Case Of Neonate Research Articles

A case of a syndromic preterm neonate in a “can ventilate, can’t intubate” condition: Guedel airway to the rescue!

Introduction: Upper airway distress associated with craniofacial anomaly has been reported widely. An antenatal scan of craniofacial anomaly should alert the attending team to prepare for respiratory distress in any neonate following delivery. Additionally, a stepwise algorithm is imperative to manage the difficult airway in children with craniofacial anomalies. Aim: To outline a case of difficult airway in a newborn with a craniofacial anomaly. Case study: A premature neonate, born at 36 weeks, was referred to the otorhinolaryngology team following the failure of intubation. Guedel oropharyngeal airway was inserted, and temporarily airway was managed with non-invasive ventilation. However, tracheostomy was subsequently performed, while the neonate was ventilated via face mask. Discussion and conclusion: Prompt management is of dire importance in handling a newborn with craniofacial anomaly in respiratory distress. Guedel oropharyngeal airway is a temporary measure used to secure the airway, while tracheostomy is performed.

MORBIDITY PATTERN OF SMALL FOR GESTATIONAL AGE BABIES ADMITTED IN A NEONATAL CARE UNIT

Background: The neonatal period of the small for gestational age (SGA) neonates is the most vulnerable phase; the neonatal morbid conditions along with the mortality being the major health issues in the developing countries like Nepal. The objective of this study was to assess the morbidity pattern of the SGA neonates admitted in the neonatal intensive care unit. Methods: A hospital base cross-sectional study was carried out in 100 SGA neonates admitted in the neonatal care unit of College of Medical Sciences Teaching Hospital, Bharatpur, Nepal from May 2020 to April 2021 Small for gestational age neonates (SGA) was defined as birth weight <10th percentile for gestational age by Lubchenco’s growth chart. Infant characteristics and neonatal outcomes were assessed during the hospital stay and the data was entered in the SPSS v23.0. Results: Among the total 100 cases of SGA neonates, 66 % were male. The mean birth weight was 1900 ±SD 381gm (range 1000-2500 gm). Term SGA neonates accounted for 60% while preterm SGA neonates were 40%. Common morbidities seen in SGA neonates were sepsis (44%), hyperbilirubinemia (34%), perinatal depression/birth asphyxia (34%) and shock (22%). While comparing the morbidities between term and preterm neonates, a significant correlation was observed between hypothermia (p-value = 0.001), polycythemia (p-value = 0.001), NEC (p-value= 0.004) and perinatal depression/asphyxia (0.013) with the period of gestation. Mortality was observed in 8% due to various perinatal problems. Conclusions: From this study, we can conclude that SGA is associated with various morbidities, sepsis being the most common morbidity amongst perinatal asphyxia, hyperbilirubinemia, hypothermia and hypoglycemia.

Nomogram for predicting fulminant necrotizing enterocolitis

BackgroundFulminant necrotizing enterocolitis (FNEC) is the most serious subtype of NEC and has a high mortality rate and a high incidence of sequelae. Onset prediction can help in the establishment of a customized treatment strategy. This study aimed to develop and evaluate a predictive nomogram for FNEC.MethodsWe conducted a retrospective observation to study the clinical data of neonates diagnosed with NEC (Bell stage ≥ IIB). Neonates were divided into the FNEC and NEC groups. A multivariate logistic regression model was used to construct the nomogram model. The performance of the nomogram was assessed using area under the curve, calibration analysis, and decision curve analysis.ResultsA total of 206 neonate cases were included, among which 40 (19.4%) fulfilled the definition of FNEC. The identified predictors were assisted ventilation after NEC onset; shock at NEC onset; feeding volumes before NEC onset; neutrophil counts on the day of NEC onset; and neutrophil, lymphocyte, and monocyte counts on day 1 after NEC onset. The nomogram exhibited good discrimination, with an area under the receiver operating characteristic curve of 0.884 (95% CI 0.825–0.943). The predictive model was well calibrated. Decision curve analysis confirmed the clinical usefulness of this nomogram.ConclusionA nomogram with a potentially effective application was developed to facilitate the individualized prediction of FNEC, with the hope of providing further direction for the early diagnosis of FNEC and timing of intervention.

Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing

BackgroundPleuropulmonary blastoma (PPB) is a rare mesenchymal malignancy of the lung and is the most common pulmonary malignancy in infants and children. Cystic PPB, the earliest form of PPB occurring from birth to approximately two years of age, is often mistaken for a congenital pulmonary airway malformation, as the two entities can be difficult to distinguish on imaging and pathology. Diagnosis of PPB should prompt workup for DICER1 syndrome, an autosomal dominant tumor predisposition syndrome. We report a newborn with a congenital PPB presenting with tachypnea and hypoxia, who was found to have variant of uncertain clinical significance (VUS) in DICER1.Case presentationA term female infant developed respiratory distress shortly after birth. Initial imaging was concerning for a congenital pulmonary airway malformation versus congenital diaphragmatic hernia, and she was transferred to a quaternary neonatal intensive care unit for management and workup. Chest CT angiography demonstrated a macrocytic multicystic lesion within the right lower lobe without systemic arterial supply. The pediatric surgery team was consulted, and the neonate underwent right lower lobectomy. Pathology revealed a type I PPB. Oncology and genetics consultants recommended observation without chemotherapy and single gene sequencing of DICER1, which identified a germline VUS in DICER1 predicted to alter splicing. RNA-sequencing from blood demonstrated that the variant resulted in an in-frame deletion of 29 amino acids in a majority of transcripts from the affected allele. Due to the patient’s young age at presentation and high clinical suspicion for DICER1 syndrome, tumor surveillance was initiated. Renal and pelvic ultrasonography were unremarkable.ConclusionWe present the case of a term neonate with respiratory distress and cystic lung mass, found to have a type I PPB with a germline VUS in DICER1 that likely increased her risk of DICER1-related tumors. Nearly 70% of patients with PPB demonstrate germline mutations in DICER1. Review of RNA sequencing data demonstrates the difficulty in classifying splice variants such as this. Penetrance is low, and many patients with pathogenic DICER1 variants do not develop a malignancy. Best practice surgical and oncologic recommendations include an individualized approach and tumor board discussion. This case highlights the importance of a multidisciplinary team approach and the utility of international registries for patients with rare diagnoses.

Generalized Infantile Myofibromatosis with Extensive Small Bowel Involvement in a Neonate.

Infantile myofibromatosis is a rare benign congenital tumour that often regresses spontaneously but may pose therapeutic challenges in its widespread visceral form. We present the case of a full-term neonate with generalized infantile myofibromatosis including ubiquitous subcutaneous and muscular nodules, a tumour in the mastoid and disseminated intestinal involvement. The intestinal tumours led to a mechanical ileus with intestinal perforation within the first days of life. After partial small bowel resection and necessary proximal jejunostomy the boy was dependent on total parenteral nutrition. Chemotherapy with vinblastine and methotrexate was started and was temporarily supplemented with imatinib. Feeding stayed impossible despite tumour shrinkage. At the age of 4.5 months, restoration of intestinal continuity with further stricturoplasties was performed which - for the first time - allowed complete oral feeding. Chemotherapy was continued for further two months. Currently, the child is in good general condition with growth and further disease regression. This report suggests that massive visceral involvement of infantile myofibromatosis may require extensive intestinal surgery, as conservative therapy cannot resolve the disease and its sequelae.

