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Biomedical subjects

P Merlob

Publications and source records attributed to P Merlob.

At least 19 recordsLinked to original sources
PubMed1992

Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community.

It is common among Israeli Arabs who live in the villages to prefer consanguineous marriages, particularly among first cousins. In addition, such villages are populated by a few (less than 20) original families, and inter-family/inter-village marriages are infrequent. The purpose of this study was to examine the consequences of such "consanguinity" in Taibe, a large Arab village, 30 km from Tel Aviv. Six hundred ten families were prospectively ascertained through infants who were routinely seen in the local "Well Baby Clinics." A significant increase in the incidence of major malformations was noted in relation to the closeness of the parental relationship. For the index cases group the prevalence of individuals with major malformations were 5.8% in the product of inter-village marriages, 8.3% in the intra-village non-related matings, 15.1% in the distant consanguineous group, and up to 15.8% in the progeny of first-cousin marriages (P less than 0.001). In the siblings of these index cases, the frequency of major malformations was 4.3%, 4.5%, 10.5%, and 10.3%, respectively. Analysis of the major malformations by each body system showed the same trend. The study demonstrates a marked high rate of consanguineous marriages, whose effect leads to a marked increase in major malformations and thus a prominent public health problem in such villages. This requires a unique genetic counseling approach.

Congenital Abnormalities↗
PubMed1992

Congenital anomalies concomitant with persistent primary congenital hypothyroidism.

The Israeli national neonatal screening program for congenital hypothyroidism (CH) was initiated in May 1978. The overall incidence of persistent primary congenital hypothyroidism (PPCH) during the first 10 years of screening was 1:2,950 live births. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with PPCH and to compare it with the Israeli Birth Defect Monitoring System data. Among 243 PPCH infants on whom adequate data were available, 38 infants (15.6%) had associated congenital anomalies. Fourteen infants had congenital cardiac anomalies (5.8%): VSD (n = 7), PDA (n = 3), PS (n = 2), one mitral insufficiency, and one congenital atrial flutter. Eight children (3.3%) had congenital dislocation of the hip; their M:F ratio was 3:5 similar to the M:F ratio in CH (unlike the ratio in the general population). Some additional anomalies were considerably more common than in the general population. It is reasonable to assume that teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETA.

Congenital Abnormalities↗
PubMed1992

Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.

The syndrome of Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) is clinically and genetically heterogeneous. Classically, patients with PHP have the skeletal features of AHO, resistance to multiple hormones that work via cAMP such as parathyroid hormone and thyroid stimulating hormone, and deficient activity of Gs protein, the guanine nucleotide-binding protein that stimulates adenylate cyclase. However, patients without hormone resistance but with AHO and Gs deficiency were described (PPHP), as well as patients with multiple hormone resistance but without AHO or Gs deficiency. In a few patients with deficient Gs activity, hypothyroidism rather than hypocalcemia was the initial presentation of the disorder. We describe here a new variant of the syndrome, affecting 5 individuals in a 3 generation family with AHO, normal Gs activity and hypothyroidism. In the first 2 generations, mild features of AHO were present. The 2 sibs in the third generation had severe manifestations of AHO, including mild mental retardation as well as hypothyroidism. Diagnosis of congenital osteoma cutis at birth of the proband led to the diagnosis of the family. Elucidation of the molecular defect will shed light on the relationship between hormone resistance and AHO, as well as on the physiological mechanism of hormonal signal transduction.

Adolescent↗
PubMed1992

Prevalence of minor congenital anomalies in newborns of diabetic mothers.

Minor congenital anomalies (MCA) were assessed in the offspring of 802 gestational diabetic mothers, 117 pre-gestational diabetic mothers, and 380 offspring born to normal mothers. The prevalence of infants with MCA ranged between 19.4% and 20.5% in the three groups without any significant difference between them. There was no correlation between the prevalence and type of MCA and the severity of the diabetic state. Neither was there any correlation between the prevalence or type of MCA and the appearance or type of major congenital anomalies.

Abnormalities, Multiple↗
PubMed1992

Neonatal intestinal perforation due to congenital defects in the intestinal muscularis.

