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Session Overview
Session
08-PT-L-d2D: Poster Presentations Session 8 - Day 2 - Zone D
Time:
Friday, 02/Dec/2022:
5:00pm - 7:00pm

Location: Hall 4 (Postillion Hotel)


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Presentations
ID: 255 / 08-PT-L-d2D: 1
Poster Presentation (Onsite)
Topics: RARE DISEASES, ENDOCRINOLOGY
Keywords: SPINK1 mutation, morbid obesity, pancreatitis

Combined SPINK1 mutations induce early onset severe chronic pancreatitis in a morbidly obese child

Abass, Maha1; Al Shamsi, Aisha2; Jan, Iftikhar3,4; Yasin Masalawala, Mohammed Suhail5; Deeb, Asma1,4

1Paediatric Endocrinology Division, Sheikh Shakhbout Medical City, Abu Dhabi, UAE; 2Clinical Genetics Department, Tawam Hospital, Al Ain, UAE; 3Paediatric Surgery Division, Sheikh Shakhbout Medical City, Abu Dhabi, UAE; 4College of Medicine and Health Sciences, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.; 5Clinical Trial Unit, Sheikh Shakhbout Medical City, Abu Dhabi, UAE

BACKGROUND: The most frequent causes of pancreatitis classically have been known to be gallstones or alcohol. However, genetics can also play a key role in predisposing patients to both chronic and acute pancreatitis. The serine protease inhibitor Kazal type 1 (SPINK 1) gene is known to be strongly associated with pancreatitis. Patients with these underlying genetic mutations can have severe diseases with a high morbidity rate and frequent hospitalization.

CASE PRESENTATION SUMMARY: We report an Arab girl who presented with acute pancreatitis at the age of 7 years, progressing to recurrent chronic pancreatitis over a few years. She had severe obesity from the age of 4 years and developed type 2 diabetes at the age of 12. She had normal biliary system anatomy. Genetic analysis showed that she had combined heterozygous mutations in the SPINK1 gene (SPINK1, c.101A>G p.(Asn34Ser) and SPINK1, c.56-37T>C). Her parents were first-degree cousins, but neither had obesity. Mother was detected to have the same mutations. She had type 2 diabetes but never presented with pancreatitis. This case is the first to be reported from the Arab region, with these combined mutations leading to recurrent chronic pancreatitis. It illustrates the importance of diagnosing the underlying genetic mutation in the absence of other known causes of pancreatitis. Considering the absence of pancreatitis history in the mother who did not have obesity but harboured the same mutations, we point out that severe obesity might be a triggering factor of pancreatitis in the presence of the mutations in the SPINK1 gene in this child. While this is not an assumption from a single patient, we show that not all carriers of this mutation develop the disease, even within the same family. Triggering factors like severe obesity might have a role in developing the disease.

LEARNING POINTS DISCUSSION: Acute recurrent pancreatitis and chronic pancreatitis are uncommon in children but might be underdiagnosed. Biliary tract anomalies and dyslipidaemias are known causative factors for pancreatitis, but pancreatitis can be seen in children with intact biliary system. Genetic diagnosis should be sought in children with pancreatitis in the absence of known underlying predisposing factors. SPINK1 mutations can predispose to early-onset severe recurrent pancreatitis and acute pancreatitis.



ID: 213 / 08-PT-L-d2D: 2
Poster Presentation (Onsite)
Topics: ENDOCRINOLOGY, NEONATOLOGY
Keywords: Endocrinology; Neonatology; Congenital Adrenal Hyperplasia; Genital Ambiguity; Salt-wasting Crisis

Congenital adrenal hyperplasia in the neonatal period - a case report

Aguiar, Barbara Ribeiro1; Sutre, Ana Filipa2; Bethencourt, Noslen3; Oliveira, Vanusa4; Fernandes, Djamila3; Sanches, Mitza3

1Pediatric Department, Beatriz Angelo Hospital, Portugal; 2Pediatric Department, Santarem Hospital, Portugal; 3Pediatric Department, Agostinho Neto University Hospital, Praia, Santiago Island, Cape Verde; 4Internal Medicine Department, Agostinho Neto University Hospital, Praia, Santiago Island, Cape Verde

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder caused by a deficit of enzymes involved in steroidogenesis. The diagnosis can be suspected in the newborn in the presence of genital ambiguity or clinical signs suggestive of a salt-wasting crisis.

CASE PRESENTATION SUMMARY: We present the case of a newborn who was the first child from healthy, young and non-consanguineous parents, with adequate pregnancy surveillance. No chronic diseases were running in the family. (1) The obstetric ultrasounds apparently didn't show changes, and it has been identified as a female fetus. Eutocic delivery in Cape Verde at 39 weeks gestation, Apgar scores 9 at 1st minute and 10 at 5th minute. The physical examination revealed genital ambiguity. The abdominal ultrasound showed a uterus with adequate characteristics and a bilateral inguinal canal with hypoechoic images of 9x3mm and 9x2mm - "adenopathies or testicles". The patient was discharged home with the indication for follow-up in Endocrinology and Neonatology appointments. (2) At 19 days of life, the patient presented to the emergency department with severe electrolyte imbalance. The parents reported a three-day history of poor feeding, vomiting, lethargy and hypotonia. No fever was noted. The blood test showed hyponatraemia (Na+ 107mmol/L), hyperkalaemia (K+ 8.1mmol/L) and glycemia 64mg/dL. A probable diagnosis of CAH with a salt-wasting crisis was made, and the newborn commenced treatment. Clinical and analytical stability was verified 48 hours after the start of treatment. The karyotype was 46,XX and the diagnosis of CAH secondary to 21-hydroxylase (21-OH) deficiency was confirmed by molecular studies (basal 17α-hydroxyprogesterone 38.6ng/mL; normal value 7.06±3.78ng/mL). The newborn was discharged home with hydrocortisone, fludrocortisone and sodium chloride. At 9 months of age, under treatment, the patient is clinically well and maintains genital ambiguity, with a phallus of 2 cm (Figure 1). The ultrasound was not repeated, and the patient is awaiting surgery.