Evaluation of hemogram parameters in neonatal diarrhoeic calves with and without gastrointestinal protozoa infections

Objective: The aim of this study was to compare the hemogram analysis results of neonatal diarrheal calves with and without gastrointestinal protozoa infection.
 Materials and Methods: A total of 21 neonatal calves with diarrhoea were examined within the scope of the study. A total of 21 neonatal calves with diarrhoea were examined within the scope of the study. Eleven of the cases were calves with gastrointestinal protozoa infection and 10 were calves without gastrointestinal protozoa infection. Demographic, clinical, and laboratory data of calves were evaluated.
 Results: When demographic data and vital signs were evaluated between the two groups, no statistically significant difference was found between the two groups (p>0.05). However, when the hemogram values between the two groups were compared, it was determined that there was a significant difference in white blood cell (p=0.003) and neutrophil (p=0.01) numbers.
 Conclusions: Evaluating hemogram parameters should be taken into account as it is an inexpensive and easy-to-apply analysis and offers important outputs in the control and follow-up of neonatal calf health especially in neonatal calf diarrhoea cases which is one of the common diseases.

Symptomatic COVID-19 in Pregnancy: Hospital Cohort Data between May 2020 and April 2021, Risk Factors and Medicolegal Implications.

Pregnancy does not appear to increase susceptibility to SARS-CoV-2 infection, but some physiological changes, such as the reduction of residual functional volumes, elevation of the diaphragm, and impaired cellular immunity, may increase the risk of severe disease and result in a higher risk of complications. The article's primary objective is to evaluate the factors associated with symptomatic COVID-19 disease in pregnancy. The secondary objective is to describe maternal and neonatal outcomes and cases of vertical transmission of the infection. All pregnant women hospitalized with SARS-CoV2 infection were included in a prospective study in the UOC of Obstetrics and Gynecology, AOOR Villa Sofia-Cervello, Palermo, between May 2020 and April 2021. The patients who requested the termination of the pregnancy according to Law 194/78 were excluded. We included 165 pregnancies with a total number of 134 deliveries. Overall, 88.5% of the patients were asymptomatic at the time of admission and 11.5% were symptomatic. Of them, 1.8% of the patients required hospital admission in the intensive care unit. Symptoms occurrences were positively associated with the increase in maternal BMI (OR 1.17; p = 0.002), the prematurity (OR 4.71; p = 0.022), and at a lower birth weight (OR 0.99; p = 0.007). One infant tested positive for SARS-CoV2 nasopharyngeal swab; 11.4% of newborns had IgG anti SARS-CoV2 at birth; IgM was positive in 2.4% of newborns. There was no difference statistically significant difference in the vertical transmission of the infection among the group of symptomatic pregnant women and that of asymptomatic pregnant women.

Successful management of severe hypertriglyceridemia in a neonate with apolipoprotein A deficiency; a case report with literature review

Introduction: Reports regarding severe neonatal hypertriglyceridemia are scarce, and there is no consensus regarding its management. This report describes the successful management of a neonatal case of hypertriglyceridemia managed successfully. Case report: A 2-day-old male neonate born to consanguineous parents presented with yellow skin discoloration. The mother had moderate hypertriglyceridemia. While testing for jaundice, the neonate’s blood was noticed to be milky. Blood lipid profile test showed highly elevated triglyceride (1,000-10,000 mg/dl), very-low-density lipoprotein level (1,800 mg/dl), and low-density lipoprotein (206 mg/dl) levels, and a low level of high-density lipoprotein (12 mg/dl). Further laboratory diagnosis revealed apolipoprotein A1 deficiency (39 mg/dl). The patient was put on a statin tablet of 0.25 mg twice daily and a formula diet (Monogen – Nutricia) low in triglycerides and rich in medium-chain triglycerides, and was given 1 ml Omega-3 syrup twice daily. After a dramatic decline in serum level, he was put on a 50% medium-chain-triglyceride formula and Gemfibrozil triglyceride-lowering agent. Conclusion: Early diagnosis of severe hypertriglyceridemia in the neonatal period aids in the early initiation of treatment and prevention of severe complications. Conservative treatment via dietary modifications and supplementation can be associated with satisfactory outcomes.

Breaking Free from Your Fetal Chains: A Case-Based Review of the Literature on Gamma Chain Variant Hemoglobinopathies

Methemoglobinemia is a dyshemoglobinemia characterized by cyanosis and reduced oxygen saturation with increased methemoglobin values. The etiology may be congenital or acquired, with the latter being more common. We report a case of a full-term neonate who presented with transient cyanosis and methemoglobinemia caused by a mutation in the gamma chain of fetal hemoglobin.

