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P Emmrich

Publications and source records attributed to P Emmrich.

At least 19 recordsLinked to original sources
PubMed1996

Type II collagenopathies: are there additional family members?

The type II collagenopathies represent a group of chondrodysplasias sharing clinical and radiological manifestations which are expressed as a continuous spectrum of phenotypes, ranging from perinatally lethal to very mild conditions. Their common molecular bases are mutations in the type II collagen gene (COL2A1). We describe one case of lethal platyspondylic dysplasia, Torrance type, and a variant of lethal Kniest dysplasia, neither of which has been reported as a type II collagenopathy. Biochemical studies of cartilage collagens and morphological analysis of cartilage sections suggest that abnormalities of type II collagen structure and biosynthesis are the main pathogenetic factors in both cases. Thus, the phenotypic spectrum of type II collagenopathies might be greater than hitherto suspected.

Bone Development↗
PubMed1993

[Pathology of the placenta. XIII. Pathological anatomy of the placenta and placental insufficiency].

An account is given of morphological issues relating to placental insufficiency. Variable manifestations of placental insufficiency in foetuses and newborns are described in some detail. Reference is made to morphological clues useful in diagnosing causes of placental insufficiency. It proved to be particularly difficult to find quantitatively recordable parameters for such diagnosis, comparable to morphological indicators resulting from various placental measurements or from determination of exchange area and thickness measurement of placental basal membranes. Most of these quantitative methods, after all, would not even be applicable to routine examination. All the other diagnostic criteria of placental insufficiency are part of obstetrics (placental hormone production, measurement of uterus circulation and of intervillous space). In a more specialized section of this paper, reference is made to various pathologico-anatomic patterns of placental disorders and their specific relevance to placental insufficiency. Circulatory disorders (maternal side), placental inflammation, impaired maturation and obliterative endarteriitis were the most common findings in this order.

Female↗
PubMed1992

Lymphadenopathy in connection with human herpes virus type 6 (HHV-6) infection.

Two siblings and their mother developed afebrile generalized lymphadenopathy. The lymph nodes were movable and painless. During the course of the illness, the mother and one child developed an uncharacteristic rash. Increased titers of human herpes virus type 6 (HHV-6) antibodies were found in all three family members and in an unrelated patient with lymphadenitis colli. The enlarged lymph nodes decreased in size within several weeks. We speculate these symptoms to be caused by an infection with this lymphotropic virus.

Adult↗
PubMed1992

[Pathology of the placenta. XI. Feto-fetal transfusion syndrome].

An account is given in this part of the series of placental alterations in the foeto-foetal transfusion syndrome of monochorial twin pregnancies. Arteriovenous or less often arterio-arterial anastomoses between the two parts of the placenta were found to be conditions for such foeto-foetal transfusion. Blood is discharged on the foetal side from one twin to the other, with one of the twins being adversely affected in growth and general development (donor), which may be as bad as acardia in case of very early onset of transfusion. The other twin (recipient) will undergo better development but will as well be impaired by cardiac hypertrophy and other organic lesions due to excessive inflow of blood. The placenta of the donor--quite often meeting intra-uterine death--usually is smaller than that of the recipient. It is severely anaemic and, additionally, may be of inadequate maturity. The placenta of the recipient may exhibit strongly pronounced hyperaemia, up to A and B angiomatosis. The author describes two of his own cases, with reference being made to morphological findings.

Embryonic and Fetal Development↗
PubMed1992

[Malignant tumor of the autonomic nervous system of the stomach (GAN-tumor)--case report of a new entity].

Gastrointestinal autonomic nerve (GAN)-tumors are extremely rare. So far seven cases of intestinal and four of gastric GAN-tumors were reported. GAN-tumors, also termed plexosarcomas, arise from autonomic nervous system plexuses of the gastrointestinal tract such as those of Meissner or Auerbach. We report a case of a metastatic gastric GAN-tumor in a 40-year-old woman. A small, 1 cm in diameter, submucosal plexosarcoma located in the posterior gastric wall and a 1.5 kg, 23 x 15 x 11-cm metastasis located retroperitoneally behind the stomach between liver, spleen and pancreas without discernable invasion of any of these organs were found. En-bloc resection of the retroperitoneal mass, the spleen, the pancreatic tail, and a part of the posterior gastric wall adhering to the mass were performed. In addition, lymph node metastases in splenic hilum were noted, and resected. In CT scan liver metastases were detectable fourteen months after surgery. The diagnosis is based on light microscopical, ultrastructural, and immunhistochemical analyses. The prognosis of GAN-tumors is fatal. In spite of radical excision 8 of 11 reported patients died few month after surgery while local recurrences and/or metastases in regional lymph nodes and in the liver were found. The response to chemotherapy was poor.

Adult↗
PubMed1992

[Pathology of the placenta. XII. Tumors of the umbilical cord and placenta].

