Search PubMed⌕ Search

Biomedical subjects

J M Graham

Publications and source records attributed to J M Graham.

At least 199 records · Page 11Linked to original sources
PubMed1986

A cluster of Pallister-Hall syndrome cases, (congenital hypothalamic hamartoblastoma syndrome).

We report on three infants with hand anomalies and congenital hypopituitarism. In two of the cases, a hypothalamic tumor was found; the third infant died without postmortem brain studies. Family history in the first case suggested possible familial recurrence; the mother's sister had died at 17 hr of age with polydactyly, microglossia, and flat nasal bridge (no autopsy done). Our second case was born by cesarean section after a pregnancy complicated by extremely low maternal estriols. At birth, hypopituitarism was diagnosed, a cranial CT scan was read as normal, and hormonal replacement was begun with thyroxine, hydrocortisone, and growth hormone. At 11.5 mo of age she developed seizures; and a repeat CT scan showed a mass extending beneath the hypothalamus. This tumor was removed surgically at 12 mo, the first successful treatment of this disorder. Our third possible case had a bifid epiglottis, hypopituitarism, and hand anomalies. A CT scan at birth failed to reveal a mass in the hypothalamus. This child died from complications of untreated hypopituitarism, and no neuropathology studies were done. These three cases were conceived between March 10th and April 17th in three different years in three geographically contiguous counties of Vermont. Clustering in time and space and possible familial recurrence, in one of these cases, suggest a possible gene/environment interaction.

Abnormalities, Multiple↗
PubMed1986

Management of subglottic stenosis: experience from two centres.

The incidence of subglottic stenosis in children has risen rapidly in the last 20 years as more advanced techniques enable younger preterm neonates to survive. There has been a similar rise in the number of different surgical methods devised to alleviate the stenosis; success has been claimed for each technique. The importance of normal laryngeal growth throughout an often protracted period of surgical intervention may, however, have been underestimated. This study analyses the data from two units in London over the last five years and assesses retrospectively the benefit of different surgical approaches.

Child↗
PubMed1986

Causes of limb reduction defects: the contribution of fetal constraint and/or vascular disruption.

Causes for limb defects are often heterogeneous and difficult to discern purely on the basis of their anatomic nature. Because limb defects are common, and because their causes are poorly understood, their occurrence frequently generates concern over the role of prenatal events and exposures. This article serves to guide clinicians as to the proper work-up for such congenital limb anomalies. This evaluation should include a detailed family history, examination of limbs of close relatives, teratogenic history (with full knowledge of which teratogens do and do not cause limb anomalies), evaluation of the uterus, pathologic evaluation of the placenta, and thorough examination of the affected infant for associated defects.

Amniotic Band Syndrome↗
PubMed1986

Dominantly inherited unilateral terminal transverse defects of the hand (adactylia) in twin sisters and one daughter.

Most previous cases of unilateral terminal transverse defects of the hand have not been familial. Several previously reported cases of apparent autosomal dominant inheritance of such defects have subsequently been reclassified as type B brachydactyly. We report a pair of adult twin women with unilateral terminal transverse defects affecting the left hand in one woman and the right hand in the other woman. The latter woman has one daughter with a unilateral terminal transverse defect affecting the left hand. The hand anomaly is characterized by absence of the terminal portions of digits 2 to 5 with a mildly hypoplastic thumb (adactylia). Tiny nail remnants are evident on the remaining digital stumps, and no soft tissue syndactyly is apparent. At 2 years of age, the daughter has hypoplastic first, fourth, and fifth metacarpals with no ossification of the second or third metacarpals or any of the phalanges. The affected mother has hypoplastic metacarpals for digits 2 to 4 and a vestigial fifth proximal phalanx on the affected hand, with no other phalanges evident by roentgenogram other than those of the thumb. The mother's twin sister has similar findings, except the ossified phalangeal remnant is on her second and third fingers rather than her fifth finger. Doppler flow arterial patterns appeared normal in each hand of affected family members. The other hand and both feet are clinically and radiologically normal in each case, and the family history is negative for any other individuals with limb anomalies. A review of the literature suggests that this family may very well be unique.

Adult↗
PubMed1986

Correction of congenital auricular deformities by splinting in the neonatal period.

Many congenital ear deformities involve abnormal plical folding. This appears to be a result of deficient intrinsic and extrinsic auricular muscle activity as well as intrauterine pressure effects. These deformities can usually be corrected by appropriate splinting in the neonatal period, a time when estrogen activity is increased and the ear is very malleable. The methods used and the results of treatment are presented.

Ear, External↗
PubMed1985

The effect of ionophores and related agents on the induction of doming in a rat mammary epithelial cell line.

Addition of dimethyl sulfoxide (DMSO) and the mammotropic hormones prolactin, hydrocortisone, insulin, and estradiol to confluent cultures of the epithelial cell line Rat Mammary (Rama) 25 increases dramatically the formation of domes in the cell monolayer after 48-72 hr. Associated with the increase in doming is an increase of 24% in the activity of the Na+/K+ ATPase. Both Ca2+ (A23187) and Na+ (monensin, gramicidin J, melittin) ionophores can replace DMSO in inducing domes, whilst the K+ ionophore valinomycin inhibits doming. However, there are no synergistic nor additive effects, respectively, with suboptimal or optimal concentrations of A23187 and melittin together. Ouabain, at concentrations which inhibit the Na/K ATPase in vitro, and amiloride, at concentrations reported to inhibit the passive transport of Na+, both inhibit completely the formation of domes induced by DMSO, A23187, and melittin. EGTA, however, inhibits only the induction of doming by DMSO and A23187; it is without effect with melittin. A23187 and melittin induce the major polypeptide changes that occur in doming cultures with DMSO, and most of these changes are also inhibited with ouabain. It is suggested that one possible interpretation of the findings is that the induction of doming by DMSO in Rama 25 cells occurs by means of sequential increases in Ca2+ and Na+ influxes into the cell, and that the increased intracellular concentration of Na+ so produced stimulates the Na+/K+ ATPase, with a net effect of pumping liquid beneath the cellular monolayer.

