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Biomedical subjects

V J Baldwin

Publications and source records attributed to V J Baldwin.

At least 19 recordsLinked to original sources
PubMed1995

Molecular diagnostic tests for ascertainment of genotype at the rod cone dysplasia 1 (rcd1) locus in Irish setters.

Rod-cone dysplasia type 1 (rcd1) is one of several canine photoreceptor degenerations, collectively termed progressive retinal atrophy (PRA), that afflict different breeds of dogs. The rcd1 phenotype is an early onset autosomal recessive disease caused by a nonsense amber mutation, at codon 807, in the canine gene for the beta-subunit of rod cyclic GMP phosphodiesterase (canine PDEB). The mutation involves a G to A transition at nucleotide position 2420, which presumably would cause premature termination of the canine PDEB protein by 49 amino acid residues. In both a small pedigree study of Irish setters from the United Kingdom and in larger canine pedigree studies in the United States, this gene defect has been found to be the only mutation causing rcd1. Here we report development of a diagnostic test which unequivocally distinguishes the three genotypes at the rcd1 locus: rcd1/rcd1 (homozygous mutant, affected); rcd1/+ (heterozygous, carrier); and +/+ (homozygous normal, wildtype).

3',5'-Cyclic-GMP Phosphodiesterases↗
PubMed1992

Necrotizing funisitis.

Necrotizing funisitis is an umbilical cord lesion characterized by perivascular bands of necrotic Wharton jelly containing inflammatory cells in various stages of degeneration. Sixty cases were reviewed histologically. Clinical information was available in 45. Forty-five age-matched infants with acute (nonspecific) funisitis only were used as controls. Infants with necrotizing funisitis had more stillbirths, birth weights below the tenth percentile (small for gestational age [SGA]), infectious complications, and necrotizing enterocolitis. No consistent infectious agents or predisposing maternal factors were found. Cord neovascularization correlated with SGA infants. Necrotizing funisitis occurred in 0.1% of deliveries greater than 20 weeks' gestation. The perivascular bands, likened to the pattern of an Ouchterlony diffusion plate, suggest the presence of a diffusible toxin in the amniotic fluid. The stillbirths and SGA infants may represent the toxin's effect on the fetus. The lack of perivascular necrotic bands around vessels on the placental surface suggests neutralization or more effective clearing of the agent in this region, for reasons as yet undetermined. The factors underlying the cord lesion may contribute to superimposed acute nonspecific vasculitis and chorioamnionitis.

Acute Disease↗
PubMed1991

Umbilical cord ulceration and intestinal atresia: a new association?

In three fetuses, congenital intestinal atresia was associated with linear ulcerations of the umbilical cord. In two cases, hemorrhage was seen from the cord ulcer. Both fetuses required emergency cesarean section for fetal distress and were born anemic. The third fetus was mildly hydropic, attributed to hemorrhage, and was stillborn. The mechanism of the association could not be determined. These cases suggest a risk of prenatal umbilical cord hemorrhage in infants with intestinal atresia.

Adult↗
PubMed1990

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome.

We report on 2 patients who were apparently normal at birth but later developed characteristics of Wiedemann-Beckwith syndrome (WBS). Both had hypoglycemia neonatally and gradually developed coarse facial changes, umbilical hernia, and macroglossia. Renal sonography done after the macroglossia developed showed large kidneys in both. The placentas were carefully examined in both cases but findings described as typical of WBS were only found in one. The clinical evolution of these infants suggests that some WBS manifestations may have their onset postnatally in some cases. We postulate that the cellular hyperplasia and hypertrophy characteristic of WBS may be caused by persistent rests of embryonal cells that secrete paracrine and/or endocrine growth factors.

Beckwith-Wiedemann Syndrome↗
PubMed1990

Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs.

A brother and a sister presented with a malformation syndrome consisting of facial anomalies, distal arthrogryposis with camptodactyly of fingers and "hammer toes," severe mental retardation, and hypopituitarism. The girl is now 6 1/2 years old and exhibits severe mental retardation. She has abnormal secretion of growth hormone and responded to growth hormone therapy. Her brother was born with the same facial manifestations, distal contractures, and hypopituitarism. He died unexpectedly at age 3 months of no apparent cause. The occurrence of the syndrome in 2 sibs of different sex suggests autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1990

Pathology of intragestational intervention in twin-to-twin transfusion syndrome.

Selective intervention in multiple pregnancy is being used to enhance the chances of survival of at least one conceptus when the risks for the combined conceptuses and mother are considered too great. These procedures have been applied to induced polyembryonic conceptions (selective continuance) and discordant dichorionic twins (selective birth). We report attempts at selective intervention in three monochorionic twin gestations affected by twin-to-twin transfusion syndrome. In all three cases, both fetuses seemed doomed and the mother was in significant distress. The selected survivor in the first case is doing well; both twins were stillborn in the second case; in the third case, the selected survivor died as a neonate but the other twin survived and is doing well. We suggest possible explanations for the clinical outcome of each case based on detailed pathologic examination of the delivered placentas and autopsy examination of the nonsurviving twins. The shared chorionic circulation is the source of both the clinical disorder and the potential complications of any attempt to alleviate the disorder. This situation is unique to monochorionic twins, and we discuss the implications of this for intrauterine therapy of twin-to-twin transfusion syndrome.

