Neonatal Mass Research Articles

Multifocal haemangioma with extracutaneous involvement associated with hypergalactosaemia

Neonatal haemangiomatosis, characterized by multiple haemangiomas, is a rare disease that develops during the neonatal period with or without visceral involvement. We report a 1-month-old Japanese boy with multifocal haemangiomas with extracutaneous involvement. A haemangioma on his left lower eyelid, present at birth, increased in size during the first postnatal month and more lesions developed during the same period. Neonatal mass screening showed hypergalactosaemia. Laboratory investigations found raised total bile acid and ammonia. Computed tomography and abdominal ultrasonography studies showed multiple hepatic haemangiomas and intrahepatic portovenous shunts. The child's cutaneous and hepatic haemangiomas disappeared spontaneously with normalization of laboratory data, and galactose accumulation improved with the feeding of lactose-free milk. There were no complications and the child has had no recurrence of the symptoms. Our case implies a possible association of multiple haemangioma and hypergalactosaemia, suggesting the necessity for visceral investigation.

Index of Suspicion in the Nursery

A 4-day-old term female infant is being evaluated for fever, with a rectal temperature of 100.9°F (38.2°C), and an episode of oxygen desaturation to 70% while breathing room air. The mother reports that the infant had increasing fussiness. Prenatal care and delivery were within normal parameters. She denies use of illicit drugs and is unsure of her group B Streptococcus status. The infant has eight to nine wet diapers and about 10 bowel movements per day. She consumes 1 to 2 oz of regular infant formula every 3 hours. The only finding of note on physical examination is the fever. Her neck is supple and has no abnormalities. A full sepsis evaluation is performed, including a complete blood count and blood, urine, and cerebrospinal fluid cultures. Respiratory syncytial virus antigen and influenza test results are negative. Radiographs of the chest and lungs appear normal. The infant is admitted and treatment with ampicillin and cefotaxime is begun. Thirteen hours later, the infant develops respiratory distress manifesting with stridor and desaturation while breathing room air. Physical examination at this time reveals a new cystic, moveable mass on the anterior triangle of her neck. Follow-up radiograph of the neck shows displacement of the trachea to the right. An 80% helium/20% oxygen mixture is started in the pediatric intensive care unit. Computed tomography (CT) scan of the neck and chest shows a 4.0×2.5-cm cystic lesion with an air-fluid level located in the anterior triangle of her neck slightly to the left of midline (Fig. 1). Thyroid study results are normal. Surgical removal of the cyst and histologic evaluation lead to the diagnosis. Figure 1. Computed tomography scan showing a cystic lesion with an air-fluid level in the anterior triangle of the neck. ### Hospital Course The patient was taken to the operating room the next day for neck exploration. …

Regulation of muscle growth in neonates

This review reports recent findings on the multiple factors that regulate skeletal muscle growth in neonates. Skeletal muscle is the fastest growing protein mass in neonates. The high rate of neonatal muscle growth is due to accelerated rates of protein synthesis accompanied by the rapid accumulation of muscle nuclei. Feeding profoundly stimulates muscle protein synthesis in neonates and the response decreases with age. The feeding-induced stimulation of muscle protein synthesis is modulated by enhanced sensitivity to the postprandial rise in insulin and amino acids. Insulin and amino acid signaling components have been identified that are involved in the feeding-induced stimulation of protein synthesis in neonatal muscle. The enhanced activation of these signaling components in skeletal muscle of the neonate contributes to the high rate of muscle protein synthesis and rapid gain in muscle protein mass in neonates. Recent findings suggest that the immature muscle has a heightened capacity to activate signaling cascades that promote translation initiation in response to the postprandial rise in insulin and amino acids thereby enabling their efficient utilization for muscle growth. This capacity is further supported by enhanced satellite cell proliferation, but how these two processes are linked remains to be established.

