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We report a case of prolonged post-operative stridor in a full-term neonate who was operated for tracheoesophageal fistula. Initial evaluation including an endoscopy and contrast-enhanced computed tomography scan was normal. Repeat endoscopic evaluation under anesthesia revealed tight aryepiglottic folds. Aryepiglottic split was performed and stridor improved dramatically. Tight aryepiglottic folds should be kept in differential diagnosis in a case of postoperative stridor in an infant.
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Laringomalácia/diagnóstico , Complicações Pós-Operatórias/diagnóstico , Sons Respiratórios/etiologia , Fístula Traqueoesofágica/cirurgia , Broncoscopia/métodos , Diagnóstico Diferencial , Humanos , Recém-Nascido , Músculos Laríngeos , Laringomalácia/etiologia , Laringomalácia/cirurgia , Laringoscopia/métodos , Masculino , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Respiração Artificial/métodosRESUMO
Recent technological strides, including high-frequency probes and lung ultrasound, have become a crucial non-invasive diagnostic tool in neonatal care, revolutionizing how respiratory conditions are assessed in the neonatal intensive care unit (NICU). High-frequency probes and portable devices significantly enhance the effectiveness of lung ultrasound in identifying respiratory distress syndrome (RDS), pneumonia, and pneumothorax, and underscore its growing significance. This comprehensive review explores the historical journey of lung ultrasonography, technological advancements, contemporary applications in neonatal care, emerging trends, and collaborative initiatives, and foresees a future where personalized healthcare optimizes outcomes for neonates.
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BACKGROUND: Spinal muscular atrophy (SMA) is a fatal autosomal recessive disorder for which several treatment options, including a gene therapy, have become available. SMA incidence has not been well-characterized in most Arab countries where rates of consanguinity are high. Understanding SMA disease epidemiology has important implications for screening, prevention, and treatment in those populations. METHODS: We perform SMA diagnostic testing in a clinical multi-national patient cohort (N = 171) referred for hypotonia and/or muscle weakness. In addition, we carry out genetic newborn screening for SMA on 1502 healthy Emirati newborns to estimate the carrier frequency and incidence of the disease in the United Arab Emirates. RESULTS: Patients referred for SMA genetic testing are mostly Arabs (82%) representing 18 countries. The overall diagnostic yield is 33.9%, which is higher (>50%) for certain nationalities. Most patients (71%) has two SMN2 copies and earlier disease onset. For the first time, we estimate SMA carrier frequency (1.3%) and incidence of the disease (1 in 7122 live births) in the United Arab Emirates. Using birth and marriage rates in two Arab populations (United Arab Emirates and Saudi Arabia), as well as disease incidence in both countries, we show that, besides preventing new cases, premarital genetic screening could potentially result in around $8 to $324 million annual cost savings, respectively, relative to postnatal treatment. CONCLUSIONS: The SMA carrier frequency and incidence we document suggests high potential benefit for universal implementation of premarital genomic screening for a wide range of recessive disorders in Arab populations.
The occurrence of spinal muscular atrophy, a fatal genetic nerve and muscle disease, has been poorly studied in most Arab countries. Individuals who carry a single mutated gene copy (carriers) may be more likely to marry other carriers in regions where marriage rates amongst relatives, who share similar genetics, are high. Here we report the results of a newborn testing program for this disease in 1502 Emiratis and calculate the presence of carriers (1/79) and occurrence of disease (1/7122) in this population. Using this new information along with the annual birth and marriage rates in the United Arab Emirates and Saudi Arabia, we make the case that premarital genomic screening (carrier testing) is the best way to prevent this and other similarly inherited disorders in the Arab population.
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Although many musical intervention studies exist in the wider framework of neuroscience and psychology, the preliminary importance of feasibility studies is rarely discussed. Adding to this fact the limited research existing on the therapeutic and restorative potential of music exposure during early developmental periods, pushed us to concentrate on investigating newborns' perception of music and its impact on the brain. Here, we explore the feasibility of a randomized controlled trial (RCT) approach when measuring and comparing the neurophysiological perception of music versus language on the brainstem of newborns using auditory brainstem response (ABR). Twenty-five healthy full-term infants were recruited, eight of which were measured within their first 10 days postpartum. The evaluation of the study's feasibility appealed to five main objectives that essentially answer the question: Can our protocol work? Each objective proposes questions based on Orsmond and Cohn's guiding framework, designed to assess, and assist feasibility in understanding barriers toward a study's success. Our results justify that newborns are well capable of undergoing the study and given meticulous considerations and improvements on the intervention resources. The procedure's communication and technical obstacles are resoluble. Moreover, assimilation of external factors to adapt, such as the culture variation and the ABR protocol implementation are necessary. The study was well received in the selected region (Middle East), and the recording procedure showed potential outcomes for a comprehensive RCT.
