PubMed Health⌕ Search

Biomedical subjects

H J Födisch

Publications and source records attributed to H J Födisch.

At least 19 recordsLinked to original sources
PubMed1999

An increase of hippocampal calretinin-immunoreactive neurons correlates with early febrile seizures in temporal lobe epilepsy.

Numerous studies indicate that initial precipitating injuries (IPI) such as febrile seizures during early childhood may play a pivotal role in the pathogenesis of temporal lobe epilepsy (TLE) and Ammon's horn sclerosis (AHS). Previous data demonstrate an increase of horizontally oriented neurons in molecular layers of hippocampal subfields, which are immunoreactive for calretinin (CR-ir) and resemble Cajal-Retzius-like cells. Cajal-Retzius cells are transiently expressed in the murine developing hippocampus and are critically involved in neuronal pattern formation. Here we investigated a potential relationship between the distribution of horizontally oriented calretinin-immunoreactive neurons and the clinical history of TLE patients with AHS. Horizontally oriented neurons in the molecular layer of the hippocampal formation have been visualized by antibodies against the calcium-binding proteins calretinin and calbindin D-28k. Cell counts derived from 27 epilepsy patients with AHS were compared with autopsy specimens from developing and adult normal human hippocampus (n = 26). During ontogeny, CR-ir cells showed a marked perinatal peak in the CA1 and dentate gyrus molecular layer (CA1-ML, DG-ML) followed by a gradual postnatal decline. In hippocampal specimens from TLE patients with AHS and seizure onset before the age of 4 years, significantly higher levels of CR-ir neurons in CA1-ML (P = 0.05) and DG-ML (P < 0.05) were encountered than in AHS patients without precipitating seizures or with an uneventful early medical history. However, all three groups had higher levels of CR-ir neurons compared to adult controls obtained at autopsy (P < 0.01). In addition, AHS specimens showed increased CR-ir neuropil staining throughout the DG-ML compared with the restricted distribution of CR-ir fibers within the superficial granule cell layer visible in controls. These findings suggest that a considerable number of TLE patients with AHS display signs of impaired hippocampal maturation and circuitry formation as indicated by increased numbers of Cajal-Retzius like cells. It remains to be elucidated, how these changes contribute to the pathogenesis of TLE.

Adolescent↗
PubMed1998

Triplet pregnancy with acardius acranius after preimplantation diagnosis.

OBJECTIVE: To report the first case of fetal malformation after preimplantation diagnosis for Duchenne muscular dystrophy (DMD). DESIGN: Case report. SETTING: Perinatal center in a university hospital. PATIENT(S): A conductor for DMD in her third pregnancy. INTERVENTION(S): Preimplantation diagnosis was performed in an outside hospital. In our center, a dichorionic triplet pregnancy with acardius acranius was diagnosed. The anastomosis between the "pump"-twin and the fetus with acardius was embolized with histoacryl to prevent worsening cardiac insufficiency of the "pump"-twin. MAIN OUTCOME MEASURE(S): Pregnancy outcome. RESULT(S): The anastomosis between the "pump"-twin and the fetus with acardius was occluded successfully. Premature preterm rupture of membranes led to rapid labor and delivery at 24 + 5 weeks' gestation. The smaller girl died of severe hyaline membrane disease, whereas the other infant had no major clinical problems and has developed well. CONCLUSION(S): There might be an association between embryo biopsy and fetal malformations. The setting up of a birth register after embryo biopsy is strongly recommended.

Abnormalities, Multiple↗
PubMed1993

Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder.

We report on a fetus with alobar holoprosencephaly, microphthalmia, midline cleft lip and palate, absent nose, dysplastic ears, radial defects, pentalogy of Fallot, unilateral renal aplasia, absent gallbladder, vertebral anomalies, and absence of ribs. The father had a cleft palate, bilateral colobomas of the iris and retina, a bifid uvula, vertebral anomalies, and unilateral congenital hearing loss. His sister had a cleft lip. On the basis of this family and the family reported by Steinfeld [1982], this malformation syndrome can be defined as a rare autosomal dominant syndrome whose main component manifestations are holoprosencephaly, predominantly radial limb deficiency, heart defects, kidney malformations, absence of gallbladder, and vertebral anomalies.

