La sindrome di Zellweger: un lavoro di squadra

A 1-month female infant with hypotonia, feeding difficulties, facial dysmorphic signs, hepatomegaly and seizures was admitted to the neonatal intensive care unit. Brain magnetic resonance revealed regions of cortical dysplasia, diffuse polymicrogyria (prominent in the frontal and perisylvian cortex), reduction of white matter volume, delayed myelination and germinolytic cysts. The result of the plasma dosage of very long chain fatty acids was very high. Genetic testing revealed a homozygous pathogenetic mutation of the HSD17B4 gene. Thus, clinical features together with biochemical and genetic findings led to the diagnosis of Zellweger spectrum disorder (ZSD). ZSD is included in peroxisome biogenesis disorders. Before the biochemical and molecular bases had been fully determined, ZSD was defined by a continuum of three phenotypes: Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. To identify a continuum of severity of the disease, the terms “severe,” “intermediate” and “milder” ZSD are now preferred. The individuals with ZSD mainly come to clinical attention in the newborn period or in childhood. Occasionally, the subtlety of symptoms delays diagnosis until adulthood. There is not specific therapy, in the severe ZSD prognosis is poor and survival is usually not beyond the first year of life.

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Respiratory morbidity in the first year of life of preterm infants discharged from a neonatal intensive care unit

Jornal de Pediatria ◽

10.2223/1265 ◽

2004 ◽

Vol 80 (6) ◽

pp. 503-510 ◽

Cited By ~ 5

Author(s):

Rosane R. de Mello ◽

Maria Virgínia P. Dutra ◽

José Maria de A. Lopes

Keyword(s):

Intensive Care Unit ◽

Intensive Care ◽

Neonatal Intensive Care Unit ◽

Preterm Infants ◽

Neonatal Intensive Care ◽

Respiratory Morbidity ◽

First Year ◽

First Year Of Life

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Publisher Correction: Neonatal intensive care unit (NICU) exposures exert a sustained influence on the progression of gut microbiota and metabolome in the first year of life

Scientific Reports ◽

10.1038/s41598-021-88758-8 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Polly Soo Xi Yap ◽

Chun Wie Chong ◽

Azanna Ahmad Kamar ◽

Ivan Kok Seng Yap ◽

Yao Mun Choo ◽

...

Keyword(s):

Intensive Care Unit ◽

Intensive Care ◽

Gut Microbiota ◽

Neonatal Intensive Care Unit ◽

Neonatal Intensive Care ◽

First Year ◽

First Year Of Life

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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Maternal Anxiety and Depression and Development of Prematurely Born Infants in the First Year of Life

The Spanish Journal of Psychology ◽

10.1017/s1138741600004601 ◽

2008 ◽

Vol 11 (2) ◽

pp. 600-608 ◽

Cited By ~ 9

Author(s):

Ana Emilia Vita Carvalho ◽

Francisco Eulógio Martinez ◽

Maria Beatriz Martins Linhares

Keyword(s):

Neonatal Intensive Care ◽

Normal Development ◽

Clinical Symptoms ◽

Anxiety And Depression ◽

Depression Symptoms ◽

First Year ◽

Term Infants ◽

Motor Problems ◽

First Year Of Life ◽

Cognitive Problems

The purpose of this study was: (a) to assess and to compare anxiety and depression symptoms in mothers of pre-term neonates during hospitalization in the Neonatal Intensive Care Unit, after discharge, and at the end of the infants' first year of life; and (b) to assess the child's development at 12 months of chronological corrected age (CCA). Thirty-six mothers, with no psychiatric antecedents assessed with the SCID-NP, were evaluated by STAI and BDI. The infants were assessed with Bayley-II Scales. There was a significant decrease in clinical symptoms of state-anxiety in mothers (p = .008), comparing the period during hospitalization and after discharge of the infants. Clinical symptoms of anxiety and depression were observed in 20% of the mothers at the end of the infants' first year of age. The majority of the infants exhibited normal development on Bayley-II at 12 months CCA; however, 25% of the infants displayed cognitive problems and 40% motor problems. The mothers' anxiety and depression symptoms decreased at the end of the first year of life of the pre-term infants and the children showed predominately normal development at this phase.

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Neonatal Diabetes Mellitus in the Structure of IPEX Syndrome

Pediatrician (St Petersburg) ◽

10.17816/ped8299-104 ◽

2017 ◽

Vol 8 (2) ◽

pp. 99-104

Author(s):

Mariia E Turkunova ◽

Liliya V Ditkovskaya ◽

Evgenii N Suspitsin ◽

Ludmila V Tyrtova ◽

Ludmila A Jelenina ◽

...

