Background :-
Acute peritoneal dialysis (APD) is a modality for renal replacement as well as renal support therapy for neonates both for renal and non renal indications. Getting a vascular access for performing blood based dialysis is a major challenge in this age group.

Objective :-
To evaluate the indications, complications and outcomes of acute peritoneal dialysis in newborns at Sir Ganga Ram Hospital, New Delhi, India.

Methods :-
This retrospective analysis included newborns who underwent APD in intensive care unit between 2011 and 2022. Demographic, clinical and laboratory data were extracted from patients' medical files.

Result :-
A total of 75 neonates were included in the study of which 26% were preterms. Indications for initiation of acute peritoneal dialysis was mainly acute kidney injury (44%) followed by dyselectrolytemia, fluid overload and hyperammonemia. The most common primary diagnosis in these children was sepsis (31%) followed by congenital heart disease (27%). The types of peritoneal dialysis catheters used were soft Tenckhoff (67%) and rigid catheter (33%). Most common complication encountered was peritonitis. 50 percent of the neonates were successfully discharged.

Conclusion:-
Peritoneal dialysis is a safe and effective modality for renal replacement therapy in the neonatal period for both renal and non renal indications.

Background
Congenital pulmonary airway malformations (CPAM) represent a spectrum of anomalies. We aimed to identify cases at our hospital and review management.

Methods
We performed an e-chart review of pregnancies referred to fetal assessment unit (FAU) with fetuses with suspected CPAM and the subsequent live-born infants over 5-years; contacting parents for follow-up information.

Results
Between 2018-2022, 24 fetuses were referred to FAU with suspected CPAM identified on ultrasound. Fetal MRI was performed in 19 (79%) cases. MRI was suggestive of CPAM in 7 (37%) cases, bronchopulmonary sequestration in 5 (26%), bronchial atresia spectrum in 4 (21%), and bronchogenic cyst in 1 (5%); 2 (11%) were diagnosed with congenital diaphragmatic hernia and not included in follow-up. Intra-uterine demise, associated with hydrops, occurred in 2 cases.
For the 20 surviving fetuses, the mean (SD) GA was 39 (1) weeks. Twelve (60%) infants were admitted to the neonatal unit; 2 were intubated - 1 with cardiac anomaly and 1 undergoing therapeutic hypothermia; 2 required non-invasive respiratory support. All had a chest x-ray – in 13 (65%) this was in keeping with the antenatal findings. All were referred to respiratory and/or cardiothoracic surgery.
We obtained longer-term data for 16 infants; 15 (93%) had a CT thorax at 6-18 months; another is planned. Five (31%) infants with ongoing respiratory symptoms had a lobectomy; symptoms resolved for all following surgery The remaining 11 (69%) infants remain asymptomatic.

Conclusion
Most infants with congenital lung lesions were asymptomatic after birth. Those with ongoing respiratory symptoms underwent surgical intervention.

Case History:
A near-term infant was born at 36 weeks and 4 days’ gestation. Birth weight was 2.7 kg just below 75th centile.
Baby required resuscitation, intubation and ventilation. No history of diabetes in pregnancy.
Blood gas at 45 minutes of age showed pH 7.3, pCO2 5.6, HCO3 19.9, BE -5.4, Glucose <1
Dextrose 10% bolus at 2.5 ml/kg was administered followed by Dextrose 10% infusion at 60 ml/kg/day. IV Benzylpenicillin and Gentamicin were also administered.
Dextrose 10% infusion has to be increased to 90ml/kg/day as glucose was low at 2 hours of age.

Investigations and further management:
The results of the hypoglycaemia screen were as detailed below.
Insulin levels were 91 pmol/L. Cortisol levels were 143 nmol/L. Growth hormone levels were 14 ng/ml. Ammonia was 47 micromol/L. Genetic tests showed no ABCC8 or KCNJ11 abnormality. These results confirmed hyperinsulinism.
Glucagon was used initially at 10mcg/kg/hour. Chlorothiazide was used at 5mg/kg/day in 2 divided doses. Octreotide 1mcg/kg 4 hourly. In addition, 2.5% polycal was used.
Diazoxide was commenced after 1 month.


Discussion:
We present a case of a newborn infant with neonatal hypoglycaemia secondary to transient hyperinsulinism.
Blood glucose remained stable on a combination of chlorothiazide and diazoxide.


There are several risk factors for neonatal hypoglycaemia where monitoring blood glucose is required.


Transient hyperinsulinism rarely presents as a challenging cause of neonatal hypoglycaemia.
Awareness of this as a cause of hypoglycaemia, arranging appropriate investigations, referrals and commencing on appropriate treatment regimen is crucial to ensure a good outcome.

Background:

Adverse neurodevelopmental outcomes for infants born moderately or late preterm are well described in the literature. This Cohort has approximately double the risk for neurodevelopmental disability when compared to term infants.The development of a departmental guideline for Neurodevelopmental follow-up for this population in a large tertiary maternity hospital could potentially have a significant impact on public health. For term babies, additional risk factors for poor developmental outcomes have been identified, such as HIE and hypoglycaemia.

