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Biomedical subjects

S H Reisner

Publications and source records attributed to S H Reisner.

At least 19 recordsLinked to original sources

Energy intake, growth, and development in ventilated very-low-birth-weight infants with and without bronchopulmonary dysplasia.

Seventy-one ventilated very-low-birth-weight infants (birth weight, 500 to 1250 g) with (n = 30) and without (n = 41) bronchopulmonary dysplasia were studied to compare their growth achievements and to determine the association between neurodevelopmental outcome, growth, and nutrition. Growth delay was observed in both groups. No association was found between head circumference and percent weight loss, age to full gavage feeds, age to regain birth weight and energy intake at 2 and 4 weeks of life. Fifty percent of infants with bronchopulmonary dysplasia and 37% of the control group had minor and major handicap. Mean duration of assisted ventilation was significantly longer in handicapped infants (21.5 vs 12.5 days; F = 6.49; df = 1,53). No association was found between abnormal neurodevelopmental outcome and weight, length, and head circumference at 12 and 21 months after term. Although mean energy intake per kilogram per day at 2 weeks of life was significantly lower in handicapped infants (344.82 vs 412.86 kJ; F = 7.6; df = 1,53), age to regain birth weight, age to full feeds, percent weight loss, and energy intake at 4, 6, and 8 weeks of life did not differ significantly between normal and handicapped infants. Aggressive nutritional support to promote growth in ventilated very-low-birth-weight infants may not influence the neurodevelopmental outcome.

Anthropometry↗

Neonatal polycythaemia: effect of partial dilutional exchange transfusion with human albumin on whole blood viscosity.

Haematocrit (HCT) and viscosity of whole blood were measured in ten polycythaemic hyperviscous newborn infants both before and after dilutional partial exchange transfusion with 5% albumin. This was performed in order to evaluate the effect on the lowering of HCT and whole blood viscosity. Mean umbilical HCT values decreased from 68.7% before, to 54.4% post transfusion. This decrease in HCT and viscosity was highly significant (P less than 0.001). Safety and lack of complications make human albumin solution superior to human plasma for exchange transfusion in neonatal polycythaemia.

Blood Proteins↗

New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q.

We describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,-1,+der(1),t(1;4) (q44;q23 or 24)mat. She is the first patient with an unbalanced translocation involving chromosomes 4 and 1. There is a substantial amount of concordance between the phenotypic features of this patient and those described in the context of partial deletion 1q. The extensive duplication of 4q has no dominant clinical effects in the present infant. These facts support the general concept of much more deleterious effects of deletions versus duplications in human species.

Abnormalities, Multiple↗

The prevalence of high insertion of scrotum, hydrocele and mobile testis in the newborn infant (36-42 weeks gestation).

The prevalence of some minor abnormalities of the male genitalia was studied in 271 boys born over a period of 2 months. The scrotal insertion on the ventral side of the penis was determined in an objective manner by measuring the ratio of the ventral and dorsal length of the unstretched penis. A scrotal insertion ratio of less than 0.48 defined high insertion of the scrotum which was found in 2.7% of our newborn infants. This anatomical finding has an important clinical significance for the performance of early circumcision. The prevalence of hydrocele in all male newborn infants was 57.9%. Extravaginal (communicating) type was present in 86% of all infants, intravaginal (noncommunicating) in 9.5%, while both types of hydrocele in the same neonate was observed in 4.5%. The relatively high frequency of mobile testes (22%) is of interest. The natural history of this entity is not fully understood and the question of follow-up remains open.

Anthropometry↗

Real-time echo-Doppler Duplex Scanner in the evaluation of patients with Poland sequence.

In two neonates with partial Poland sequence, an infant with complete Poland sequence and his mother subclavian artery diameter and its flow velocity waveforms were determined by real-time echo-Doppler Duplex Scanner. These measurements were significantly lower than on the normal side in the same patient. Subclavian hypoplasia appears as a local vascular defect which, in addition to thoracic muscle defects and bone defects of the hand, may be one of the main components of the Poland sequence.

Echocardiography, Doppler↗

Hyperbilirubinemia and influencing factors in term infants.

The development of jaundice was investigated in 275 consecutive full-term infants and determined longitudinally in each neonate. The mean peak of bilirubin was 7.90 +/- 0.20 mg/dl observed at 64.0 +/- 1.3 h of life. Three factors were found to significantly alter the course of hyperbilirubinemia: first and second bilirubin determinations (at 2 to 4 h and 12 to 24 h, respectively), weight loss and male sex. Increased weight loss was positively correlated with hyperbilirubinemia irrespective of the mode of feeding.

Bilirubin↗

Autosomal dominant isolated ('uncomplicated') microcephaly.

A large family (13 affected members in three generations) is reported in which isolated microcephaly occurred without any other dysmorphic or neurological abnormalities. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance, including one example of male to male transmission and the occurrence of a non-manifesting heterozygote resulting in a 'skipped generation'. There is considerable variation in the phenotypic expression of autosomal dominant microcephaly. This isolated (uncomplicated) type of microcephaly should be distinguished from other well defined, dominantly inherited forms of microcephaly.