H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency

Neonatal mass screening for congenital adrenal hyperplasia (CAH) has been performed in Japan since 1989. Steroid 21-hydroxylase deficiency (21-OHD) represents about 95% of CAH patients and is traditionally divided into three forms, severe classical salt-wasting (SW), simple virilizing (SV) and the milder non-classical (NC) form. Very rare cases of the NC form have been detected because of elevated 17-hydroxyprogesterone (17-OHP) levels at neonatal mass screening in Japan (1). The estimated rate of detection of the NC form by mass screening seems to be low (1:1,100,000) (1). This disease is caused by deletions or mutations of CYP21A2. In Japan, the P30L mutation appears more likely to be associated with Japanese NC patients (1). Here, we report a rare H62L mutation with the NC form in a Japanese 21-OHD patient.

Imaging of urinary system in neonates

In neonates the most common indication for an imaging procedure is the follow-up of an abnormality detected during antenatal sonography. With its noninvasiveness, wide availability, and ease of use without the risks associated with ionizing radiation exposure, ultrasound is an excellent imaging modality for initial evaluation of a suspected neonatal abdominal mass. When a mass is present, the sonographic features and the clinical presentation along with the age of the patient can help pursue a focused differential diagnosis in most cases. In some cases, ultrasound may even facilitate a definitive diagnosis without the necessity of additional imaging studies. VCUG, the second most common neonatal urinary tract imaging procedure, is used to evaluate lower urinary tract anatomy. It can be used to distinguish obstructive from nonobstructive hydronephrosis, vesicoureteral reflux, bladder tumors, and ureteroceles.

Diagnosis of adrenocortical tumor in a neonate by detection of elevated blood 17-hydroxyprogesterone measured as a routine neonatal screening for congenital adrenal hyperplasia: a case report

We report herein a case of prenatally detected neonatal adrenocortical tumor (ACT). The patient was an otherwise healthy newborn girl. No signs of Beckwith-Wiedemann syndrome were identified, and her family medical history did not suggest predisposition to cancer. Computed tomography and ultrasonography after birth revealed a round solid tumor 40 mm in diameter in the right suprarenal area. The precise diagnosis of ACT was unexpectedly obtained based on results from the Japanese neonatal mass screening program. Blood 17-hydroxyprogesterone is routinely measured as a part of this program for early detection of congenital adrenal hyperplasia in Japan. Abnormally elevated level of 17-hydroxyprogesterone was reported in the patient and, thus, led to the diagnosis of ACT. Surgical resection was safely performed with perioperative steroid replacement. Adrenocortical tumors are extremely rare in childhood, particularly in the neonatal period. Some of these tumors secrete abnormally high levels of cortisol, suppressing function of the contralateral adrenal gland and, thus, leading to life-threatening postoperative adrenal insufficiency. Scheduled steroid replacement enables safe perioperative management in such cases. Adrenocortical tumor should always be considered among the differential diagnoses for neonatal suprarenal mass because precise diagnosis will enable the physician to develop appropriate treatment strategies.

Congenital cystic choristoma mimicking cervical lymphangioma

Abstract Choristoma is a tissue or mass with a normal histology at an abnormal location, and cystic choristoma has rarely been reported in the head and neck region. Cervical cystic masses in neonates are usually diagnosed as cystic lymphangioma. The authors present a case of a congenital laterocervical cystic mass that appeared to be lymphangioma, but which turned out to be a cystic choristoma.