Keyword(s):

Diabetes Mellitus ◽

Clinical Manifestations ◽

Neonatal Diabetes ◽

Skin Lesions ◽

Neonatal Diabetes Mellitus ◽

First Year ◽

Permanent Neonatal Diabetes ◽

Severity Of The Disease ◽

Clinical Triad ◽

First Year Of Life

This disease is characterized by the onset of primary immunodeficiency, which expresses itself as autoimmune multisystem failure, often clinically manifests during the first year of life; there are only about 150 cases in the world described by now. IPEX syndrome is caused by FOXP3 gene defect, which is a transcription factor that affects the activity of regulatory T-cells responsible for the maintenance of aytotolerance. There are around 70 pathogenic mutations in this gene described so far. Most patients with IPEX-syndrome have a clinical manifestations of the disease in the early neonatal period or during the first 3-4 months of life. For this disease the following clinical triad of manifestations is typical: Autoimmune enteropathy (100%), diabetes mellitus (70%), skin lesions (65%), as in the syndrome structure includes severe developmental delay (50%), thyroid disease (30%), recurrent infections (20%), rarer autoimmune cytopenia (Coombs-positive hemolytic anemia), pneumonia, nephritis, hepatitis, artrit, myositis, alopecia. However, some cases of later manifestations were described (in patients of more than 1 year of age) when patients did not show all clinical and laboratory symptoms typical for severe forms of the disease. Due to the severity of the disease and the high mortality in this group of patients, it is very important to diagnose it early and start therapy timely. The article describes a clinical case of permanent neonatal diabetes mellitus in the structure of IPEX syndrome.

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Respiratory morbidity in the first year of life of preterm infants discharged from a neonatal intensive care unit

Jornal de Pediatria ◽

10.2223/jped.1265 ◽

2004 ◽

Vol 80 (6) ◽

pp. 503-510

Author(s):

Rosane R. de Mello ◽

Maria Virgínia P. Dutra ◽

José Maria de A. Lopes

Keyword(s):

Intensive Care Unit ◽

Intensive Care ◽

Neonatal Intensive Care Unit ◽

Preterm Infants ◽

Neonatal Intensive Care ◽

Respiratory Morbidity ◽

First Year ◽

First Year Of Life

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In Situ and Home Care Nasopharyngeal Intubation Improves Respiratory Condition and Prevents Surgical Procedures in Early Infancy of Severe Cases of Robin Sequence

BioMed Research International ◽

10.1155/2015/608905 ◽

2015 ◽

Vol 2015 ◽

pp. 1-7 ◽

Cited By ~ 6

Author(s):

Isabel Cristina Drago Marquezini Salmen ◽

Ilza Lazarini Marques

Keyword(s):

Surgical Procedures ◽

Treatment Protocol ◽

Early Infancy ◽

Morbidity And Mortality ◽

First Year ◽

Severe Respiratory Distress ◽

Feeding Difficulties ◽

Hospitalization Time ◽

Robin Sequence ◽

First Year Of Life

Aim. To evaluate the clinical outcome of infants with Robin Sequence (RS) and severe respiratory obstruction managed with nasopharyngeal intubation (NPI).Methods. This prospective study was conducted with 107 infants with RS admitted to the Hospital for Craniofacial Anomalies of the University of São Paulo (HRAC-USP), from July 2003 to June 2010, diagnosed with severe RS and treated with NPI. The infants were followed up for the first year of life. Clinical findings, morbidity, and mortality were recorded.Results. Of the 223 infants with RS admitted to the hospital in the period studied, 149 were diagnosed with severe respiratory distress and 107 (71.81%) matched all the inclusion criteria. Of those, 78 (73%) presented Isolated Robin Sequence and 29 (27%) presented other syndromes or anomalies associated with RS. NPI treatment lasted an average of 57 days and the mean hospitalization time was 18 days. Although all infants presented feeding difficulties, 85% were fed orally and only 15% underwent gastrostomy. Morbidity was 14% and no deaths occurred.Conclusions. The children treated with the RS treatment protocol adopted at the HRAC-USP had improved respiratory and feeding difficulties, required a shorter hospitalization time, and presented low morbidity and mortality during the first year of life. The general outcome prevented surgical procedures in early infancy.

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Hospital admissions in the first year of life: inequalities over three decades in a southern Brazilian city

International Journal of Epidemiology ◽

10.1093/ije/dyy228 ◽

2019 ◽

Vol 48 (Supplement_1) ◽

pp. i63-i71 ◽

Cited By ~ 4

Author(s):

Fernando C Wehrmeister ◽

Cesar G Victora ◽

Bernardo L Horta ◽

Ana M B Menezes ◽

Iná S Santos ◽

...

