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[Bilateral familial anophthalmos].

In the examined family the proband, a 14 months old male, presented a bilateral anophthalmos, bilateral cryptorchism, phimosis and decalcification of the nails. The palpebral fissures and the eyelids are smaller than normal; the orbit was empty, clad by a connective tissue without ocular buds. The testicles are unpalpable in the inguinal canal. The proband have a normal karyotype. Also a brother of the proband, dead for meningitis (age five months), had bilateral anophthalmos. The maternal branch of the family is lacking in hereditary pathology. On the contrary, the anamnesis of the paternal branch present very interesting data. His grandmother married twice; from the first marriage came, at the second generation, the sibship of the father, who had a sister with Franceschetti syndrome and another sister with double lower dental arch. From a second marriage originated, at the second generation, eleven siblings sibship, all seriously malformed and a dead infant, but the first-born having bilateral anophthalmos.

Anophthalmos↗

[Active otosclerosis of the stapes footplate: histological and clinical aspects of its influence on the perilymph (author's transl)].

Pathologic capillaries are usually seen in the center of an otospongious process. Next to obliteration, dilatation and increased permeability a loss of basement membrane structure is evident. Around the capillaries exists a wide network of mesenchymal cells which have a glycogen like mass within the cytoplasm; glycogen can be delivered into the extracellular fluidspace. Free erythrocytes are located around many vessels. Near the margin of the lacunae decalcificated areas are seen; in the center of these areas osteocytes undergo lysis; they show intracytoplasmatic deposits of apatite which we assume to be located within the mitochondria. The collagen structure in the neighbourhood of the osteocytes seems to be damaged. Once the resorptive process has reached the perilymphatic surface of the footplate there comes to an connection between the otospongiotic lacunae and the vestibule. Free erythrocytes, glycogen like drops and lysosomes are delivered into the perilymph. Comparing the histological results with the operative results in patients with floride otosclerosis we conclude that operation should be done as early as possible to prevent damage from the inner ear, caused by the continuous intoxication of the perilymph from the otosclerotic focus.

Bone Resorption↗

[Diagnosis and treatment of primary hyperparathyroidism].

OBJECTIVE: To study the diagnosis and treatment of hyperparathyroidism. METHOD: 37 patients with primary hyperparathyroidism (PHPT) were confirmed pathologically. The course of the disease varied, the longest one being 14 years and the shortest one 3 months. RESULT: 35 patients had parathyroid adenoma, 1 hyperplasia of parathyroid, and 1 carcinoma of parathyroid. The main clinical manifestation was symmetrical pain of the supporting bones and joints, hypercalcemia, hypercalcinuria, hypophosphatemia, hyper-alkaline phosphatasemia, and increase of iPTH in peripheral blood. X-ray examination showed osteoporosis and decalcification, accompanied with multiple fracture occasionally, we injected (99m)Tc and MiBi into inferior thyroid artery as a demonstration for the diagnosis of tumor of parathyroid. CONCLUSION: The key procedure of the operation was to search for tumor of parathyroid. We used thymus-thyroid ligament as guide and injected methylene blue into the artery during operation to search thyroid.

Adult↗

Enzyme histochemistry and immunohistochemistry on biopsy specimens of pathologic human bone marrow.

We have systematically investigated a variety of fixation and plastic embedding procedures and arrived at a method that allows processing of approximately 2-micron sections of bone marrow biopsies for examination by light microscopy. More importantly, this method permits the use of enzyme histochemical and immunohistochemical procedures that are rapidly becoming mandatory in the diagnosis of hematologic malignancies. Over 200 full-length bone marrow biopsy specimens were fixed in a mixture of paraformaldehyde, glutaraldehyde, and acrolein, dehydrated in acetone, and embedded in a mixture of methyl and glycolmethacrylate. All procedures were carried out at 4 degrees C. Decalcification was unnecessary. Sections 2-micron thick were cut and incubated for peroxidase, naphthol AS-D chloroacetate esterase, alpha-naphthyl butyrate esterase, acid phosphatase (with and without tartrate), or alkaline phosphatase and then examined by light microscopy. Specimens could be prepared for examination within 48 hr. This approach, which provides definitive markers for various hematopoietic cell lines in intact tissues, is invaluable when aspirated material is unavailable. It is also useful in the analysis of focal lesions of bone marrow due to inflammation or neoplasia and shows potential as an investigative tool. For example, we have discovered that early myelofibrosis is accompanied by a marked increase in the number of alkaline-phosphatase-positive reticulum cells.

Bone Marrow↗

Immunohistochemistry in bone marrow pathology: a useful adjunct for morphologic diagnosis.