Cephalometry↗

Cardiorespiratory depression and plasma beta-endorphin levels in low-birth-weight infants during the first day of life.

Twenty-nine premature infants were studied to determine whether neonatal asphyxia, apnea, and low blood pressure in the first day of life are associated with elevated plasma beta-endorphin concentrations. Plasma beta-endorphin levels were determined at 0.5 to 2, 4 to 6, and 18 to 24 hours of life, using radioimmunoassay. Premature infants with moderate or severe asphyxia (n = 19) had higher levels at 0.5 to 2 hours of age (32.1 +/- 6.7 vs 16.4 +/- 7.4 pmol/L) and significantly higher levels at 4 to 6 hours of age (50.4 +/- 10.0 vs 22.9 +/- 9.2 pmol/L) compared with the ten nonasphyxiated premature infants. A significant elevation in levels at age 0.5 to 2 hours (39.4 +/- 9.9 vs 17.7 +/- 4.4 pmol/L) and age 4 to 6 hours (59.3 +/- 13.8 vs 27.1 +/- 17.1 pmol/L) was observed in premature infants with low blood pressure or impaired perfusion (n = 12) who required the administration of volume expanders. No differences were observed in premature infants with and without apnea. It may be speculated that the increased endogenous release of beta-endorphins in response to perinatal asphyxia may play a role in the pathogenesis of shock observed in the first day of life.

Apnea↗

Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings.

We describe two patients, a father and his daughter, with the cerebro-costo-mandibular syndrome. New manifestations not previously described include microstomia, long philtrum, posterior cervical skin fold, short internipple distance, and depressed sacral region. The presence of hydrocephaly in the proposita and spina bifida in the father may be other manifestations of neuraxial involvement in this syndrome. The first intrauterine ultrasonographic documentation of this syndrome showed polyhydramnios and, especially, the very unusual shape of the ribs, which were short and defective. Most characteristics of the pedigree point to autosomal dominant inheritance. The great variability of inheritance and expressivity of the very few documented familial cases described in the literature, together with the great frequency of sporadic cases, indicates genetic heterogeneity of this syndrome.

Abnormalities, Multiple↗

Epispadias with complete prepuce and phimosis in a neonate.

A rare type of epispadias in a neonate is described in which a complete phimotic prepuce was present. In this situation, the accurate diagnosis is very difficult and may be easily overlooked in the neonatal period. The broad, spadelike glans, the dorsally directed prepucial opening, and the urinary stream are signs previously described. The special shape of the raphe penis and the depression between the corpora cavernosa felt by palpation of the glans are useful new clinical signs to suspect this type of epispadias.

Epispadias↗

Cervico-occipital teratoma in the newborn infant. Case report.

A case of cervico-occipital teratoma in a neonate is presented. This is the third reported case of teratoma in this unusual location and the first excised during the neonatal period. The radiographic and histological examination, treatment, and follow-up findings in this case are presented, along with a review of the literature.

Head and Neck Neoplasms↗

Types of hymen in the newborn infant.

The incidence of various types of hymenal shape, its orifice and their interference with spontaneous vaginal discharge were investigated during the routine physical examination of 333 female infants within the first 24 h of life. A smooth hymen with a central orifice was observed in 53.5% of the female neonates, a folded hymen with a central orifice in 27.3%; folded hymen with eccentric orifice in 4.5%; an anterior opening of the hymen in 10.8%; posterior opening in 0.6%; hymenal band in 3%; almost imperforate hymen in 0.3% of the newborns. The presence of anterior opening, posterior opening, hymenal band or almost imperforate hymen may interfere with free vaginal discharge. A ruffled, irregular hymen and a hymenal band require a careful investigation for other genital malformations.

Female↗

Congenital depression of the neonatal skull.

Congenital depression of the neonatal skull has had an incidence of 0.1% (1/10 000) in our newborn population during the past 8 years. These skull depressions have two pathogenetic types: deformation without fracture and fracture accompanied by depression. The cause of skull depression being the pressure exerted by the digits and fist of the newborn on his skull has not been previously reported. The treatment of choice for selected cases is nonsurgical elevation with an obstetric vacuum extractor. A CT scan should be performed prior to this treatment to rule out intracranial complications such as hemorrhage.

Birth Injuries↗

Long-term results of cryotherapy for active stages of retinopathy of prematurity.

Between 1976 and 1980, retinopathy of prematurity (ROP) stage III (moderate) (fibrovascular proliferation) developed in 29 eyes (confluent fibrovascular proliferation of 3 clock hours in extension) of 17 preterm babies. The eyes were treated by cryopexy to the avascular retina. Analysis of the visual function and anatomic results in these eyes, five to eight years postoperatively, revealed very good visual function and only a few anatomic abnormalities. Comparison of these eyes with those of two groups of age- and birth-weight-matched preterms (one with less severe ROP, not treated by cryopexy, and the other with no ROP) showed that the degree of myopia was significantly higher in the cryotreated group. Although not statistically significant, there was a higher incidence and a greater degree of astigmatism in this study group.

Cicatrix↗