LEARNING POINTS DISCUSSION: Genital ambiguity is associated with the simple virilizing type of 21-OH deficiency. The classic form of CAH with salt-wasting should be suspected in the presence of hypotonia, vomiting and diarrhea between the first and fourth week of life. Substitution treatment can be life-saving and should be immediately instituted in any neonate when there is a suspicion of an acute salt-wasting crisis.



ID: 122 / 08-PT-L-d2D: 3
Poster Presentation (Onsite)
Topics: RARE DISEASES, ENDOCRINOLOGY
Keywords: Alopecia, end-organ resistance, vitamin D, 1, 25(OH)2 vitamin D3, refractory rickets

Vitamin D-dependent rickets type II with alopecia: a rare case report

Al Saleh, Abdullah Saleh

Ministry of the National Guard, Health Affairs / King Abdualziz Medical City/Riyadh/ Saudi Arabia

INTRODUCTION: Vitamin D-dependent rickets (VDDR) type II, also known as hereditary vitamin D-resistant rickets type II (VDDRII), is a rare autosomal recessive disorder caused by a mutation in the vitamin D receptor gene, leading to end-organ resistance to 1,25(OH)2 vitamin D3. A patient with this condition presents with refractory rickets and growth retardation during the first year of life. This condition is frequently associated with alopecia totalis. The recommended treatment is supraphysiological doses of 1,25(OH)2 vitamin D3 and high doses of oral or intravenous calcium.

CASE REPORT: A 15-month-old Saudi female visited the clinic for routine one-year vaccination. The baby demonstrated normal gross motor developmental milestones. On physical examination, the baby’s weight was 8 kg (5th percentile based on WHO, length was 71 cm (< 3rd percentile based on WHO), and she had a normal head circumference. She had alopecia totalis and evidence of rickets physically. Laboratory investigations and X-rays were done. Genetic testing confirmed the diagnosis of autosomal recessive VDDRIIA. She was referred to a pediatric endocrinologist who started: Alfacalcidol drops (3 μg daily), vitamin D3 (1000 IU daily) and oral calcium gluconate (1200 g/day). At the 6-month follow-up, the patient showed improvement in her laboratory findings. The patient was also referred to a pediatric dermatologist who recommended no intervention for the alopecia totalis. (Figures 1 and 2)

DISCUSSION: When nutritional rickets are detected, other etiologies of rickets are often not considered. This thinking results in the delayed initiation of treatment, resulting in severe growth retardation and deformities. Red flag signs suggesting a non-nutritional etiology are early onset of rickets, severe deformity, associated failure to thrive, and the presence of alopecia. VDDRII is a rare disorder caused by target organ resistance to 1,25(OH)2 vitamin D, the biologically active form of vitamin D. VDDRII is diagnosed through findings of elevated circulating levels of 1,25(OH)2 vitamin D. Patients with VDDRII present with early-onset rickets, hypocalcemia, and associated total body alopecia. The alopecia may be present at birth or within the first few months of life and progresses to alopecia totalis by childhood. Alopecia is generally not responsive to treatment. The use of intravenous high-dose calcium infusions followed by a high dose of oral calcium is an effective treatment method for VDDRII. The treatment is more effective if started early during the course of the disease and leads to early healing and better growth with prevention of bone deformities.

CONCLUSION: VDDRII is a rare hereditary autosomal recessive disease originating from mutations in the vitamin D receptors. Clinical manifestations are identical to Vitamin D-deficiency rickets (except alopecia), whereas hypocalcemia and high values of 1.25-dihydroxyvitamin D in serum were characteristic in laboratory findings regarding VDDRII. Treatment is long-lasting with the administration of high doses of calcium and a constant dosage of calcitriol.



ID: 184 / 08-PT-L-d2D: 4
Poster Presentation (Onsite)
Topics: HAEMATOLOGY / ONCOLOGY
Keywords: meningococcal vaccine, hemolytic anemia, auto-immune

Autoimmune hemolytic anemia – possible association with meningococcal-ACWY vaccine?

Lopes, Vilma; Borges, Joana Pires; Rangel, Maria Adriana; Pinto, Rui

Pediatric Department, Centro Hospitalar Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal

BACKGROUND: Autoimmune hemolytic anemia (AIHA) is an uncommon manifestation in paediatric age and is frequently associated with a previous viral or bacterial infection. Vaccination has also been reported as a possible trigger.

