Coincident DiGeorge anomaly and renal agenesis and its relation to maternal diabetes

We describe 2 cases of DiGeorge anomaly with bilateral renal agenesis-one, who also had hemivertebrae, in an infant of an insulin-dependent diabetic mother (IDDM). In a review we identified 2 other instances of this combination, both in IDDMs. The currently accepted notion that DiGeorge anomaly and renal agenesis are developmental field defects, coupled with their coincidence in IDDM, suggests that this combination is an association.     

Asymptomatic sacral agenesis with crossed renal ectopia

Ureteric obstruction complicating Crohn's disease of the terminal ileum is reported in three patients. This complication is treacherous, since symptoms of urinary tract disease are mostly absent, as is laboratory evidence of urinary tract infection. It is concluded that inflammatory ureteral engagement should always be suspected in patients with Crohn's disease, particularly when located in the terminal ileum. A preoperative intravenous pyelography should be included as a routine procedure in these patients. The detection of ureteral obstruction is a strong indication for early operative treatment of the disease. Ureterolysis combined with intestinal resection is recommended. The ureteral involvement, which is most likely a late phenomenon of the disease, could provably be avoided if surgical treatment is instituted at an earlier stage of the disease.     

Pharmacokinetics of cyclosporin A in 16 newborn infants of renal or cardiac transplant mothers

Fourteen renal transplant and one heart transplant mothers receiving cyclosporin (mean dosage: 273 +/- 19 mg/day) underwent a Caesarean section at a mean gestational age of 34.1 +/- 1.9 weeks. Circulating cyclosporin was assayed by HPLC. The mean blood levels in the mothers before the Caesarean section were 210 +/- 16 ng/ml, in cord blood 62 +/- 16 ng/ml (14 infants) and in the peripheral blood within 6 h of birth 31 +/- 12 ng/ml (15 infants); there was no correlation between maternal and cord levels, nor between peripheral blood levels at 2 h and cord blood levels. Cyclosporin levels were undetectable at day 3 in 12 infants, but low levels were found in 1 infant up to day 12. There was no toxic effect on the fetus or neonate.     

Evaluation of the urinary tract in children with renal agenesis

The condition of urinary tract in 24 children with kidney agenesia was estimated. 14 out of 24 children had additionally renal abnormalities or different renal diseases. It was detected that more than 50% of patients developed chronic failure of this single kidney, but renal function of normal single kidney remains many years correct.     

Splenic torsion in the presence of renal agenesis

A 14-year-old male with left renal agenesis presented with a history of intermittent abdominal pain for over 1 year. At laparotomy, the cause was found to be splenic torsion. The case is presented with a literature review. A theory of the cause is also presented based on the regional anatomy and embryology.     

Absorption of pteroylpolyglutamates in mothers of infants with neural tube defects

The ability to hydrolyse and absorb pteroylpolyglutamates (PteGlun) included in a standard meal in mothers who had given birth to an infant with a neural tube defect was tested by comparing them with mothers who had not had any infants with this defect. When compared with control mothers working in the research unit in which the study was performed, case mothers had significantly lower baseline serum and erythrocyte folate levels, and smaller increases in serum folate following the meal containing PteGlun. However, all estimates of folate were similar when case mothers were compared with a group of mothers who were friends of the case mothers. The results show that the higher the baseline levels of serum and erythrocyte folate the greater the increase in serum folate after the test meal. Fitting a model for the serum folate response curve resulted in coefficients which differed significantly between case mothers and all control mothers. We conclude that intestinal hydrolysis of PteGlun taken orally is not impaired in mothers who have had infants with neural tube defects when compared with control mothers with similar baseline folate levels, although the curves describing the response to the meal for the two groups do differ significantly. Further investigation is required to determine the mechanism underlying this difference.     

Three infants of diabetic mothers with malformations of left-right asymmetry--further evidence for the aetiological role of diabetes in this malformation spectrum

The contemporary literature has widely described the role of insufficiency of blood flow in glaucomatous damage. The paper presents the blood supply of the optic nerve head and the role of systemic and nocturnal hypotension, vasospasmus syndrome, carotide artery disease, location of the wathershed zone in relation to the optic disc and the effects of defective autoregulation of blood flow in glaucoma. The implications of vascular risk factors in glaucoma for its prognostics and management are discussed.     

Facial expressivity in infants of depressed mothers.

Examined facial expressions in 84 3-mo-old infants of mothers classified as depressed, nondepressed, or low scoring on the Beck Depression Inventory. Mother–infant dyads were videotaped during a 3-min face-to-face interaction, and the videotapes were coded by using the AFFEX facial expression coding system. Infants of both depressed and low-scoring mothers showed significantly more sadness and anger expressions and fewer interest expressions than infants of nondepressed mothers. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Increased incidence of sepsis at birth in neutropenic infants of mothers with preeclampsia