Pathomorphological examination of trephine biopsies of the bone marrow (BM) represents a standard method for the diagnosis and staging of hematologic neoplasms and other disorders involving the BM. The increasing knowledge about the genetic basis and biology of hematologic neoplasms, as well as the recently proposed WHO classification system, provide the framework for an accurate diagnosis. Although conventional morphology remains the gold standard for paraffin-embedded BM trephines, immunohistochemical stainings have become an integral part of the diagnostic workup. Antibodies suitable for paraffin sections are generally applicable to BM trephines, but modifications of staining protocols may be necessary due to the alternative fixatives and decalcification procedures used for BM biopsies. The indications for immunostainings range from confirmation and classification of lymphoma involvement, subclassification of acute leukemias, and estimating blast counts in myelodysplastic and myeloproliferative syndromes to characterization of BM involvement in nonhematologic neoplasms. Although subtyping of NHL in the BM is more difficult from the point of morphology, classification of the entities that frequently involve the BM, especially the small B-cell lymphomas, can easily be achieved with the help of immunohistochemistry. In this review, we try to summarize the current state of the art in BM immunohistochemistry for the diagnosis of hematologic disorders. Moreover, diagnostic algorithms and useful antibody panels are proposed for a rational and cost-effective approach.

Algorithms↗

[Necrosis of the head of the femur in hyperuricaemia (author's transl)].

The article reports on two cases of a typical necrosis of the head of the femur, known as "idiopathic necrosis of the femoral head". Hyperuricaemia was present in both cases. In the first female patient, scintigraphy showed accumulation of activity unilaterally in the region of the ankle joint without any pathological x-ray finding in that region. The necrosis of the head of the femur was atypically associated with a lateral narrowing of the joint space and apposition of the bones at the lateral joint edges. Angiography did not yield any abnormal finding in the hip joint. In the case of the second (male) patient, the necrosis of the femoral head was combined with diaphyseal osteonecrotic changes bilaterally, distal to the femoral shaft, and there was also a diffuse decalcification, not recorded so far, metaphyseally distal to the femoral shaft and proximal at the shaft of the tibia, reaching to the epiphyseal cicatrices. Hyperuricaemia was combined with hyperlipidaemia. In both patients, the hyperturicaemia dropped to normal levels under appropriate medication; in the second patient, this was also true of the hyperlipidaemia and hypercholesterolaemia. No further progress was seen from the time the blood levels had become normal.

Adult↗

[Experience with the clinical use of demineralized bone autografts in traumatology and orthopedics].

The authors analyse the results of clinical application of osseous allografts demineralized by 1, 2-2, 4-3, 6 N solutions of hydrochloric acid. Of 92 patients with various pathologies of the locomotor system the postoperative results were positive in 85 cases (92.4%) and negative in 7 cases (7.6%). The analysis has demonstrated that the negative results were not connected with the kind of the osteoplastic material.

Adolescent↗

[Actinomyces infection in a compound odontoma].

INTRODUCTION: Compound odontoma is an abnormal development of dental tissue which is characterized by regular and ordinate structures that resemble a normal tooth. Actinomyces is an abnormal inhabitant of the oral cavity which is able to become pathological whenever the specific or non specific defense mechanisms of an individual may fail. MATERIALS AND METHODS: Described is a case of 60 years old male with no deficit of his immune system confirmed by various analysis. There is one year history of an intermittent pain to the left half of his mandible. An x-ray suggests an odontoma. The gengiva, near the lesion, appears to be ulcerated; two fistulous tracts with the oral mucosa and one with the skin area are seen. After decalcification the tissue obtained from the lesion has been fixed in formalin and included in paraffin. The slides were stained with Haematoxilin-Eosin, PAS and Grocott's silver method. RESULTS: The lesion consists of well differentiated enamel and dentin including a fragment of the pulp featuring the typical aspects of compound odontoma. In addition the pulp shows an intense infiltration of granulocytes, plasma cells and numerous capillaries; around the pulp an extensive area of necrosis is present, in which there are eosinophilic aggregates of amorphic and granular matrix suggestive of an infection by actinomyces. This was confirmed with PAS and by an intense urgyrophilia. CONCLUSION: Described is a case of compound odontoma complicated by an actinomycosis infection in a patient with a well functioning immune system which appears to be the first case reported in the literature, to the best of our knowledge.

Actinomycosis↗

Immunohistochemistry and microwave decalcification of human temporal bones.

Processing of human temporal bones is a long, expensive process and the resulting celloidin sections are difficult to use for immunohistochemistry. We tested the ability of immunohistochemical assays to work in human temporal bones that were decalcified using a microwave oven. Tissue was trimmed to an approximate cube (1.5-2 cm/side) containing only the cochlea and immersed in fresh EDTA with paraformaldehyde every 6 h. This sized block required 190-400 h to decalcify. The decalcified tissue was embedded in paraffin and sectioned. Sections were immunoassayed with anti-cytochrome c oxidase, anti-neurofilament or anti-peripherin. All three antibodies labeled the appropriate structures. This procedure may stimulate advancement in the understanding of human inner ear pathology.