CASE PRESENTATION SUMMARY: 6-year-old healthy female was admitted to the emergency department with jaundice since the previous day. A detailed clinical history excluded other associated symptoms, including coluria, acholia, fever or other constitutional symptoms. Aside from jaundice, physical examination was unremarkable. Ten days before, she had been inoculated with the meningococcal vaccine against the serogroups A, C, W, and Y (Nimenrix®). There was no recent history of infectious intercurrence, drug or herbal supplements intake or travelling. The blood workup showed a normocytic normochromic anaemia with hemoglobulin of 11,4 g/dL, with 51960/uL reticulocyte count and normal white blood cell and plaquet counts. The biochemical evaluation revealed an unconjugated hyperbilirubinemia, serum LDH of 482 U/L with haptoglobin <10 mg/dL. Liver and kidney function were normal, and c-reactive protein and erythrocyte sedimentation rates were negative. Urinalysis showed no evidence of coluria. The direct antiglobulin test was strongly positive (3/4) for IgG (2/4) and C3d (3/4). The coagulation screen blood test was normal. The diagnosis of AIAH was established, and she was admitted to the Paediatric Department. Given the good clinical impression and mild anemia with no hemodynamic repercussions, no immediate directed treatment was started. The investigation proceeded to identify possible underlying disorders. An extended immune-haematological and microbiological investigation was performed and showed no relevant results. The abdominal ultrasound was normal. Serial analytic re-evaluations showed gradual haemoglobin improvement and normalization of LDH and haptoglobin. The jaundice resolved completely, and bilirubin normalized after ten days. No other symptoms appeared. She kept follow-up in Pediatric Consultation, and to date, she has had no clinical or analytical relapse.

LEARNING POINTS DISCUSSION: In the reported case, the short time lag between vaccination and the onset of symptoms strongly suggests a causal relationship. Furthermore, other alternative explanations for the occurrence of AIHA were not found. A report of this adverse reaction was submitted to Portugal’s national drug and health products authority (Infarmed) and was scored by specialized professionals as “Probable”. To our knowledge, no published reports of this adverse reaction are not mentioned in the vaccine’s European Public Assessment Report. (1) This report aims to alert clinicians to this possible adverse event following the ACWY vaccine to instruct patients about alarming signs and symptoms.



ID: 147 / 08-PT-L-d2D: 5
Poster Presentation (Onsite)
Topics: INFECTIOUS DISEASES
Keywords: myiasis, cutaneous myiasis, pediatric patients, maggots, mechanical removal

Cutaneous myiasis of the scalp: a case report

Razak, Rien Anggraini1,2; Hannanu, Firdaus Fabrice2; Dahlan, Fith3; Julison, Albert4

1General Physician Department, Primaya Hospital Makassar, Indonesia; 2Medical Faculty of Hasanuddin University, Makassar, Indonesia; 3Pediatric Department, Primaya Hospital Makassar, Indonesia; 4Surgery Department, Primaya Hospital Makassar, Indonesia

BACKGROUND: Myiasis is a rare disease with higher prevalence in low socioeconomic regions of tropical and subtropical countries. Although myiasis has been widely distributed in South Sulawesi for years, many hospitals still do not have standard operating procedures for managing myiasis. This report aimed to increase awareness and provide insight into its appropriate management.

CASE PRESENTATION SUMMARY: A three-month-old boy was admitted to the hospital with a boil-like nodular lesion on his scalp of four-days duration that ruptured with the discharge of six larvae. The patient had suffered from a cradle cap for one month, with a history of visiting a crowded traditional market. The lesion was previously diagnosed as furunculosis, yet the advised topical and broad-spectrum antibiotic did not provide relief. Physical examination revealed a redness raised opening (diameter 1 cm) with pus at the centre of the swelling. Crusty yellow patches on the entire surface of the scalp were also observed. One larva was discharged after the nodule was squeezed. Laboratory examination revealed leukocytosis. Based on these findings, the working diagnosis was cutaneous myiasis with a secondary bacterial infection. The patient was treated with 1) mechanical larva extraction followed by surgical debridement and saline irrigation, 2) regular renewal of wound dressing, 3) petroleum jelly, and 4) antibiotics. Despite the aggressive treatment, 1-3 larvae were still reported on daily observation until the second mechanical larva extraction was held 12 days after the first extraction. One week following the second extraction, no more larvae were found on the scalp, and clinical improvement was reported. After 16 days of hospitalization, the patient was discharged with no further complications (Figure 1).

LEARNING POINTS DISCUSSION: Myiasis remains a problem in South Sulawesi. Poor hygiene, lack of access to entomologists, and availability of drugs of choice have become the biggest challenges in eliminating the disease. Although no specific line of treatment has been advised, oral and topical off-label application of Ivermectin was reported to be the drug of choice to treat wound myiasis effectively. Unfortunately, in our case, Ivermectin was unavailable at the time, both at the hospital and province levels. Nevertheless, despite the prolonged recovery time, aggressive debridement and mechanical larvae extraction succeeded in removing all the larvae on the patient’s scalp, with significant clinical improvement. This case report recommends considering myiasis as a differential diagnosis in future furuncular skin lesions and providing Ivermectin to prevent complications from myiasis, especially in endemic areas.



ID: 167 / 08-PT-L-d2D: 6
Poster Presentation (Onsite)
Topics: INFECTIOUS DISEASES
Keywords: RSV, cost-effectiveness, preterm, prophylaxis

New analysis on the cost-effectiveness of palivizumab for the prevention of severe respiratory syncytial virus (RSV) infection in infants born 29-31 weeks’ gestational age (wGA)

Keary, Ian1; Paes, Bosco2; Fullarton, John1; Rodgers-Gray, Barry1; Tarride, Jean-Eric2; Carbonell-Estrany, Xavier3

1Violicom Medical Limited, United Kingdom; 2McMaster University, Hamilton, Ontario, Canada; 3Hospital Clinic, Barcelona, Spain

BACKGROUND: Palivizumab remains the only licensed intervention for the prevention of severe RSV infection in high-risk infants, including those born <35wGA. Up until 2015, the Canadian Paediatric Society (CPS) recommended all otherwise healthy infants born ≤32wGA and <6 months at the start of the RSV season receive prophylaxis. 1 Since 2015, however, palivizumab use has largely been restricted to those otherwise healthy infants born ≤30wGA and <6 months old (reaffirmed in 2021). 2 The objective of this study was to provide an up-to-date economic analysis of palivizumab versus no prophylaxis in 29-31wGA infants using Canadian costs.