Evolution of Placentation in Primates: Implications of Mammalian Phylogeny

Primates are quite unique among placental mammals in that the two extreme types of placentation are present within a single order. Strepsirrhines (lemurs and lorisiforms) have non-invasive epitheliochorial placentation, whereas haplorhines (tarsiers and higher primates) have highly invasive haemochorial placentation. Resemblance in placenta type in fact provided the first evidence that tarsiers are linked to higher primates and distinct from lemurs and lorisiforms. Tree-shrews differ from both primate subgroups in having moderately invasive endotheliochorial placentation, while colugos have invasive haemochorial placentation like haplorhines. All three kinds of placentation have been identified as primitive for placentals by different authors, but until recently the prevailing interpretation has been that non-invasive epitheliochorial placentation is primitive and “less efficient”. Opposing this interpretation, Martin (Primate origins and evolution: a phylogenetic reconstruction, 1990) proposed that moderately invasive endotheliochorial placentation is primitive. Epitheliochorial placentation is unlikely to be primitive because it is predominantly associated with large body size, relatively long gestation periods and precocial offspring. Furthermore, some strepsirrhines and other placental mammals with epitheliochorial placentation retain indications of former invasiveness of the placenta. The recent availability of comprehensive molecular phylogenies for placental mammals has provided an independent framework to determine the most parsimonious interpretation of the evolution of placenta types and other reproductive features. It has consistently emerged that epitheliochorial placentation is best explained as a derived condition, although opinions differ as to whether the ancestral condition for placental mammals (and hence for primates) was endotheliochorial or haemochorial. It is argued that on balance the most likely ancestral condition is endotheliochorial. Comparative evidence across placentals clearly indicates that epitheliochorial placentation is not less efficient than more invasive forms of placentation, at least with respect to growth in overall fetal body mass. The ratio of neonate mass to gestation period (a simple indicator of average daily maternal investment in fetal growth) shows no difference according to placenta type. Differential evolution of placentation is hence presumably linked to immunological factors, parent/offspring conflict and/or genomic imprinting.

Impact of maternal body mass index on neonate birthweight and body composition

The purpose of this study was to compare bodyweight and composition (percent fat, fat mass, and fat-free mass) in neonates born to mothers with a normal pregravid body mass index (BMI; < 25 kg/m(2)) vs neonates born to mothers with an overweight/obese pregravid BMI (> or = 25 kg/m(2)). Seventy-two neonates (33 from normal mothers and 39 from overweight/obese mothers) of singleton pregnancies with normal glucose tolerance had their bodyweight and body composition assessed by air-displacement plethysmography. After controlling for neonate age at time of testing, significant differences were found between groups for percent fat (12.5 +/- 4.2% vs 13.6 +/- 4.3%; P < or = .0001), fat mass (414.1 +/- 264.2 vs 448.3 +/- 262.2 g; P < or = .05), and fat-free mass (3310.5 +/- 344.6 vs 3162.2 +/- 343.4 g; P < or = .05), with no significant differences between birth length (50.7 +/- 2.6 vs 49.6 +/- 2.6 cm; P = .08) or birthweight (3433.0 +/- 396.3 vs 3368.0 +/- 399.6 g; P = .44). Neonates born to mothers who have a normal BMI have significantly less total and relative fat and more fat-free mass than neonates born to overweight/obese mothers. Although preliminary, these data suggest that the antecedents of future disease risk (eg, cardiovascular disease, diabetes, and obesity) occur early in life.

The Association between the FTO Gene and Fat Mass in Humans Develops by the Postnatal Age of Two Weeks

Little is known about the genetic determinants of fat mass around birth. We hypothesized that the common rs9939609 single-nucleotide polymorphism (SNP) in FTO is associated with fat mass and metabolic parameters in neonates. We conducted a cross-sectional, hospital-based study. Patients included 234 full-term, healthy newborns [122 girls and 112 boys; gestational age (mean, range), 39.0 (37.0-42.0) wk; birth weight, 3.2 (1.9-4.2) kg]. Cord-blood insulin, IGF-I, IGF-binding protein-1, adiponectin, and visfatin were measured by specific immunoassays. Body composition was assessed by dual-energy x-ray absorptiometry at about 13 d (range, 9-20 d). Genotyping of rs9939609 was achieved by restriction fragment length polymorphism analysis. The rs9939609 SNP in FTO was not associated with birth weight; however, it was associated with serum visfatin (P < 0.001), with weight and ponderal index at age 2 wk (P < 0.05), and with total, truncal, and abdominal fat (P < 0.05 to P = 0.01), so that AA homozygotes had 37% higher plasma visfatin concentration and 17, 20, and 17% higher total, truncal, and abdominal fat mass, respectively, than T-carrier neonates. Our findings support a role of the common rs9939609 SNP in FTO gene in the early stages of fat accretion in humans and disclose novel associations between this SNP and both serum visfatin and abdominal fat mass in neonates.

