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Biomedical subjects

N Böhm

Publications and source records attributed to N Böhm.

At least 37 records · Page 2Linked to original sources
PubMed1990

[Prenatal diagnosis of Pena-Shokeir syndrome in the 27th week of pregnancy].

We report on the prenatal diagnosis of a Pena-Shokeir syndrome sporadic case of the 27th week of pregnancy. Typical sonographical features are polyhydramnios, hypoplasia of lungs, foetal akinesia, reduced length of proximal and distal extremities and a striking discrepancy between biparietal and abdominal diameter. Differential diagnosis of polyhydramnios caused by foetal neuromuscular disorders is discussed.

Abnormalities, Multiple↗
PubMed1989

[Non-Hodgkin's lymphoma of the descending colon in a 6-year-old girl].

The most common site of non-Hodgkin lymphoma of the intestinal tract in children is the terminal ileum and the ileocecal region; boys are 5- to 10 times more frequently affected than girls, peak incidence is between 5 and 8 years of age. We present a 6-year-old girl with non-Hodgkin lymphoma of the descending colon.

Burkitt Lymphoma↗
PubMed1986

Sirenomelia and anencephaly in one of dizygotic twins.

The combination of sirenomelia and anencephaly was observed in a stillborn dizygotic twin. A review of the literature revealed no other patients reported to have both conditions. Various explanations concerning the genesis of sirenomelia, and also the combination with anencephaly, are discussed.

Anencephaly↗
PubMed1986

Identification of actin microfilaments in the intracytoplasmic inclusions present in recurring infantile digital fibromatosis (Reye tumor).

The diagnostic intracytoplasmic perinuclear inclusion bodies within the fibroblastic tumor cells of recurring digital fibrous tumor of childhood (Reye tumor) were found to be ultrastructurally composed of condensed microfilaments that were continuous with axially oriented cytoplasmic filament bundles running toward the cell membrane. Immunofluorescence microscopy performed with antibodies raised against vimentin and against actin revealed a strong positive reaction for vimentin in the tumor cell cytoplasm, whereas the spherical inclusion bodies were actin-positive. From these results the following conclusions may be drawn: (I) the mesenchymal origin of the Reye tumor cells is consistent with the identification of vimentin intermediate filaments and (II) the actin-positive spherical inclusion bodies appear to represent pathological aggregations of microfilaments.

Actin Cytoskeleton↗
PubMed1985

[Yersinia pseudotuberculosis infections. Etiologic clarification using fecal cultures].

Isolation of the causative organism in stool proved the aetiology of Yersinia pseudotuberculosis in two patients. In a 12-year-old boy the clinical picture was of appendicitis. After appendicectomy the histological findings provided the diagnosis. The second patient, a 2-year-old girl, had protracted enteritis, completely cured by a course of cotrimoxazole. Culturing of Y. pseudotuberculosis from stool has previously been very rare. But new methods of culturing and other recent advances provide a better chance of success. Isolation of the organism in the acute stage of the disease should be attempted both from stool and from any biopsy material obtained during operation.

Adolescent↗
PubMed1984

Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15.

A 20-day-old female neonate was admitted with symptoms caused by a large ventricular septal defect which was subsequently confirmed angiographically. Other clinical findings were pre- and postnatal growth retardation, microcephaly, dysmorphism of ears, fingers and feet. Cytogenetic analysis revealed a ring chromosome 15. Despite a palliative banding operation of the pulmonary artery, the infant succumbed to complications of her congenital heart disease in the 4th month of life.

Abnormalities, Multiple↗
PubMed1984

Virilization without adrenal hyperplasia in 21-hydroxylase deficiency during fetal life.

