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Biomedical subjects

F Beer

Publications and source records attributed to F Beer.

At least 19 recordsLinked to original sources
PubMed2003

Embryoscopic and cytogenetic analysis of 233 missed abortions: factors involved in the pathogenesis of developmental defects of early failed pregnancies.

BACKGROUND: While chromosomal abnormalities are often the cause of missed abortions, other defects could be involved, which might be screened for by transcervical embryoscopy. METHODS: A total of 272 patients with missed abortion underwent transcervical embryoscopy prior to dilatation and curettage, together with cytogenetic analysis of chorionic villi, using either standard G-banding cytogenetic techniques or comparative genomic hybridization in combination with flow cytometry analysis. RESULTS: Visualization of the embryo or early fetus (12 cases) was successful in 233 patients, and karyotyping in 221. Among 233 examined cases, 33 had normal external features, 71 were classified as growth-disorganized and 129 had either isolated or multiple defects, including holoprosencephaly, anencephaly, encephalocele, spina bifida, microcephaly, facial dysplasia, limb reduction defect, cleft hand, syndactyly, pseudosyndactly, polydactyly, various forms of cleft lip and an amniotic adhesion. Of the 165 cases with an abnormal karyotype, there were 46 grossly disorganized embryos, 98 multiple defects, six single defects and 15 morphologically normal cases. Of the 56 cases with a normal karyotype, there were 20 grossly disorganized embryos, 16 multiple defects, four single defects and 16 morphologically normal cases. CONCLUSIONS: A total of 75% of the cases with missed abortion had an abnormal karyotype, 18% had a morphological defect with a normal karyotype, while no embryonic or chromosomal abnormality could be diagnosed in 7% of the cases. Correlation of morphological and cytogenetic findings in spontaneous abortion specimens could provide valuable information for genetic counselling and prenatal care in future pregnancies in couples with a history of repeated pregnancy loss.

Abnormalities, Multiple↗
PubMed2001

[Bullous cutaneous mastocytosis revealed by acute disease secondary to morphine administration].

UNLABELLED: Mastocytosis in children shows in three clinical forms. The rarest is the diffuse or bullous form. CASE REPORT: Since one month of age an infant showed a diffuse erythema and vesicle rash. At four months of age, serious discomfort after morphinic absorption led to the diagnosis of bullous cutaneous mastocytosis. Histologic examination confirmed this diagnosis. The clinical severity led to intravenous corticosteroid and antihistamine therapy. COMMENTS: Bullous cutaneous mastocytosis is unusual in children. However, it should be considered if there are any doubts because of its serious complications and iatrogenic therapeutic risks. Some serious cases require intravenous corticosteroid therapy. Appropriate care enables a normal development with a disappearance of the disease before the teenage years.

Acute Disease↗
PubMed2000

Neovascularisation of the testes by experimental omentotesticulopexy.

With the currently used surgical procedures, surgical correction of extreme forms of high undescended testes is associated with an atrophy rate of 10% to 30%. In this experimental study in two groups of Sprague-Dawley rats of pubescent age, we examined whether fixation (pexy) of an omental flap on the testis (omentotesticulopexy = OMTX) permits preservation of the viability of the parenchyma. A left-sided OMTX was performed in group 1 with the animals under general anaesthesia. An omental flap was prepared. The tunica albuginea of the testis planned for OMTX was pierced with a needle (26 x 23 G) within an area with a diameter of 1 cm; a puncture distance of 2 mm was used. The omental flap was then fixed using absorbable monofilament 6-0 interrupted sutures. Six weeks later the spermatic vessel was transected at this site. The right testis was left untouched throughout the procedure; it remained in situ. In group 2 only the spermatic vessel on the left side was severed. The right testis was not manipulated and remained in situ. After a total of 10 weeks both testes were removed from all rats and fixed in formalin. Standardised haematoxylin and eosin staining was performed and histological sections were obtained. The size of the testicles, Leydig-cell count, viability, and calcified areas within the tissue were determined for all testicles. Student's t-test was used for statistical evaluation. The study showed that OMTX leads to neovascularisation in the area of fixation and that viability can be preserved within this area.

Animals↗
PubMed2000

Serum protein 90K/Mac-2BP is an independent predictor of disease severity during hepatitis C virus infection.

The serum protein designated 90K/Mac-2BP has been found at elevated concentrations in the sera of patients with various types of cancer and viral infections. The importance of the 90K/Mac-2BP serum concentrations in predicting the response towards interferon-alpha treatment for hepatitis C virus (HCV) infection prompted us to utilize a new ELISA for soluble human 90K/Mac-2BP to monitor the serum concentrations of this protein in our HCV-positive patients. Seventy HCV-PCR and anti-HCV antibody positive patients were analyzed for their serum levels of aspartate aminotransferase, alanine aminotransferase, gamma-glutamyltransferase, cholinesterase, HCV-viral load, viral subtypes, and 90K/Mac-2BP. On correlation of age and 90K/Mac-2BP levels, we found an apparent correlation that was proved rather to be a strong dependence of 90K/Mac-2BP concentrations on disease severity/duration, which increases with age. Multiple correlation analysis demonstrated the independent nature of 90K/Mac-2BP concentrations, underscoring the potential high utility of this new marker. Our data corroborate the potential of the scavenger receptor family protein 90K/Mac-2BP as an independent predictor of disease severity during HCV infection.

