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Biomedical subjects

J G Hall

Publications and source records attributed to J G Hall.

At least 235 records · Page 13Linked to original sources
PubMed1982

Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia.

Analysis of retrospective growth data from 72 patients with diastrophic dysplasia, 62 patients with spondyloepiphyseal dysplasia congenita and 61 patients with pseudoachondroplasia permitted the establishment of preliminary reference growth standards for height for each disorder. In addition, a comparison of mean height curves for these three disorders and achondroplasia revealed dissimilarities in growth patterns.

Achondroplasia↗
PubMed1982

The distal arthrogryposes: delineation of new entities--review and nosologic discussion.

We report on 44 patients (18 with additional affected family members), with congenital distal limb contractures identified from a large study of over 350 patients with congenital joint contractures. Fourteen propositi (seven familial cases, seven isolated cases) had a newly recognized form of arthrogryposis, which we have designated distal arthrogryposis type 1, with the predominant manifestations of autosomal dominant inheritance; tightly clenched fists at birth, with medially overlapping fingers, ulnar deviation, and camptodactyly in adults; and positional foot deformities. Contractures at other major joints are variable. There are no associated visceral anomalies; intelligence is normal. There can be marked intrafamilial and interfamilial variability. Twenty-two propositi with similar distal contractures had additional findings and were classified into five subcategories of distal arthrogryposis (type IIA-E). Among type II patients cleft palate, cleft lip, small tongue, trismus, ptosis, epicanthal folds, keratoconus, short stature, scoliosis, a unique hand position, and dull normal intelligence were seen. These characteristics were seen in various combinations and patterns and allowed sorting into groups that were the basis for the categorization. The remaining eight propositi were recognized to have previously described conditions with distal contractures and autosomal dominant inheritance, ie, the Freeman-Sheldon syndrome, trismus-pseudo-camptodactyly syndrome, congenital contractural arachnodactyly, and familial camptodactyly. Pathogenetically we postulate similar underlying defects of abnormal tendon attachments, attenuation, and absence; careful nosologic comparisons are important for prognostic counseling and habilitative management.

Adolescent↗
PubMed1982

Limb pterygium syndromes: a review and report of eleven patients.

Conditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with arthrogryposis. Emphasis was placed on inheritance and variability of distinct pterygium conditions. Eleven patients with limb pterygia were recognized in our study and are described here. Seven of the 350 patients with congenital contractures had the autosomal recessively inherited multiple pterygium syndrome (Patients 1-7). Three of the seven are sibs, a fourth was born to consanguineous parents, and three were chance isolated cases. These seven had multiple joint webs, unusual finger contractures, syndactyly, rocker bottom feet, ptosis, antimongoloid slant of palpebral fissures, epicanthal folds, highly arched palate, scoliosis, and short stature. There is intrafamilial variability. Three patients from one family had a lethal multiple pterygium syndrome. Two were monozygotic twins. They had webbing and contractures of the elbows, knees, neck, and fingers, calcaneovalgus deformity of the feet, and an unusual facial appearance: hypertelorism, flat nose, antimongoloid slant of palpebral fissures, apparently low-set ears. One had a cleft palate. Internal malformations included: bilateral pulmonary hypoplasia, small heart, absence of the appendix, and attenuation of the ascending and transverse colon. One sporadic case of lethal popliteal pterygium with facial clefts was studied. Multiple anomalies included: ankyloblepharon filiforme adnatum, upslanting palpebral fissures, hypoplasia of nasal cartilages, frenula, clefts into the oropharynx lateral to the mouth, apparently low-set ears with slit-like canals, large popliteal pterygia, syndactyly with fusion of all digits in hands and feet, and hypoplastic labia.

Abnormalities, Multiple↗
PubMed1982

Teratogens associated with congenital contractures in humans and in animals.

An evaluation of over 350 patients in a study of congenital contractures of the joints (arthrogryposis) included a review of family, pregnancy, and delivery histories for teratogenic exposures. Fifteen out of the total 350 patients studied had a possible teratogenic exposure: an infectious agent (viral or bacterial), maternal drug or toxin ingestion, chronic maternal neurologic or muscular illness, or a direct physical insult such as a structural uterine anomaly. Literature was reviewed for all human and animal cases reported with congenital contractures of the joints with an associated teratogenic insult. Those findings are discussed here.

Animals↗
PubMed1982

The role of law in protecting the child. A critique of the English system.

We have undertaken a critical appraisal of the current English system of law regulating: (1) Provision of services designed to prevent children coming into care of local authorities, which are the authorised agencies for dealing with children who are abused or neglected. (2) Ways of receiving children into care and also ways of terminating care orders. We question whether, and under what circumstances, care orders are really necessary. (3) Periodic reviews of children in care. We are critical of the English system and look to models in the USA as guides towards the possible reform of English law. We take the same perspective when considering termination of parental rights. In our opinion good laws do not of themselves provide the care and love which a child requires, but they make the caring possible by loved and loving adults. We argue that the law must provide the best possible framework to allow adequate caring by members of the non-legal professions, such as social workers and foster parents. At the same time the law must ensure that the rights of parents and children are protected.

Child↗
PubMed1982

Three distinct types of X-linked arthrogryposis seen in 6 families.

Six families with arthrogryposis (congenital contractures) inherited in an X-linked recessive manner are reported. Family histories from a study of over 350 patients with congenital contractures of the joints (arthrogryposis) were reviewed and of these, three probands had family histories consistent with X-linked recessive inheritance. Three other families were recognized through correspondence. Three forms of X-linked recessively inherited arthrogryposis are described: (1) Severe lethal X-linked arthrogryposis with severe contractures scoliosis deformities, hypotonia, and death due to respiratory insufficiency within 3 months of birth (1 family); (2) Moderately severe X-linked arthrogryposis with severe contractures, ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence (2 families); and (3) Resolving X-linked arthrogryposis with mild to moderate contractures at birth which improve dramatically with time (2 families and 1 sporadic case).

