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Biomedical subjects

K L Jones

Publications and source records attributed to K L Jones.

At least 19 recordsLinked to original sources
PubMed1992

Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex.

The association of sternal fusion defects with various cardiac, diaphragmatic, and anterior body wall defects represents a developmental field complex that includes the Pentalogy of Cantrell and ectopia cordis. No familial cases have been reported previously. We present 3 consecutively born brothers with extensive diaphragmatic defects, 2 who had the Pentalogy of Cantrell. One of the 2 also had ectopia cordis.

Adult↗
PubMed1992

Congenital absence of the vas deferens: recurrence in a family.

We report on 2 brothers with congenital absence of the vas deferens discovered in childhood during inguinal hernia repairs. The vas is absent unilaterally in one sib and bilaterally in the other. The unusual presentation of inguinal hernias in these children is discussed as well as mechanisms of inheritance and associated risk of renal anomalies.

Child, Preschool↗
PubMed1992

Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia.

Mandibuloacral dysplasia (MAD) is a syndrome with onset in midchildhood. The predominant characteristics of MAD include flexion contractures; mandibular hypoplasia; loss of body fat; atrophic, speckled skin; and progressive osteolysis of the clavicles. We studied three males with MAD. Each had lipodystrophy of the extremities, with sparing of the face and neck. All had moderate hyperlipidemia. In response to oral glucose, each had a diabetic response, with peak insulin levels between 2870 and 22,960 pmol/L. Insulin-stimulated glucose disposal was determined in two patients with MAD. At an insulin infusion rate of 120 mU/m2 per minute, glucose disposal was less than 25% of that measured at similar levels of insulinemia in nondiabetic control subjects, indicating marked insulin resistance in patients with MAD. The insulin resistance occurred without obesity, excessive levels of counterregulatory hormones, or anti-insulin-receptor antibodies. We suggest that MAD is a previously undescribed form of lipodystrophic insulin-resistant diabetes mellitus.

Abnormalities, Multiple↗
PubMed1992

Male pseudohermaphroditism resulting from 17 alpha-monooxygenase (P-450C17) deficiency in two unrelated Guamanians.

OBJECTIVE: To report the cases of and to describe two unrelated Guamanian patients with an unusual form of congenital adrenal hyperplasia resulting from 17 alpha-monooxygenase deficiency (P-450C17). DESIGN: Patient series. SETTING: Referral center. PATIENTS: Two phenotypic females of Guamanian descent, unrelated, and referred for evaluation of hypertension and delayed sexual development. INTERVENTIONS: Diagnosis by measurement of specific adrenocortical precursors and initiation of therapy with dexamethasone. Documentation of response by decrease in circulating concentrations of metabolites and decrease in blood pressure. CONCLUSIONS: The finding of a rare autosomal recessive disorder in two unrelated persons from a small genetic pool in Guam suggests that this may result from the same molecular defect and may be present in this population at an unexpectedly high incidence. Lack of suspicion frequently leads to unnecessary delay in diagnosis of this condition.

Adolescent↗
PubMed1992

End-stage renal disease and primary hypogonadism associated with a 46,XX karyotype.

OBJECTIVE: To determine the cause of absent sexual development in a 17-year-old girl with end-stage renal disease. DESIGN: Case study. PARTICIPANT: Seventeen-year-old girl with end-stage renal failure. INTERVENTIONS: None. MEASUREMENTS/MAIN RESULTS: The patient had phenotypically normal external female genitalia, müllerian duct hypoplasia, and no ovaries. Her serum gonadotropin levels were in the castrate range at baseline and after gonadotropin-releasing hormone stimulation. Her karyotype, in lymphocytes and cultured fibroblasts, was 46,XX. Analysis of genomic DNA, following polymerase chain reaction-amplication with oligonucleotide primers corresponding to the Y-encoded zinc finger protein ZFY and the testis-determining SRY gene, showed Y chromosome material in a male control but none in the patient. CONCLUSIONS: The results suggest a diagnosis of Frasier syndrome, a disorder characterized by true gonadal dysgenesis and end-stage renal disease occurring in normal phenotypic girls. Although previously reported only in individuals with a 46,XX karyotype, our studies indicate that Frasier syndrome may also occur in 46,XX girls. Delayed puberty is not uncommon in renal failure. This case illustrates the importance of measuring gonadotropin levels in teenage girls with delayed puberty and renal failure, particularly if the origin of the renal disease is obscure.

Adolescent↗
PubMed1992

Effect of ACE inhibition on the fetal kidney: decreased renal blood flow.

The kidneys of nine fetuses whose mothers were chronically hypertensive were examined microscopically. Three of these mothers used antihypertensive agents throughout pregnancy including one who used an angiotensin-converting enzyme (ACE) inhibitor. The tubular defects found in these kidneys were compared to the kidneys of 20 normal controls, 13 fetuses with various multiple malformation syndromes and six cases of the twin to twin transfusion syndrome. Evidence from these cases as well as the literature suggest that the primary mechanism by which ACE inhibitors affect development of the fetal kidney is through decreased renal blood flow.

