsequently had genetic counseling. The recurrence risk of holoprosencephaly depends on the specific etiology. Special ultrasound examination should be offered in subsequent pregnancies.

Adult↗