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Biomedical subjects

M Barr

Publications and source records attributed to M Barr.

At least 91 records · Page 5Linked to original sources
PubMed1988

Translocation (1;22) in a child with bilateral oblique facial clefts.

An eight month old girl was born with symmetrical bilateral oblique facial clefts and calcaneovarus foot deformity. CT scan of the head showed severe bilateral ocular hypoplasia and normal brain parenchyma. Peripheral blood karyotype showed a de novo balanced translocation between a chromosome 1 and 22. A submicroscopic imbalance secondary to this translocation cannot be ruled out. The pattern of the observed anomalies will help distinguish between oblique facial clefts and amniotic band disruption. Chromosomal studies should be performed in children with such rare malformations.

Abnormalities, Multiple↗
PubMed1988

Organ weight standards for human fetuses.

Five hundred fifty-eight fresh human embryos and fetuses were obtained from the universities of Washington and Michigan following spontaneous loss, elective termination, or neonatal death within 2 days of delivery. The body weights ranged from 1.5 to 1500 g. Each of these autopsied specimens was morphologically normal. Specimens from diabetic or hypertensive mothers were not included. Correlations between fetal body weight and weights of adrenal, brain, kidney, liver, lung, spleen, and thymus were established. For analysis, regression curves were calculated as quadratic equations of best fit by the weighted least squares. The relation of the weights of brain, heart, and liver to body weight appeared linear. The ratios of thymus, spleen, and kidney to body weight were nonlinear and gradually increased. The ratios of lung and adrenal weights to body weight were also nonlinear and gradually decreased. Ninety-five percent prediction intervals were generated for each of the eight organs using a computerized statistical package. The results compare closely with smaller studies in the literature.

Body Weight↗
PubMed1987

Trisomy 18 and hepatic neoplasia.

A 2 9/12-year-old girl with trisomy 18 presented with a 3-week history of low grade fever, abdominal distention, and hepatosplenomegaly. Abdominal cytotomography (CT) scan showed hepatic infiltration with a tumor mass presumed to be hepatoblastoma. She deteriorated rapidly and died 3 weeks later. No autopsy and/or biopsy could be done.

Abnormalities, Multiple↗
PubMed1987

Assessment of the usefulness of helium-oxygen maximal expiratory flow curves in epidemiologic studies of lung disease in children.

Density dependence of maximal expiratory air flow (DD) has been used in adults as a test of early obstructive airway disease (OAD). Whether DD is useful as an epidemiologic tool to identify childhood risk factors for OAD is not known. In a population-based sample of 133 children 8 to 23 yr of age, we calculated density dependence at 50 and 25% of vital capacity (DD50 and DD25) (the ratios between maximal expiratory flow rates breathing helium-oxygen and air gas mixtures at each of these lung volumes), and the volume of isoflow (VisoV) (the lung volume, expressed as a percentage of vital capacity, at which maximal flow rates when breathing each gas mixture are equal), measured airway responsiveness using eucapnic hyperventilation with cold air, and obtained health and household information with questionnaires. Mean levels (+/- SD) of DD50, DD25, and VisoV were: 1.49 +/- 0.14, 1.37 +/- 0.18, and 10.7 +/- 10%. The DD50 significantly increased with age in these growing children (p less than 0.05), but DD50 was found to be significantly lower (1.42 +/- 0.14 versus 1.52 +/- 0.13; p less than 0.01) among children with nonspecific bronchial hyperresponsiveness. The DD50 also was significantly reduced among children with a history of a recent upper respiratory tract illness (URI) (p less than 0.01). There were no significant associations of DD with history of asthma, personal smoking, parental smoking, or respiratory illness during infancy. The reproducibility of DD50 was assessed on a subsample of 90 subjects in whom DD was measured during 2 surveys 1 yr apart.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1986

Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus.

Four cases of holoprosencephaly with duplication/deletion involving chromosome 13 are presented and additional cases are summarized from the literature. When examined as a series, the duplications (trisomy 13, trisomy 13pter----q14) and deletions (deletion 13q12----qter, deletion 13q31----qter, ring 13 with deletion 13q14----qter) exclude deletion or duplication of single chromosome 13 bands as the cause for holoprosencephaly. Increased dosage of the 13pter----q14 region relative to the 13q14----qter region as the cause is also ruled out by the duplication 13q21----qter cases reported in the literature. Altered timing of forebrain development, causing reversion to a more primitive embryonic and phylogenetic brain structure, is related to dosage imbalance of at least two chromosome 13 regions.

Chromosome Aberrations↗
PubMed1986

Scalp neoplasm associated with cranium bifidum in a 24-week human fetus.

