scholarly journals Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Xin Li ◽  
Ying Li ◽  
Min Lei ◽  
Jing Tian ◽  
Zuocheng Yang ◽  
...  
Keyword(s):  
Neonatal Intensive Care ◽  
Neonatal Period ◽  
Novel Mutation ◽  
Gene Mutations ◽  
Neonatal Intensive Care Units ◽  
Term Neonates ◽  
Case Presentation ◽  
Neonatal Thrombocytopenia ◽  
Inherited Thrombocytopenia ◽  
Compound Heterozygotes

Abstract Background Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations. Case presentation Here we report a case of twins with severe inherited thrombocytopenia presented in the neonatal period who were shown to be compound heterozygotes for 2 UDP-N-acetylglucosamine 2-epimerase (GNE) gene mutations, c.1351C > T and c.1330G > T, of which c.1330G > T is a novel mutation. Conclusion These two GNE mutations may help in the diagnosis and management of thrombocytopenia diagnosed in neonates.

Outcome of neonatal thrombocytopenia in tertiary care NICU

2020 ◽  
Vol 10 (3) ◽  
pp. 92-96
Author(s):  
Deepak Madhavi ◽  
Shamama Subuhi ◽  
Mohammed Zubai
Keyword(s):  
Risk Factor ◽  
Neonatal Intensive Care ◽  
Neonatal Period ◽  
Tertiary Care ◽  
Neonatal Intensive Care Units ◽  
Severe Thrombocytopenia ◽  
Maternal Risk ◽  
Intracranial Bleed ◽  
Study Population ◽  
Neonatal Thrombocytopenia

Thrombocytopenia is one of the commonest haematological disorders in the neonatal period, affecting up to a third of those admitted to neonatal intensive care units. It is well recognized that many fetomaternal and neonatal conditions are associated with thrombocytopenia. The majority of episodes of neonatal thrombocytopenia are relatively mild, self-limiting and of short duration but it may cause severe morbidity & mortality due to severe complication like IVH. Methods & material: 140 Newborn admitted in tertiary care NICU were selected to find out outcome and etiology of neonatal thrombocytopenia. Detail maternal history and neonatal physical examination done and Neonates were followed for outcome, relevant investigation done according to cases. Result: Out of 140 neonates 63 neonates had thrombocytopenia (45%).42.8% neonates were premature out of which 63.3% had thrombocytopenia. Other neonatal risk factor for thrombocytopenia are sepsis 38 (74.5%), SGA/IUGR 28(80%) and NEC 9(100%). Maternal risk factor for thrombocytopenia are eclampsia81.8% and infection during pregnancy 72.72%. 95.5 % of all study population were discharged.4.5 % cases of whole study population didn’t survive. 4.54% of mild, 9.09% of moderate and 60 % of severe thrombocytopenic babies didn’t survive. Conclusion: Bleeding manifestations i.e. mucosal, cutaneous and intracranial bleed were significantly associated with severe thrombocytopenia. 60% of mortality was found in severe thrombocytopenic group. Thus, severe thrombocytopenia was found to be a predictor of poor outcome in sick neonates of NICU.

scholarly journals Determinants of preterm infants’ deaths at the Neonatal Intensive Care Units in the Northeast Countryside in Brazil

2020 ◽  
Vol 20 (2) ◽  
pp. 535-544
Author(s):  
Raquel Gomes Lima ◽  
Verônica Cheles Vieira ◽  
Danielle Souto de Medeiros
Keyword(s):  
Mechanical Ventilation ◽  
Preterm Infants ◽  
Neonatal Intensive Care ◽  
Distress Syndrome ◽  
Neonatal Period ◽  
Invasive Mechanical Ventilation ◽  
Pulmonary Hemorrhage ◽  
Neonatal Intensive Care Units ◽  
Early Weaning ◽  
Neonatal Icu

Abstract Objectives: to assess preterm infants’ characteristics, health conditions and neonatal care effect on their death at the neonatal ICU. Methods: this was a non-concurrent cohort study, including preterm infants from three neonatal ICUs from January 1st to December 31st, 2016, followed during the neonatal period and deaths registered during the entire hospitalization. Multivariate analysis was performed using Poisson regression. Results: of the 181 preterm infants, 18.8% died during hospitalization. Associated with the outcome: a gestational age between 28 and 32 weeks (RR= 5.66; CI95%= 2.08-15.40), and less than 28 weeks (RR=9.24; CI95%=3.27-26.12), Apgar score of 5th minutes less than 7 (RR: 1.82; CI95%=1.08-3.08), use of invasive mechanical ventilation up to 3 days (RR= 4.44; CI95%= 1.66-11.87) and 4 days and more (RR=6.87; CI95%=2.58-18.27). Besides the late sepsis (RR: 3.72, CI95%=1.77-7.83), acute respiratory distress syndrome (RR=2.86, CI95%=1.49-5.46), pulmonary hemorrhage (RR=1.97; CI95%=1.40-2.77), and necrotizing enterocolitis (RR= 3.41; CI95%=1.70-6.83). Conclusions: the results suggest the importance of using strategies to improve care during childbirth, conditions for extremely premature infants, early weaning from a mechanical ventilation and prevention on nosocomial infection.

