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Biomedical subjects

J Briner

Publications and source records attributed to J Briner.

At least 73 records · Page 4Linked to original sources
PubMed1988

Cerebral blood flow velocity waveforms in hydrocephalic fetuses.

Pulsed Doppler recordings of intracranial arterial velocity waveforms were made in 9 hydrocephalic fetuses during the second or third trimesters of pregnancy. Normal, increased, and decreased velocity waveform indices could be measured in these cases, and 1 fetus presented retrograde diastolic flow. Cerebral blood flow patterns of hydrocephalic fetuses seem to differ individually from case to case, presenting no uniform waveform type in late pregnancy. There was no obvious correlation between ventricular dilatation and the type of the velocity waveform.

Cerebral Arteries↗
PubMed1988

[Intraoperative spasmolysis with glucagon in an irreducible invagination].

We present 4 cases in which atraumatic reduction of an intussusception was achieved only after intraoperative intravenous administration of Glucagon. Because of this observation all our cases of the past 10 years with intussusceptions where bowel resection was necessary, were reviewed. Intraoperative macroscopic and histological findings revealed that bowel resections were not only necessary because of necrosis but also because of bowel wall lesions caused by traumatic reduction or the impossibility to reduce the intussusception. This aspect and the successful use of Glucagon during operation demonstrate that Glucagon should be administered wherever atraumatic surgical reduction of intussusception is not possible. This procedure may contribute to avoid unnecessary bowel resections.

Female↗
PubMed1987

Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?

We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 3 1/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occurrence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene.

Abnormalities, Multiple↗
PubMed1987

Computed tomography in Hallervorden-Spatz disease.

We report computed tomography (CT) findings of an autopsy-proven case of late-infantile Hallervorden-Spatz disease (HSD). The patient's symptoms started in preschool age with dystonic posture, leading shortly to complete loss of verbal communication and ambulation with marked torsion dystonia. She died aged 23 years. Cranial CT, performed at the age of 18 years, showed moderate infratentorial atrophy, but cortical cerebral atrophy, ventricular enlargement and caudate atrophy were all absent; there were symmetrical areas of increased density in the globus pallidus, and ironstaining pigment deposits at this site were confirmed post mortem. In the appropriate clinical setting such CT findings may be diagnostically helpful in the late-infantile form of HSD. However, experience with CT as well as with magnetic resonance imaging in HSD is still very limited.

Adult↗
PubMed1987

Fryns syndrome in a girl born to consanguineous parents.

An overweight female newborn with multiple congenital anomalies died shortly after birth. The parents were cousins. The following abnormal findings were noted: Broad, square-shaped head with flat nose, misshapen ears, cleft palate, receding chin, short neck with additional skinfolds, disproportionately short limbs, transverse palmar creases, distal digital hypoplasia with hypoplastic finger- and toenails. Autopsy disclosed a number of further malformations including: dysplasia of the hippocampus, atypical lobation of the lungs with cystic-adenomatoid malformation of the left upper lobe, malrotation of the intestine, bilateral cystic renal dysplasia, bilateral atretic ureters plus a right accessory hydroureter, hypoplastic urinary bladder, uterus and vagina duplex and elongated, partly cystic ovaries. The pattern of malformations in this girl is very similar to that of 7 previously reported patients including two sets of siblings and one instance of parental consanguinity. All patients died shortly after birth. For proper genetic counselling and for prenatal ultrasonographic diagnosis in a further pregnancy, it is important to recognize patients with the Fryns syndrome.

Abnormalities, Multiple↗
PubMed1987

Transient ovarian testosterone and androstenedione hypersecretion: a cause of virilization or premature pubarche in prepubertal girls.

In 2 girls with signs of androgen overproduction, the usual causes were excluded. Patient 1 (3.6 years) presented with hypertrophy of the clitoris, patient 2 (7.8 years) with pubic and axillary hair. Urinary steroids and plasma dehydroepiandrosterone, 17-hydroxyprogesterone and estradiol were normal, but testosterone and androstenedione elevated in both cases. Echography showed polycystic ovaries. Testosterone and androstenedione returned to normal after laparotomy and removal of ovarian cysts in patient 1, and spontaneously in patient 2, in whom puberty started later appropriately for bone age.

Androstenedione↗
PubMed1987

[Mucopolysaccharidosis 6-A (Maroteaux-Lamy disease): comparison of clinical and pathologico-anatomic findings in a 27-year-old patient].