Multiple congenital anomalies-hypotonia-seizures syndrome 3 secondary to phosphatidylinositol glycan class T mutation: a neonatal case report

Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) is caused by genetic defects in glycosyl-phosphatidylinositol transamidase complex synthesis due to mutations in the PIGT gene. The disease encompasses dysmorphism, cardiac, genito-urinary and skeletal anomalies, developmental delay and epilepsy in variable severity. Only 39 such cases have been reported till date in literature. We reported the first Indian case with neonatal presentation and overall the sixth case of MCAHS3 to present in neonatal age. The pro-band was a male baby born to non-consanguineous parents. He had perinatal depression, craniofacial dysmorphism, epileptic encephalopathy, left radio-ulnar congenital fractures and respiratory failure managed with multiple anti-epileptics, invasive ventilation and limb splinting. Clinical exome sequencing revealed an autosomal recessive homozygous PIGT gene mutation on exon 6 of chromosome 20 with a variant nomenclature of C.709G>C with heterozygous parents confirming MCAHS3. This report expands the range of information available on MCAHS3. It highlights the need to elaborately investigate dysmorphic newborns with severe hypotonia along with the described neurological symptoms, so as to pin point this potentially diagnosable entity.

A randomised comparative study of induction of labour with sublingual misoprostol 50 μg and oral misoprostol 50 μg in term patients

Background: Current study was conducted to compare the efficacy of tab Misoprostol 50 microgram by oral and sublingual routes for induction of labour. Methods: A randomised comparative study of induction of labour in 200 cases of pregnant women at term and were divided into two groups of 100 each for 50 µg Misoprostol for oral and sublingual route repeated 4 hourly either by sublingual or oral route until an adequate contraction pattern set in (establishment of 3 uterine contractions in a period of 10 minutes) or once the cervical dilatation reaches 4 cm, maximum up to 6 doses. The patients were monitored for maternal vital signs, progress of labour and foetal heart rate. Results: In this study, 86% women delivered vaginally with sublingual misoprostol while 76% were delivered vaginally with oral administration. In the present study, no significant maternal side effects were noted in either group. 4% cases of neonates in sublingual group and 6% cases of neonates in oral group required NICU admission. No still birth or neonatal deaths were seen. Conclusions: Our study shows that sublingual Misoprostol has better efficacy, shorter induction to delivery interval, requirement of fewer doses of misoprostol when compared to oral route.

STUDY OF LABORATORY PARAMETERS IN NEONATAL JAUNDICE

Introduction: Neonatal hyperbilirubinemia with a total serum bilirubin level above 5mg/dL is one of the most vexing situations in neonates thereby becoming a concern for pediatricians. It is observed during the rst week of life in full-term infants and preterm infants. It results from a predisposition to the production of bilirubin in newborns infants and reects the immature excretory pathway of bilirubin by the liver. Preterm infants have higher rates of bilirubin production. This retrospective study considered 150 cases of term and pre-term neonates w Materials And Methods: ith jaundice within one week of diagnosis of neonatal jaundice (NNJ). The blood group of the mother and baby, Serum bilirubin, Complete blood count with peripheral smear examination, Reticulocyte count, Direct coomb's test, and C-reactive protein of the baby were done. The mean age of the neonates was 2 days. 76 (50.66 %) were male while 74 Results: (49.33) were females. Percentage of Preterm babies was 30%. Neonates having low birth weight were 31 %. Physiological jaundice constitutes to 58 % of cases followed by ABO incompatibility Septicaemia, Rh incompatibility. Highest level of serum bilirubin was found in septicemia and Rh incompatibility. Direct Coomb's test and Indirect Coomb's test were found to be positive in all cases in Rh incompatibility while they were positive in 27 % of cases of ABO incompatibility. In cases of septicemia CRP was found to be positive in 100% of cases. Most of the cases were due to physiological jaundice. To rule out hemolys Conclusion: is, causes of hyperbilirubinemia should be enquired widely to avoid complications

A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.