Objective:

To establish the current trend of Neurodevelopmental follow up of low risk neonates (≥1.5kg or ≥32 weeks gestation) admitted to a Tertiary Hospital NICU.

Methods:

This was a retrospective chart review of 50 “low risk” neonates defined as > 32 weeks gestation and birthweight >1.5kgs admitted to NICU during a one month period. As well as demographical data, detailed outpatient follow up was collected.

Results:

Term babies were just as likely as preterms to receive at least one outpatient appointment. However the majority seen for a third appointment were preterm (75%). Two preterm babies did not receive outpatient follow up.

Conclusions/Discussion:

Babies with moderate prematurity or delivered at term and admitted with hypoglycaemia or birth-related injuries received closer follow up with an average of three outpatient appointments. However these cohorts are typically discharged early from neonatal follow up services. . A targeted developmental program at 6 weeks, 3 months and 9 months may optimise timing of follow up without the burden of additional appointments.

Background: Clinical experience has shown that annual seasons affect the onset and severity of neonatal hyperbilirubinemia. There is no consensus regarding the influence of the season of birth on the risk of developing neonatal jaundice.
Objective: To establish the role of annual seasons for the manifestation of neonatal jaundice (NJ) in full-term newborns (NB).
Material: The study covering 566 NBs, patients of the University Hospital Medica Ruse Ltd. Bilirubin(BR) was measured by a transcutaneous bilirubinometer KJ-8000 from the first to the fifth day, on the Day14 and Day 28.
Results: A significant difference in the levels of total BR was found depending on the birth season for the period Day 2 - Day5. Children born in summer have the highest average levels of BR, followed by those in spring. The lowest values have those born in autumn. On the Day 28, NB born in the spring have significantly high levels of BR. In the NB group with prolonged NJ, the highest levels of BR on Day 28 were born in summer. This group also had the longest NJ appearance.
Conclusion: According to our results, the season of birth affects the frequency, degree of manifestation and duration of hyperbilirubinemia in full-term newborns.

Background
Noonan Syndrome (NS) is a rare disease with an estimated prevalence of 1 in 1,000-2,500. It has a wide phenotype typically associated with skeletal malformations, cardiac defects and dysmorphism. Haematological disorders are also present in an estimated 20% of cases. Noonan Syndrome/Myeloproliferative Disorder (NS/MD) is a self-limiting disorder that manifests as leucoerythroblastosis in the neonatal period.

Objective
We describe a case of Noonan Syndrome/Myeloproliferative Disorder with no other features of Noonan Syndrome during the neonatal period. The similarity in presentation to Juvenile Myelomonocytic Leukaemia (JMML) presented a diagnostic dilemma with large prognostic differences between the diseases.

Methods
Our patient is a dichorionic diamniotic twin 1 delivered at 37 weeks, birth weight 2.2kg. Admission to the neonatal unit was due to hypoglycaemia and suspected IUGR with bruising noted. A full blood count (FBC) showed thrombocytopenia (Platelets: 35.1x109/L). Follow-up FBCs showed progressive leukocytosis (WBC: 31.5x109/L) with leucoerythroblastosis with 2% blast cells. These results were consistent with the presentation of JMML. Bone marrow aspirate cytomorphology results were consistent with myeloproliferation or JMML. Mutations in PTPN11 resulted in a positive JMML genetic panel. Germline PTPN11 testing confirmed the diagnosis of NS. Given this reassuring result, a watch-and-wait management approach was taken and improvement of leucocytosis confirmed the diagnosis. Twin 2’s neonatal course and subsequent development has been unremarkable.

Conclusion
This rare case demonstrated that NS/MD and JMML can be extremely challenging to differentiate and a thorough work-up is essential. Correct diagnosis is vital to guide management and to correctly manage family members' expectations.

Background
We describe the case of a patient diagnosed at birth with TARP (talipes equinovarus, atrial septal defect, Robin sequence, persistent left superior vena cava) syndrome using whole exome sequencing (WES). TARP Syndrome is a rare x-linked disease with 26 cases previously identified in the literature. Our patient displayed a splicing mutation c.2295+1G>A in the RBM10 gene with previously unreported phenotypical features (high Alpha Fetoprotein (AFP), hyperbilirubinaemia and severe neonatal thrombocytopaenia).

Objective
We aim to assess previously described characteristics of TARP syndrome in comparison to our patient with the addition of unique aspects of our case. We will highlight the positive outcomes in our case in contrast to previous reports.

Methods
Review of publications to date showed the frequency of minor, major and additional features. We also compared mutation types (splice site, frameshift, nonsense, missense and in-frame deletion) with outcomes (survival > or < 18 months).

Results
Of 26 cases described in the literature 9 patients survived beyond 18 months. No other cases have documented high AFP, hyperbilirubinemia or thrombocytopaenia during the neonatal period.
All 3 cases attributable to splicing mutation showed survival beyond 18 months. All 7 cases due to nonsense mutations were fatal before this cut off.