Scaling of offspring number and mass to plant and animal size: model and meta-analysis

The scaling of reproductive parameters to body size is important for understanding ecological and evolutionary patterns. Here, we derived allometric relationships for the number and mass of seeds, eggs and neonates from an existing model on population production. In a separate meta-analysis, we collected 79 empirical regressions on offspring mass and number covering different taxa and various habitats. The literature review served as a validation of the model, whereas, vice versa, consistency of isolated regressions with each other and related ecological quantities was checked with the model. The total offspring mass delivered in a reproductive event scaled to adult size with slopes in the range of about 3/4 to 1. Exponents for individual seed, egg and neonate mass varied around 1/2 for most heterotherms and between 3/4 and 1 for most homeotherms. The scaling of the progeny number released in a sowing, clutch or litter was opposite to that of their size. The linear regressions fitted into a triangular envelope where maximum offspring mass is limited by the size of the adult. Minimum seed and egg size scaled with weight exponents of approximately 0 up to 1/4. These patterns can be explained by the influence of parents on the fate of their offspring, covering the continuum of r-strategists (pelagic–aquatic, arial, most invertebrates, heterotherms) and K-strategists (littoral–terrestrial, some invertebrates, homeotherms).

Congenital solid neck mass: a unique presentation of Langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) presenting in the neonatal period is very rare. In most cases, a self-limited cutaneous disease is the exclusive manifestation. We report an unusual case of neonatal LCH presenting with a large congenital solid neck mass without skin lesions. LCH should be considered in the differential diagnosis of solid masses in neonates and prompt physicians to search for visceral organ involvement.

Congenital Branchial Apparatus Malformation in a Haflinger Colt

To report the diagnosis and treatment of a branchial apparatus anomaly (BAA) associated with a mandibular malformation in a foal. Clinical report. Haflinger foal. A 6-day-old foal had a fluctuating cystic mass in the pharyngeal (throatlatch) region, which changed in appearance after ingestion of milk. Upper airway endoscopy and diagnostic imaging (ultrasonography, radiography, computed tomography) permitted identification of the anatomic location of a communicating tract between the lumen of the cystic mass and the pharynx. The mass was surgically removed and communication with the pharynx ligated. Histologic appearance of this mass was consistent with a branchial cyst or sinus. The mandibular malformation was managed conservatively. Surgical resection of a third branchial sinus resulted in an excellent functional and cosmetic outcome. There was no evidence of any mandibular deformity 2 years later. BAA may induce secondary mandibular deformation in utero and may cause respiratory compromise postpartum. Careful surgical dissection and removal of BAA resulted in an excellent outcome. BAAs should be included in the differential diagnosis of a throatlatch region mass in equine neonates. Complete surgical excision is recommended and full recovery of any associated mandibular deformity may be anticipated without additional treatment in very young patients.

Clinical Course of Patients with Nonclassical 21-hydroxylase Deficiency (21-OHD) Diagnosed in Infancy and Childhood

We report four cases of nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in neonate or early childhood. The four patients comprised a 6-year, 5-month-old male (case 1); a 3-year, 10-month-old female (case 2); a 13-year, 11-month-old female (case 3) and a 17-year, 1-month-old male (case 4). Cases 3 and 4 were siblings. None had any signs of virilization or salt wasting at birth. 21-OHD was diagnosed using ACTH loading test and other adrenal steroid evaluations. Mutations of the CYP21 gene were detected in all patients. Three patients (cases 1, 3 and 4) had positive results in neonatal mass screening. Cases 1 and 2 showed no apparent signs of virilization and were observed without conventional treatment. In cases 3 and 4, because of increased growth velocity and accelerated bone maturation, hydrocortisone administration was initiated from their late infantile period. In spite of hydrocortisone treatment, in case 4, the final height of 159.7 cm was less than his predicted final height. Besides he revealed adrenal insufficiency at the age of 9 years and 2 months old caused by viral infection. Hydrocortisone supplementation therapy may cause adrenal insufficiency in nonclassical patients due to suppression of the hypothalamus-pituitary-adrenal axis. The clinical courses in these cases were various, and it was difficult to predict the appearance of any symptoms of virilization. Careful observation is necessary.

Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria

Purpose :Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of Korean patients with MMA and PA. Methods :This study examined 12 patients with MMA and eight with PA. We analyzed various clinical features, laboratory findings, treatments, and neuro-developmental outcomes. Diagnoses were based on the presence of characteristic compounds detected by amino acid analysis in serum and organic acid analysis in urine. Mutation analysis was performed in the genes of MUT, MMAA, MMAB, and MMACHC for MMA and PCCA and PCCB for PA. Results :Among the 20 patients, six patients were diagnosed before one month of age and nine patients were diagnosed after the newborn period. Five patients were diagnosed via a neonatal screening test. Patients with early-onset forms had more severe illness at presentation and generally poor outcomes. A favorable outcome was obtained in 55% patients; most of them were of a late-onset type or diagnosed by neonatal mass screening test without symptoms. Genotypes were confirmed in all patients with MMA. We detected 11 different mutations by MUT gene analysis in 10 patients, and three different muta- tions in MMACHC genes in two patients. PCCA and PCCB gene mutations were identified in 14 of the 16 alleles, in eight patients with PA. Conclusion :Organic aciduria is a fatal disease; however, better outcomes are expected whenever early diagnosis and prompt management are made possible. Mutation analysis is useful for confirming diagnoses and planning management strategies. (Korean J Pediatr 2008;51:964-970)

Effects of waterborne uranium on survival, growth, reproduction and physiological processes of the freshwater cladoceran Daphnia magna

Acute uranium toxicity (48 h immobilisation test) for Daphnia magna was determined in two different exposure media, differing in pH and alkalinity. LC 50 varied strongly between media, from 390 ± 40 μg L −1 U at pH 7 to 7.8 ± 3.2 mg L −1 U at pH 8. According to the free ion activity model uranium toxicity varies as a function of free uranyl concentration. This assumption was examined by calculating uranium speciation in our water conditions and in those reported in the literature. Predicted changes in free uranyl concentration could not solely explain observed differences in toxicity, which might be due to a competition or a non-competitive inhibition of H + for uranium transport and/or the involvement of other bioavailable chemical species of uranium. Chronic effects of uranium at pH 7 on mortality, ingestion and respiration, fecundity and dry mass of females, eggs and neonates were investigated during 21-day exposure experiments. A mortality of 10% was observed at 100 μg L −1 U and EC 10 for reproduction was 14 ± 7 μg L −1 U. Scope for growth was affected through a reduction in feeding activity and an increase in oxygen consumption at 25 μg L −1 U after 7 days of exposure. This had strong consequences for somatic growth and reproduction, which decreased, respectively, by 50% and 65% at 50 μg L −1 U after 7 days and at 25 μg L −1 U after 21 days. Uranium bioaccumulation was quantified and associated internal alpha dose rates from 2.1 to 13 μGy h −1 were estimated. Compared to the toxicity of other alpha-emitting radionuclides and stable trace metals, our results confirmed the general assumption that uranium chemical toxicity predominates over its radiotoxicity.