Isolated ACTH deficiency (IAD) is a life-threatening condition, particularly in the neonatal period, while a main consequence of undiagnosed isolated ACTH deficiency in survivors is cognitive impairment. TBX19 is involved in the differentiation and proliferation of corticotropic cells and TBX19 mutations are responsible for more than 60% of neonatal cases of IAD. We describe a new variant of the main TBX19 transcript (NM 005149.3, c.840del (p.(Glu280Asp fs*27)), classified as pathogenic, whose pathogenicity is assumed to be due to nonsense mediated decay leading to non-expression of T-box transcription factor TBX19. Moreover we summarize the TBX19 mutations published as individual cases since our last large cohort. Interestingly, this pathogenic variant was identified in four patients from three apparently unrelated families. Two of these families were consanguineous, and after investigations all of three were discovered to have roots in the same mountainous region of northern Morocco, suggesting a founder effect. Early diagnosis, timely treatment (hydrocortisone therapy) and preventive education allowed normal development, growth and quality of life in all patients.

Perinatal Transmission of Dengue Infection in a Neonate Presenting as Dengue Shock Syndrome

Dengue infection in perinatal period is associated with many maternal as well as neonatal complications. Vertical transmission of dengue has many complications in neonates too including shock and bleeding. Here we report a case of term neonate born to a dengue positive mother and developed dengue shock syndrome on day 3 of life with good outcome.

Primary Acalvaria an Orphan Disease: Case Report and Review of Literature

Abstract Acalvaria is a very rare congenital anomaly; thus, it is considered to be an orphan disease and is characterized by complete or partial absence of flat calvaria bones, lax skull, dura mater, and associated muscles. In this report, we describe a case of female neonate with primary acalvaria finding on neuroimaging associated with cleft palate.

DIC-like syndrome in a post-pre-eclampsia birth in a premature infant in a peri-COVID scenario

Abstract Objectives This article outlines an unusual presentation of a premature infant born from a pre-eclamptic mother born with a presentation resembling a disseminated intravascular coagulation syndrome. Case presentation Pregnancy-induced hypertension, also known as pre-eclampsia, and premature birth pose significant risks to neonates, making the fetus more susceptible to immunodeficiencies and coagulopathies. This article highlights a premature infant born to a pre-eclamptic mother with multiple complications. Our case involved jaundice, neonatal meningitis, thrombocytopenia, leukopenia, neutropenia, hemorrhage, apnea, gastrointestinal defects, and periventricular leukomalacia. Often these complications are seen immediately after birth; these symptoms may present after a certain amount of time lapses if the neonates if afflicted with malignancy or a viral, fungal, or bacterial infection. Here we describe the case of a premature neonate born to a preeclamptic mother that experienced these complications one day after her birth. Conclusions This is the first known case of an infant experiencing a “DIC-like” syndrome without any diagnosis of a primary hematological malignancy or infection after a certain amount of time had lapsed since her birth. As complications in premature infants as well as those from pre-eclamptic mothers are common, this case report highlights a successful model of care. We also explore the effect of a peri-COVID setting on the presentation of this patient, as similar cases have occurred post-COVID-19.

Galaktozemi: Atlanmaması Gereken Neonatal Sarılık Nedeni

A case representing neonatal jaundice that includes direct and indirect hyperbilirubinemia was diagnosed with classical galactosemia. Even though she was initially approached as a neonatal sepsis case, after the cessation of her milk consumption, jaundice resolved, and the diagnosis was made and supported by additional diagnostic tools. It has been shared to emphasize the importance of assessment and urgent management of the disease during the neonatal period.

Postpartum Neonatal Disseminated Herpes Simplex Virus-1 Infection in Which Herpes Simplex Virus-1 Was Detected in Mother's Breast Milk.

