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Biomedical subjects

P Merlob

Publications and source records attributed to P Merlob.

At least 19 recordsLinked to original sources
PubMed1999

Congenital malformations in twins: an international study.

Data provided by nine registries based in European and Latin America countries were analyzed to assess whether there is an excess of malformations in twins compared to singletons. Specific congenital malformations were coded according to the ninth revision of the International Classification of Diseases (ICD). Malformation rates and rate ratios (RR) for twins compared to singletons were calculated for each registry, and the homogeneity of the RRs was tested using the test of Breslow and Day. If departure from homogeneity in the different registries was not significant, registry-adjusted RRs with 95% confidence intervals were calculated. Overall, among 260,865 twins, 5,572 malformations were reported. A total of 101 different types of malformations or groups of defects was identified, and a homogeneous estimate of the RRs among registries was found for 91.1% of the malformations. Thirty-nine of the 92 malformations with homogeneous estimates of RRs were more common in twins than in singletons. For the remaining nine malformations, heterogeneous estimates of RRs were obtained. This study confirms the majority of already known associations and further identifies previously unreported malformations associated with twins. In conclusion, there is an excess of malformations in twins compared with singletons, and all anatomical sites are involved. The number of specific malformations associated with twins is higher than that previously reported in smaller studies.

Congenital Abnormalities↗
PubMed1998

Adams-Oliver syndrome: autosomal recessive inheritance and new phenotypic-anthropometric findings.

We describe a new family with Adams-Oliver syndrome. One sib had scalp aplasia cutis congenita (SACC) and cutis marmorata and a second sib had SACC, cutis marmorata, and terminal lower limb defects. In both the findings were associated with oligohydramnios. The pedigree suggests autosomal recessive inheritance. New phenotypic-anthropometric findings in one infant were upper limb micromelia and brachypodia.

Anthropometry↗
PubMed1998

Fracture of the clavicle in the newborn following normal labor and delivery.

OBJECTIVE: Earlier works have associated neonatal clavicular fracture (0.2-3.5% of all deliveries) with a range of procedural, fetal and maternal risk factors; more recent studies, however, have failed to firmly identify any one or a combination of them. In the present work we sought to determine possible ante/intra-partum risk factors for this condition. STUDY DESIGN: Using a retrospective case-controlled approach, we examined a series of maternal, fetal and pregnancy or delivery-related variables in 87 cases (out of 403) of fractured clavicle of the newborn diagnosed in our department from 1986 to 1994. All infants were delivered vaginally (in the occipito-anterior position) at term by a specialist obstetrician and underwent peripartum sonographic fetal weight estimation. All variables were compared with those of an equal number of infants born immediately before or after each affected infant and delivered by the same obstetrical team. RESULTS: Fractured clavicles were found in 1.65% of the total number of deliveries during the study period. Neonatal clavicular fracture was significantly and directly related to the duration of the second stage of labor, peripartum sonographic fetal weight estimation, and neonatal length, and inversely related to maternal height; nevertheless, all values in both the study and control groups were within normal range. Logistic regression analysis showed that these antenatal variables significantly affect the chances of clavicular fracture, but due to the high false-positive rate they cannot serve clinically as a comprehensive antenatal prediction index. CONCLUSIONS: The majority of clavicular fractures occur in normal newborns following normal labor and delivery. The risk factors we identified statistically do not offer a method for clinical prenatal prediction. This work provides statistical evidence of the nature of this complication of early newborn life.

Adult↗
PubMed1998

Prenatal diagnosis of crossed ectopic multicystic kidney.

The combination of multicystic kidney and crossed ectopia is very rare. In most of the affected children, diagnosis has been made postnatally by ultrasonographic examination to evaluate a palpated abdominal mass. We describe the third male newborn reported in the literature with a prenatally diagnosed crossed ectopic multicystic dysplastic kidney. As with isolated multicystic kidney, crossed ectopic multicystic kidney should be followed closely after birth by repeated ultrasound for spontaneous regression. Only in cases of anomalies of the contralateral (uncrossed) kidney should the question of surgical intervention be raised.