Abnormalities, Multiple↗
PubMed1992

Correlation of hepatitis B virus, hepatitis D virus and human immunodeficiency virus type I infection markers in hepatitis B surface antigen positive haemophiliacs and patients without haemophilia with clinical and histopathological outcome of hepatitis.

The hepatitis D virus (HDV) infection plays a major role in severe liver damage caused by hepatitis. To establish the prevalence of HDV infection in haemophilic patients and patients without haemophilia, 87 patients with chronic hepatitis B virus (HBV) infection were examined for serological evidence of delta hepatitis. In addition HBV, HDV and human immunodeficiency virus type 1 (HIV) infection markers were compared to clinical and histopathological outcome of hepatitis. Out of 46 haemophiliacs 30 (65%) were anti-HD-seropositive; 10 out of 30 anti-HD-positive patients (33%) had pathological liver function tests compared to 2 out of 16 anti-HD-negative haemophiliacs (13%). The rate of HIV infection did not differ between the HDV infected and the non-HDV infected individuals with haemophilia (17/27 anti-HD-positive patients versus 12/16 anti-HD-negative patients). Two haemophilic anti-HD-positive patients underwent liver biopsy, in both cases hepatitis D antigen (HDAg) was detected in the biopsies. Only 2 out of 41 patients without haemophilia were anti-HD-positive. Both had pathological liver function tests; chronic active hepatitis and cirrhosis, respectively, were diagnosed and HDAg was found in the liver biopsies. Out of 39 anti-HD-seronegative patients without haemophilia, 26 (67%) were hepatitis B e antigen positive; in the sera of 20 patients (51%) HBV-DNA was demonstrated, but only 6 patients (15%) had pathological liver function tests. In conclusion a high seroprevalence of HDV infection was found in haemophilic patients treated with non-pasteurized commercial clotting factor concentrates. An endemic spreading of HDV infection in patients without haemophilia with chronic HBV infection could not be detected.(ABSTRACT TRUNCATED AT 250 WORDS)

Acquired Immunodeficiency Syndrome↗
PubMed1991

Prenatal diagnosis of atrioventricular canal malformations with up-to-date echocardiographic technology: report of 14 cases.

Fourteen fetuses with atrioventricular canal malformations were examined by two-dimensional echocardiography, pulsed-wave Doppler echocardiography, and color Doppler flow mapping. Eleven fetuses had complete and three fetuses had partial atrioventricular canal malformations. Nonimmune hydrops fetalis was associated with six cases, and fetal arrhythmia was seen in three cases. With two-dimensional echocardiography, the atrioventricular canal malformations could be diagnosed accurately. The inclusion of color Doppler flow mapping, however, provided additional hemodynamic information that was important from the prognostic point of view. Incompetence of atrioventricular valves could be demonstrated in 10 of 14 cases by Doppler echocardiography. In nine cases, detailed Doppler echocardiographic evaluation of the regurgitation jet was possible. The proportion of systolic time during which atrioventricular valve insufficiency was demonstrated was related to the occurrence of nonimmune hydrops fetalis. When insufficiency of atrioventricular valves was associated with hydrops (four cases), a pansystolic insufficiency was always present. In cases without hydrops (five), regurgitation was confined to early systole. Thus a reliable method for semiquantitative evaluation of the degree of insufficiency seems to have been found. Moreover, an association appeared to exist between the occurrence of hydrops fetalis and the proportion of atrial area that was taken up by regurgitant jet area, as determined by planimetry in the four-chamber view. Prenatal diagnosis was confirmed by autopsy or neonatal cardiac evaluation. Only one neonate survived in our series. Two were stillborn, four died during the neonatal period, two died during infancy, and pregnancy was electively terminated prematurely in five cases. Eight fetuses were found to have a karyotypic abnormality.

Adult↗
PubMed1991

Ontogeny of the benzodiazepine receptor in human brain: fluorographic, immunochemical, and reversible binding studies.