Adolescent↗
PubMed1996

T-cell-mediated ganglionitis associated with acute sensory neuronopathy.

A 67-year-old man presented with acute painful sensory loss, areflexia, ataxia, urinary retention, and severe constipation and became unable to walk within 2 weeks. He died suddenly 5 weeks after the onset of symptoms. Autopsy revealed widespread inflammation of sensory and autonomic ganglia with immunocytochemical evidence of a CD8+ T cell-mediated cytotoxic attack against ganglion neurons. This observation suggests a novel pathogenetic mechanism of immune-mediated human ganglion cell damage comparable to mechanisms operating in polymyositis.

Acute Disease↗
PubMed1995

[Sarcoma botryoides (embryonal rhabdomyosarcoma) as an unusual diagnosis of cervix polyps].

Embryonal rhabdomyosarcomas of the female genital tract usually occur during infancy in the vagina. Only in rare cases can they be found in the cervix, where they are most commonly seen in adolescence. Their prognosis seems to be good since the introduction of a combination of surgery and chemotherapy. We report a case of cervical embryonal rhabdomysarcoma in IRS stage Ia in a 32-year-old female. After surgical resection and chemotherapy there has been no evidence of disease for 7 months. The case is compared with the published literature and prognostically relevant features, and possible problems in the differential diagnosis in biopsies are discussed.

Adult↗
PubMed1995

[Congenital pachyonychia, neurofibromatosis and sensory-motor polyneuropathy].

INTRODUCTION: A 71-year-old man consulted because he could not walk due to spots of hyperalgic, invalidating plantar keratodermia. A nearly identical symptomatology was observed in several members of the family suggesting an autosomal dominant hereditary disease due to painful callosities as described by Roth in 1978. CASE REPORT: The patient had pachyonychia on all fingers and toes, only the ring fingers and the fifth toes were not involved. Multiple epidermoid follicular cysts were also found on the trunk suggesting the diagnosis of type II hereditary pachyonychia or Jackson-Lawler disease. Axonal polyneuropathy was also found with cutaneous signs of neurofibromatosis. Cytology studies were performed in order to elucidate the relationship between these different findings. It was not possible to retain the diagnosis of complex axonal polyneuropathy as described by Tolmie where autosomal dominant inheritance of early onset ungueal dystrophy is associated with punctuated palmoplantar keratodermia and hereditary sensoromotor axonal neuropathy. CONCLUSION: This patient presented several types of complex neurocutaneous manifestations which could not be successfully related to each other.

Aged↗
PubMed1988

Familial porphyria cutanea tarda in a 7-year-old girl.

We report a case of familial porphyria cutanea tarda (FPCT) in a 7-year-old girl. The condition was exacerbated by low dose of hydroxychloroquin, but controlled by venesection. The favorable prognosis of FPCT should be further established by long-term prospective studies.

Child↗
PubMed1986

[Vesiculo-bullous lupus erythematosus. Immuno-electronic study].

The authors present a case suggesting either bullous systemic lupus erythematosus of dermatitis herpetiformis. An immunoelectron microscopic study located the immunoglobulin deposits beneath the cutaneous basement membrane zone. The nosological problem of possible relationship between systemic lupus erythematosus and epidermolysis bullosa acquisita is discussed.

Adult↗
PubMed1983

[Congenital generalized cutis laxa].

Congenital cutis laxa is a rare disorder of the elastic tissue in which lax skin gives a premature senile appearance. We report a new case of this disease associated with craniosynostosis. In the literature, the genetics of cutis laxa are not clear. Fleischmajer and Matus (18) considers an inherited autosomal recessive or an incomplete autosomal dominant trait, Mehregan (33) reports an autosomal recessive mode of transmission and Byers (10) an X-linked form. Among these cases, the most serious visceral involvement is the development of pulmonary emphysema. However, in cutis laxa with development retardation, variety of minor injury of the skeleton, the prognosis seems appears to be better.

Cutis Laxa↗
PubMed1982

[Cutaneous lesions due to lithium therapy (author's transl)].

We report two cases with adverse cutaneous reactions under lithium medication for manic-depressive disease. The first patient developed follicular keratosis, psoriasiform plaques and seborrheic dermatosis, the second only sclerotic plaques. Cutaneous side-effects that have been associated with lithium therapy include: acneiform eruption, pruritus, maculopapular eruptions, folliculitis, pretibial ulcerations, alopecia...and exacerbation of psoriasis. The exact pathophysiologic mechanism by which lithium induced cutaneous pathology is not completely understood. The various physiologic actions seem to be incomplete in substitution for other extracellular and intracellular cations and interference with cyclic adenosine monophosphate mediated processes.

Acne Vulgaris↗