METHODS: A systematic review of previous economic models of palivizumab in 29-31wGA infants and expert clinical input informed the development of a new cost-utility model. Infants were assumed to follow a semi-Markov process having either an RSV hospitalisation (RSVH), emergency room/outpatient-attended RSV infection, or were uninfected/non-medically attended. Hospitalised infants could be admitted to the ICU (17.9%), and ICU-admitted infants could die (0.43%). All non-hospitalised and surviving hospitalised infants could experience respiratory morbidity for up to 18 years across a lifetime time horizon; duration and rates of morbidity were calculated according to RSV infection and palivizumab status. The RSVH rate in non-prophylaxed infants was 5.9%, which was reduced by 63.3% by palivizumab. Palivizumab costs (assuming 50mg: CAN$752; 100mg: $1,505) were calculated from Canadian birth statistics. The base case assumed the inclusion of indirect costs, no vial sharing, and 18 years’ respiratory morbidity (1.5% discounting). A cost per quality-adjusted life-year (QALY) of ≤$50,000 was considered cost-effective.

RESULTS: Palivizumab was highly cost-effective ($29,579/QALY) in 29-31wGA infants in the base case and remained so when respiratory morbidity was limited to 13 ($37,343/QALY) or 6 ($50,352/QALY) years (Table 1). In deterministic sensitivity analyses (±20% on main variables) the model was most sensitive to utility scores, long-term morbidity rates, palivizumab cost, and palivizumab efficacy. Probabilistic sensitivity analyses (10,000 iterations) resulted in incremental costs of $30,857/QALY, with a 0.76 probability of palivizumab being cost-effective at a $50,000 willingness-to-pay threshold. Vial sharing (5% wastage) considerably improved cost-effectiveness in the base case ($21,438/QALY). The exclusion of discounting ($26,443/QALY) and indirect costs ($28,525/QALY) had a relatively negligible impact on cost-effectiveness.

CONCLUSIONS: This new analysis, incorporating a comprehensive assessment of the burden of RSV, demonstrated that palivizumab is highly cost-effective in 29-31wGA infants versus no prophylaxis using Canadian healthcare costs. As commonly employed in clinical practice, Vial sharing significantly improved the cost/QALY.



ID: 119 / 08-PT-L-d2D: 7
Poster Presentation (Onsite)
Topics: NUTRITION & DIETS, NEONATOLOGY
Keywords: Breastfeeding, Human milk donation, Human milk banking, Ambulatory human milk donor, Muslim countries

Ambulatory human milk donation, a continuous experience

Alnaqeeb, Niran1; Tolba, Azza2; Elhassanin, Ahmed3; Azab, Ayman4

1Adan hospital, MOH, Kuwait, Kuwait; 2Adan hospital, MOH, Kuwait, Kuwait; 3Adan hospital, MOH, Kuwait, Kuwait, Faculty of Medicine, Mansoura university, Egypt; 4Adan hospital, MOH, Kuwait, Kuwait

BACKGROUND: Human milk banking is prohibited in Muslim countries due to religious issues. In Adan hospital-Kuwait, every effort is made to initiate and maintain breastfeeding starting from the antenatal period.

METHOD: An innovative human milk donation (HMD) Policy was implemented in 2000. Despite this early start, only a few preterm babies received this donated human milk every year due to many issues such as; low availability of the volunteering mothers, reluctance to accept the idea of HMD due to religious factors and the most crippling obstacle was the time factor. In an attempt to improve the HMD policy, the ambulatory human milk donation (AHMD) Policy was started in 2019. AHMD policy includes some antenatal steps such as antenatal counselling for pregnant women, especially those expecting to have a preterm or sick baby, finding ambulatory donors who may accept the idea, usually from the lactation clinic, lactating mothers who accept the idea to be a donor, laboratory tests were done, demonstrative materials about the religious and social Issues for HMD were supplied. After delivery, instructions were given to donors about how to express their human milk and transfer it in sterile containers to the lactation unit. This donor milk was kept in the AHMD freezer to be ready for the recipient baby.

RESULTS: To our delight, after three years of implementation of the AHMD policy, the number of preterm and sick babies received their first feed from ambulatory human milk increased significantly and also the experience of our team to overcome the obstacles, especially the time factor issue, had much improved.



ID: 137 / 08-PT-L-d2D: 8
Poster Presentation (Onsite)
Topics: NEONATOLOGY
Keywords: necrotizing enterocolitis, claudin-3, preterm infants

Claudin-as a biomarker for early diagnosis of necrotizing enterocolitis in preterm infants.

Huseynova, İlaha

Azerbaijan Medical University, Azerbaijan,Baku

INTRODUCTION: Necrotizing enterocolitis (NEC) is a severe and polyetiological disease with a high specific density in perinatal causes of death among preterm, especially very low and extremely low birth weight infants. Notwithstanding numerous studies and the use of modern clinic guidance in this aspect, NEC remains one of the actual problems in neonatology.

AIM: This study aims to define the role of claudin-3 in the early diagnosis of NEC in preterm infants.