The prenatal and postnatal human ontogeny of the central benzodiazepine receptor was investigated in six different brain regions between week 24 postconception and age 14 years. Binding studies, which were performed with [3H]flunitrazepam [( 3H]FNZ), revealed a steep increase in receptor density postnatally in frontal cortex and cerebellum. Bmax values were higher in medulla oblongata, pons, and thalamus than in cortex and cerebellum up to week 26. After that, receptor densities declined significantly in medulla and olive. The same tendency was apparent in pons, whereas receptor density remained unchanged in thalamus. The early ontogeny of the benzodiazepine receptor was also evaluated in fluorographs [( 3H]FNZ) and immunoblots using the alpha 1-subunit-specific monoclonal antibody (mAb) bd-24. Specific radiolabeled proteins with molecular weights of 53K and 59K were visible in cortical membranes from gestational week 8, the earliest time investigated. During further development, the intensity of the 53K band increased without changes in the 59K band. As in other species, postmortem proteolysis in human brain led to a specifically labeled peptide of 47K. The mAb bd-24 immunolabeled only the 53K protein and the 47K peptide.

Adolescent↗
PubMed1990

Molecular mass distribution of water-soluble crystallins from the human foetal lens during development.

The water-soluble crystallins of twenty human foetal lenses with gestational ages of 112-231 days were analysed by size-exclusion chromatography. The crystallin distribution showed similar patterns for all foetal lenses, but clear changes in the proportions of different crystallins were evident. The distribution showed that the water-soluble part of all the lenses already contained high-molecular-mass material. Also beta-crystallins of high molecular mass (beta H), formed by post-translational changes, were detected in all stages. During gestation, the percentage of high-molecular-mass crystallins and of alpha-crystallins of low molecular mass (alpha L) decreased significantly. The total beta-crystallins (beta T) and the total gamma-crystallins (gamma T) increased significantly. The low Mr crystallins were resolved into three peaks, designated beta s-, gamma H- and gamma L-crystallins. They increased significantly during development. These significant increases of the low Mr crystallins took place exclusively in the developing lens. The rate of protein synthesis of the low Mr crystallins was 23% of the total water-soluble crystallin synthesis rate.

Chromatography, Gel↗
PubMed1990

Protein profiles of microsections of the fetal and adult human lens during development and ageing.

The water-soluble proteins of the human fetal lens (175- and 285-day-old) contain HM-, pre-alpha-, alpha-, beta- and gamma-crystallins. Using the frozen-sectioning technique, it can be demonstrated that the fetal lens does not have an homogeneous distribution of crystallins, but there are gradual differences between the cortices and the nucleus. The frozen-sectioning technique shows for the adult lens significantly increasing amounts of beta-crystallins of pI 4.95-5.55, especially at the posterior supra-nuclear layer, increasing amounts of HM-crystallins and decreasing amounts of beta-crystallins of pI 5.80-7.05 in the nucleus. This microsectioning technique was correlated with Scheimpflug photographs of the fetal and adult lens. In the fetal lens, the anterior capsule and 2 peaks in the anterior and posterior supranuclear layers could be visualized after densitometry. In the adult lens 5 layers could be demonstrated, e.g. the anterior capsule, the anterior supranuclear layer, the nucleus, the posterior supranuclear layer and the anterior capsule.

Aging↗
PubMed1989

Intrauterine mediastinal teratoma associated with non-immune hydrops fetalis.

We describe a rare case of non-immune hydrops fetalis caused by mediastinal teratoma. The sonographic appearance was that of a mixed cystic and solid mass in the antero-superior mediastinum. The teratoma, on post mortem, extended cranially to the upper part of the thyroid, exerting pressure and causing deviation of the trachea, oesophagus, and aortic arch. The pathogenesis of non-immune hydrops fetalis suggests obstruction of venous return caused by this tumour.

Adult↗
PubMed1989

[Emergency separation of a neonatal xypho-omphalopagus twin].

We report on the emergency separation of xyphophagus-omphalophagus conjoined twins. The twins were delivered by Caesarean section in the 35th week of pregnancy. They were conjoined between the omphalus and xyphoid process and had a fusioned common liver. All other organs including the peritoneal cavities were separate. One of the twins showed normal development, whereas the other was multifocally deformed with microcephalus, complex vitium cordis, microintestine and malformation of the extremities. Due to the extremely poor general condition of the deformed twin immediate emergency separation was mandatory even before completing the diagnosis of circulatory condition and liver formation. The deformed twin died during the operation and the fully developed twin on the 7th day after the operation after cerebral haemorrhage with haemorrhagic diathesis. The report gives a detailed description of the specific foetal circulatory condition and the problem of a postoperatively occurring partial necrosis of the liver.

Cardiovascular Abnormalities↗
PubMed1989

[Fluorocytophotometic DNA studies in kidney carcinoma].