Keyword(s):

Neonatal Intensive Care ◽

Family Income ◽

Hospital Admissions ◽

Population Based ◽

Income Quintile ◽

First Year ◽

Birth Cohorts ◽

Admission Rates ◽

Hospital Births ◽

First Year Of Life

Abstract Background Hospital admissions in infancy are declining in several countries. We describe admissions to neonatal intensive care units (NICU) and other hospitalizations over a 33-year period in the Brazilian city of Pelotas. Methods We analysed data from four population-based birth cohorts launched in 1982, 1993, 2004 and 2015, each including all hospital births in the calendar year. NICU and other hospital admissions during infancy were reported by the mothers in the perinatal interview and at the 12-month visit, respectively. We describe these outcomes by sex of the child, family income and maternal skin colour. Results In 1982, NICUs did not exist in the city; admissions into NICUs increased from 2.7% of all newborns in 1993 to 6.7% in 2015, and admission rates were similar in all income groups. Hospitalizations during the first year of life fell by 29%, from 23.7% in 1982 to 16.8% in 2015, and diarrhoea admissions fell by 95.2%. Pneumonia admissions fell by 46.3% from 1993 to 2015 (no data available for 1982). Admissions due to perinatal causes increased during the period. In the poorest income quintile, total admissions fell by 33% (from 35.7% to 23.9%), but in the richest quintile these remained stable at around 10%, leading to a reduction in inequalities. Over the whole period, children born to women with black or brown skin were 30% more likely to be admitted than those of white-skinned mothers. Conclusions Whereas NICU admissions increased, total admissions in the first year of life declined by nearly one-third. Socioeconomic disparities were reduced, but important gaps remain.

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Back Transfer of Infants with Tracheostomies: A Regional Center Experience

Journal of Pediatric Intensive Care ◽

10.1055/s-0041-1730929 ◽

2021 ◽

Author(s):

Mohammad A. Attar ◽

Rachael A. Pace ◽

Robert E. Schumacher

Keyword(s):

Intensive Care Unit ◽

Intensive Care ◽

Neonatal Intensive Care ◽

Pediatric Intensive Care ◽

Patient Characteristics ◽

First Year ◽

Regional Center ◽

Transferred Patients ◽

First Year Of Life ◽

Back Transfer

AbstractWe describe our center's experience with the back transfer of infants following tracheostomies. We conducted a retrospective cohort study of infants transferred to pediatric critical care units of our regional center with conditions originating in the neonatal period who underwent tracheostomy during the hospitalization within their first year of life between 2006 and 2017. Recovering patients are discharged home or transferred back to the referring hospitals. We evaluated patient characteristics, destination of discharge and type of pulmonary support at discharge, and mechanical ventilation (MV) or tracheotomy masks (TM). Of the 139 included patients, 72% were transferred to the neonatal intensive care unit, 21% to the pediatric cardiothoracic unit, and 7% to the pediatric intensive care unit. Their median gestational age was 35 weeks. They were admitted at a median 22 days of life and lived at a median distance of 56 miles from our center. Furthermore, 34 infants (24%) were back transferred closer to their homes (23 with MV and 11 with TM), and 84 (60%) were discharged home (53 on MV and 31 on TM). Twenty-one patients (15%) died in the hospital (before discharge or transfer). Back transferred patients on MV had a significantly shorter duration between tracheostomy and transfer compared with those discharged home from our center: MV (median = 22 vs. 103 days, p < 0.0001) and TM (median = 13 vs. 35 days, p < 0.0001). Back transfer of infants with tracheostomies closer to their homes was associated with a significantly shorter hospitalization and more efficient use of the subspecialized resources at the RC.

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The Development of Swallowing Respiratory Coordination

Perspectives on Swallowing and Swallowing Disorders (Dysphagia) ◽

10.1044/sasd18.1.19 ◽

2009 ◽

Vol 18 (1) ◽

pp. 19-24

Author(s):

Maggie-Lee Huckabee

Keyword(s):

Cortical Activation ◽

First Year ◽

Healthy Children ◽

Nasal Airflow ◽

Single Session ◽

Primary Finding ◽

Patterns Of Behavior ◽

Cortical Modulation ◽

First Year Of Life ◽

Swallowing Apnea

Abstract Research exists that evaluates the mechanics of swallowing respiratory coordination in healthy children and adults as well and individuals with swallowing impairment. The research program summarized in this article represents a systematic examination of swallowing respiratory coordination across the lifespan as a means of behaviorally investigating mechanisms of cortical modulation. Using time-locked recordings of submental surface electromyography, nasal airflow, and thyroid acoustics, three conditions of swallowing were evaluated in 20 adults in a single session and 10 infants in 10 sessions across the first year of life. The three swallowing conditions were selected to represent a continuum of volitional through nonvolitional swallowing control on the basis of a decreasing level of cortical activation. Our primary finding is that, across the lifespan, brainstem control strongly dictates the duration of swallowing apnea and is heavily involved in organizing the integration of swallowing and respiration, even in very early infancy. However, there is evidence that cortical modulation increases across the first 12 months of life to approximate more adult-like patterns of behavior. This modulation influences primarily conditions of volitional swallowing; sleep and naïve swallows appear to not be easily adapted by cortical regulation. Thus, it is attention, not arousal that engages cortical mechanisms.

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