The diagnosis of congenital renal anomalies with ultrasound. II. Infantile polycystic kidney disease.

Infantile polycystic kidney disease in an autosomal recessive disorder which in its severe form is characterized by bilateral renal enlargement and renal failure. The present study was undertaken to assess the diagnostic accuracy of antenatal sonography in a population at risk. Nineteen patients with fetuses at risk for infantile polycystic kidney disease were referred for ultrasound examination to the Perinatal Unit at Yale-New Haven Hospital.

Use of glycosylated hemoglobin as a screen for macrosomia in gestational diabetes.

Glycosylated hemoglobin and blood sugar levels in the fasting state and two hours after oral 100 g glucose load were measured in 180 patients. Glycosylated hemoglobin was measured by cation exchange column chromatography, and blood sugar was measured by hexokinase reaction. Patients with an elevated postprandial and/or fasting blood sugar level (positive screen) subsequently underwent three-hour glucose tolerance test.

Amniotic fluid arborization: effect of blood, meconium, and pH alterations.

The effects of blood and meconium at various dilutions and pH alterations on the fern test were evaluated in an in vitro study. Thirty-six specimens of amniotic fluid across gestational ages (16 to 42 weeks) were tested. The fern test was unaffected by meconium at any concentration and by blood at dilutions of 1:10 or greater.

Chronic renal failure and severe diabetic vasculopathy in pregnancy.

The prospect of successful gestational outcome in pregnancies complicated by chronic renal insufficiency, severe hypertension, and diabetic vasculopathy is generally considered poor. This article describes a pregnancy with these complications in which a conservative form of management was utilized and resulted in a successful gestational outcome.

Haemolytic anaemia in previously healthy adult patients with CMV infections: report of two cases and an evaluation of subclinical haemolysis in CMV mononucleosis.

Whereas haemolytic anaemia is commonly encountered in infants and young children with cytomegalovirus (CMV) infections, it is an infrequent complication of CMV-induced infections in previously healthy adults. The data from 2 such patients are presented. One patient's Hb fell to a level of 36 g/l, and she required prednisone and blood transfusions.

Fetal-neonatal uremia in advanced maternal diabetes.

A symmetrically growth retarded premature infant was born to a mother with advanced diabetic nephropathy, chronic renal failure, and hypertension, and managed with aggressive medical therapy without the use of dialysis. The neonatal course was uncomplicated, except for cord blood creatinine and BUN concentrations of 4.7 mg/dl and 116 mg/dl, respectively, that fell to 1.

The perinatal management of pregnancy complicated by massive intracerebral hemorrhage.

A pregnancy complicated by massive intracerebral hemorrhage with resultant maternal and fetal problems is presented. Aggressive maternal care, fetal surveillance, and perinatal management resulted in a successful outcome.

Spontaneous factor XI inhibitors. Seven additional cases and a review of the literature.

Circulating anticoagulants are endogenous blood components that inhibit the action of clotting factors. In some inhibitor conditions this inactivation in the function of the hemostatic system may lead to life-threatening hemorrhagic diathesis. Inhibitors directed against factor XI are generally associated with little or no impairment of the hemostatic system.

Glycosylated hemoglobin (HbA1) and hemoglobinopathies in pregnancy.

Glycosylated hemoglobin (HbA1) is considered to be representative of prior blood-glucose levels and is being used in pregnant and nonpregnant diabetic patients as a possible index of both long and short-term glucose-control. Factors other than blood-glucose concentration have been reported to affect its value. Variant hemoglobin is one of them.

Coagulopathy associated with factor VIII inhibitor. A literature review.

Coagulopathy associated with factor VIII inhibitor is a potentially serious medical condition that may mimic the hemostatic failure seen in hemophilia A. This disorder may be detected first during pregnancy or the postpartum period and may cause life-threatening hemorrhagic diathesis. Thirty-three cases of coagulopathy associated with factor VIII inhibitor in the peripartum period have been reported.

Combined intrauterine and extrauterine gestations: a review.

In a review of the world's literature on combined intrauterine and extrauterine pregnancies, 589 cases, including five cases currently reported from the Sloane Hospital for Women, were documented. Analysis of the literature revealed abdominal pain to be the most frequent presenting symptom. A combination of signs and symptoms, including abdominal pain, adnexal mass, peritoneal irritation, and an enlarged uterus, was the most significant finding in support of a presumptive diagnosis of combined gestations.

Significance of a (4;11) translocation in acute lymphoblastic leukemia.

This report describes a case of null cell congenital acute lymphoblastic leukemia associated with a (4;11) translocation. This chromosome abnormality is associated with acute lymphoblastic leukemia and probably more specifically with congenital acute lymphoblastic leukemia. A review of the literature is presented.

A successful gestational outcome in the presence of genitourinary abnormalities and severe medical complications of pregnancy.

Müllerian duct dysgenesis may result in various genitourinary abnormalities and a high incidence of associated gestational losses. The bicornuate uterus (with either one or two cervices) and a single vagina are the most common genital variations, whereas an ectopic pelvic kidney and unilateral renal agenesis are the most common associated renal malformations. Inspite of the high incidence of fetal wastage resulting from pregnancies associated with congenital uterine abnormalities, aggressive perinatal and neonatal therapy may improve the gestational outcome.

Congenital uterovesical fistula.

An example of congenital uterovesical fistula is presented. The cardinal diagnostic feature is monthly painless macroscopic hematuria with onset at menarche. It is possible that a delay in prompt diagnosis and corrective surgery may lead to undesired consequences.

Colonic pseudo-obstruction following obstetrical surgery. A review.

Colonic pseudo-obstruction denotes an apparent intestinal obstruction occurring in the absence of a demonstrable lesion or luminal occlusion. This syndrome is distinct from adynamic ileus, and parturition accounts for a major category of reported cases. The purpose of this paper is to 1) review the literature on the subject, 2) emphasize the severity of this condition and the need for early diagnosis and prompt management and, 3) to outline guidelines for the improved management of this disorder.

Epstein-Barr virus in a malignant lymphoproliferative disorder of B-cells occurring after thymic epithelial transplantation for combined immunodeficiency.

A fatal disseminated polyclonal malignant lymphoproliferative disorder of B-cells (immunoblastic sarcoma) developed shortly after a second thymic epithelial peritoneal implant in a 5-yr-old girl with combined immunodeficiency. The immunodeficiency was characterized by low T-cell numbers and function, very low levels of thymic hormone, dysgammaglobulinemia, and an inability to mount a primary antibody or cell-mediated response to new antigens. At necropsy, the thymus fulfilled morphological criteria for thymic dysplasia.

Epstein-Barr virus antibodies in patients with ataxia-telangiectasia and other immunodeficiency diseases.

An unusual antibody response to the Epstein-Barr virus (EBV) has been noted in patients with ataxia-telangiectasia. Of a group of 16 such patients 8 were found to have antibodies in their serum to the EBV viral capsid antigen (VCA), and 4 of them also had antibodies to the EBV early antigen (EA); antibodies to the nuclear antigen (EBNA), however, were absent in 3 of the 8. The antibody pattern persisted for more than 2 years in the patients available for follow-up study.