Amiloride↗
PubMed1985

Pathologic features of the CHARGE association: support for involvement of the neural crest.

Defects associated with choanal atresia include coloboma, cardiac anomalies (usually involving the conotruncal region), physical or mental retardation, genital hypoplasia, and abnormalities of the ear. This constellation of defects is known as the "CHARGE" association and may be accompanied by other anomalies. Many of these defects seem to result from abnormalities in the development, migration, or interaction of cells of the cephalic neural crest. The range of variation in neural crest development is substantial, as indicated by the rather large number of malformation complexes and syndromes that are related phenotypically to the CHARGE association. The increasingly unwieldy nature of this collection of malformations demonstrates the need for an expanded classification of the "neurocrestopathies."

Abnormalities, Multiple↗
PubMed1985

Five-year experience with PTFE grafts in vascular wounds.

From 1978 through 1983, 206 patients had 236 polytetrafluoroethylene (PTFE) grafts inserted in vascular wounds. More than 85% of injuries were due to gunshot wounds, shotgun wounds, or stab wounds. Arterial grafts were inserted into vessels of the upper extremity (38.8%), lower extremity (46.1%), neck and chest (8.8%), and abdomen (6.3%). Grafts were most commonly placed in the brachial or superficial femoral arteries. Venous grafts were more commonly inserted into vessels of the extremities (96.7%), with the majority located in the superficial femoral vein. PTFE was found to be an acceptable prosthesis for interposition grafting in arterial wounds, but long-term patency was less than that seen when interposed saphenous vein grafts are used. Early and late occlusions were a significant problem with 4-mm PTFE grafts in the brachial artery, and this size is not recommended in this location. Peripheral PTFE graft infection did not occur in the absence of exposure of the graft or of osteomyelitis. Exposed grafts did not fare well and early coverage is recommended, even with extensive soft-tissue wounds around the graft. PTFE grafts inserted in proximal extremity veins are excellent temporary conduits which decrease hemorrhage in blast cavities and fasciotomy sites, but all grafts studied by venography at 7 to 14 days were either narrowed or occluded.

Adult↗
PubMed1985

The influence of raised body temperature on auditory evoked brainstem responses.

The influence of raised body temperature on the auditory evoked brainstem responses (BSER) has been investigated in 9 healthy volunteers. Ipsi- and contralateral BSER recordings were obtained before and after raising body temperature by at least 1 degree C by means of a specially constructed heat cradle. In two of the subjects further BSER recordings were obtained after their body temperature had been allowed to fall again to its preheated level. The results for wave V have been analysed in detail: the latency in the 5 men shortened from a mean of 5.84 ms (s.d. 0.193) to a mean of 5.62 ms (s.d. 0.185). For the 4 women the figures were 5.87 ms (s.d. 0.105) and 5.68 ms (s.d. 0.105). Using paired t-tests this change is highly significant (P less than 0.001). Similar changes were observed in the other waves although they were less consistent. In the 2 subjects who were allowed to cool again after heating, the BSER wave latencies returned to their preheated values. It is concluded that nerve conduction rates in the auditory pathway are influenced by body temperature and that this may have to be taken into account when interpreting BSER recordings.

Adult↗
PubMed1985

Phenotypic variation in LADD syndrome.

A mother and son are reported with chronic dacrocystitis, cup shaped ears, hearing loss, abnormal teeth, and poor formation of saliva and tears. They are similar to previously reported cases of lacrimo-auriculo-dento-digital (LADD) syndrome. The variability of expression of this autosomal dominant syndrome is discussed, and it is suggested that poor saliva and tear formation be added to the phenotype.

Deafness↗
PubMed1985

Heat- and alcohol-induced neural tube defects: interactions with folate in a golden hamster model.

Maternal hyperthermia or ethanol each can induce fetal neural tube defects (NTD) following exposures on the 8th day of gestation in golden hamsters. To explore the relationship between NTD and varying doses of either heat or ethanol, timed pregnant golden hamsters were exposed to various doses of either 25% ethanol, or heat in an incubator at 39.5 degrees C on the morning of the 8th day of gestation. Two doses of 0.015 ml/g body weight of 25% ethanol 4 h apart resulted in a 44% incidence of NTD when fetuses were examined on day 13. Single doses of 25% ethanol (either 0.015 or 0.0075 ml/g) resulted in very low incidences of NTD that were not significantly different from zero. A 50-min exposure to heat resulted in a 35% incidence of NTD. A shorter exposure (44 min) resulted in a 23% incidence, and a longer exposure (56 min) resulted in a 68% incidence of NTD. A 0.0075 ml/g dose of 25% ethanol, followed by these same durations of heat, resulted in incidences of NTD that were not significantly different from heat alone. In order to determine what effect folate supplementation might have on ethanol- or heat-induced NTD, osmotic pumps filled with either folate or saline were placed subcutaneously in pregnant hamsters on the 6th day of gestation. Animals were then exposed to ethanol or heat on the morning of day 8. No significant protection from NTD was evident among fetuses from mothers supplemented with folate despite significant elevations in their red cell folate levels on day 8 of gestation.

Animals↗