Diagnosis, Differential↗
PubMed1998

Involution rate of multicystic renal dysplasia.

OBJECTIVE: To document the involution rate and long-term results of management of multicystic dysplastic kidney. MATERIALS AND METHODS: Data were collected retrospectively for all 23 infants (16 boys) with multicystic dysplastic kidney who were treated at our center over the last 19 years (1977-1995). The diagnosis was based on prenatal ultrasound in 18 patients and on palpable abdominal mass in 5, and confirmed in all patients by postnatal ultrasound and radioisotope scan. Voiding cystography was performed in 18 patients to exclude vesicoureteral reflux. Mean follow-up was 46 months (range, 3 months to 5 years) and included serum creatinine measurements and renal ultrasonography. RESULTS: Two groups of patients were identified. Ten (43.6%) with other urologic abnormalities (group A) and 13 patients without other urologic abnormalities (group B). Vesicoureteral reflux was observed in 4 patients. Nephrectomy was performed in 4 patients, all from group B. The other 19 patients were treated conservatively. Complete involution was observed in 8 patients in group A and 6 in group B after a mean follow-up period of 9.2 and 10 months, respectively. Two patients, 1 from each group, later underwent nephrectomy not because of no involution but because of an increase in the size of the kidney involved. CONCLUSION: Patients with multicystic renal dysplasia have significant associated urologic malformations, and the natural history of the disease is unpredictable. All patients require appropriate investigation of the urinary tract and long-term follow-up. The most outstanding finding of the study is the much higher involution rate of multicystic renal dysplasia and the rate of associated urologic abnormalities than that reported in the literature. Surgery remains an option for the patients in the absence of no involution. multicystic dysplastic kidney, surgery, conservative.

Abnormalities, Multiple↗
PubMed1997

Normal pulmonary function in a monoamniotic twin discordant for bilateral renal agenesis: report and review.

Renal agenesis and obstructive urinary tract anomalies causing oligohydramnios usually result in pulmonary hypoplasia. We report on the first female monoamniotic twin born with a combination of bilateral renal agenesis, agenesis of the urinary collecting system, absent external genitalia, anal atresia and single umbilical artery, compatible with VATER association but with normal pulmonary function. The infant had none of the manifestations of Potter sequence, in particular the facial changes and pulmonary hypoplasia typically associated with bilateral renal a/dysgenesis. The monoamniotic cotwin had normal renal function, such that sufficient amniotic fluid volume was maintained. This patient emphasizes the importance of adequate amniotic fluid volume for normal pulmonary development. The possible underestimation of genital malformations in the VATER association should be considered. Also noteworthy is the rare absence of external genitalia.

Abnormalities, Multiple↗
PubMed1997

The spectrum of congenital anomalies of the VATER association: an international study.

The spectrum of the VATER association has been debated ever since its description more than two decades ago. To assess the spectrum of congenital anomalies associated with VATER while minimizing the distortions due to small samples and referral patterns typical of clinical series, we studied infants with VATER association reported to the combined registry of infants with multiple congenital anomalies from 17 birth defects registries worldwide that are part of the International Clearinghouse for Birth Defects Monitoring Systems (ICB-DMS). Among approximately 10 million infants born from 1983 through 1991, the ICB-DMS registered 2,295 infants with 3 or more of 25 unrelated major congenital anomalies of unknown cause. Of these infants, 286 had the VATER association, defined as at least three of the five VATER anomalies (vertebral defects, anal atresia, esophageal atresia, renal defects, and radial-ray limb deficiency), when we expected 219 (P<0.001). Of these 286 infants, 51 had at least four VATER anomalies, and 8 had all five anomalies. We found that preaxial but not other limb anomalies were significantly associated with any combination of the four nonlimb VATER anomalies (P<0.001). Of the 286 infants with VATER association, 214 (74.8%) had additional defects. Genital defects, cardiovascular anomalies, and small intestinal atresias were positively associated with VATER association (P<0.001). Infants with VATER association that included both renal anomalies and anorectal atresia were significantly more likely to have genital defects. Finally, a subset of infants with VATER association also had defects described in other associations, including diaphragmatic defects, oral clefts, bladder exstrophy, omphalocele, and neural tube defects. These results offer evidence for the specificity of the VATER association, suggest the existence of distinct subsets within the association, and raise the question of a common pathway for patterns of VATER and other types of defects in at least a subset of infants with multiple congenital anomalies.