MATERIAL AND METHODS: 45 preterm infants suspected of NEC in the neonatal intensive care unit (NICU) were included in the study. The clinic, laboratory, and imaging techniques were used to confirm the diagnosis in all preterm infants suspected of NEC. All examined neonates were compared in two groups: the 1st group, of 31 infants, did not develop NEC and the 2nd group, of 14 infants who developed NEC. In both groups, urinary claudin-3 levels were measured by the enzyme-linked immunosorbent assay (ELISA) method. Urine collectors obtained urine from all included neonates. In 1st group gestational age was min 26, max 36; mean 30,61; st. D 2,67; birth weight min 800g, max 2200g, mean 1413,7; st. D 424,4; in 2nd group gestational age was min 26, max 34; mean 29, 14; st.D 2,77; birth weight min800, max1640g; mean 1207,9;st. D 288,18. [1] Statistical analyses were performed in an SPSS20 Windows system. According to the abnormal distribution of claudin-3 levels, the Wilcoxon Mann-Whitney method was used.

RESULTS: Claudin-3 levels in the 1st group were mean 29,3 (95 confidence interval 27,2-31,4), st. D 5,71;in 2nd group were mean 34,4(95 confidence interval32,0-36,8), st. D 4,12. [1] After ranking mean levels, there was statistically high diagnostic accuracy among claudin levels of these neonates, p=0,002. (Figure 1.) The sensitivity (86%) and specificity (71%) of claudin-3 were determined by ROC analysis.

CONCLUSION: Thus, we can conclude that increased levels of claudin-3 in urine reflect a loss of tight junctions. Tight junction loss, one of the main components of the intestinal barrier, can lead to NEC. Accordingly, we can confirm NEC by increased levels of claudin-3 in urine in preterm infants with suspicion of NEC. [1] These findings suggest that using urinary claudin-3 as a noninvasive marker for early diagnosis of NEC in preterm infants is appropriate.



ID: 183 / 08-PT-L-d2D: 9
Poster Presentation (Onsite)
Topics: NEONATOLOGY
Keywords: Necrotizing Enterocolitis, prematurity, intestinal inflammation

Necrotizing Enterocolitis – retrospective analyses of 5 years in a Neonatal Intensive Care Unit

Pinho, Joana1; Vieira, Beatriz2; Lopes, Vilma1; Torres, Jacinto3; Costa, Conceição3

1Department of Pediatrics, Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal; 2Department of Pediatrics, Centro Hospitalar Póvoa de Varzim / Vila do Conde; 3Department of Neonatology, Centro Hospitalar Vila Nova de Gaia/Espinho, Portugal

BACKGROUND: Necrotizing enterocolitis (NEC) is a severe idiopathic and multifactorial disease characterised by inflammatory bowel mucosa and ischemic necrosis. NEC is one of the most gastrointestinal emergencies in newborn infants, and it´s an important cause of mortality and morbidity in preterms, especially in very low birth weight (VLBW) infants, with high mortality rates (15-30%).

AIM: This study aims to analyse and describe the cases of NEC in our hospital and draw a comparison between our data and literature.

METHODS: Retrospective analysis of clinical data from newborns in our Neonatal Intensive Care Unit diagnosed with NEC between January 2016 and December 2020. We analysed epidemiological data, clinical manifestations, laboratory and radiologic findings, management and complications.

RESULTS: We found 21 cases of NEC. 33.3% in newborns with gestational age (GA)<28 weeks; 33.3% with GA [28-32[ weeks; 29.6% with GA [32-37[ weeks and 4.8%≥37 weeks. New-borns VLBW were 61.9%(n=13). In five newborns (23.8%), prenatal glucocorticoid was not administered. In 7 cases, one stopped his diet completely, while the other six only did a trophic diet. In 12 infants, their diet was non-human milk. Ibuprofen was used to treat patent arterial duct in 5 newborns (23.8%). (1) Diagnosis was made at 14.4±11.3 days. All of the subjects developed abdominal distension and tenderness; 13 cases (61.9%) showed increased gastric residual volume (>25%), 42.9% developed vomiting, and 38.1%(n=8) had rectal bleeding. Abdominal wall erythema was found in 4 infants (19%). Respiratory instability occurred in 52.4% (n=11) and hypotension in 38.1%(n=8). Bacteriemia was found in 19.0% (n=4) and C-Reactive Protein was positive in 76.2% (n=16). The main laboratory findings were hyperglycaemia (61.9%; n=13), thrombocytopenia (52.4%; n=11), metabolic acidosis (52.4%; n=11) and hyponatremia (52.4%; n=11). Dilated loops (95.2%; n=11), sentinel loops (47.6%; n=10), pneumatosis (38.1%; n=8) and pneumoperitoneum (23.8%; n=5) were the findings of the abdominal radiographic imaging. (2) According to Bell staging, 5 infants (23.8%) had suspected NEC (stage IA and IB), 6(28.6%) had proven NEC (IIA and IIB), and 10(47.6%) infants had advanced NEC (IIIA and IIIB). (3) All infants made bowel rest during 10.2±5.0 days. Twenty infants (95.2%) did empiric antibiotic therapy for about 15.8±7.4 days. As a first approach, 4 (19.0%) needed abdominal drain, and 4 were submitted to abdominal surgery (19.0%). (4) Intestinal narrowing occurred in 23.8%(n=5), all submitted to surgery. Poor long-term growth and neurodevelopment were found in 2 infants (9.5%). One of the infants in this sample died (4.8%).

CONCLUSIONS: Most of the results are in accordance with what is suggested in the literature. Only the mortality rate was lower (4.8% in our study versus 15% in the literature).



