Newborn Syndrome Research Articles

Chromosome 22q11.2 microdeletion in a patient with hemophilia A

We report a 6-year-old patient with hemophilia A, who also exhibited clinical features typical of 22q11.2 deletion syndrome (22qDS). The specific traits were mild mental retardation, speech delay, hypernasal speech, deficits in voice quality and articulation, narrow palpebral fissures, broad and depressed nasal root, high-arched palate, microstomia, and overfolded ears. The patient had no associated congenital cardiac or palatal malformations. It can be particularly difficult to identify this syndrome in newborns and infants without congenital heart defects. This case underlines that microdeletion of chromosome 22q11.2 should be considered in any patient who exhibits typical clinical features of 22qDS, regardless of whether they have another single-gene disorder.

Buprenorphine withdrawal syndrome in newborns: a report of 13 cases

To assess neonatal abstinence syndrome (NAS) and neurodevelopmental outcome in infants born to addicted mothers under buprenorphine substitution therapy. District general hospital, Angoulême, France. Retrospective case records study of infants admitted to the neonatal intensive care unit (NICU) and/or special care baby unit (SCBU) from January 1994 to December 2000 for surveillance and/or treatment of buprenorphine NAS. Thirteen infants were born to addicted mothers under buprenorphine maintenance therapy during the study period. Eight were male and five were female; mean birth term and weight were 39 weeks gestation and 3000 g, respectively. Apgar scores were within normal limits; four infants were small for gestational age, none was dysmorphologic and none was extracted for fetal distress. NAS occurred in 11 cases (85%) and required treatment in 10 cases. Morphine chlorhydrate 0.5 mg/kg/day was administered in divided doses to seven children and gave better results than paregoric alone or in combination with diazepam. Upon follow-up, seven children presented transient lower limbs hypertonia, jerky movements and jitteriness that lasted 3-9 months. The overall milestones acquisitions were within normal limits. Buprenorphine substitution seems to be safe during pregnancy, and has had no teratogenic effects reported to date. It induces NAS of variable intensity that is less prolonged in comparison to methadone; the neurodevelopmental outcome of exposed children is normal in the majority of cases, although some presented with transient motor abnormalities that resolved completely in 85% of those recruited to our study.

Semipermeability Imparted by Surface-Active Phospholipid in Peritoneal Dialysis

It has previously been demonstrated that a lining of surface-active phospholipid (SAPL) is reversibly bound (adsorbed) to normal peritoneal mesothelium. The lining acts as a boundary lubricant and release (anti-stick) agent preserving mechanical Integrity of the epithelial surface. In a review of clinical trials on the use of SAPL (akin to "surfactant") to restore ultrafiltration (UF) in patients on peritoneal dialysis (PD), speculation is that, by adsorption, the SAPL lining might also be Imparting the semipermeability vital for UF. To evaluate the hypothesis, SAPL harvested from the spent dialysate of 5 patients with normal UF was deposited onto a porous, inert medium, and the resulting 7 "membranes" were clamped in an Ussing chamber used as an osmometer. With every "membrane," a clinical concentration of glucose (2.5%) was able to induce a statistically significant osmotic pressure when dialyzed against saline. We also demonstrated how synthetic SAPL--in the form of dipalmitoyl phosphatidylcholine (DPPC) and an admixture of DPPC with phosphatidylglycerol (PG) called artificial lung-expanding compound (ALEC)--imparts greater osmotic pressure In proportion to an Increasing glucose gradient. Our findings prove that human peritoneal SAPL has the physical capability to Impart semipermeability when adsorbed to a surface. As a lipid lining, adsorbed SAPL could also explain the high permeability of the natural membrane to lipophilic substances in PD. Administered as a very fine powder or as a solution in a lipid solvent, ALEC offers a potential treatment for restoring UF, if applied during the interdialytic Interval. In various physical forms, ALEC and DPPC have both been widely used for two decades with complete safety in the treatment of respiratory distress syndrome in newborns. The question of formulation of exogenous SAPL In restoring UF Is discussed as a complex physicochemical compromise between the higher surface activity of saturated phosphatidylcholine and its lower solubility in water.

Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients

Thirteen years ago, Motegi and colleagues (J Med Genet 1987;24:696–697) summarized the specific facial phenotype of six Japanese retinoblastoma patients with interstitial 13q14 deletions. Among a series of 228 propositi with retinoblastoma referred to the Lausanne Retinoblastoma Clinic for treatment and genetic counseling between 1986 and 1997, 13 (5.7%) were diagnosed with a cytogenetic de-novo 13q14 deletion. We confirm the presence of the reported facial phenotype in our population of Caucasian patients and describe additional clinical traits, thus extending the facial phenotype associated with the 13q14 deletion. Del(13q14) comprises, among others, cranial anomalies, frontal bossing, deeply grooved and long philtrum, depressed and broad nasal bridge, bulbous tip of the nose, thick lower lip, thin upper lip, broad cheeks, and large ears and lobules. Recognition of this particular facial appearance was instrumental in the genetic diagnosis of 13q deletions and in the presymptomatic diagnosis of retinoblastoma in a significant number of our cases. Identification of this phenotype in a retinoblastoma patient allows for efficient diagnosis of recurrence in his progeny and/or sibship, while its ignorance will compromise genetic counseling due to the possible difficulties in detecting large deletions by standard molecular mutation analysis. Recognition of this syndrome in newborns without known familial risk for retinoblastoma is even more important as it is a clear warning sign that indicates immediate ophthalmic examination.

Surgical adhesions: evidence for adsorption of surfactant to peritoneal mesothelium.

It has been speculated that the formation of surgical adhesions must be preceded by physical adhesion of the two surfaces, a process normally prevented by a lining of adsorbed surface-active phospholipid (surfactant) acting as both a superb boundary (solid-to-solid) lubricant and a release (antistick) agent. Animal trials administering exogenous surfactant as a dry powder (ALEC) have previously demonstrated a reduction of 80% in abdominal adhesions. Incubation of rat peritoneum (both live and excised) with radiolabelled dipalmitoyl phosphatidylcholine (DPPC) has been used to demonstrate adsorption; while the normal lining of surfactant in the human abdominal cavity has been confirmed by epifluorescence microscopy using Phosphin E as the hydrophobic probe. The overall aim is to confirm that peritoneal mesothelium has a lining of surfactant known for its lubricating and release properties, and that this lining can be enhanced by the adsorption of exogenous material. Adsorption of DPPC to peritoneal mesothelium was 470 ng/cm2 (n = 8) ex vivo and 598 ng/cm2 (n = 18) in vivo, these rates being enhanced by EggPG by 62% ex vivo and 47% in vivo to reach the equivalent of almost three close-packed monolayers. These results can explain the reduction in surgical adhesions previously reported in animals by administering ALEC (7:3 DPPC:EggPG) as a highly surface-active dry powder, although it is now used in saline suspension to treat respiratory distress syndrome in newborns, in whom it has no side-effects. These findings would appear to justify clinical trials for dry ALEC in suppressing surgical adhesions with minimal risk of an adverse reaction. The results of these trials are also discussed and found to be compatible with the known ability of surfactant to resist physical adhesion by fibronectin, the tacky 'glue' by which fibroblasts attach to surfaces as the first step in formation of fibrinous adhesions.

NEONATAL OUTCOME IN MECONIUM STAINED DELIVERIES — A PROSPECTIVE STUDY

This prospective study analyzes the neonatal outcome in deliveries complicated by meconium stained amniotic fluid. In a study of 1000 live born deliveries, meconium staining of amniotic fluid was seen in 50 (5%) deliveries. Out of these, 20 newborns (40%) developed classical signs of meconium aspiration syndrome and were managed according to a predetermined protocol. Multiparity, term deliveries, use of sedatives in mother, intrauterine growth retardation and prolonged labour were some of the risk factors for development of meconium aspiration syndrome in newborns. This study highlights the need for review of management protocol in newborns after meconium staining of the amniotic fluid, including the use of prophylactic antibiotics.