Conclusion
TARP Syndrome is a rare, heterogenic disease with significant contrast between reports to date. In recent years there has been increased positive outcomes. Prognostically, improved outcomes appear more common in splice site, missense and in-frame deletions.

Background:
Neonatal thyroid-stimulating hormone (TSH) screening for congenital hypothyroidism used as an indicator of iodine deficiency and of its control.

Objective:
To estimate the iodine deficiency and the effectiveness of iodine prophylaxis in Krasnoyarsk territory according the results of neonatal TSH screening.

Methods:
An analysis of neonatal TSH screening was performed in 14560 newborns. The TSH concentration was measured in dry blood spots collected by heel stick on filter paper, 96 hours after birth, using DELFIA method.

Results:
In different regions of Krasnoyarsk territory the rate of neonatal TSH < 5 mU/1 varied from 1.4% in central districts to 16.5% in Arctic Taimyrskiy region and 36.5% in northern Evenkiyskiy region. In Krasnoyarsk city the rate of TSH < 5 mU/1 was 7.7%. These results indicate mild and moderate iodine deficiency.

Conclusion:
Analysis of the congenital hypothyroidism screening show mild iodine deficiency in central part of Krasnoyarsk territory. In northern regions saved moderate iodine deficiency. This demand continuous adequate iodine prophylaxis to prevent cognitive and psychomotor outcomes.

References:
1. Osokina I. Iodine Deficiency in Central Siberia, Russia. Acta Scientific Nutritional Health. 2019. Т. 3. № 10. С. 127-129.
2. Osokina I.V. Iodine Deficiency in Central Siberia. Exploring, prevention and monitoring. Palmarium academic publishing, Germany. 2013: 1–234.
3. Osokina I.V., Manchouk V.T. Iodine deficiency disorders in Siberia. Novosibirsk, Science. 2012: 1–153.
4. Osokina Irina V. "Epidemiological and Immunogenetic Peculiarities of Type 1 Diabetes and Iodine Deficiency Disorders in Central Siberia". PhD thesis. Moscow, 2002: 1- 289 p.

BACKGROUND: Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene (incidence <1/1000000) and appearing in the first months of life with delayed physical growth and steatorrhea.
OBJECTIVE: To present a newborn with abetalipoproteinemia
METHODS: A male, full-term neonate was born by normal labor. The family’s first child, a male newborn, was identified with abetalipoproteinemia (heterozygous form). Now, he is 7 years old and healthy. The second child was a male newborn, with abetalipoproteinemia. During the second year of life, he died from a respiratory infection. The third child was a healthy, male newborn, without abetalipoproteinemia. The present newborn's first examination was normal. Initially, he was fed with Alfare milk, then with formula and showed insufficient weight gain, without vomiting or diarrheal stools, while he was in good general condition and hemodynamically stable. No infections was approved. Thyroid function test was normal. Other laboratory tests: Chol:55mg/dl, HDL:51mg/dl,
LDL:2 mg/dl, TRIG:30mg/dl, ApoA :76mg/dl (normal range: 104-202mg/dl), ApoB:12mg/dl (normal range:66-13312mg/dl), LpA:1,1, 25(OH):11,6ng/dl, Vit A:normal, Vit E: normal. Genetic testing was ordered & feeding with special milk, high in MCT, and low in HCT started. At the same time he received vit. D 1200IU/d, MVW: 0.5 ml/d. Brain ultrasound, ophthalmological, audiological examination were normal.
RESULTS: Molecular testing detected a homozygous mutation in the MTP gene, NM_000253c.1813T>C, p.(Tyr605His).
CONCLUSION; Prognosis of abetalipoproteinemia varies. Early diagnosis and strict adherence to a diet contribute to the recovery of normal nerve function, halting disease progression

Background:
The neonatal mortality rate is an indicator of the quality of the infant and mothers care. In developing countries, it is found that there is a high rate of neonatal death, as a result, it is necessary to develop the assessment a high risk neonate.

Objective:
To determine the prediction model on neonatal mortality

Methods:
A prognostic prediction study with clinical prediction score was developed. All patients were admitted in Songkhla’s neonatal unit from January 2020 to December 2022, were included. Multivariable logistic regression was analyzed for significant predictors. The logistic coefficients were transformed to risk-based scoring system. Predictive performance was internally validated using bootstrapping techniques.

Results:
A total of 392 newborns were analyzed. Out of those 33 (8.4%) neonates died within 28 days while 359 (91.6%) survived. Birth weight, 5-min Apgar score, hypothermia at admission, intubation and shock within 24 hours of age were used for the scoring system. The score-based model showed area under ROC of 0.93 (95%CI 0.89-0.98). The scoring system ranged from 0 to 31.5 was classified into 2 subcategories for clinical practicability. At score >17, sensitivity, specificity and positive predictive value were 90.3%, 88.7% and 41.2% (95%CI 29.3, 53.8), respectively.

Conclusion:
The established scores are able to be used to monitor high risk of neonatal death, accommodate close infant care, and conduct treatment plan for neonatologists. In addition, it could be used together with primary prediction of sickness for parents.