Calcium↗

Eustachian tube goblet cell density during and after acute otitis media caused by Streptococcus pneumoniae: a morphometric analysis.

BACKGROUND: Prior investigations have shown that the number of mucus-producing goblet cells in the middle ear mucosa is highly increased during and up to at least 6 months after experimental acute otitis media. This may, in conjunction with deteriorated eustachian tube function, predispose to subsequent development of secretory otitis media. One reason for the deteriorated tubal function after acute otitis media has been suggested to be an excessive accumulation of mucus secretions, blocking the tube and thereby clearance of the middle ear. This investigation determines the density of the mucus-producing goblet cells in the eustachian tube during and up to 6 months after experimental acute otitis media. METHODS: Middle ear inoculation of Streptococcus pneumoniae in 25 rats. Groups of five animals, killed on Days 4, 8, 16, 90, and 180. Dissection and decalcification of the eustachian tube, followed by paraffin embedding and serial transverse sectioning, periodic acid-Schiff/Alcian blue staining and morphometric determination of the goblet cell density in every 20th section, using a light microscope. RESULTS: The goblet cell density was increased on Day 8 and later in the tympanic orificium, in addition to the tympanic and midportion third of the tube. Increased goblet cell density was seen in the pharyngeal third on Days 8 and 16, whereas no changes were registered in the pharyngeal orificium. Pathologic intraepithelial glands formed after the infection and goblet cells were found in mucosal areas normally devoid of these. CONCLUSIONS: The eustachian tube goblet cell density is increased during and up to 6 months after acute otitis media. Indicated excessive secretion of mucus by more goblet cells may contribute to the deteriorated eustachian tube function found after acute otitis media and thus predispose, sustain, or aggravate middle ear disease.

Acute Disease↗

Percutaneous transcatheter therapy of aorto-ostial stenoses.

The treatment of native coronary and saphenous vein graft aorto-ostial stenoses with balloon angioplasty (PTCA) has been associated with lower procedural success rates, more frequent in-hospital complications and a greater likelihood of late restenosis when compared with PTCA of non-ostial stenoses. The advent of ablative technologies and intracoronary stents have significantly altered both early and late outcomes of percutaneous intervention for aorto-ostial disease. The optimal approach to this complex lesion subset often involves decalcification or tissue ablation followed by stent deployment. Improvements in currently available stent technology including enhanced radial force and visibility, reduced thrombogenicity, and the availability of shorter stent lengths, may also facilitate stent deployment and further improve outcomes following percutaneous transcatheter therapy for aorto-ostial stenoses.

Angioplasty, Balloon, Coronary↗

Sudden cardiac death and acute pathology of coronary arteries.

The pathology of sudden cardiac death still is a matter of controversy, particularly with respect to the state of the coronary arteries. A recent study has shown a high incidence of acute lesions and suggests a causal relationship. The present study has been designed to verify whether or not acute coronary arterial lesions occur frequently in patients with sudden cardiac death. Sixteen hearts were available. In each instance the patient had died within 6 hours from the onset of myocardial ischaemia. The coronary arterial system was extensively studied by post-mortem coronary angiography, decalcification, serial blocking and histological sectioning. Acute coronary arterial lesions, defined as plaque fissure, 'isolated' plaque haemorrhage and 'isolated thrombosis', were found in 14 of the 16 hearts (87.5%). The total number of acute lesions in the 14 hearts was 28. In 9 hearts plaque fissures were present, in 7 'isolated' plaque haemorrhages and in 5 an 'isolated thrombus'. Half of all acute lesions had occurred in an atherosclerotic plaque of pre-existing 50-75% luminal narrowing. The present study endorses the concept that acute coronary arterial lesions occur in a high proportion of patients with sudden cardiac death, plaque fissures with intramural haemorrhage and intraluminal thrombosis being the most common abnormality. It is tempting to attribute causal significance to such lesions in patients with sudden cardiac death.

Acute Disease↗

Ancillary techniques in bone marrow pathology: molecular diagnostics on bone marrow trephine biopsies.