Abnormalities, Drug-Induced↗
PubMed1992

Localization and binding of transforming growth factor-beta isoforms in mouse preimplantation embryos and in delayed and activated blastocysts.

The stage and cell-specific accumulation of mammalian isoforms of transforming growth factor-beta (TGF-beta 1, TGF-beta 2, and TGF-beta 3) and TGF-beta binding were examined in the preimplantation embryo and in progesterone (P4)-treated delayed or P4 plus estradiol-17 beta (E2)-treated activated blastocysts in the mouse. Immunocytochemical studies revealed that while all three immunoreactive TGF-beta isoforms were present in one-cell embryos, very little or no immunostaining was observed in two-cell embryos. However, distinct immunostaining of these isoforms was again observed in four-cell embryos and persisted through the blastocyst stage. Among the isoforms studied, TGF-beta 2 immunostaining showed a unique pattern in late morulae. In many of these morulae, the staining was primarily observed in outside cells. However, in blastocysts, immunostaining for all three isoforms was present both in the inner cell mass (ICM) and trophectoderm (Tr). Immunostaining in sectioned blastocysts and immunosurgically isolated ICMs confirmed immunostaining in Tr and ICM cells. To ascertain whether preimplantation embryos can produce TGF-beta isoforms, immunostaining was performed in embryos grown in vitro from two-cell stage in simple balanced salt solution. Immunoreactive TGF-beta s 1-3 were present in embryos at all stages of development examined (four-cell embryos through blastocysts). The virtual absence of immunoactive TGF-beta s in two-cell embryos but their accumulation in embryos at later stages of development in vitro provides evidence that these growth factors were produced by embryos. In order to assess at what stages of development preimplantation embryos could be responsive to TGF-beta s, specific binding of [125I]TGF-beta 1 and [125I]TGF-beta 2 was performed in embryos and examined by autoradiography. Low levels of binding were first detected in eight-cell embryos. The binding increased in morulae followed by a further increase in blastocysts. Analysis of binding of [125I]TGF-beta 2 in immunosurgically isolated ICMs indicated that binding was primarily evident in Tr cells. Affinity labeling of TGF-beta 1 or TGF-beta 2 in Day 4 blastocysts revealed three classes of binding proteins with approximate molecular sizes of 65 kDa (type I), 90 kDa (type II), and greater than 250 kDa (type III), in addition to a doublet of 130 and 140 kDa proteins. This observation is similar to those reported for other cell types. The data suggest that embryos are likely to be responsive to TGF-beta s after the third cleavage.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗
PubMed1992

Necrosis of the ileum in a diabetic adolescent.

A 17-year-old boy with insulin-dependent diabetes mellitus developed ketoacidosis and transitory shock. After resolution of his metabolic imbalance, he developed an acute abdomen prompting exploratory surgery. A section of necrotic ileum was found and resected.

Abdominal Pain↗
PubMed1992

Chediak-Higashi lymphoblastoid cell lines: granule characteristics and expression of lysosome-associated membrane proteins.

Chediak-Higashi syndrome (CHS) is characterized morphologically by the presence of giant lysosomal granules resulting from the dysregulated fusion of primary lysosomes. Lysosome-associated membrane proteins comprise a family of highly glycosylated proteins which are postulated to facilitate many aspects of normal lysosomal function. In this study, Epstein-Barr virus-transformed lymphoblastoid cell lines derived from a patient with CHS were analyzed for the presence of giant granules and the expression of the lysosome-associated membrane proteins lamp1 and lamp2. Giant myeloperoxidase positive granules typical of CHS, which had a complex structure when examined by electron microscopy, could be demonstrated in the lymphoblastoid cell lines. In situ immunofluorescence with antibodies directed against lamp1 and lamp2 demonstrated abundant expression of each of these proteins in the giant CHS granules. Lack of expression of lysosomal cathepsin G in these granules was also noted. These observations suggest that the lymphoblastoid cell lines provide a convenient model for the study of Chediak-Higashi granules and the lysosome-associated membrane proteins and provide additional evidence that CHS is a "lysosomal" disease. Further study will be necessary to delineate whether the function of these membrane proteins is altered in Chediak-Higashi syndrome.

Antigens, CD↗
PubMed1992

Fetal alcohol syndrome: a case report of neuropsychological, MRI and EEG assessment of two children.

Neuropsychological, neuroanatomical, and electrophysiological data are presented on two subjects with fetal alcohol syndrome (FAS). Both boys had intelligence quotients in the mentally deficient range and were found to have several other severe, specific deficits. Magnetic resonance imaging showed abnormalities of the corpus callosum, and reductions in the size of the basal ganglia and thalamic structures. No focal abnormalities were noted in the electroencephalogram records, although the electroencephalograms of both boys were moderately abnormal for their age group. A multidisciplinary approach to the study of FAS, hopefully will lead to a more unified concept of the disorder and perhaps indicate specific areas of vulnerability.

Adolescent↗
PubMed1992

The Vater association and spinal dysraphia.