The characteristic excess production of androgens in the cortisol 21-hydroxylase defect is generally considered to be secondary to ACTH stimulation of alternate pathways. Whenever a morphological examination of the adrenals has been possible in this disorder, adrenocortical hyperplasia was a constant finding. The availability of methods for the prenatal diagnosis of the 21-hydroxylase defect has made it possible to examine some of the manifestations of this disorder during fetal life. We studied a severely virilized 20-week-old aborted female fetus with the 21-hydroxylase defect whose adrenals were neither grossly enlarged nor microscopically hyperplastic. In a pregnancy at risk for congenital adrenal hyperplasia due to a 21-hydroxylase deficiency, amniocentesis was performed in the 18th week of gestation. The 21-hydroxylase defect was established by HLA typing and highly elevated levels of 17-hydroxyprogesterone, testosterone, and androstendione in amniotic fluid. After counselling, the parents, who already had a girl with the salt-wasting form of 21-hydroxylase deficiency, wished termination of the pregnancy. The aborted 20-week-old fetus was within the normal range for gestational age in weight and height. The external genitalia were ambiguous and extremely virilized, with an enlarged clitoris and fused labioscrotal folds. A urogenital sinus opened at the base of the clitoris. The internal organs were female, with a normal uterus and ovaries. Both adrenals were normal in size and weight for their gestational age. Histological examination of the adrenals revealed no abnormalities, and no hyperplasia was detectable. Thus, the adrenals in the 21-hydroxylase defect during fetal life secrete excessive amounts of androgens and cause virilization in the absence of adrenocortical hyperplasia.

Adrenal Hyperplasia, Congenital↗
PubMed1984

[Leprechaunism (Donohue's syndrome). Clinical and pathologico-anatomical findings].

Leprechaunism is a very rare condition of obscure aetiology. At the age of three weeks the neonate described in this report lost all subcutaneous fat in spite of additional parenteral nutrition. He acquired purulent pneumonia, and finally died of septicaemia. The typical stigmata were a prominent nose, broad mouth with putty lips, and large, hypertrophic , backwards rotated ears, cutis laxa, atrophy of adipose tissue and gynaecomastia with hirsutism. Since the first report (1948), 32 patients have been described in detail. Compared with these reports of dysendocrinism we observed an excessive proliferation of various tissues, e.g. of the epithelia of the epidermis, bronchi, collecting tubules of kidneys, bile-ducts, and pancreatic ducts. Moreover, almost complete atrophy of lymphoid tissue was remarkable.

Abnormalities, Multiple↗
PubMed1983

Congenital aortic thrombosis with complete obliteration of the aortic arch and the great vessels.

Thrombosis of the great arteries rarely occurs in the neonate. We report a case of thrombosis of the aortic arch, the brachiocephalic truncus, the left carotid and subclavian arteries, seen in a one-day-old neonate. The clinical findings were at first misdiagnosed as interrupted aortic arch syndrome, though, in retrospect echocardiography was very suggestive of the correct diagnosis. On the basis of the histological examination we assume, as the most likely cause for thrombosis, an aortitis in the prenatal period. Following thrombectomy and Gore-Tex bypass from the ascending to the descending aorta, combined with ligature of a PDA, the child developed a low output state and died on the table. The postmortem examination revealed that the latter was due to multiple infarcts of the left ventricular myocardium.

Aorta↗
PubMed1983

Familial Cushing's syndrome due to pigmented multinodular adrenocortical dysplasia.

Cushing's syndrome was diagnosed in a 14 year old girl and, 5 years later, in her nephew (sister's son) also when he was 14 years of age. Administration of tetracosactid (Synacthen) did not stimulate adrenocortical function in either patient, nor did dexamethasone suppress the elevated urinary steroids in the girl, and only partially suppressed them in the boy. Both patients were adrenalectomized and made an uneventful recovery. The surgical specimens were identical both on gross inspection and histologically, showing the typ ical morphological features of pigmented multinodular adrenocortical dysplasia. We believe that this lesion represents an inherited adrenocortical maldevelopment (rather than true neoplasia) leading to an autonomous adrenocortical hyperfunction which typically manifests itself clinically during adrenarche (i.e. functional adrenocortical maturation) at the beginning of puberty. Family Cushing's syndrome, caused by pigmented multinodular adrenocortical dysplasia, represents a disease entity.

17-Ketosteroids↗
PubMed1983

[Malignant pyloric stenosis caused by cancer in para-pyloric ectopic pancreas].

Gastrointestinal symptoms with epigastric pain, nausea and loss in weight occasionally occur in patients with ectopic pancreas. Although ectopic pancreas is often found in the stomach, carcinoma in this ectopy is rare. This paper reports a case of pancreatic carcinoma arising in ectopic pancreas located in the gastric wall and causing pyloric obstruction. Malignant pyloric obstruction was the only radiographic sign. Microscopic examination led to the final diagnosis.

Adenocarcinoma↗