Gas Exchange during Gas and Liquid Ventilation

Liquid Ventilation with perfluorochemicals (PFC) violates many of our long-held assumptions about how the lung functions. However, the technique has been so successful in animal models of lung disease that it is currently being tested in clinical trials for the treatment of infant and acute (“adult”) respiratory distress syndrome in newborns, children, and adults. A common feature of both infant and acute respiratory distress syndromes is an inability of the lung's surfactant system to adequately lower surface tension, leading to regions of atelectasis. Liquid ventilation with PFC appears to ameliorate the disease process by lowering interfacial tension in the lung, opening regions of atelectasis, and improving gas exchange. To understand how gas exchange is successful during liquid ventilation requires careful re-evaluation of the assumptions underlying our current models of gas exchange physiology during normal gas ventilation. These assumptions must then be examined in light of the alterations in pulmonary physiology during liquid ventilation.

Prospective evaluation of faecal fatty acid excretion in short bowel syndrome in newborns

Short bowel syndrome (SBS) in the newborn results in limited intestinal absorptive capacity, leading especially to fatty acid (FA) malabsorption. It is unknown whether adaptation occurs in time in FA absorption, and whether this adaptation is chain-length dependent. The aim of the present study was to prospectively evaluate FA absorption and excretion during SBS in the newborn. Twenty-one neonates who underwent small bowel resection (of variable length) for various reasons (necrotizing enterocolitis, intestinal atresia, meconium peritonitis, cloacal extrophy, etc) were studied. Eight neonates had SBS, defined as a small bowel remnant of less than 50% of the original small bowel length related to gestational age. The mean remaining small bowel length in the SBS group was 34% (24% to 42%). The non-SBS control group consisted of 13 neonates who had only minor small bowel resections. The mean remaining bowel length for the non-SBS group was 95% (70% to 100%). The results show that the total fractional excretion of FA (FE-FA) at 2 weeks and 1, 2, 3, and 4 months postsurgery was 51% ± 37%, 33% ± 24%, 51% ± 65%, 53% ± 27%, and 7% ± 2% in patients with SBS, versus 12% ± 8%, 24% ± 10%, 9% ± 3%, 8% ± 3% and 17% ± 14% in the non-SBS controls, respectively ( P < .05 by ANOVA). There appeared to be an amelioration in time in FA absorption, especially in the SBS group, after 3 months. FE-FA was chain-length related, being considerably less for C10 and C12 than for C14 and longer amounts. An amelioration of absorption occurred in the SBS patients, especially with the longer-chain FA. On the basis of the study data, the authors conclude that in the initial adaptation phase shorter chain lengths are better absorbed than longer chain lengths; however, in the latter FA group, substantial adaptation occurs with time.

Foam Bilayers from Amniotic Fluid: Formation and Phase State

The temperature effect on the threshold dilution (e.g., threshold concentration) for formation of foam bilayers (Newton black films) from amniotic fluid is investigated. Samples of amniotic fluid are collected during the 39th gestation week. Microscopic foam films are formed from diluted amniotic fluid and studied interferometrically by the method of Scheludko and Exerowa within the temperature range 10−30 °C. The threshold dilution is determined from the experimental dependence of the probability for observation of foam bilayer on the dilution for each sample at different temperatures. It is shown that the threshold dilution is inversely proportional to the threshold concentration for formation of foam bilayer. This parameter is crucial for assessment of the risk for respiratory distress syndrome in newborns. The binding energy Q of a lipid molecule in the foam bilayer is calculated from the Arrhenius dependence of the threshold dilution applying the hole−nucleation theory of bilayer stability. The so-obtained values of Q for the various samples are very close to each other and vary from 5.3 × 10-20 to 9.4 × 10-20 J (about 13−22 kT), which indicates that in all cases the foam bilayers are in the liquid-crystalline state. Comparison is made with the phase states of dipalmitoylphosphatidylcholine foam bilayers.