α-Fetoprotein Normal Values

PEDIATRICS ◽  
1989 ◽  
Vol 83 (4) ◽  
pp. 640-640
Author(s):  
MUSA K. CAGLAR ◽  
J. A.J.M. BAKKEREN ◽  
WIL B. GEVEN
Keyword(s):  
Intensive Care ◽  
Neonatal Intensive Care ◽  
Neonatal Period ◽  
Normal Values ◽  
Term Neonates ◽  
Premature Babies ◽  
Letter To The Editor

We recently read the letter to the editor written by Gale et al. As a result of the remarkable improvements in neonatal intensive care, an increasing number of premature babies are now able to survive beyond the neonatal period. Therefore, there also seems to be a great need to know the normal values of α-fetoprotein in these babies that were not fully mentioned in that article. Goraya et al reported plasma α-fetoprotein levels in premature babies of various gestational ages, including some term neonates.

scholarly journals A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Aleksandra Dudzik ◽  
Weronika Nedza ◽  
Katarzyna Końska ◽  
Katarzyna Starzec ◽  
Tomasz Tomasik ◽  
...  
Keyword(s):  
Neonatal Intensive Care ◽  
Novel Mutation ◽  
Diagnostic Process ◽  
Facial Features ◽  
Centronuclear Myopathy ◽  
Feeding Disorder ◽  
Case Presentation ◽  
Variant Of Uncertain Significance ◽  
Current State ◽  
Uncertain Significance

Abstract Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient from Neonatal Intensive Care Unit, who presented symptoms of congenital myopathy. After eliminating many other possible causes, he was eventually proven to bear a c.197C>G, p.(Thr66Arg) MTM1 mutation, a variant of uncertain significance, never described in the literature before. Family of the patient underwent the same genetic tests that proved the mother to be the carrier of mutation. Conclusion The article is a first report on abovementioned, newly discovered mutation in MTM1 gene, with high probability leading to the centronuclear myopathy phenotype. It also summarizes the diagnostic process and current state of knowledge about the therapy and prognosis for children with XLMTM. The authors hope that the findings will contribute to the diagnostic process of subsequent patients.

scholarly journals Therapeutic guidelines for prescribing antibiotics in neonates should be evidence-based: a French national survey

2015 ◽  
Vol 100 (4) ◽  
pp. 394-398 ◽  
Author(s):  
Stéphanie Leroux ◽  
Wei Zhao ◽  
Pierre Bétrémieux ◽  
Patrick Pladys ◽  
Elie Saliba ◽  
...  
Keyword(s):  
Intensive Care ◽  
Continuous Infusion ◽  
Neonatal Intensive Care ◽  
Penicillin G ◽  
Neonatal Intensive Care Units ◽  
Evidence Based ◽  
Term Neonates ◽  
Dosage Regimens ◽  
Therapeutic Guidelines ◽  
Dosing Intervals

ObjectiveThis survey aims to describe and analyse the dosage regimens of antibiotics in French neonatal intensive care units (NICUs).MethodsSenior doctors from 56 French NICUs were contacted by telephone and/or email to provide their local guidelines for antibiotic therapy.Results44 (79%) NICUs agreed to participate in this survey. In total, 444 dosage regimens were identified in French NICUs for 41 antibiotics. The number of different dosage regimens varied from 1 to 32 per drug (mean 9, SD 7.8). 37% of intravenous dosage regimens used a unique mg/kg dose from preterm to full-term neonates. Doses and/or dosing intervals varied significantly for 12 antibiotics (amikacin, gentamicin, netilmicin, tobramycin, vancomycin administered as continuous infusion, ceftazidime, cloxacillin, oxacillin, penicillin G, imipenem/cilastatin, clindamycin and metronidazole). Among these antibiotics, 6 were used in more than 70% of local guidelines and had significant variations in (1) maintenance daily doses for amikacin, imipenem/cilastatin, ceftazidime and metronidazole; (2) loading doses for continuous infusion of vancomycin; and (3) dosing intervals for gentamicin and amikacin.ConclusionsA considerable inter-centre variability of dosage regimens of antibiotics exists in French NICUs. Developmental pharmacokinetic–pharmacodynamic studies are essential for the evaluation of antibiotics in order to establish evidence-based dosage regimens for effective and safe administration in neonates.

Scimitar syndrome – a case report

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Liliana Sá ◽  
Tatiana Pereira ◽  
Ana B. Ferreira ◽  
Alcinda Reis ◽  
António J. Madureira ◽  
...  
Keyword(s):  
Respiratory Distress ◽  
Neonatal Intensive Care ◽  
Pulmonary Hypoplasia ◽  
Neonatal Period ◽  
Venous Drainage ◽  
Scimitar Syndrome ◽  
Caval Vein ◽  
Case Presentation ◽  
Inferior Caval Vein ◽  
The Right

Abstract Objectives The aim of this article is to describe a clinical case of Scimitar syndrome, an unusual cause of respiratory distress in the neonatal period. This syndrome is a rare form of partial or total anomalous right lung venous drainage to the inferior caval vein, usually associated with right pulmonary hypoplasia. Case presentation The authors report a case of a 36-week-old newborn admitted to the neonatal intensive care unit with worsening respiratory distress. Chest radiography revealed a characteristic right pulmonary hypoplasia and a tubular structure paralleling the right heart border in the shape of a Turkish sword (“scimitar”). Chest computed tomography angiography confirmed the diagnosis. Conclusions Age of presentation and the severe malformations found, contributed to the patient’s poor outcome in this case.

Sign in / Sign up

Export Citation Format

Share Document