The autopsy of the 27-year-old patient suffering from a severe form of mucopolysaccharidosis type VI-A (Maroteaux-Lamy) described in the article by Rampini et al. revealed the compressive cervical myelopathy (C1) to be due to a severe, slit-like deformity of the vertebral canal which was due to a massive thickening of the ligaments, dislocation of the posterior arch of the atlas and broadening of the dura. The massive, generalized disorder of the enchondral ossification involving mainly tubular bones and spine, led to short stature, arthrosis of large joints, and to an angular thoraco-lumbar kyphoscoliosis. Our patient had a massive V-shaped stenosis of the upper third of the trachea. The atrio-ventricular valves of the heart were thickened, and there was fibrosis of the endocardium. The cardiac conduction system displayed fibrosis and foam cell transformation of the fibroblasts in the bundle of His, a lesion not previously reported. Light and electron microscopic investigation showed a massive increase of mucopolysaccharides mainly in the matrix of the fibrous tissue and of the cartilage. Furthermore, the fibroblasts and chondrocytes as well as the hepatocytes and the ganglion cells of the central nervous system contained increased amounts of glycosaminoglycans.

Adult↗
PubMed1987

Transplant glomerulopathy.

Transplant glomerulopathy is the most common glomerular lesion noted in long-standing renal allografts and isografts. Morphologic examination of 328 specimens taken from 177 patients because of decreasing function revealed transplant glomerulopathy in 55, rejection glomerulonephritis in 39, de novo glomerulonephritis in 20, and recurrent glomerulonephritis in 9 patients. The most important microscopic finding is a finely lamellar thickening of the glomerular basement membrane. Endothelial swelling and mesangial proliferation are minor. Immunofluorescence is weekly positive and electron-dense deposits are missing. There is, however, subendothelial electron-lucent thickening of the lamina rara interna comparable to the lesions seen in thrombotic microangiopathy. Transplant glomerulopathy can be superimposed on other glomerular transplant lesions and is typically associated with chronic rejection; in fact it can been considered to be the glomerular equivalent of chronic vascular rejection.

Basement Membrane↗
PubMed1986

Neuronal intestinal dysplasia--clinical and histochemical findings and its association with Hirschsprung's disease.

Neuronal intestinal dysplasia (NID) is a disturbance of the innervation of the gut. Its symptoms resemble the ones seen in Hirschsprung's Disease. Contrary to aganglionosis, however, there is hyperplasia of the ganglia. Our study revealed isolated NID (4/49 cases) to be eight times rarer than aganglionosis (33/49 patients). Combination of both diseases has been reported to occur in 20% of NID cases; we did however find it in 75% (12/16) of our patients. NID was located proximal to the aganglionic segment and reached the stomach in 1 case. Combination of both diseases resulted in superposition of symptoms, thus rendering impossible to differentiate between NID group A (with hypoplasia of sympathetic innervation and acute early onset) and group B (with normal sympathetic innervation and chronic, late onset) on clinical grounds only. Major malformations were present in 5/16 patients with NID; 2 of them had trisomy 21.

Child, Preschool↗
PubMed1986

[Oral teratoma (epignathus), a rare congenital abnormality].

We report on 2 newborn girls with congenital oropharyngeal teratoma (Epignathus). In both children the tumour was totally resected on the first days of life. The histopathological investigation shows tissue from all three germ layers. 11 and 19 months after excision there is no evidence of recurrence. Frequency, prognosis and therapy of oral teratomas are discussed.

Female↗
PubMed1986

Malignant melanotic neuroectodermal tumor of infancy: a case report.

We present a case of melanotic neuroectodermal tumor in the maxilla that followed an aggressively malignant course. In the first biopsy the tumor showed a classical histological picture, while in the last biopsy only malignant undifferentiated cells were evident. The tumor recurred twice after excision, and in spite of radiotherapy and various chemotherapeutic measures the patient died within 16 months of onset. Similar cases reported in the literature are discussed.

Child, Preschool↗
PubMed1986

Morphology of original and transplanted thymuses in severe combined immunodeficiency.

Twenty-six patients with severe combined immunodeficiency (SCID) were examined. In 20 cases no defect of the biochemical pathways was found; 6 cases showed a deficiency in adenosine deaminase (ADA) activity. In 19 cases histological sections of the thymus were available. In 3 cases, in addition to the original thymuses, transplanted thymic allografts were microscopically examined. The thymus in SCID without abnormality of the ADA pathway showed a uniform dysplastic pattern with only moderate variations related to mode of inheritance and length of survival. The thymus in SCID with ADA deficiency displayed a heterogeneous pattern ranging from almost normal to a completely dysplastic structure, whereas the transplanted thymic allografts presented either a normal or a dysplastic appearance. The morphology of the thymus is not pathognomonic of any given biochemical defect, clinical course, or type of SCID. SCID with apparently normal biochemical pathways probably results from a variety of pathogenetic mechanisms.