P.33 Fecal fatty acid excretion in short bowel syndrome in newborns

P.33 Fecal fatty acid excretion in short bowel syndrome in newborns

Cocaine, Pregnancy, and the Growing Child

Substance abuse is not a new phenomenon. In the 1930s in the United States, there were epidemics of cocaine and alcohol abuse. In the 1960s and 197Os, marijuana, alcohol, and heroin were the most commonly abused drugs. However, the thalidomide tragedy of the 1960s gave rise to serious concerns that any substances a pregnant woman ingested could have a potential impact on her developing fetus. In the early 197Os, the modern description of the fetal alcohol syndrome’ turned clinicians’ attention to recreational drugs a woman might use during gestation, and this was soon followed by the description of the neonatal abstinence syndrome in newborns undergoing withdrawal from their mothers’ use of opiates, especially heroin, during pregnancy.2 The emergence of cocaine in the early 1980s as a drug of choice among large portions of the US population marked a new era in perinatal medicine, for here was a drug that was viewed as safe and nonaddictive and did not need to be injected, all of which made it very attractive to

Methadone in pregnancy: clinical-toxicological aspects.

The authors describe their experience with methadone treatment in pregnancy. Thirteen abuser pregnant women were studied under defined obstetrical and toxicological protocol. Newborns were also included in this study. In some cases a complete adherence to therapeutic program, allowing labour under very low methadone dosage (5 mg/day), minimized toxicological neonatal risk. Withdrawal syndrome in newborns was well controlled pharmacologically. The role of the toxicological laboratory during clinical management of drug dependent pregnant women is also discussed.

Fetal lung maturity assessed by fluorescence polarization: evaluation of predictive value, correction for endogenous fluorescence, and comparison with L/S ratio.

The steady-state polarization (or anisotropy) of the fluorescent dye 1,6-diphenyl-1,3-5-hexatriene in amniotic fluid samples and the lecithin/sphingomyelin ratio of the samples were correlated with development of respiratory distress syndrome in newborns. We found that clinical samples have a variable endogenous fluorescence that reduces the observed polarization (or anisotropy). This background is a major interference in the assessment of fetal lung maturity by the polarization method. Correction for this interference, by also measuring the blank fluorescence and anisotropy of the sample, provides a clinical tool with a lower coefficient of variation than that of the more time-consuming lecithin/sphingomyelin ratio. The clinical correlation for 17 cases of respiratory distress syndrome in a high-risk population (60 births; twins counted as a single birth) indicates that the two methods are equivalent for predicting immature fetal lung status.

Procoagulant Activity of Tracheal and Hypopharyngeal Aspirates and the Diagnosis of Respiratory Distress Syndrome in Newborns

Procoagulant Activity of Tracheal and Hypopharyngeal Aspirates and the Diagnosis of Respiratory Distress Syndrome in Newborns

Dry necrosis of the buttocks with sciatic nerve paralysis in newborns

This syndrome in newborns is insufficiently studied. The first descriptions of it appeared in 1949. The English doctor Mills (1949) observed 8 newborns with this pathology. The labor was long, all the children were born in asphyxia, and all were injected into the umbilical cord vessels immediately after birth with nekelmamide, a synthetic drug that excites the respiratory center and the cardiovascular system. According to Mills, paralysis and circulatory disorders are associated with thrombosis of the inferior episodic artery, which feeds the sciatic nerve and the corresponding area of the skin of the gluteal region. Later, similar cases were described by Hudson and co-authors, San Augustine, T. N. Dorofeeva, V. L. Zubkova and V. A. Tabolin.

Narcotic withdrawal syndrome in newborns.

A case of narcotic withdrawal syndrome is reported, perhaps the first such case recorded in India.

A CONVULSIVE SYNDROME IN NEWBORN FOALS RESEMBLING PULMONARY SYNDROME IN THE NEWBORN INFANT

A CONVULSIVE SYNDROME IN NEWBORN FOALS RESEMBLING PULMONARY SYNDROME IN THE NEWBORN INFANT

Guillain‐Barré's Syndrome Associated with Poliomyelitis in Newborn

SummaryTwo cases of Guillain‐Barré's syndrome in newborns with, probable poliomyelitis are reported. The infants were 10 and 8 days old. Both were afebrile, had general flaecidity with tetraplegia and initially the cerebrospinal fluid showed marked albu‐minocytologic dissociation. The mother of the first had typical poliomyelitis, starting on the day of delivery. This boy recovered completely. The other developed residual paralysis characteristic of poliomyelitis. A survey of the well documented cases of poliomyelitis in infants under two weeks of age reveals that general flaecidity and elevated cerebrospinal protein levels seem to be the rule rather than an exception. Different possibilities for this phenomenon are discussed.