Congenital defect of the muscular layer of the small intestine is a rare cause of spontaneous bowel perforation in premature infants. During the last 12 years we have observed four similar cases. We describe the most recent one, a premature infant who developed two abdominal events. On her 2nd day of life, spontaneous perforation of the distal ileum due to focal absence of the muscular layer occurred. Several weeks later she developed the typical clinical and histological picture of necrotizing enterocolitis. The clinical and histological characteristics of the two different conditions are compared, and the 24 cases reported in the literature are discussed. We conclude that focal absence of intestinal musculature may be not such a rare entity as is commonly believed.

Female↗
PubMed1992

Polycythemia of the preterm and full-term newborn infant: relationship between hematocrit and gestational age, total blood solutes, reticulocyte count, and blood pH.

The umbilical venous hematocrit at birth (Hct 1) and the peripheral venous hematocrit at 2 h of life (Hct 2) were determined in 78 healthy full-term and 14 healthy preterm newborn infants. Hct 1 was 51.6 +/- 4.1% in full-term infants and 50.8 +/- 4% in preterm infants. Hct 2 was 60.9 +/- 2 and 58.6 +/- 6.1% in full-term and preterm infants, respectively. Significant differences between Hct 1 and Hct 2 were found in both groups of infants (p less than 0.01). The blood viscosity increased significantly in both groups from birth to 2 h of life. Neonatal polycythemia (Hct higher than 70% at 2 h of life) was detected in only 3 full-term infants (3.8%). They received partial exchange transfusion. There was a positive linear correlation of Hct 1 with Hct 2 in full-term newborns (r = 0.71, p less than 0.001) and preterm infants (r = 0.57, p less than 0.02). No infants with Hct 1 equal to or below 50% had Hct 2 higher than 65%. None with Hct 1 between 51 and 54% had Hct 2 higher than 70%. Neither Hct 1 nor Hct 2 correlated with birth weight, gestational age, total blood solutes, or reticulocyte counts at birth in either group. An inverse linear correlation was found between blood pH at birth and Hct 2 in preterm newborn infants (r = 0.66, p less than 0.02).

Birth Weight↗
PubMed1992

Transient hepatic dysfunction in an infant of an epileptic mother treated with carbamazepine during pregnancy and breastfeeding.

OBJECTIVE: A case is reported of a carbamazepine (CBZ)-treated epileptic mother whose newborn presented with transient hepatic dysfunction characterized by direct hyperbilirubinemia and high concentrations of gamma-glutamyltransferase (GGT). DATA SOURCES: Information was obtained from case reports, clinical trials, and relevant bibliographic laboratory studies. DATA EXTRACTION: Data from case reports were evaluated and compared with those from our patient. The hepatotoxic reactions together with the microsomal enzymatic induction of CBZ were reviewed. DATA SYNTHESIS: A female infant born to an epileptic mother treated with CBZ throughout pregnancy and breastfeeding presented with transient direct hyperbilirubinemia and high concentrations of GGT. The characteristics of her transient hepatic dysfunction were: early appearance (during the first day of life); discrepancy between the normal liver enzymes and high GGT concentrations; slow decrease of GGT, which nevertheless remained at above-normal concentrations even after the complete disappearance of direct hyperbilirubinemia; and spontaneous resolution in spite of only occasional breastfeeding. The possible explanations of this transient hepatic dysfunction (like enzymatic induction) are discussed. CONCLUSIONS: CBZ-induced hepatic dysfunction in neonates appears to have different clinical expressions. Infants of epileptic mothers treated with CBZ throughout pregnancy and breastfeeding should be carefully monitored for possible adverse effects.

Adult↗
PubMed1992

The effect of light on oxygen-induced vasoproliferative retinopathy in newborn kittens.

The effect of bright fluorescent light (115 fc) on oxygen-induced retinopathy in newborn kittens was compared with that of complete darkness and cyclic illumination of 12 hr of bright light (115 fc) and 12 hr of complete darkness. No significant difference was found in the extent of preretinal vasoproliferation and retinal ultrastructural findings among the three groups of kittens reared in different levels of illumination and a control group raised in a standard laboratory illumination level of 40 fc. These results confirmed that light is not a required factor for the development of oxygen-induced retinopathy in kittens.