Abnormalities, Multiple↗
PubMed1997

Effects of consanguineous marriage on reproductive outcome in an Arab community in Israel.

Intrafamilial marriage is favoured by the Arab community in Israel, almost all of whom live in villages populated by a few (< 20) founding families. A previous study in Taibe, a large Arab village located 30 km from Tel Aviv, showed a significantly high malformation rate among infants of consanguineous parents. The present study examines the reproductive consequences of parental consanguinity in 610 families from the same village, selected retrospectively through infants routinely seen in the local well baby clinic. All mothers were interviewed with regard to previous pregnancy outcomes, including abortions, stillbirths, and neonatal or infant deaths, as well as the degree of consanguinity. In addition, we analysed the anthropometric measurements of the probands. The incidence of infant deaths was significantly higher in the inbred group (p < 0.001). No significant increase in fetal loss between the inbred and outbred groups was observed. There were no differences in anthropometric features, except for a lower birth weight in the consanguineous group (p < 0.035). This study, combined with our previous studies of the same population, indicates a prominent public health problem associated with consanguineous marriage in the Arab community and a need for specific genetic counselling.

Arabs↗
PubMed1997

Click evoked otoacoustic emissions: inter-aural and gender differences in newborns.

Click evoked otoacoustic emissions (CEOAEs) are an objective and reliable method of assessing cochlear status, particularly suitable for newborns. This study aimed to assess CEOAE inter-aural and gender differences. Other non-auditory factors, such as infant's head size and weight, were considered. Band averaged CEOAEs were analyzed for 120 healthy, full term newborns, 61 females and 59 males. The babies were randomly selected from the nursery and tested in a quiet room away from the ward, using an Otodynamic ILO 92 system. The CEOAEs of the females were significantly larger than those of the males. For the frequency bands 2, 3, and 4 kHz and for the overall response, the emissions were larger in the right ear, for both males and females. These inter-aural differences were more pronounced in male subjects than in female subjects. These findings may reflect the accumulating evidence that differences exist in efferent cochlear inhibition.

Acoustic Stimulation↗
PubMed1996

Viscosity and refractive index of follicular fluid in relation to in vitro fertilization.

PURPOSE: To set the standard values of follicular fluid viscosity and refractive index, and to investigate a possible relationship between these physiological parameters and the outcome of in vitro fertilization treatment. DESIGN AND RESULTS: 128 samples of follicular fluid were collected from 40 in vitro fertilization patients. Viscosity determinations (centipoise; mean +/- SD) for shear rates of 23, 46, 115, and 230 were 2.04 +/- 0.86, 1.84 +/- 0.49, 1.48 +/- 0.27, and 1.38 +/- 0.22, respectively. The average (+/- SD) refractive index was 1.030 +/- 0.002. There was no significant difference between the values of thawed frozen fluids and fresh samples of the same specimens. The data showed no correlation between follicular fluid viscosity or refractive index and the presence of oocytes, their maturation grade or their fertilizing capacity. CONCLUSIONS: For the first time, values of the viscosity and refractive index of follicular fluid obtained during in vitro fertilization have been determined. However, these preliminary results did not reveal any relationship between the physiological parameters examined and the outcome of in vitro fertilization treatment.

Female↗
PubMed1996

Pregnancy outcome after prenatal quinolone exposure. Evaluation of a case registry of the European Network of Teratology Information Services (ENTIS).