Pathologic examination of trephine bone marrow (BM) biopsies plays a central role in the diagnosis and staging of haematological neoplasms and other disorders affecting haematopoiesis. Haematopathology has been profoundly influenced by the advent of molecular genetic techniques suitable for paraffin-embedded tissues, and certain applications, such as the determination of B- and T-cell clonality, belong to its standard diagnostic repertoire. Many of these molecular tests can be performed successfully with nucleic acids extracted from BM trephine biopsies, if some technical aspects specific to this template source such as various fixation and decalcification procedures are taken into consideration. The current indications for molecular BM diagnostics range from the confirmation of lymphoma involvement with gene rearrangement analysis, demonstration of tumor-specific translocations in lymphoid and chronic myeloproliferative disorders along to the detection of microorganisms or marrow involvement by soft tissue sarcomas. The availability of quantitative polymerase chain reaction techniques for the investigation of allelic imbalances and gene expression levels in paraffin-embedded material also open new avenues for research and advanced diagnostics. The molecular detection of minimal residual disease in haematological neoplasms, especially in the context of new treatment strategies, will provide future challenges. This article summarizes the current state of the art in molecular diagnostics applied to paraffin-embedded BM biopsies.

Biopsy↗

Microwave histoprocessing of bone marrow trephine biopsies.

In recent years, the microwave oven has been increasingly used in the pathology laboratory for processing of tissue for diagnostic purposes with a remarkable reduction in processing time and also reports of excellent morphology and immunohistochemistry. We evaluated some of these processes on post mortem bone marrow trephine biopsies and describe a novel way of processing these biopsies in the microwave oven.

Biopsy↗

Arteriosclerosis of coronary arteries in sudden, unexpected deaths.

The authors graphically studied the topographic pattern and severity of coronary arteriosclerosis in arteriosclerotic heart disease (ASHD) sudden deaths using an improved technique involving in toto removal and decalcification of the main coronary tree. The study involved 171 cases of ASHD sudden death and 154 deaths from other causes. White males were the most severely affected group. The majority of the ASHD deaths had three or four major coronary vessels showing greater than 75% luminal stenosis; single-artery disease was a rare occurence. The intra- and interarterial pattern of coronary stenosis was equally severe and diffuse, with the exception of the arteries to SA and AV nodes. No small intramyocardial blood vessel disease was evident. Severe chronic coronary stenosis was associated with a high incidence of old myocardial infarction. The anatomical and pathological pattern of coronary stenosis in ASHD deaths appears to have ominous therapeutic implications.

Adult↗

Immunohistochemical detection of interstitial collagens in bone and cartilage tissue remnants in an infant Peruvian mummy.

We investigated the immunohistochemical presence of various collagen types in bone and cartilage tissue from an infant Peruvian mummy dating between 500 and 1000 A.D. which had been excavated at the necropolis of Las Trancas in the Nazca region in Peru. Following careful rehydration and decalcification of the tissue, the mummy tissue showed morphologically good preservation of the matrix, which could be shown to be composed of various collagen types in a typical pattern. Bone consisted of a collagen I matrix with a small rim of collagen III and V at the endosteal lining and a pericellular collagen V staining around osteocytic holes. In the hypertrophic cartilage of the epiphyseal growth plate, a typical pattern of collagen types II and X could be found. These observations provide evidence that in well-preserved mummy tissue the antigenic determinants of major matrix components are still adequately preserved for an immunohistochemical analysis. This technique may thus be a very helpful tool for the analysis of pathologic processes of historic bone tissue. It may also allow in certain circumstances a distinction between pseudopathologic tissue destruction and pathologic tissue alteration.

Bone and Bones↗

Physiological, pharmacokinetic, and pharmacodynamic changes in space.

Medications have been taken since the first Mercury flight in 1967 and, since then, have been used for several indications such as space motion sickness, sleeplessness, headache, nausea, vomiting, back pain, and congestion. As the duration of space missions get longer, it is even more likely that astronauts will encounter some of the acute illnesses that are frequently seen on Earth. Microgravity environment induces several physiological changes in the human body. These changes include cardiovascular degeneration, bone decalcification, decreased plasma volume, blood flow, lymphocyte and eosinophil levels, altered hormonal and electrolyte levels, muscle atrophy, decreased blood cell mass, increased immunoglobulin A and M levels, and a decrease in the amount of microsomal P-450 and the activity of some of its dependent enzymes. These changes may be expected to have severe implications on the pharmacokinetic and pharmacodynamic properties of drug substances.

Aerospace Medicine↗

[Methods of histological treatment of the labyrinth].

The otic labyrinth presents one of the most difficult objects for histological investigations as it is situated in the thick layer of the temporal bone and has a very complex structure. At the same time, a method for treating this object is not given in general hand-books on pathological techniques. The methods for histological treatment of the otic labyrinth elaborated by Wittmaack and later on modified are presented in the article. Methods for fixation, vital fixation including, decalcination, dehydratation and saturation of the objects prepared for histological investigation are described in details. Methods for the temporal bone orientation in order to obtain sections of the internal otic structures in the most advantageous plane depending on the purpose and aim of the investigation are recommended.

Animals↗