Prenatal ultrasonography at 24 weeks disclosed a fetus with a large mass protruding from the occiput. The mass was an invasive, undifferentiated mesenchymal neoplasm of the scalp associated with a defect in the occipital bone (cranium bifidum). The tumor may have derived from neural crest at the site of rhombencephalic closure. The tumor itself would seem to be a sporadic event, but the cranium bifidum may imply a recurrence risk of 2-3% for future pregnancies.

Adult↗
PubMed1986

Anaesthesia for Treacher Collins and Pierre Robin syndromes: a report of three cases.

We present three patients with Treacher Collins or Pierre Robin syndromes who had historical and physical evidence of airway obstruction, difficulty feeding, and sleep disturbances. These preoperative findings correlated with difficult airway management intraoperatively. Based on this experience, we recommend that children with obstructive symptoms have laryngoscopy prior to anaesthetic induction. If the glottic opening is visualized, inhalational induction can proceed. If the glottic structures cannot be visualized, then the anaesthetist must choose between awake oral or nasal intubation, elective tracheostomy, or fiberoptic intubation. In all cases, a tracheostomy tray should be ready and a surgeon experienced in paediatric tracheostomy should be in attendance. After intubation, anaesthesia is best maintained with oxygen and a potent inhalational agent. Extubation should only be done with the patient fully awake and with emergency airway equipment immediately available. Postoperatively, these patients should be transferred to an intermediate care area or intensive care unit where they can be observed closely since delayed complications of airway obstruction are common in this group of patients.

Anesthesia↗
PubMed1986

Intrapleural inoculation of candida in an infant with congenital cutaneous candidiasis.

Though several pathologic processes can produce large denuded skin lesions in very low birthweight infants, trauma is often diagnosed without further investigation. Failure to consider other causes may prevent institution of appropriate specific treatment and may contribute to the development of serious complications, as described in the present case report of a premature infant with congenital cutaneous candidiasis.

Adult↗
PubMed1986

Detection of neural tube defects with alpha-fetoprotein measurement in amniotic fluid. A protocol for managing elevated values.

The clinical efficacy of rocket immunoelectrophoresis (RIE) and radioimmunoassay (RIA) methods for the measurement of amniotic fluid alpha-fetoprotein (AFP) were compared in separate series of over 1,000 pregnancies each. Using a mean +3 SD limit, 21 of 1,414 pregnancies monitored with RIE and 21 of 1,006 monitored with RIA were interpreted as having borderline elevated values. Five of the elevated AFP values in each series represented abnormal fetuses. No neural tube defects went undetected, although one was recognized only with ultrasound. Only two of seven abnormal fetuses had a family history of neural tube defects, indicating that maternal serum AFP measurement is an important preventive measure in pregnancies that are not recognized as at high risk. The data support the use of commercially available RIA kits for amniotic fluid AFP measurement and suggest a protocol for management of elevated values.

Amniotic Fluid↗
PubMed1986

Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues.

Dissection of the abdominal vasculature in 11 cases of sirenomelia has demonstrated a pattern of vascular abnormalities that explains the defects usually found in this condition. The common feature is the presence of a single large artery, arising from high in the abdominal cavity, which assumes the function of the umbilical arteries and diverts nutrients from the caudal end of the embryo distal to the level of its origin. The steal vessel derives from the vitelline artery complex, an early embryonic vascular network that supplies the yolk sac. Arteries below the level of this steal vessel are underdeveloped and tissues dependent upon them for nutrient supply fail to develop, are malformed, or arrest in some incomplete stage. In contrast to the prevailing view that sirenomelia arises by posterior fusion of the two developing lower limbs, these studies suggest that the single lower extremity in sirenomelia arises from failure of the lower limb bud field to be cleaved into two lateral masses by an intervening allantois.

Abnormalities, Multiple↗
PubMed1985

Further delineation of the dup(3q) syndrome.

Three patients with duplication of 3q regions ranging from 3q25----qter to the entire long arm provide additional documentation of the dup(3q) malformation syndrome. Data on 40 cases now reported define a characteristic face with hirsutism, synophrys, broad nasal root, anteverted nares, downturned corners of the mouth, micrognathia, and malformed ears recognizable even in the 30-week fetus and distinct from that of the Brachmann-de Lange syndrome. Other characteristic anomalies include congenital heart anomalies involving primarily septal defects, hand malformations including simian creases, abnormal dermatoglyphics, clinodactyly or camptodactyly, omphalocele, skeletal anomalies, and genitourinary malformations. Severe mental and growth retardation are common in those patients (64%) who survive the first year. Chromosome study of relatives is extremely important for counseling because only 10 of 40 cases represented de novo duplications.