Neutropenia is often found at birth in infants born to mothers with preeclampsia, and is most likely present in utero. To determine whether this neutropenia is associated with an increased incidence of early-onset sepsis, we reviewed the hospital records of 301 low birth weight infants of mothers with preeclampsia. Early-onset sepsis was proved if the result of a culture of blood or cerebrospinal fluid in the first 48 hours of life was positive, or presumed if culture results were negative but two or more clinical signs of sepsis were present and the attending neonatologist believed that an infant was infected and needed at least 7 days of antibiotic therapy. Forty-eight percent of low birth weight infants of mothers with preeclampsia had neutropenia at less than 12 hours of age. Infants with neutropenia had mothers with more severe preeclampsia, were more premature (30 weeks vs 32 weeks), weighed less (1097 gm vs 1615 gm), and were more likely to be small for gestational age. Although maternal and obstetric risk factors for infection were less common in the group with neutropenia, rates of proven or presumed early-onset sepsis were higher (14% vs 2%; p < 0.001). Sepsis was proved in 6% of infants with neutropenia and in none of the infants without neutropenia (p = 0.03). A logistic regression analysis of the relative effects of birth weight, gestational age, and absolute neutrophil count on the incidence of sepsis revealed that only a low absolute neutrophil count correlated significantly with an increased risk of early-onset sepsis in infants with neutropenia.     

Neonatal polycythemia in appropriately grown infants of hypertensive mothers

Neonatal polycythemia is a frequent finding after pregnancies complicated by diabetes and by maternal hypertension with intrauterine growth retardation (IUGR). It is still unclear if the association of polycythemia with hypertension is the result of IUGR or of hypertension per se. To establish the incidence of neonatal polycythemia in populations at risk, we analyzed the results of hematocrit values obtained from 1592 neonates born consecutively at the Hospital de Clinicas, Buenos Aires. Capillary hematocrit values were obtained by heel stick before 6 h of age. When the values were 65% or greater, new samples were obtained from an antecubital vein. The risk of polycythemia in appropriately grown infants of hypertensive mothers was 12.6-fold greater than the risk in the general population. These data show that maternal hypertension poses a significant risk for polycythemia, regardless of fetal growth. We suggest that, to prevent possible sequela, hematocrit is measured routinely in all infants of hypertensive mothers for prompt diagnosis and treatment.     

EEG activation in 1-month-old infants of depressed mothers

Previous research has documented differences in the pattern of EEG activation between 3-month-old infants of depressed mothers and infants of nondepressed mothers. In the present study, EEG was recorded in even younger 1-month-old infants of depressed and nondepressed mothers. The infants of depressed mothers exhibited greater relative right frontal EEG asymmetry (due to reduced left frontal activation), and this pattern at 1 month was significantly related to 3-month EEG asymmetry. Right frontal EEG asymmetry was also related to more frequent negative facial expressions (sad and pre-cry faces) during the Brazelton exam. Finally, the infants of depressed mothers showed more indeterminate sleep, were less active, and cried less than infants of nondepressed mothers.     

EEG stability in infants/children of depressed mothers

The stability of EEG was examined in infants of depressed (BDI > 16) and non-depressed mothers (BDI < 9) from 3 months to 3 years. Of the 32 infants seen at 3 months, 15 were seen again at 3 years of age. Seven of the eight children who had exhibited right frontal EEG asymmetry as infants still showed that EEG asymmetry pattern at the 3 year visit. Children with right frontal EEG asymmetry at 3 years were observed to be more inhibited during an exploratory play task, and children of depressed versus non-depressed mothers were less empathetic during simulated maternal distress.     

Ureteric bud remnant in two patients with renal agenesis: diagnosis by MRI

The diagnosis of ureteral bud remnant associated with renal agenesis or dysplasia can be difficult. US and CT can be of limited value in these challenging congenital aberrations. When further evaluation is clinically required, MRI is recommended as a useful adjunct, as shown in the two cases discussed.     

Congenital malformations in infants of 517 pregestational diabetic mothers

PURPOSE: To explore a method of combined endovascular/conventional treatment of abdominal aortic aneurysm (AAA), in which the iliac arteries are reconstructed by conventional surgical techniques to provide the anatomic substrate for subsequent endovascular repair of the aortic aneurysm. METHOD: A 77-year-old patient with severe cardiac disease was found to have a 6.5-cm AAA, bilateral common iliac artery (CIA) aneurysms, and diffusely narrowed, tortuous external iliac arteries. The left internal iliac artery was occluded. At operation, the right CIA was exposed through a transverse retroperitoneal incision under epidural anesthesia. An iliobifemoral bypass was constructed using a preformed bifurcated graft. A stent-graft was delivered through the right limb of the bifurcated iliobifemoral graft. The proximal end of the stent-graft was implanted in the neck of the aneurysm, and the distal end was deployed in the common trunk of the iliobifemoral graft, thereby excluding the AAA and both native iliac arteries from prograde arterial flow. RESULTS: Completion angiography and follow-up contrast computed tomography showed the aneurysm to be excluded from the circulation. The patient was not intubated, was never hemodynamically unstable, and had aortic blood flow interrupted for no more than 20 seconds. In addition, he was able to resume his usual diet on the first postoperative day. He continues to be well and without evidence of endoleak at 6-month follow-up. CONCLUSIONS: This case demonstrates that iliac artery stenosis, tortuosity, and aneurysmal dilatation are not impediments to endovascular AAA exclusion. Any necessary surgical modifications of pelvic arterial anatomy can be performed before stent-graft insertion to minimize aortic occlusion time.