Adenosine Deaminase↗
PubMed1986

Severe neonatal centronuclear (myotubular) myopathy: an X-linked recessive disorder.

Prenatal onset and rapidly fatal course of centronuclear myopathy are described in four male newborns including two brothers. Diagnosis was established by muscle biopsy within the first week of life in two and at autopsy in the two other patients: Central nuclei, central aggregation of oxydative enzyme activity in the majority of muscle fibers and type 1 fibre hypotrophy were demonstrated. Prenatal manifestation included polyhydramnios, reduced fetal movements and breech presentation. All four newborns developed respiratory insufficiency requiring artificial ventilation immediately after birth. Severe muscular weakness and hypotonia as well as hardly elicitable grasping, deep tendon reflexes and Moro response were noticed. Additional findings included high arched palate, joint contractures, thin ribs, lung hypoplasia, abundant skin and cryptorchidism. In two families, the pedigree contains other affected males, suggesting X-linked inheritance. Seven female carriers were clinically healthy and one of them showed normal muscle histology. Fourteen previously published neonatal cases of centronuclear myopathy are reviewed and compared with our findings. This severe perinatal form of centronuclear myopathy has to be considered in male fetuses and newborns with polyhydramnios and respiratory failure due to muscular weakness or in infants who died of unexplained postnatal asphyxia. Diagnosis should be established by muscle biopsy.

Genetic Carrier Screening↗
PubMed1985

[Acute interstitial nephritis and uveitis: a recently recognized syndrome].

The case is described of a 14-year-old boy who presented with a 6-week history of fatigue, severe weight loss (15 kg) and glycosuria. On admission he was in non-oliguric renal failure (serum creatinine 1360 mumol/l) with moderate proteinuria (1.3 g per 24 h), glycosuria (9.5 g per 24 h) and generalized aminoaciduria. Renal biopsy showed acute interstitial nephritis (AIN) with severe mononuclear cell infiltration. No etiology was found. The patient required hemodialysis (5 times) and responded dramatically to therapy with prednisone (initially 75 mg per day), which was discontinued after 2 months. He presented again 11 weeks after admission with iridocyclitis of the right eye, and 2 months later with the same condition in the left eye. Response to local application of steroids was slow. The association of AIN with uveitis has so far been reported in 12 other pediatric patients aged 10 to 16 years, and in one adult patient; 64% were female. Uveitis often recurred, in contrast to nephritis. The etiology of the syndrome is unknown, a transient defect in cell-mediated immunity being postulated.

Acute Disease↗
PubMed1985

Neonatal nemaline myopathy presenting with multiple joint contractures.

A sporadic case of the rare and most severe neonatal form of nemaline myopathy is reported. Intrauterine manifestation included reduced fetal movements and breech position with a normal amount of amniotic fluid. After delivery by Caesarian section at 34 weeks of gestation the infant boy, who was not asphyctic, failed to establish spontaneous breathing and required immediate intubation and ventilation. Marked muscular hypotonia and weakness persisted and reflexes remained absent. Hip dislocation, joint contractures, absent palmar creases, prominent lateral palatal ridges and cryptorchidism were interpreted as consequent to prenatal paralysis. The boy died after 5 h due to hyaline membrane disease and meconium aspiration. At autopsy the skeletal muscles were found to be hypoplastic. The muscle fibres contained numerous rods, a typical finding of nemaline myopathy. Nemaline myopathy should be considered in fetuses and newborns with multiple joint contractures, severe muscular weakness and respiratory insufficiency.

Arthrogryposis↗
PubMed1985

Prenatal sonographic diagnosis of Jeune syndrome.

Asphyxiating thoracic dysplasia (Jeune syndrome) is characterized by a narrow thoracic cage, which causes severe respiratory failure with frequent perinatal death; brachymelia, predominantly of the rhizomelic type; renal anomalies; and characteristic radiographic findings of ribs, pelvis, and long tubular bones. Inheritance is autosomal recessive. Prenatal sonographic examination was performed at 17 and 19 weeks of a fetus of parents whose first child had died of Jeune syndrome. The length of the humeri, femora, and tibiae was short (below the mean) for gestational age, and the thorax was abnormally flat and narrow. The iliac wings were square-shaped. We concluded that the fetus had Jeune syndrome. The characteristic skeletal changes of Jeune syndrome are distinct enough at 17 weeks of fetal age to permit sonographic diagnosis.

Adult↗