Benign and malignant tumours of the umbilical cord and placenta are the topics covered in Part XII of this general account under the above heading. Angiomas, angiofibromas and teratomas, all of them of rare occurrence, are the benign tumours, with the chorioangioma being the best known of them. The trophoblast tumours proper include chorionic epitheliomas and choriocarcinomas. While histological differentiation is not possible between these two, they still are biologically benign or malignant. They may develop in the wake of normal pregnancy or abortion or hydatidiform mole. Southeast Asia is a geographically preferred region for hydatidiform mole and chorionic epithelioma. Differentiated growth behaviours of trophoblast tumours are attributable to immunological aspects. It is certainly a rare event to have a high degree of tissue compatibility (HLA antigens) between tumour and maternal organism. This may at least offer an explanation for the low incidence of choriocarcinomas in the northern hemisphere. In Southeast Asia, efforts should be made to clear up the causative background of high incidence of hydatidiform mole, since the latter most probably is the basis for development of choriocarcinoma.

Choriocarcinoma↗
PubMed1992

[Pathology of the placenta. IX. Intrauterine fetal death. Regression. Edema and fibrosis of the villous stroma].

Intra-uterine fetal death along with discontinuation of fetal circulation is followed by intraplacental processes which result in the following pathologico-anatomic pattern: Fetal vessels in terminal villi are doomed to collapse, with the major arteries being occluded due to proliferation. This is followed by substantial proliferation of connective tissue in peripheral villi, and by total disappearance of capillaries in terminal villi. Possible remnants of cytotrophoblast are lost from trophoblast epithelium, with the syncytiotrophoblast undergoing proliferation. Multiple syncytial proliferations were recorded from cases in which some time had passed from the event of intra-uterine fetal death. Stromal fibrosis is introduced by transient activation of mesenchyma of the terminal villi. Complete regression with totally fibrosed (collagenized) villi, vascular occlusion of stem villi, numerous spots of syncytial proliferation, and increased deposition of intervillous fibrin ist the morphological equivalent of missed abortion. Stromal fibrosis of terminal villi is a consequence of regression after intra-uterine fetal death or may possibly result from impairment of placental circulation of different causative background. Certain forms of fibrosis may possibly develop via stromatic edema (e.g. diabetes mellitus, blood group incompatibility, immunological disorders) together with edema-activated mesenchymal proliferation. Edema of villous stroma may be of diffuse or focal manifestation in the terminal villi and in advanced cases may affect all parts of the placenta. It is usually linked to diseases in which the entire fetoplacental unit is prone to edematization (maternal diabetes mellitus). Severe stromatic edema leads to formation of so-called stromatic ducts in which edema liquid is accumulated but is incapable of flowing out for absence of lymphatic drainage of the placenta.

Chorionic Villi↗
PubMed1992

[Pathology of the placenta. X. Syncytial proliferation, calcification, cysts, pigments and metabolic disorders].

Part X of this review is devoted to the remaining pathologico-anatomic patterns which are associated with regressive alterations. Increased syncytial proliferation is the most important aspect within that complex, since it may be a consequence of intervillous and intravillous hypoxia and may thus provide a clue to effects of that kind. Placental calcification may be subdivided by two major groups. The first is relating to "dystrophic" calcification following the same rules in the placenta as it does in other places, in other words, it is calcification of necrotic tissue portions or acidotic areas of decreased circulation. Calcification may just as well occur to particular structures of the placenta, such as the epithelial basal membrane, syncytial proliferations or in walls of vessels. Placental cysts usually are localized at the placental base (in septa), their development being owed to hypoxic events during ontogenesis. They actually are pseudocysts. Placental icterus (along with severe maternal icterus) is macroscopically identifiable with unambiguity. The biliary pigment, histologically, is localized in HOFBAUER cells. Additional reference is made to melanin deposits (in concomitance with congenital giant naevus) and placental alterations in conjunction with rare metabolic disorders.

Calcinosis↗
PubMed1991

Noninvasive assessment of coarctation of the aorta: comparative measurements by two-dimensional echocardiography, magnetic resonance, and angiography.

Fifteen patients, aged between 9 and 21 years (mean, 15.1), with native coarctation of the aorta (CoA) or suspected recoarctation after surgical repair, underwent three different diagnostic procedures. Two-dimensional echocardiography (2D echo) and magnetic resonance imaging (MRI) of the thoracic aorta were performed in all patients; 14 patients underwent aortography, and digital subtraction angiography of the aorta was performed in one (after injection via a central venous catheter). Conventional electrocardiographic (ECG) gated MRI was performed, using the sagittal plane, a 256 x 256 acquisition matrix, multi-slice technique and a slice thickness of 10 mm. Diameters at the coarctation site were determined by all methods. Additional diameters of the descending aorta and the aortic arch were measured by MRI and echocardiography, respectively. All noninvasively obtained diameters were compared with angiographic data. Ultrasound imaging of the aortic isthmus was achieved in seven of 15 patients and of the aortic arch in nine of 15. The mean difference compared with angiographically determined diameters was 1.7 (0-7) mm, being greater for the coarctation site [mean, 2.2 (0-4)]. MRI images of the aortic isthmus were obtained in all patients, but the difference to angiographically determined diameters was slightly higher [mean, 3.2 mm (0-8)] than the ultrasound results. This deviation was presumably due to technical conditions, such as slice thickness and orthogonal imaging planes. Including all diameters, the correlation to invasive measurements was r = 0.82 (SEM = 3.1) for MRI and r = 0.89 (SEM = 2.3) for echo recordings.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1991

[Exanthema subitum, encephalopathy and hepatitis caused by human herpesvirus type 6 (HHV-6) in a 10-month-old infant].