ID: 100 / 08-PT-L-d2D: 10
Poster Presentation (Onsite)
Topics: NEONATOLOGY
Keywords: perinatal hypoxia, hypoxic-ischemic encephalopathy, neonatal death, neutrophil gelatinase-associated lipocalin, kidney injury molecule-1

NGAL and KIM-1 are beneficial biomarkers for the early prediction of neonatal death in small birth weight infants with hypoxic-ischemic encephalopathy

Panakhova, Nushaba1; Akhundova, Afag1; Huseynova, Saadat2; Hajiyeva, Adila3; Adilova, Aytekin1

1Azerbaijan Medical University; 2Scientific Research Institute of Obstetrics and Gynecology, Azerbaijan; 3Scientific Research Institute of Pediatrics

INTRODUCTION: Perinatal hypoxia causes multi-organ dysfunction resulting in renal and neurological compromise with about 1.4% of hypoxic-ischemic encephalopathy (HIE) and almost 20% of neonatal death. Early recognition of acute kidney injury (AKI) is important to facilitate appropriate fluid and electrolyte management for a stable biochemical milieu and reduce neonatal mortality and morbidity.

AIM: The study aimed to confirm whether higher levels of AKİ markers - urinary neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1) are associated with increased mortality risk in HİE neonates.

MATERIALS AND METHODS: The study included low birth weight neonates with HIE divided into 2 groups: 1st group - 41 died neonates, and 2nd group - 196 survived neonates. ELISA assays of KIM-1 in urine and NGAL in plasma were performed on days 1 and 7.

RESULTS: Median level of NGAL was 119.4±21.7 ng/ml and 187.63± 16,5 ng/ml on the 1st and 7th days of life, respectively, in the 1-st group versus 122.1±12.1 ng/ml and 151.4±14.3 ng/ml (18.6–60.5) in 2nd group. KIM-1 was 0.48±0.06 ng/ml and 0.99±0.3 ng/ml on the 1st and 7th days of life, respectively, in the 1-st group versus 0.86±0.16 ng/ml and 09±0.21 ng/ml in 2nd group (1.8–4.6). Despite the absence of a statistically significant difference in terms of sensitive markers of AKI between compared groups, the deceased newborns were characterized by a significant increase in the level of both markers in the dynamics of the early neonatal period (p<0.05)

CONCLUSIONS: Increased levels of NGAL and KIM-1 in the dynamic of the early neonatal period of small birth weight infants with HIE are associated with neonatal mortality.



ID: 210 / 08-PT-L-d2D: 11
Poster Presentation (Onsite)
Topics: NEUROLOGY
Keywords: Refractory benign idiopathic intracranial hypertension

Case of benign idiopathic intracranial hypertension refractory to medical therapy, managed with ventriculoperitoneal shunt insertion: a case report

Al Karaghouli, Yusur Turky1,2; Fathalla, Waseem Mahmoud2

1Abu Dhabi Health Service Company, United Arab Emirates; 2Sheikh Shakhbout Medical City, United Arab Emirates

INTRODUCTION: Benign idiopathic intracranial hypertension usually presents with headache and transient obscuration of vision. The diagnosis is made based on clinical criteria, including symptoms, signs and characteristic neuroimaging findings consistent with IIH. The urgency of managing benign IIH is to avoid permanent vision loss, which may be seen in 15% of the patients.

OBJECTIVES: Report a case of benign idiopathic intracranial hypertension that was refractory to pharmacological management and necessitated surgical intervention with restoration of vision and resolution of bilateral papilledema.

CLINICAL CASE: A 12 years old girl, previously healthy, with a BMI above the 99th centile, initially presented with a 1-year history of nonspecific, throbbing headache associated with decreased visual acuity and photopsia of a couple of weeks duration. Physical examination was unremarkable, with an intact neurological exam; however, a formal ophthalmological examination revealed bilateral grade IV papilledema with enlarged blind spots and increased intraocular pressure in both eyes. MRI brain and MRV brain were normal. (1) A lumbar puncture showed an opening pressure of 36 cmH2O, and cerebrospinal fluid analysis was done to rule out infectious aetiologies. She was initially started on IV Acetazolamide for 48 hours and then switched to oral Acetazolamide. (2) She was followed up in the paediatrics neurology and ophthalmology outpatient clinics for almost 2 months while on Acetazolamide in addition to Topiramate. Mild improvement in symptoms was seen; however, ophthalmological examinations showed persistent grade IV papilledema, and a repeat lumbar puncture still showed an elevated opening pressure of 23 mmH2O. The patient underwent surgical intervention with VP shunt insertion, which improved symptoms with complete resolution of her papilledema.

CONCLUSION: A patient on medical therapy for benign idiopathic intracranial hypertension needs careful follow-up. Surgical interventions, including optic nerve sheath fenestration or cerebrospinal fluid shunting procedures, should be explored for those patients whose clinical condition does not improve as expected.



ID: 203 / 08-PT-L-d2D: 12
Poster Presentation (Onsite)
Topics: RARE DISEASES, NEUROLOGY
Keywords: TANGO2 Gene Mutation

Homozygous variant in TANGO2 gene presenting with acute encephalopathy and rhabdomyolysis: a case report.

Al Karaghouli, Yusur Turky1,2; Fathalla, Waseem Mahmoud1

1Sheikh Shakhbout Medical City; 2Abu Dhabi Health Service Company, United Arab Emirates

INTRODUCTION: TANGO2-related metabolic encephalopathy and arrhythmias (TRMEA) is a rare autosomal recessive genetic disorder first reported in 2016 with less than 100 reported cases. TRMEA has a wide phenotypic spectrum, including acute metabolic crises, rhabdomyolysis, muscle weakness, ataxia, intellectual delay, dysarthria and cardiac arrhythmias (prolonged QT interval and Torsade de pointes).