We here present a hereto previously undescribed association of occult spinal disorders of the distal spinal cord/filum in the Vater association. We present 6 patients who were diagnosed as having the Vater association who subsequently presented with occult spinal disorders, primarily lipomas of the filum/conus complex with or without subcutaneous lipomas. Uniformly the spinal cord was tethered to the lipoma/filum complex. Progressive neurological dysfunction was noted in those in whom the diagnosis was made late in the disease. The importance of neuroimaging of the distal spinal canal, in children in whom the diagnosis of the Vater association has been made, is emphasized to prevent insidious neurological damage if not already present.

Abnormalities, Multiple↗
PubMed1992

Sonographic evaluation of pregnancies with maternal varicella infection.

We reviewed 37 cases of mothers who had varicella-zoster virus (VZV) infection during early pregnancy, who subsequently underwent fetal sonography in the 13th to 37th week of gestation. Of the five infants later shown to have congenital varicella infection at postnatal examination (1 case) or autopsy (4 cases), all showed ultrasonographic abnormalities suggesting infection, and all died by 4 months of age. None of the 32 unaffected infants demonstrated in utero ultrasonographic abnormalities. No statements about relative risk of being affected by the virus can be made from this data.

Chickenpox↗
PubMed1991

Delineation of the Costello syndrome.

We present a 15-year-old girl with mental retardation, short stature, coarse face, unusually thick, loose skin of the hands and feet, deep plantar and palmar creases, and nasal papillomata. Her history and physical findings are compared to those of 2 children initially reported by Costello and to 1 child recently reported by Der Kaloustian et al.

Adolescent↗
PubMed1991

Identification of high affinity endothelin-1 receptor subtypes in human tissues.

Two subtypes of the high affinity endothelin-1 (ET-1) receptor were identified in human tissue, and were distinguished by their differential affinities for sarafotoxin S6c (S6c). Uterus contains mostly the ETA subtype, with low affinity for S6c (Ki greater than 7300 nM), while the predominant subtype in hippocampus is ETB, with high affinity for S6c (Ki = 0.25 nM). These subtypes also have different affinities for [Ala1,3,11,15]-ET-1, which was found to be ETB selective. The two subtypes distinguished by these ligands in human tissue correspond to the subtypes previously identified in rat. Differential stimulation of phosphatidyl inositol turnover in rat tissue slices by ET-1 and S6c indicates that both ETA and ETB subtypes represent functional receptors.

Animals↗
PubMed1991

Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency.

Steroid 17 alpha-hydroxylase deficiency is caused by defects in cytochrome P450c17, the single enzyme that has 17-alpha hydroxylase and 17,20-lyase activities. We describe a rapid and efficient polymerase chain reaction tactic for identifying these genetic lesions and identify Ser106----Pro as the cause of 17 alpha-hydroxylase deficiency in two unrelated homozygous patients from Guam. We used site-directed mutagenesis of the normal P450c17 cDNA to construct the Pro106 mutant, and expressed both the normal and mutant sequences in monkey COS-1 cells and in yeast. Expression of the normal sequence permitted the cells to convert pregnenolone to 17-OH pregnenolone, progesterone to 17-OH progesterone, and 17-OH pregnenolone to dehydroepiandrosterone, showing the normal sequence conferred both 17 alpha-hydroxylase and 17,20-lyase activities. Expression of the mutant sequence generated P450c17 mRNA, but conferred none of these activities, proving that the Ser106----Pro mutation abolished the 17 alpha-hydroxylase and 17,20-lyase activities. An HhaI restriction site created by the mutation should permit screening of large populations.

Adolescent↗
PubMed1979

The 'breech head' and its relevance.

Eight infants had scaphocephaly with prominent occipital shelving. This abnormal head shape is identified as a postural deformation associated with breech intrauterine position, and it is noted to resolve during infancy with no apparent residual impairment in most cases. At the same time, the "breech head," as we have designated this unusual head form, may occur in the setting of a primary problem in fetal morphogenesis, and it may be itself a factor contributing to birth injury during vaginal delivery of the breech infant.

Breech Presentation↗
PubMed1979

The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects.

Seventy-nine patients with the amniotic band disruption complex, including 54 infants with multiple system involvement and 25 with affected limbs alone, were evaluated. No two cases of the disorder were exactly alike. Defects varied from simple digital band constrictions to major craniofacial and visceral defects; fetal death may also occur. Amniotic rupture appeared to cause injury through three basic mechanisms: (1) interruption of normal morphogenesis; (2) crowing of fetal parts; and (3) disruption of previously differentiated structure. Comparison of 35 cases in which the timing of amniotic rupture could be estimated suggests that early amniotic rupture results in multiply affected infants who are frequently aborted or stillborn, whereas later rupture results primarily in limb involvement. Our findings indicate that both the spectrum of the developmental pathology and the nature of fetal outcome are determined by the timing of amniotic rupture. Appreciation of the mechanism which explains the disparate appearances of infants with the amniotic band disruption complex will allow more acurate diagnosis and appropriate counseling with respect to the sporadic nature of the disorder.

Abnormalities, Multiple↗