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BACKGROUND: Nasal continuous positive airway pressure (nCPAP) is the standard noninvasive respiratory support for newborns with respiratory distress. Evidence for high-flow nasal cannula (HFNC) as an alternative mode of respiratory support is inconclusive. OBJECTIVE: The aim of this work was to evaluate whether HFNC is not inferior to nCPAP in reducing the need for higher respiratory support in the first 72 h of life when applied as a noninvasive respiratory support mode for preterm neonates with respiratory distress. METHODS: Preterm infants (gestation ≥28 weeks and birth weight ≥1,000 g) with respiratory distress were randomized to either HFNC or nCPAP in a non-inferiority trial. Failure of the support mode in the first 72 h after birth was the primary outcome. Infants failing HFNC were rescued either with nCPAP or mechanical ventilation, and those failing nCPAP received mechanical ventilation. RESULTS: During the study period, 139 and 133 infants were randomized to the nCPAP and HFNC groups, respectively. The study was stopped after an interim analysis showed a significant difference (p < 0.001) in the primary outcome between the 2 groups. The treatment failure was significantly higher in the HFNC group (HFNC, n = 35, 26.3%, vs. CPAP, n = 11, 7.9%, risk difference 18.4 percentage points, 95% CI 9.7-27). Among the infants in the HFNC group who had treatment failure (n = 35), 32 were initially rescued with CPAP. The rate of mechanical ventilation in the first 3 and 7 days of life was similar between the 2 groups. Treatment failure was significantly higher in the HFNC group per protocol and also in the subgroups of infants with moderate (Silverman Anderson score, SAS ≤5) or severe respiratory distress (SAS score >5). CONCLUSIONS: When comparing HFNC to nCPAP as a primary noninvasive respiratory support in preterm infants with respiratory distress, HFNC is inferior to nCPAP in avoiding the need for a higher mode of respiratory support in the first 72 h of life.
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Pressão Positiva Contínua nas Vias Aéreas/métodos , Oxigenoterapia/métodos , Síndrome do Desconforto Respiratório do Recém-Nascido/mortalidade , Síndrome do Desconforto Respiratório do Recém-Nascido/terapia , Cânula , Pressão Positiva Contínua nas Vias Aéreas/efeitos adversos , Feminino , Humanos , Índia/epidemiologia , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Nariz , Oxigenoterapia/efeitos adversos , Análise de Sobrevida , Falha de TratamentoRESUMO
The repair of nerve gap injuries longer than 3â¯cm is limited by the need to sacrifice donor tissue and the morbidity associated with the autograft gold standard, while decellularized grafts and biodegradable conduits are effective only in short nerve defects. The advantage of isogenic nerve implants seems to be the release of various growth factors by the denervated Schwann cells. We evaluated the effect of vascular endothelial growth factor, neurotrophins, and pleiotrophin (PTN) supplementation of multi-luminal conduits, in the repair of 3 and 4â¯cm nerve gaps in the rabbit peroneal nerve. In vitro screening revealed a synergistic regenerative effect of PTN with glial-derived neurotrophic factor (GDNF) in promoting sensory axon density, and motor axonal growth from spinal cord explants. In vivo, pleiotrophins were able to support nerve regrowth across a 3â¯cm gap. In the 4â¯cm lesions, PTN-GDNF had a modest effect in the number of axons distal to the implant, while increasing the mean axon diameter (1⯱â¯0.4; pâ¯≤â¯0.001) over PTN or GDNF alone (0.80⯱â¯0.2, 0.84⯱â¯0.5; respectively). Some regenerated axons reinnervated muscle targets as indicated by neuromuscular junction staining. However, many were wrapped in Remak bundles, suggesting a delay in axonal sorting, explaining the limited electrophysiological function of the reinnervated muscle, and the modest recovery in toe spreading in the PTN-GDNF repaired animals. These results support the use of synergistic neurotrophic/pleiotrophic growth factors in long gap repair and underscore the need for re-myelination strategies distal to the injury site. STATEMENT OF SIGNIFICANCE: Nerve injuries due to trauma or tumor resection often result in long gaps that are challenging to repair. The best clinical option demands the use of autologous grafts that are associated with serious side effects. Bioengineered nerves are considered a good alternative, particularly if supplemented with growth factors, but current options do not match the regenerative capacity of autografts. This study revealed the synergistic effect of neurotrophins and pleiotrophins designed to achieve a broad cellular regenerative effect, and that GDNF-PTN are able to mediated axonal growth and partial functional recovery in a 4â¯cm nerve gap injury, albeit delays in remyelination. This report underscores the need for defining an optimal growth factor support for biosynthetic nerve implants.