OBJECTIVES: Report a case of TRMEA with acute encephalomyopathic crisis related to a novel TANGO-2 variant, and raise awareness about this life-threatening manifestation.

CLINICAL CASE: A 5 years old boy developed acute encephalomyopathy and rhabdomyolysis 3 days after undergoing a surgical procedure. His creatine kinase level was more than 40,000 IU/L with no hyperammonemia. EEG was abnormal, and ECG showed prolonged QTc interval; echocardiography did not show any cardiomyopathy. He required paediatric intensive care for the management of his encephalopathy and rhabdomyolsis (with double hydration and alkalinisation). He returned to his baseline upon discharge and follow-up. (1) His records indicated normal development until the age of 18 months, when he had an episode of unprovoked seizure, after which he developed lower limbs’ hyperreflexia, spasticity and unsteady gait. Extensive investigations were non-yielding; whole Genome Sequencing revealed a homozygous variant of uncertain significance in the TANGO2 gene, which is compatible with his acute crisis.

CONCLUSION: TANGO2-related acute encephalomyopathic crisis should be considered in patients presenting with otherwise unexplained acute encephalopathy and myoglobulinuria. Conversely, patients diagnosed with TANGO2-related disorders should be cautioned about acute deterioration provoked by stress or intercurrent illness.



ID: 175 / 08-PT-L-d2D: 13
Poster Presentation (Onsite)
Topics: NEUROLOGY
Keywords: night terror, epilepsy, oxcarbazepine

Night terror or epilepsy?- a case report

Tavchioska, Gabriela1; Hristova, Aleksandra2

1General hospital Prilep, North Macedonia, Republic of; 2General hospital Kumanovo, North Macedonia, Republic of

BACKGROUND: Diagnosing an abnormal paroxysmal event during sleep presents a challenge for paediatricians in resource-limited settings.

CASE PRESENTATION: a 10-year-old male child was referred by a family doctor because of unclear events during a sleep that started 6 months ago. Five times during the six months, the child sat in bed while sleeping shouted and blinked his eyes. The child was born from a normal pregnancy, with normal psychomotor development. Investigations such as biochemical tests, ECG, EEG and MR of the brain were done. Unfortunately, video EEG is not available in my hospital. EEG findings were spike slow wave complexes in F2-F8, F8-T4, T4-T6 and T6-O2, which were more frequent during photostimulation. The rest of the investigations had normal findings. Antiepileptic therapy was started with oxcarbazepine with no side effects. The child is seizures free 8 months.

CONCLUSION: Night terror and seizures can be distinguished with proper clinical evaluation and diagnostic testing.



ID: 269 / 08-PT-L-d2D: 14
Poster Presentation (Onsite)
Topics: ADOLESCENT MEDICINE, PUBLIC HEALTH
Keywords: Cannabis consumption, Health Behaviour in School-aged children (HBSC)

Profiles of cannabis consumption among school-aged children in Luxembourg

Lopes Ferreira, Joana; Catunda, Carolina

University of Luxembourg, Luxembourg

BACKGROUND: Cannabis is the most widely used illegal drug globally, with almost 200 million users in 2019. This use is associated with many negative health consequences and social problems, such as low school performance and other drug use. Cannabis use can be particularly harmful if it starts early, if it’s excessive or if it occurs associated with other forms of problematic behaviours. (1) A lot of health behaviours, good or bad, emerge during adolescence and remain through the life course. Changing unhealthy behaviours in adolescence would significantly impact society, such as reducing the load of disease, injuries, and economic costs. (2) The objective of this study is to explore cannabis consumption profiles and the factors related to it during adolescence.

METHODS: This study is based on the 2017/2018 Health Behaviour in School-aged Children Luxembourg survey. Participated 6 880 adolescents, aged 12 to 18-year-old, that attended schools in Luxembourg that teach according to the national. Adolescents answered if they used cannabis during their lifetime and during the past month. Following, they were categorized into 4 groups: 1. never consumed cannabis in a lifetime; 2. consumed in a lifetime but not in the past month; 3. non-daily use during the past month and; 4. daily use (or almost) during the past month. To compare and characterize the groups, descriptive and bivariate analyzes were undertaken, as well as their significance level.

RESULTS: Results show that most of the adolescents (81.8%) never consumed cannabis in their lifetime; 9.4% declared a consumption during their lifetime but not the past month; 6.6% used during the past month, non-daily; and 2.2% used (almost) daily during the past month. Different profiles emerge between the groups, particularly with regard to socio-demographic characteristics and risky behaviours. In the case of social relationships and indicators of health and well-being, differences exist but are not as pronounced. Boys, older students and those who do not live with both parents are more likely to be part of groups that have used cannabis. In addition, most risk behaviours show a dose-response relationship with cannabis use. The increase in risky behaviours translates into not only a greater likelihood of using cannabis but also a greater frequency of use.

CONCLUSION: The four different profiles evolve gradually with the frequency of cannabis consumption. This dose-effect relationship has been highlighted between cannabis consumption and the other variables present but is especially true for risk behaviours. Prevention strategies should distinguish adolescents from each of these groups, starting in early adolescence and focus on risk behaviours as a whole.