Abnormalities, Multiple↗
PubMed1985

The stillborn fetus: placental histologic examination in determining a cause.

This investigation was undertaken to determine whether or not histologic examination of the placenta contributed to a better understanding of the cause for an intrauterine fetal death. The placentas of stillborn fetuses delivered after the 20th gestational week were examined during a 4.5-year period (January 1979 to June 1983). Adequate information about the clinical history, autopsy examination, and placental histological examination was available in 89 cases. Delivery was usually within the first week after the fetal death. Significant histologic aberrations in the placenta were found in 87 (98%) cases. The most frequent abnormalities were those of vascular insufficiency, hemorrhagic endovasculitis, retroplacental hematomata, acute chorioamnionitis with fetal involvement, and erythroblastosis/hydrops. Histologic abnormalities were supportive of prior impressions in 67 (77%) cases, contradictory to prior impressions in ten (11%) cases, or the sole contributors in explaining the cause of death in ten (11%) cases. Routine histologic examination of the placenta after a recent fetal death provides helpful information in counseling the parents and in planning any future childbearing.

Chorioamnionitis↗
PubMed1984

The isolation, propagation and characterization of tissue-cultured equine rotaviruses.

From 105 field cases of diarrhea in neonatal or young foals, rotavirus was detected by electron microscopy (EM) and/or by enzyme-linked immunosorbent assay (ELISA) in the feces of 65 foals on 16 different premises. ELISA was performed with Rotazyme test kits developed by Abbot and Company for the detection of rotaviruses. Twenty-four field isolates from the feces of diarrheic foals with equine rotavirus infection as ascertained by EM were placed in MA-104 cell cultures after pretreatment of the viral suspension with 10 micrograms ml-1 of trypsin and incorporation of 0.5 micrograms ml-1 or 1 microgram ml-1 of trypsin in Earle's minimal essential medium (MEM), 2% lactalbumen hydrolysate, and antibiotics. The isolates that replicated in cell culture produced varying degrees of cytopathic effect. After the 24 isolates had been transferred 5 or 7 times in cell culture, viral particles were observed in 17 by EM, and 22 had positive ELISA tests as determined by visual color chart and spectrophotometric readings. Concentrated tissue-cultured viral antigen of 9 isolates fixed complement using Nebraska calf diarrhea rotavirus calf antiserum while four isolates gave negative results. The same 13 tissue-cultured viral suspensions failed to fix complement using reovirus antiserum. The 9th passages of two isolates (EID1 and EID2) yielded titers of 10(4.45) ml-1 TCID50 and of 10(4.95) ml-1 TCID50, respectively, as measured by cytopathic effect. After 13 tissue-cultured passages, 2 other isolates, EID3 and EID4, each had titers of 10(6.2) ml-1 TCID50 and of 10(5.95) ml-1 TCID, respectively. Cytoplasmic or intranuclear inclusions were not seen in any cells of the MA-104 infected cell cultures. Small, but distinct, plaques in MA-104 cell cultures were produced by the EID1 isolate. Polyacrylamide gel electrophoresis tests of EID1 and EID2 isolates at the 9th cell passage and EID3 and EID4 isolates at the 13th cell passage each showed that the RNA genome had 11 segments with a migrating pattern that was identical for each isolate and characteristic of rotaviruses. These 4 equine tissue-cultured isolates when tested by ELISA, utilizing a monoclonal antibody serum pool that cross-reacted with many rotavirus isolates, each gave positive values comparable to rotavirus antigen controls.

Animals↗
PubMed1984

Asymmetric skeletal anomalies in siblings.

We describe two siblings with asymmetric limb reduction malformations. Such anomalies are usually considered to result from sporadic events, but the recurrence in siblings without any identifiable teratogenic insult suggests a genetic etiology. This finding becomes important when parents are counseled about future pregnancies. The use of prenatal diagnostic techniques during subsequent pregnancies should be considered.

Abnormalities, Multiple↗
PubMed1984

Ultrasonography of the fetal cerebellum.

The transverse diameter of the cerebellum was measured with ultrasound in 265 normal fetuses ranging from 15 to 39 weeks gestational age and found to correlate closely with the biparietal diameter. The transverse diameter may be useful in estimating fetal age, particularly in breech presentation where extrinsic pressure may deform the skull and decrease the biparietal diameter. Failure to demonstrate the cerebellum could be a sign of Arnold-Chiari malformation or Dandy-Walker cyst.

Cephalometry↗