OBJECTIVE: To study potential teratogenic effects of quinolone exposure during pregnancy. STUDY DESIGN: Prospective follow-up study. Subjects are pregnant women who contacted a teratology information center for risk information on quinolone treatment. A total of 549 pregnancies was collected by the European Network of Teratology Information Services between 1986 and 1994. In addition 116 prospectively documented pregnancies and 25 retrospective case reports on malformed children from other databases were analyzed. RESULTS: The malformation rate among the live-born babies in the prospective ENTIS cohort was approximately 4.8%. No specific patterns of congenital abnormalities were found. The results do not suggest an elevated risk for spontaneous abortion, prematurity, intrauterine growth retardation and postnatal disorders. CONCLUSION: The present study does not reveal any clear adverse reactions (fetal and neonatal toxicity, including birth defects) due to the in utero exposure to quinolones. Hence, termination of pregnancy because of such exposure is not indicated. However, considering the limitations of this study and the fact that diseases urgently requiring quinolone treatment are rare, it appears advisable to prefer penicillin, cephalosporins and erythromycin as antibiotics of choice.

4-Quinolones↗
PubMed1996

Bell's phenomenon in newborns and premature babies.

AIMS: To evaluate the development and course of Bell's phenomenon (BP) in premature and normal neonates. METHODS: Twenty seven preterm infants and 42 healthy full term infants were studied. Mean birth weight, gestational age, and head circumference were recorded. BP was graded from no response to full response. The premature group was examined in the first week of life, and then at 4 and 8 weeks after birth. The full term group was initially examined at the age of 3 days until a full response was observed. RESULTS: No preterm infants exhibited BP during the first week of life, while 8/28 (29.6%) exhibited a weak to full reflex at 8 weeks of age. In the full term group 15/42 neonates (35.7%) demonstrated a mature reflex at age of 3 days and 36/37 (97.3%) at age 16 weeks. A significant correlation was observed between BP, sex, and birth weight, as well as gestational age in the premature group. No such correlation was found in the full term infants. CONCLUSION: BP has a longitudinal course. It is an important clinical marker for evaluation and follow up of neuro-ophthalmic maturation in neonates.

Age Factors↗
PubMed1996

Perinatal complications following gestational diabetes mellitus how 'sweet' is ill?

OBJECTIVE: We tested the effect of patient compliance, fasting plasma glucose on oral glucose tolerance test, maternal body constitution, and the method of treatment (diet versus insulin) on the perinatal outcome of patients with gestational diabetes mellitus. STUDY DESIGN: A prospective population-based study compared the perinatal outcome of patients with gestational diabetes mellitus (n = 470) (diabetic with regard to the parameters specified above) and a contemporaneous control group (nondiabetic, n = 250). RESULTS: The diabetic and control groups were matched in demographic characteristics. Patient compliance reduced the rate of macrosomia (14.4%) and neonatal hypoglycemia (3.4%) but not to the levels of the control group (5.2% and 1.2% respectively, p < 0.05). The level of fasting plasma glucose on the oral glucose tolerance test had no effect on perinatal outcome. Intensified (insulin) treatment reduced the rate of macrosomia and large-for-gestational age infants in the subgroups with intermediate and high levels of fasting plasma glucose on the oral glucose tolerance test (9.5%/14.2% and 12.2%/24.2% respectively), again not to levels of the control group (5.2%/10.8%). Obese patients were found to have more perinatal complications than lean patients. Intensified (insulin) treatment has proved to be beneficial in terms of reducing the rate of perinatal complications in the obese patients, but not to the corresponding levels of the control group. Such treatment had no effect on the lean patients. CONCLUSIONS: Strict control of maternal hyperglycemia and high patient compliance are imperative for an effective reduction of perinatal complication in patients with gestational diabetes mellitus. The desired plasma glucose level in the glycemic control of these patients should be further reduced, thus bringing the rate of perinatal complications to that of the normal population.

Adult↗