DNA measurements in renal cell carcinoma are demonstrating a considerable tumor heterogeneity. Tumor DNA content is one of important prognostic factors. Renal cell carcinomas can be divided into two main groups by single-cell cytophotometry: diploid/near diploid in grade 1 and 2 and mainly aneuploid in grade 3 with variable blocks and peaks. In different tissue samples from the same carcinoma we can found different polymorphism and DNA content.

Adenocarcinoma↗
PubMed1988

Early ontogeny of the central benzodiazepine receptor in human embryos and fetuses.

The early ontogeny of the central benzodiazepine receptor (BZR) was investigated in human embryos and fetuses between 7 and 26 weeks of gestation. Brain tissue was gained from terminated pregnancies or spontaneous abortions. Binding studies, which were performed with 3H-flunitrazepam (FNZ), revealed that specific benzodiazepine binding is already detectable at an embryonal age of 7 weeks post conceptionem. Binding at this early stage can be displaced potently by clonazepam and the inverse agonist beta-CCE. Additionally, 3H-FNZ binding is enhanced by GABA. Thus, benzodiazepine binding is of the central type. Receptor density increases steeply in whole brain between weeks 8 and 11 of gestation. In frontal cortex receptor density increases gradually between weeks 12 and 26 of gestation. No specific fetal disease entity (including trisomy 21) was consistently associated with exceptionally high or low Bmax-values.

Brain↗
PubMed1988

Prenatal diagnosis and management in fetuses with cystic hygromata colli.

We report on 45 fetuses with prenatally diagnosed bilateral cystic hygromata colli by ultrasound. Two of the 45 cases involved a twin pregnancy with only one fetus showing hygromata colli. In 2 cases there was only isolated hygromata colli. The other 43 cases showed the signs of non-immune hydrops fetalis. The cytogenetic findings were: 9 fetuses with Turner syndrome, 1 fetus with Turner mosaicism, 1 fetus with trisomy 18, 6 fetuses with trisomy 21, 12 fetuses with normal karyotype, and 16 fetuses with a failed chromosome culture. In fetuses with Turner syndrome and normal karyotype the sonographic findings were similar: massive bilateral hygromata colli, substantial fluid accumulations in skin and body cavities, oligohydramnios and intra-uterine growth retardation. In the cases with trisomy 21, the relative size of the hygromata colli was smaller. Intra-uterine growth retardation and oligohydramnios were not observed. The sole survivor of our group (elective pregnancy interruption: 30 cases; intra-uterine death: 14 cases) (karyotype: 46,XY) presented sonographically with massive ascites, a moderate cystic hygroma, and appropriate fetal development, and a normal amniotic fluid quantity. These findings are analysed in order to provide recommendations for prenatal diagnosis, prenatal management and genetic counselling of the couples concerned.

Adult↗
PubMed1987

Water-soluble and insoluble crystallins of the developing human fetal lens, analyzed by agarose/polyacrylamide thin-layer isoelectric focusing.

Eight human fetal lenses, selected on basis of normality, of a gestational age of 119 to 231 days were analyzed by thin-layer isoelectric focusing (IEF) in agarose/polyacrylamide gels. This method was adapted for the separation of lens crystallins into HM-, alpha-, beta- and gamma-crystallins. It is especially suitable for analysis under non-denaturing conditions of high-molecular-weight crystallins and of insoluble crystallins (WI) solubilized in formamide. The latter could be separated into HM-, alpha- and gamma-crystallins. During fetal development, a considerable increase of gamma-crystallin proportion was observed due to new synthesis. This increase was balanced by a decrease of alpha-crystallin proportion.

Acrylic Resins↗
PubMed1987

Age-related changes in water and crystallin content of the fetal and adult human lens, demonstrated by a microsectioning technique.

By means of a microsectioning technique, human fetal and adult lenses were divided into 8-16 fractions. The dry weight (DW), the water content, and the amounts of water-soluble (WS) crystallins and water-insoluble (WI) lens fraction were determined in each layer or fraction. Within the lens, the changes of these parameters are gradual and continuous. The lens nucleus contains the highest amounts of DW and WI fraction, and the lowest amounts of water and WS crystallins. There is a relative dehydration of the lens during development and ageing, most pronounced in the lens nucleus.

Aging↗