ID: 265 / 08-PT-L-d2D: 15
Poster Presentation (Onsite)
Topics: GASTROENTEROLOGY
Keywords: Functional abdominal pain, irritable bowel syndrome, primary care

Home-based hypnotherapy for children with functional abdominal pain and irritable bowel syndrome in primary care: design of a randomised-controlled trial

Ganzevoort, Ilse Nadine1; Fokkema, Tryntsje1; Mol-Alma, Harma J.1; Heida, Anke1; van der Veen, Adriëlla L.1; Benninga, Marc A.2; Vlieger, Arine M.3; Berger, Marjolein Y.1; Holtman, Gea A.1

1University Medical Center Groningen, Groningen, the Netherlands; 2Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, the Netherlands; 3St. Antonius Hospital, Nieuwegein, the Netherlands

BACKGROUND: Children often present to primary care with functional abdominal pain (FAP) or irritable bowel syndrome (IBS). These functional abdominal gastrointestinal diseases cannot be explained by organic disease and are often caused by interactions between biological, psychological and social factors. General practitioners (GP) usual care in the Netherlands, according to the Dutch Society of GPs guideline for FAP, consists of communication, education and reassurance. However, around half of the children still report abdominal complaints after one year, underlining the difficulty of treatment. Hypnotherapy is often used in paediatric care. Hypnotherapy involves a therapist inducing a hypnotic state by guiding a patient to respond to suggestions. Suggestions focus on changes in physiology, sensations, emotions, thoughts, or behaviour. While hypnotherapy has an evidence base in paediatric care, it lacks evidence in primary care. Therefore, this study will investigate the (cost) effectiveness of home-based hypnotherapy for children with FAP or IBS in primary care.

METHODS: Children aged 7-17 years presenting with FAP or IBS in primary care are currently recruited to participate in this pragmatic, randomised, controlled trial and will be assessed over 12 months. The control group will receive care as usual from their GP, while the intervention group will receive care as usual plus 3 months of home-based hypnotherapy (Figure 1). Home-based hypnotherapy consists of daily listening to standardised hypnosis exercises via a website. The primary outcome is the proportion of children with adequate relief from abdominal pain/discomfort at 12 months, analysed on an intention-to-treat basis. Secondary outcomes include adequate pain relief at 3 and 6 months, the severity of pain/discomfort, pain frequency and intensity, daily functioning and impact on function, anxiety and depression, pain beliefs, sleep disturbances, school absence, somatisation, and health care use and costs. We must include 200 children to determine a 20% difference in those with adequate relief (55% control vs 75% intervention).

RESULTS: The recruitment is ongoing until September 2023. Results are expected in 2024.

CONCLUSIONS: Home-based hypnotherapy is a simple-to-use intervention and could potentially aid GPs in the management of children with FAP or IBS. Home-based hypnotherapy at an early stage could lead to a better prognosis, prevent unnecessary referrals and reduce costs. Besides this trial, we will perform a qualitative study including children, parents and GPs to investigate facilitators and barriers for implementation in primary care.



ID: 212 / 08-PT-L-d2D: 16
Poster Presentation (Onsite)
Topics: GENERAL PEDIATRICS
Keywords: Echinococcus, hydatid cyst, brain cyst

Intracranial hydatid cyst in a ten-year-old boy presented in paediatric emergency department

Louka, Magdalini; Kollia, Elissavet; Antonopoulos, Stavros; Ioannidou, Loukia

"Aghia Sophia" Childrens' Hospital, Greece

BACKGROUND: Cystic echinococcosis is a parasitic infestation of Echinococcus, with dogs being the definite primary hosts. Cysts can develop in various organs, mainly the liver and lungs, whereas intracranial hydatid cysts (IΗC) account only for 0.5-3% of all cases of CE. Prevalence is higher in endemic regions like Mediterranean countries, South America, North Africa and Australia. We report a case of giant IΗC in a ten-year-old boy from Greece, presenting with intermittent headache and vomiting.

CASE PRESENTATION SUMMARY: The ten-year-old boy presented in our paediatric Emergency Department (ED) with a chief complaint of vomiting episodes over the last month, for which he was recently hospitalised and managed as per acute gastroenteritis. Further history revealed the onset of episodic headache two weeks ago, occurring mainly in the morning and deteriorating by supine position. History of contact with pet dogs was also noted. On examination, Glasgow Coma Scale was 15, and vital signs were within normal limits, but the patient exhibited a positive Romberg’s test when the head was turned towards the left and a positive pronator drift of the left arm. Fundoscopy indicated raised intracranial pressure as bilateral frank papilloedema was present. Urgent Computed Tomography (CT) scan of the brain was performed, depicting a giant, spherical and well-defined unilocular cyst, CSF iso-dense, involving the right temporoparietal lobe and causing midline shift with dilatation of the contralateral ventricle. Diagnosis of IHC was presumed, but additional considerations in differential diagnosis included brain abscess, cystic astrocytoma or arachnoid cyst. Further evaluation with brain Magnetic Resonance Imaging did not show perilesional oedema or ring-enhancement, and total surgical cyst excision was decided. Histopathology of the excised mass confirmed the diagnosis of Echinococcus granulosus, and the postoperative course was uneventful. Interestingly, anti-Echinococcus ELISA was negative, and the rest of the laboratory tests were unremarkable, including eosinophilic count and liver enzymes. Chest radiography and abdominal sonography were normal; nevertheless, further CT investigation is needed to exclude primary localisation of echinococcosis in other organs.

LEARNING POINTS DISCUSSION: IHC should be considered in children with cystic brain lesions, especially in endemic countries. Our patient was initially managed for gastrointestinal symptoms, but suspicion of IHC was raised soon after arrival in ED based on thorough physical examination and neuroimaging. In children, IHC can grow to enormous size without showing significant symptoms due to the elasticity of skull bones and compressibility of the neural tissue, and serum laboratory exams may have minimal diagnostic significance, as brain tissue evokes minimal response.



 
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