Abortion, Induced↗
PubMed1988

Management of quintuplet pregnancy by selective embryocide.

Selective embryocide was performed as a two-stage procedure in a patient with a quintuplet pregnancy in the first trimester. No complications occurred, and the patient was delivered of healthy twins at term. This procedure may be offered to selected patients with pregnancies with greater than five embryos.

Abortion, Induced↗
PubMed1987

Morquio disease presenting as hydrops fetalis and enzyme analysis of chorionic villus tissue in a subsequent pregnancy.

We describe the prenatal diagnosis of a fetus at risk for mucopolysaccharidosis (MPS) Type IVA (Morquio syndrome) using enzyme analysis of chorionic villus tissue. The family had two previous affected children, one with progressive nonimmune hydrops fetalis presenting at 16 weeks gestation and one mildly affected 5 year old. The parents had decreased levels of N-acetyl galactosamine-6-sulphate sulphatase in cultured skin fibroblasts indicating that carrier detection is possible for Morquio A syndrome.

Adult↗
PubMed1987

Transplacental hemorrhage associated with placental neoplasms.

We report a case of choriocarcinoma in situ arising from a term placenta in an otherwise normal pregnancy that resulted in fetal hydrops and intrauterine fetal death from chronic fetal-maternal hemorrhage (FMH). The clinical and pathologic features are described and compared with the few similar cases reported and with an additional placental choriocarcinoma found in our files. We also describe the clinical and pathologic observations of two chorangiomas that caused massive FMH and led to fetal death.

Adult↗
PubMed1986

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia.

A brother and sister from consecutive pregnancies had rigid and tightly adherent skin in association with generalized contractures, unusual facies, pulmonary hypoplasia, an abnormal placenta, and a short umbilical cord. Both died shortly after birth. Pathologic examination of the skin by light and electron microscopy showed structural abnormalities of the epidermis, dermis, and subcutaneous fat. An abnormal pattern of keratin proteins was determined biochemically using extracted epidermal proteins. Autopsy showed a normal spinal cord and muscle histology. It is postulated that the defective skin severely restricted movement and secondarily led to the other abnormalities. Familial occurrence is most consistent with autosomal recessive transmission. These patients and the primary skin defect are discussed within the framework of the Fetal Akinesia or Hypokinesia Deformation Sequence.

Abnormalities, Multiple↗
PubMed1986

The role of feticide in the management of severe twin transfusion syndrome.

Twin transfusion syndrome is a serious complication of monozygotic twin pregnancy. Diagnostic ultrasound now allows early diagnosis of this condition, but therapy has remained more elusive. In this article we present a case of severe twin transfusion syndrome diagnosed early in the second trimester. At 25 weeks' gestation, severe hydramnios, premature labor, and growth retardation of the donor twin suggested that selective feticide be contemplated to allow continuation of the pregnancy for the remaining twin. This was accomplished successfully by an in utero approach with subsequent follow-up and delivery of a healthy female infant at 37 weeks' gestation. Discussion of diagnosis, management, follow-up, and pathologic features is provided.

Adult↗
PubMed1984

Delayed interval delivery in triplet pregnancy: report of a single case and review of the literature.

A case report of delayed delivery of 99 days in a triplet pregnancy is presented. A triplet pregnancy in a single uterus resulted from Pergonal stimulation of ovulation. At 23.5 weeks' gestation, the first triplet delivered after spontaneous rupture of membranes. Ninety-nine days later, the remaining two fetuses were delivered, the second one stillborn after intrauterine death at 37 weeks of gestation, and the third fetus a normal viable female consistent with 37.5 weeks' gestation. This is the longest interval of delayed delivery discovered from a literature review, and the only such instance of triplet pregnancy in a single uterus.

Adult↗
PubMed1982

Morphologic pathology of fetomaternal interaction.

The thorough and interested pathologic examination of the placenta may explain events during pregnancy, give evidence of perinatal complications, document patterns of twinning, raise suspicions regarding fetal anomalies or explain the source of perinatal diseases, anomalies or growth retardation. The findings ascertained by such examinations may be particularly significant in the neonatal management of the sick infant and genetic counselling of a family delivered of an abnormal fetus. There are many instances where lesions are seen in the placenta without apparent explanation or where the clinical situation would suggest severe placental pathology but none is identified. These frustrating situations may yield in the future to closer clinical pathological correlation and more sophisticated analyses as long as these are undertaken in the context of the two individuals reacting through the placenta.

Abnormalities, Drug-Induced↗