The missing umbilical artery – A case report

Single umbilical artery (SUA) is a condition where one umbilical artery exists. Normally, the umbilical artery contains two umbilical artery and one umbilical vein. The incidence of SUA varies from 0.2% to 0.8%. We present a case of SUA in a term baby with birth weight of 1.7kg delivered by a 28-year-old mother. SUA is a condition which must be kept in mind during histopathological examination since it helps in improving the neonatal and maternal care.

Detective Fictions: The ‘baby-farming detective’ in Britain, 1867–97

This article examines a series of investigations into the activities of women engaged in the provision of paid childcare and collectively labelled with the term ‘baby-farmer’. This paper looks at the practice of writers representing themselves as ‘baby-farming detectives’. Along with exploring the use of the detective investigation as a stylistic device, it will contend that the strictures it imposed informed the relationship these writers have with paid child-carers. The article also explores how the notion of ‘detectives’ and ‘suspects’ spoke of an assumed right to subject working-class women to inspection. It concludes that these detective fantasies were ultimately unsuccessful as they were unable to solve either the cases they encountered, or the symbolic problem of baby-farming, leaving these narratives curiously unresolved and their writers impotent. This article not only seeks to explain how and why the link between pecuniary childcare and infant murder was forged and maintained but asserts that this narrative technique has wider implications for scholars of nineteenth-century culture.

Treatment of a Neonatal Peripheral Intravenous Infiltration/Extravasation (PIVIE) Injury With Hyaluronidase: A Case Report

Highlights Abstract Introduction: Intravenous therapy-related injury, its prevention, and treatment are ubiquitous topics of interest among neonatal clinicians and practitioners. This is due to the economic costs, reputational censure, and patents’ wellbeing concerns coupled with the possibility of potentially avoidable serious and life-long harm occurring in this vulnerable patient population. Case description: A term infant receiving a hypertonic dextrose infusion for the management of hypoglycemia developed a fulminating extravasation shortly after commencement of the infusion. This complication developed without notification of infusion pump pressure changes pertaining to a change in blood vessel compliance or early warning of infiltration by the optical sensor site monitoring technology (ivWatch®) in use. The injury was extensive and treated with a hyaluronidase/saline mix subcutaneously injected into the extravasation site using established techniques. Over a period of 2 weeks, the initially deep wound healed successfully without further incident, and the infant was discharged home without evident cosmetic scarring or functional effects. Conclusion: This article reports on a case of a term baby who postroutine insertion of a peripherally intravenous catheter showed an extreme reaction to extravasation of the administered intravenous fluids. We discuss the condition, our successful management with hyaluronidase, and the need to remain observationally vigilant of intravenous infusions despite the advances in infusion monitoring technology.

Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances

Potocki-Lupski syndrome (PTLS) is a contiguous gene syndrome caused by duplication of chromosome 17p11.2. PTLS is characterized by hypotonia, failure to thrive, congenital anomalies (particularly of the cardiovascular system), intellectual disability, and behavioural disturbances. The patient was a full-term baby girl, 2,750 grams at birth, delivered via an uncomplicated vaginal delivery with pronounced hypotonia at birth. Nevertheless, there was failure to thrive (weight 7.6 kg; 2.8 SD). Micrognathia, epicanthal skin folds, and megalocornea were noticeable. There was a harsh continuous systolic murmur, and the ultrasound of the heart revealed a persistent arteriosus duct which was surgically closed. At the age of 18 months, the girl could not sit without support, and she could not utter simple words. The girl is often moody, angry, and aggressive. She is hyperactive and unable to establish contacts with family members. A 17p12-p11.2 microduplication was identified via MLPA. Muscle hypotonia, congenital heart malformation, failure to thrive, developmental delay, behavioural disturbances (or autism spectrum disorder), and intellectual disability are early signs of PTLS. The presence of PTLS was proven by an MLPA analysis.