Arthrogryposis↗
PubMed1982

Familial reciprocal translocation, t(2;10)(p24;q26), resulting in duplication 2p and delection 10q.

We describe a familial reciprocal translocation between the distal part of the short arm of chromosome 2 and the long arm of chromosome 10. Five individuals in two generations had multiple congenital anomalies. Their karyotypes were 46,XX or XY, -10, + der(10), t(2;10)(p24;q26). Seven persons were balanced translocation carriers whose karyotypes were 46,XX or XY,t(2;10)(p24;q26). Common manifestations included mental retardation, strabismus, narrow high-arched palate, wide alveolar ridges, other facial abnormalities, genital abnormalities and mutism. The phenotype of the unbalanced individuals is compared to that of previously published cases of the syndrome of partial duplication 2p and to reported patients with partial deletion of 10q.

Abnormalities, Multiple↗
PubMed1982

IgA antibodies in the bile of rats. I. Some characteristics of the primary response.

About a week after suspensions of sheep red blood cells (SRBC) or killed Brucella abortus organisms were injected into the Peyer's patches of Wistar rats specific agglutinins of the IgA class appeared in the bile of titres which equalled or exceeded those of the IgG and IgM agglutinins in the blood serum. The injection of these antigens by conventional routes was relatively ineffective in inducing biliary antibodies. The relationship between the dose of B. abortus injected into the Peyer's patches and ensuing humoral response in the bile was investigated; a single dose of 5x10(5) organisms caused no detectable biliary response, while a dose of 10(9) organisms caused a substantial response in which specific antibodies persisted in the bile for several months, even though immunogenic material could not be recovered from the injection sites (the Peyer's patches) after a few weeks. A haemolytic plaque assay showed that many antibody-forming cells occurred in the mesenteric nodes and that up to half of them were synthesizing IgA. Few antibody-forming cells were found in Peyer's patches, and although some IgA-forming cells were found in the spleen they were less numerous, both in absolute terms and relative to cells producing other isotypes, than in the mesenteric nodes. The active production of biliary antibody was transferred to unimmunized recipients by thoracic duct lymph cells collected a few days after immunization of the donors when their lymph contained an increased percentage of immunoblasts. Athymic (nude) rats produced normal amounts of specific, biliary, IgA antibodies after immunization in the Peyer's patches with B. abortus but made no detectable response to similar injections of SRBC.

Animals↗
PubMed1982

IgA antibodies in the bile of rats. II. Evidence for immunological memory in secretory immunity.

The Peyer's patches of Wistar rats were injected with suspensions of either sheep red blood cells (SRBC) or killed Brucella abortus organisms in doses that were insufficient to induce the appearance of biliary antibodies. The rats were challenged after periods ranging from 1 week to 1 year with the same dose of antigen given by the same route, and their bile was monitored for the appearance of specific antibodies. The test animals produced biliary antibodies to a much higher titre, and usually more rapidly, than control rats which had received the total dose of antigen as a single injection. As in primary responses, the biliary antibodies produced by challenging the primed rats were predominantly from the IgA class. The ability to mount substantial biliary responses to suboptimal doses of antigen could be transferred from primed donor rats to unimmunized recipients by thoracic duct lymphocytes, but not humoral factors, collected between 3 weeks and 5 months after priming. Gamma-irradiation of the lymphocytes abolished this effect. These results suggest strongly that immunological memory exists in the IgA system and that it is mediated by circulating lymphocytes.

Animals↗
PubMed1981

Medullary raphé lesions do not reduce descending inhibition of dorsal horn neurones of the cat.

In anaesthetized cats spinal cold block was used to examine the effects of medullary raphé lesions on the responses of dorsal horn neurones to impulses in unmyelinated primary afferents. Lesions failed to affect these responses, casting doubt on the importance of this region and its serotonergic spinal projections to the control of nociceptive transmission at the spinal level.

Afferent Pathways↗
PubMed1981

Kaufman syndrome.

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMed1981

Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring.

The use of elongated prophase and prometaphase chromosome preparations has allowed detection of an insertion of a small segment of 3q into 11q in a kindred with 4 balanced carriers and 8 unbalanced offspring. Those with partial 3q deletion have a true multiple congenital anomalies/mental retardation (MCA/MR) syndrome with an appearance suggestive of the Schwartz-Jampel syndrome.

Abnormalities, Multiple↗
PubMed1981

Prometaphase chromosomes in five patients with the Brachmann-de Lange syndrome.

We analyzed the prometaphase chromosomes of 5 patients (including one pair of sibs) with the Brachmann-de Lange syndrome (BDLS), and did not find a significant chromosome abnormality in any of them. It appears that two distinct entities can be distinguished on clinical and chromosomal bases; the BDLS and the dup(3q) syndrome. We still recommend chromosome studies in any patients with BDLS and BDLS-like manifestations.

Child↗
PubMed1981

Evidence for the presence of an additional allele in the F system of British Friesian cattle blood.

The antithetical relationship of the F and V alleles in British Friesian cattle was found to be imperfect. The presence of another allele was inferred. It was suspected of being native to the British Isles. Parentage records that contravened the assumption that F + V -- and F--V + animals were homozygous were not necessarily erroneous. Black and white cattle in the Netherlands have received semen from a bull carrying the allele.

Alleles↗