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Axônios/metabolismo , Proteínas de Transporte/farmacologia , Citocinas/farmacologia , Regeneração Nervosa/efeitos dos fármacos , Neuregulina-1/farmacologia , Nervo Fibular/lesões , Nervo Fibular/fisiopatologia , Animais , Axônios/efeitos dos fármacos , Sinergismo Farmacológico , Potenciais Evocados/efeitos dos fármacos , Camundongos , Atividade Motora/efeitos dos fármacos , Músculos/efeitos dos fármacos , Músculos/inervação , Nervo Fibular/efeitos dos fármacos , Nervo Fibular/patologia , Coelhos , Recuperação de Função Fisiológica/efeitos dos fármacos , Fator A de Crescimento do Endotélio Vascular/farmacologiaRESUMO
OBJECTIVE: To evaluate the role of prophylactic propranolol in the prevention of retinopathy of prematurity (ROP) in infants ≤32â weeks of gestational age and their visual outcome at 1â year of corrected gestational age. DESIGN: Randomised double blind placebo controlled trial, parallel group nrolment with allocation ratio of 1:1. SETTINGS: Two level III neonatal intensive care units. PARTICIPANTS: 109 preterm neonates of ≤32â weeks of gestation with postnatal age ≤8â days old. INTERVENTION: Study group: Infants with gestational age between 26 and 32â weeks were started on propranolol prophylaxis (0.5â mg/kg/dose every 12 hours) on seventh completed day of life, till a corrected gestational age of 37â weeks or complete vascularisation of retina whichever was later. Control group infants received a placebo. OUTCOME MEASURES: Primary: ROP of all grades; Secondary: evaluation of complications due to propranolol, ROP needing treatment with laser and/or antivascular endothelial growth factor (anti-VEGF) and visual outcome at 12â months corrected age. RESULTS: Prophylactic propranolol in the prescribed dose of 1â mg/kg/day showed a decreasing trend in the incidence of ROP (56.8% vs 68.6%; p=0.39), need for laser therapy (21.56% vs 31.37%; p=0.37), treatment with anti-VEGF (3.92% vs 15.68%; p=0.09) or visual outcomes at 1â year in the study and control groups, respectively, though these reductions were not statistically significant. Decreasing trends favouring propranolol in all other ROP-related outcomes were also noted in the study group. CONCLUSIONS: Prophylactic propranolol in the prescribed dose of 1â mg/kg/day showed a decreasing trend in all outcomes of ROP though statistically not significant. TRIAL REGISTRATION NUMBER: CTRI/2013/11/004131.
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Recém-Nascido Prematuro , Propranolol/administração & dosagem , Retinopatia da Prematuridade/prevenção & controle , Vasodilatadores/administração & dosagem , Método Duplo-Cego , Uso de Medicamentos/estatística & dados numéricos , Feminino , Idade Gestacional , Humanos , Índia/epidemiologia , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Terapia a Laser/estatística & dados numéricos , Masculino , Retinopatia da Prematuridade/epidemiologia , Fatores de Crescimento do Endotélio Vascular/antagonistas & inibidoresRESUMO
OBJECTIVE: To compare the efficacy of enteral paracetamol and intravenous indomethacin for closure of patent ductus arteriosus (PDA) in preterm neonates. DESIGN: Randomized controlled trial. SETTING: Level III neonatal intensive care unit. PARTICIPANTS: 77 preterm neonates with birth weight ?1500 g and PDA size ?1.5 mm, with left to right ductal flow with left atrium to aortic root ratio >1.5:1; diagnosed by 2D-Echo within first 48 hours of life. INTERVENTION: Paracetamol drops through the infant feeding tube (15 mg/kg/dose 6 hourly for 7 days) or intravenous indomethacin (0.2 mg/kg/dose once daily for 3 days). OUTCOME MEASURES: Primary: PDA closure rate assessed by echocardiography. Secondary: need for surgical closure of PDA, renal impairment, gastrointestinal bleed, necrotising enterocolitis, hepatotoxicity, pulmonary hemorrhage, sepsis, hypothermia, retinopathy of prematurity, intraventricular hemorrhage, bronchopulmonary dysplasia and mortality. RESULTS: PDA closure rate was 100% (36/36) in enteral paracetamol group as compared to 94.6% (35/37) in intravenous indomethacin group (P=0.13). The secondary outcomes were also similar between the two groups. There was no occurrence of hepatotoxicity. CONCLUSIONS: Enteral paracetamol is safe but not superior to intravenous indomethacin in the treatment of PDA in preterm neonates.