Pharmacokinetics of Baclofen in a Full-Term Newborn after Intrauterine Exposure: A Case Report

Intrauterine exposure to baclofen can lead to syndrome of withdrawal during the first days of the newborn. We report the case of a full-term baby exposed to baclofen during pregnancy. The mother was treated with baclofen 10 mg 4 times daily. Blood samples were collected from the mother before entering labor and from the baby at H0, H11, H31, and H102 after birth to measure baclofen concentrations and monitor its elimination. Baclofen maternal and neonate pharmacokinetics (PK) and placental transfer were assessed using a physiologically based PK model. Baclofen PK in the neonate after birth followed a monoexponential elimination with a half-life of 10 h, 3-fold longer than that in adults. The newborn was monitored for 11 days without experiencing any symptoms of withdrawal. Reducing baclofen dosing regimen of the mother to the lowest and therefore reducing fetal exposure to baclofen is essential. This case reports for the first time the baclofen pharmacokinetic profile in a newborn.

Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy

INTRODUCTION: Hereditary myosin myopathies are muscle disorders caused by mutations in myosin heavy chain genes. The MYH2 gene encodes the fast 2A skeletal muscle isoform, and mutations manifest as joint contractures, muscle weakness, and external ophthalmoplegia. Muscle biopsy shows decreased type 2A fibers, and vacuoles are sometimes present in adults with progressive disease. PRESENTATION OF CASE: This case describes a full term baby boy with hypotonia, dysmorphic features, dysphagia, and aspiration. Whole genome sequencing detected a novel heterozygous variant in the MYH2 gene. Muscle biopsy showed decreased type 2A fibers and vacuoles in myofibers. DISCUSSION: Hypotonia and dysphagia are common in infants with a MYH2 myopathy. However, dysmorphic features and vacuoles on biopsy have not previous been described in infants with MYH2 myopathies. CONCLUSION: This case reports an unusual phenotype of a rare neonatal-onset congenital myopathy associated with a novel heterozygous variant in MYH2.

Expanding the Phenotype of Molybdenum Cofactor Deficiency in Neonates: Report of Two Cases

Molybdenum cofactor deficiency (MoCD) is a rare neurometabolic disorder characterized by intractable seizures, progressive microcephaly, tone abnormalities, facial dysmorphism, and feeding difficulties in the neonatal period. We present two different neonatal cases of MoCD with atypical presentations which could have been easily missed. One is a preterm baby admitted with features of sepsis, poor perfusion, and seizures who later developed tone abnormalities and feeding difficulty. The second is a term baby who presented with stridor, respiratory distress, and metabolic acidosis followed by intractable seizures and encephalopathy. Both babies had characteristic radiological and biochemical findings, and genome sequencing identified mutations in MOCS2 and MOCS1 genes, respectively. MoCD presenting as hypoxic-ischemic encephalopathy and cerebral palsy are well described, but its presentation in preterm with “sepsis-like features with drug-responsive seizures” in the early newborn period is not described, and can also cause unnecessary delay in the diagnosis. Its clinical presentation with “stridor, respiratory distress, and metabolic acidosis” is also described for the first time in literature.

Jarcho-Levin syndrome term baby with recurrent apnea

Jarcho-Levin syndrome or spondylocostal dysostosis, is a rare axial skeleton anomaly due to mutation in genes involved in somitic segmentation during embryogenesis. We describe a term, newborn baby with antenatally detected midthoracic lordotic deformity with skeletal features of multiple rib anomalies and vertebral defects, but with normal limb lengths. Baby had recurrent apnea requiring non-invasive ventilation and was successfully weaned to room air within 2 days. This syndrome is underdiagnosed and we wish to highlight the simple process involved in making a clinico-radiological diagnosis.

AB0086 PREGNANCY OUTCOMES IN SYSTEMIC LUPUS ERYTEMATOSUS (SLE)