A 17-d-old girl was diagnosed with disseminated herpes simplex virus-1 infection-associated hemophagocytic lymphohistiocytosis. The virus was detected in the neonate's blood and mandible. The neonate was treated with dexamethasone and acyclovir and discharged without neurological sequelae. The mother had no history of a herpes simplex virus-1 infection and did not have visible genital herpetic lesions; moreover, the neonate was delivered via an elective cesarean section. However, the day before the delivery, the mother had met with the neonate's grandmother, who had herpes labialis. Viral DNA was detected in bilateral breast milk samples; however, no superficial herpetic lesions were noted on both breasts. The authors speculated that the neonate may have acquired the infection via contaminated breast milk. Thus far, only one neonatal case of this infection contracted via breast milk has been reported. Further studies on breast milk as a transmission route for these infections are required.

Factors associated with infection and mortality in neonates following abdominal surgery

Background The outcomes of neonatal surgical cases has steadily improved in the last decade. However, limited local data are available in Indonesia regarding the contributing factors and outcomes of surgical procedures in neonates.
 Objective To determine the incidence of infection and mortality in neonatal surgical cases in Saiful Anwar Hospital, Malang, East Java, Indonesia.
 Methods This retrospective cohort study included neonates who underwent abdominal surgery over a period of 20 months from January 2021 to August 2022. Data collected included subjects’ basic demographics, primary surgical diagnoses, associated congenital anomalies, pre-operative conditions, and referral status. These parameters were analyzed in relation to the incidence of infection and mortality in the 30 days after surgical procedure.
 Results Of fifty-four neonates in this study, the most common neonatal surgical conditions were anorectal malformation, followed by necrotizing enterocolitis and Hirschsprung’s disease. The mortality rate at 30 days was 48%. The most common associated factors were sepsis (OR 0.778; 95%CI 0.233 to -1.167; P=0.041), pre-operative respiratory failure/hemodynamic instability (OR 2.129; 95%CI 1.039 to 3.126; P<0.001), and delayed referral (OR 0.295; 95%CI 0.074 to 1.177; P=0.048). Other factors such as age at presentation, gender, gestational age, birth weight, referral patient vs. those born in our hospital, associated congenital anomalies, and emergency procedures were not associated with mortality. The survival time in the sepsis group [17.30 (1.68-13.98) days] was significantly lower than in the non-sepsis group [25.95 (1.63-22.76) days] (P< 0.001).
 Conclusion Sepsis, pre-operative respiratory failure/hemodynamic instability, and delayed referral are risk factors for mortality in neonates following abdominal surgery. Identification of these risk factors and early intervention are important to improve outcomes.

Relationship between antibiotic consumption pattern and antibiotic resistance in neonatal sepsis.

Inappropriate use of antibiotics may increase antimicrobial resistance (AMR) among different microorganisms and may lead to treatment failure in neonatal septicemia. The aim of this study was to recognize the most common microorganisms responsible for neonatal sepsis and to evaluate the trend of change of resistance pattern among microorganisms. This study was done retrospectively on 344 cases diagnosed with neonatal sepsis, including both early and late onset cases, admitted to the tertiary care teaching hospital of southern India from January 2012 to July 2017. Accordingly, 231 culture positive neonatal sepsis cases were collected from hospital data base and analyzed. Culture positive cases within 72 hours of life were termed as early onset while after 72 hours were late onset. Antibiotics utilization during the period was calculated using WHO AMC tool and reported as (DDD)/100 bed days. Klebsiella pneumoniae with 56 (21.8%) and Coagulase negative Staphylococcus with 52 (20.2%) cases were the most frequent isolated organisms which were responsible for 55.8% and 14.6% of deaths among the study subjects respectively. Amikacin (86.7%), vancomycin (52.3%) and ampicillin (40.6%) were the most used antibiotics in terms of DDD/100 bed days. The results obtained from our study have brought substantial information on the antibiotic resistance pattern among microorganisms causing neonatal sepsis. Moreover, results obtained from this study can be used for designing antibiotic stewardship policies to prevent the emergence of resistance and to improve the treatment outcome.