We describe the unusual clinical course in a case of exanthema subitum with affection of the liver and central nervous system in a 10-months-old girl. HHV-6 infection was confirmed serologically (positive HHV-6 IgM from 10th to 29th day, increasing IgG-titres). At the beginning of the illness convulsions with preference to the right side were noticed, which were consistent with an encephalitis (on top to a suspected pre/perinatal lesion) and resulting in spastic triplegia. Nuclear magnetic resonance imaging and cranial computertomographic results showed severe, predominantly left-sided cerebral lesions. In addition there was clinical and biochemical evidence of an associated hepatitis. Human herpesvirus-6 has been identified as the cause of exanthema subitum. In addition, the virus is known to cause other clinical entities (lymphadenopathy, febril seizures, hepatitis, postinfectious chronic fatigue a.o.) and has been identified in brain tissues. Our observations show that the course of exanthema subitum can be complicated by affection of the liver and central nervous system. At present it is impossible to estimate the clinical outcome in our patient.

Brain Damage, Chronic↗
PubMed1991

[Pathology of the placenta. VI. Circulation disorders of the placenta. Maternal circulation (intervillous space)].

Disorders of intervillous circulation are covered in this sixth part of the account of Pathology of the Placenta. Proposed in this paper are a new setup and modified nomenclature in which the term of "infarction" is definitely abandoned, as there can be neither genuinely anaemic nor haemorrhagic infarction in the placenta. Alterations which we consider as a formally pathogenetic chain are discussed by the order of focus of villous collapse, reticular intervillous fibrin deposition, and chronic disorder of intervillous circulation. These should be distinguished from subchorionic fibrin deposition, a special case of chronic circulatory disorder. Reference is finally made to intervillous haemorrhage and retroplacental haemorrhage (premature detachment of the placenta). An attempt is made, in conclusion, to give an account of the causative genesis of impairment to intervillous circulation together with various pathologic-anatomic findings recordable from myometrial and decidual arteries.

Arteries↗
PubMed1991

[Pathology of the placenta. VII, Inflammation of the placenta].

A general account of routes of infection is followed by reference to localisations of placental infection. The most common routes of infection are transmembrane, transdecidual, haematogenico-maternal, and haematogenico-foetal. Intra-uterine infections with placental involvement may be caused by several types of pathogens, with particular reference being made to listeriosis, tuberculosis, and lues, while virus infections may be associated with rubella and cytomegaly and protozoonosis with toxoplasmosis. Unambiguous morphological traces are left in the placenta merely by few of these "specific" infections. A possible pathogen, therefore, can be rarely concluded from the type of inflammatory placental involvement. Reference is also made to "villitis of unknown aetiology", an aetiologically obscure, probably haematogenico-maternal infection of the placenta. Introduction of this term to histological routine diagnosis is recommended. This account of placental inflammation is completed by explanations on relationships between inflammation and impaired maturation of the placenta as well as between inflammation and intervillous fibrin deposition or chronic disorders of intervillous circulation.

Female↗
PubMed1991

[Pathology of the placenta. VIII. Asphyxial infiltrates of the placenta].

Asphyxial infiltrates of the afterbirth (umbilical cord and placenta) are believed to be non-inflammatory round-cell to leucocytic infiltrates on the following sites: wall of greater vessels of umbilical cord, chorionic membrane, and, less often, stem villi as well as in the chorionic membrane proper. There has also been cellular to primarily leucocytic subchorial demarcation, usually between chorionic plate and Langhans fibrin or even in Langhans fibrin. Also recorded were parietal thrombi in greater arteries of chorionic membrane and stem villi, usually in concomitance round-cell infiltration of the arterial wall in the sense of asphyxial infiltrates. Those alterations are considered to be an entity associated to intra-uterine foetal asphyxia, with extended duration of parturition being though to play a particular role as a trigger factor of asphyxia. The author's own investigations of such alterations to afterbirths from high-risk pregnancies as well as to a consecutive series of newborns without increased risk have shown for either group that no statistical relationship existed between high-risk factors of asphyxia prior to or during labour, on the one hand, and such asphyxial infiltrates, on the other, not even in cases of prolonged labour. While we are not in a position at present to clearly define this complex in terms of genetic causality, we should like to maintain it under the heading of "asphyxial infiltrates" for the purpose of placental diagnosis.

Chorion↗