Background:There’s no doubt that SLE has negative effect not only on the course of pregnancy, but also on maternal and fetal outcomes.Objectives:To clarify pregnancy outcomes in patients with SLE by means of retrospective analysis.Methods:The study group included 12 women with SLE aged 20-40 years, and the control group - 15 age-matching healthy women. SLE diagnosis was established based on the EULAR/ACR classification criteria, 2019. The SLEDAI 2K was used to evaluate disease activity, and the SLICC index – to evaluate damage. Completed by all women issue-specific questionnaire covered clinical symptoms of SLE and details of obstetric history (characteristics of menstrual and reproductive function, presence of genital and extragenital pathology, previous pregnancies outcomes; previous intrauterine interventions, a history of coagulopathy).Results:SLE patients’ mean age was 33.5 [29;38] years, and control group subjects’ - 32.0 [26;35] years. Mean disease duration was 11.5 [2.8;18] years. Acute, subacute and chronic SLE was established in 33%, 17%, and 50%, respectively. Disease activity according to SLEDAI 2K was low in 25%, moderate – in 33%, and high – in 42% of pts. The SLICC damage baseline evaluation: no damage – 17%, low – 50%, medium – 16.5%, high-16.5%. Past pregnancies were documented in 7 out of 12 SLE patients and 6 healthy subjects from the control group.Table 1.Pregnancy outcomesPregnancy, nSLE, n=16Control, n=15pBirth9 (56,3%)13 (87%)0,00Abortion2 (12,5%)00,00Unfavorable pregnancy outcome5 (31,2%)2 (13%)0,00Missed miscarriage4 (25%)00,00Spontaneous abortion1 (6%)2 (13%)nsSpontaneous vaginal delivery of a full-term baby was documented in both groups. Unfavorable pregnancy outcomes were significantly more frequent in SLE pts (31% vs 13% in the control group, p= 0.001). Two SLE pts after cyclophosphane therapy (10.6 and 18.4 g cumulative dose) and low AMH levels (< 1 ng/ml) failed to become pregnant, although never used contraception.Analysis of gynecological history indicate that episodes of menstrual disorders were significantly more often reported in SLE pts (50% vs 20% in controls, p=0.001), similarly, gynecological diseases were also documented in 50% of SLE pts (chronic salpyngo-oophoritis, colpitis, endometriosis and uterine endometrioma, subserous uterine myoma, cervical dysplasia, cervical erosion), meanwhile low AMH was found only in 4 SLE pts; there was only 1 subject with gynecological condition – teratoma of the ovaries – in the control group (favorable outcome – surgical removal, preserved fertility and two births after surgery).Conclusion:The incidence of unfavorable pregnancy outcomes is significantly higher in patients with SLE compared to the control group of healthy women.Disclosure of Interests:None declared

Successful Early Treatment of Severe Neonatal Hyperparathyroidism With Cinacalcet

Introduction: Neonatal severe hyperaparathyroidism (NSHPT) can cause significant bone disease early in life and prompt treatment is therefore necessary. Cinacalcet is a calcimimetic primarily used in adult patients with hypercalcemia to treat secondary hyperparathyroidism, but has only been trialed in neonates with NSHPT. Successful treatment appears to be dependent on the mutation leading to hypercalcemia. We describe a neonate born with severe hypercalcemia and a suspected mutation of the calcium sensing receptor (CaSR) who received successful early treatment with cinacalcet and decrease in calcium levels. Case Report: A full-term baby girl was found to have rapid breathing at 2.5 hours of life requiring CPAP. A chest x-ray demonstrated bone demineralization with rib fractures. Lab evaluation demonstrated hypercalcemia (total calcium = 12 mg/dl) with an inappropriately elevated PTH level of 386 pg/mL, hypophosphatemia (3.3 mg/dL), normal magnesium (2.0 mg/dL), a normal urine calcium to creatinine ratio of 0.26 and calcium to creatinine clearance ratio of 0.05 and a slightly low vitamin D-25 of 28.8 ng/mL. The father had a history of asymptomatic hypercalcemia without a diagnosis. Paternal genetic testing identified a heterozygous pathogenic CASR defect: c. 554G&gt;A (p.Arg185Gln). This has been described in patients with NSHPT. The patient was initially treated with IV fluids and Lasix, but calcium levels did not decrease. Cinacalcet therapy was given on day of life 10. Patient had a decreased PTH to 231 pg/ mL after one day. After 26 days of treatment, patient’s PTH level decreased to 63 pg/mL. Patient was weaned off of CPAP and was discharged home. Discussion: Cinacalcet, a calcimimetic that works at the level of the CASR, was able to successfully and significantly decrease PTH levels in a neonate patient with NSHPT. Treatment options are limited in patients with this condition and we believe prompt treatment with this therapy facilitated patient’s discharge. The patient’s osteopenia secondary to the NSHPT and subsequent rib fractures resulted in a prolonged requirement of CPAP. Early recognition and treatment, even prior to results of genetic testing, prevented further fractures. We demonstrate the potential benefit of calcimimetics in a case of NSHPT where conventional treatment was ineffective. More importantly, we anticipate improvement in osteopenia and any future comorbidities secondary to this condition. Continued success with this treatment is yet to be evaluated.