Animals↗
PubMed1992

Suction purpura.

BACKGROUND: Purpuric eruptions due to local mechanical causes are commonly seen, particularly in children. These eruptions are not always recognized as isolated purpura, and the patient may be submitted to an unnecessary extensive hematologic workup. We present various causes of suction purpura and outline a logical investigational approach. OBSERVATIONS: Suction purpura result from an external force exerting negative pressure on a circumscribed area of the skin, producing small grouped petechiae. We present a number of such suction purpura-causing mechanisms: Pressure during the delivery of a neonate, children's habits or play activities, and iatrogenic causes produce similar cutaneous lesions. We also describe the gas mask suction purpura for the first time. CONCLUSIONS: Once the causative factor is established, there is no need for further investigation or treatment of suction purpura. The lesions will fade completely within a few days.

Adolescent↗
PubMed1991

Clitoral length assessment in newborn infants of 30 to 41 weeks gestational age.

Clitoromegaly in the neonatal period is an important morphological sign. There are only few reports establishing an objective assessment of clitoral size. The present study establishes normal standards for clitoral length in healthy premature and full-term infants. The data are expressed at the same time in relation to both gestational age and birth weight, two variables which are strictly intercorrelated. Appropriate curves, which permit an easy and rapid objective determination of clitoral size, are presented.

Birth Weight↗
PubMed1991

Breast mild jaundice: natural history, familial incidence and late neurodevelopmental outcome of the infant.

Jaundice associated with breast feeding is a frequent problem facing the paediatrician. Despite numerous reports on this subject, the natural history, familial occurrence and late neurodevelopment of children with breast milk jaundice remain unclear. The follow up of 60 infants with breast milk jaundice showed that there are two bilirubin peaks, on the 4th and 5th day and on the 14th-15th day of life. In the infants with uninterrupted breast feeding, the hyperbilirubinaemia disappeared slowly and could still be detected 12 weeks after birth. The familial incidence of 13.9%, indicating that in some cases a unique genetic factor is expressed. Late neurodevelopment or hearing defects were not observed, thus enabling the paediatrician to encourage continuation of breast feeding in most cases of healthy infants with breast milk jaundice.

Bilirubin↗
PubMed1991

Genital mycoplasmas in preterm infants: prevalence and clinical significance.

The genital mycoplasmas: Ureaplasma urealyticum and Mycoplasma hominis have recently assumed an increasing importance as neonatal pathogens. The aim of the present survey was to determine the prevalence of infections with these organisms in preterm infants in two neonatal intensive care units in Israel. Among 99 preterm infants, 24 (24%) harboured mycoplasmas in their throats shortly after birth. U. urealyticum was the most common organism. M. hominis was isolated only from 3 infants. Six out of 27 (22%) mechanically ventilated infants secreted U. urealyticum in their lower airways. The rate of colonization was inversely correlated with gestational age; 80% of infants younger than 28 weeks gestation were found to be colonized as opposed to 17.9% at 28-36 weeks of gestation. No mycoplasmas were isolated in blood cultures drawn from 146 infants and CSF cultures obtained from 47 preterm infants. Neonatal mortality, respiratory complications and intraventricular haemorrhage grade 3-4 were significantly increased in colonized infants. However, above gestational age of 27 weeks, colonization with mycoplasmas was not associated with a worse prognosis. We conclude that colonization with U. urealyticum is common in Israeli preterm infants, correlates inversely with gestational age and has no detrimental effect on neonatal morbidity and mortality of infants older than 27 wks of gestation.

Genitalia↗
PubMed1991

Normal ranges of hip motion of preterm infants.

The hip motion of 158 preterm infants with gestational ages between 25 and 36 weeks was measured. The results of this study, compared with those of previous studies of term infants, show that hip motion changes with increasing gestational age above 25 to 27 weeks.

Female↗