Relationship of basal metabolism and life history attributes in Neotomine—Peromyscine rodents (Cricetidae: Neotominae)

With the exception of a positive relationship between energy expenditure and number of offspring per litter, few links have been made between energy expenditure and life history attributes in mammals. The purpose of this study was to examine relationships between basal metabolic rate (BMR) and life history attributes among 26 species within the Neotomine-Peromyscine rodents. Specifically, I used independent contrasts to determine whether variation in BMR is related to variation in life history attributes that represent reproductive effort and maturation, and I determined if there is an offspring size versus offspring number trade-off. My results demonstrate that within the Neotomine-Peromyscine rodents, 1) there exists an offspring number versus offspring size trade-off whereby taxa that have a large residual number of offspring per litter have a small residual neonate mass, 2) BMR is related to this trade-off whereby taxa that have large residual BMR have small residual neonate mass and a trend towards a large number of offspring per litter, and 3) BMR is not related to total reproductive effort as represented by total litter mass, total weanling mass, or total growth rate of the litter from birth to weaning. My results suggest that high BMR facilitates a large number of small offspring per reproductive event. A large number of small offspring may confer a fitness advantage for taxa with compensatory growth mechanisms for weaned young that minimize fecundity trade-offs with small offspring size.

Effects of calcium availability on reproductive output of big brown bats

AbstractReproduction is a period of high calcium demand in vertebrates; therefore, calcium deficiency can limit reproductive output in mammals. Nutritional analyses show that insects are a poor calcium source, suggesting that insectivorous species are more likely to be calcium deficient. During pregnancy, big brown bats Eptesicus fuscus consume between 8 and 18 times less calcium than they are estimated to require. To accommodate calcium demand during pregnancy, many mammals mobilize more calcium from the skeleton, and extensive bone loss has been observed in some bats during pregnancy. A conflict may arise between the female and developing embryo over allocation of limited calcium supplies, which could limit reproductive output with respect to offspring size, mass and number. The effects of calcium deficiency on these three factors were tested by providing pregnant captive big brown bats with either a calcium‐deficient diet or a diet providing the daily calcium requirement, as estimated for pregnant big brown bats, from the time of capture until parturition. Neonates were compared between groups for size, mass and number per female, as were the effects of maternal mass and size on neonate mass and size. Maternal mass and litter mass were positively related for the calcium‐deficient group, but not for the calcium‐supplemented group. This suggests that there is some interaction between maternal mass and calcium availability, most likely due to the relationship between body mass and skeletal mass, and that calcium availability is limiting the overall biomass of young that a female can produce.

Genetic relatedness of mates does not predict patterns of parentage in North American red squirrels

Previously limited to laboratory studies, the deleterious effects of inbreeding are now being revealed in a number of wild systems. Female North American red squirrels, Tamiasciurus hudsonicus, show high levels of multimale mating and little to no overt precopulatory mate selection. We hypothesized that the negative repercussions of inbreeding should select for a female's ability to select sperm from more distantly related males. Consequently, successful sires should be less genetically related to the female than are unsuccessful males. We tested this hypothesis using both an analysis of absolute success among all copulating males and also relative success of sires within multiply sired litters. Pairwise genetic relatedness and paternity were determined through molecular analysis of tissue samples collected from reproductive females, copulating males and resultant offspring. In contrast to other systems, we found no evidence that the genetic similarity of mates predicts patterns of parentage in red squirrels. Genetic relatedness did not predict whether a copulating male would sire any offspring, and relative success of sires within multiply sired litters was unrelated to their relatedness to the dam of the litter. Furthermore, selection for inbreeding avoidance mechanisms may be minimal, as there were no observable negative fitness repercussions to inbreeding. We detected no relationship between the genetic relatedness of an offspring's parents and its neonatal mass, growth rate or survival to reproductive age. In red squirrels, we found no evidence of parentage patterns based on genetic similarity of mates, and this phenomenon may be less universal than previously thought.

Paraurethral Cysts in Female Newborns: Role of Maternal Estrogens

Paraurethral or Skene's duct cyst is a rare cause of introital mass in neonates. We report two female newborn cases with paraurethral cysts associated with vaginal bleeding and breast enlargement. These associations raise the question of whether maternal estrogens play a role in the development of paraurethral cysts.