Skeletal dysplasia: Respiratory management during infancy

Alapati, Deepthi; Shaffer, Thomas H.

doi:10.1016/j.rmed.2017.07.063

Cited by 23 publications

(21 citation statements)

References 64 publications

(76 reference statements)

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“…Es frecuente encontrar alteraciones respiratorias asociadas o no a hipoplasia pulmonar, en pacientes con otras displasias esqueléticas, principalmente trastornos asociados a anomalías del desarrollo torácico, con tórax en campana, estrechez o malformaciones torácicas que limitan el crecimiento pulmonar y asocian patrones ventilatorios restrictivos y mala dinámica ventilatoria. 15 Sin embargo, no se encontró en la literatura revisada artículos que mencionen una asociación entre acrodisostosis y compromiso de la función pulmonar.…”

Section: Discussionunclassified

Afectación respiratoria en paciente con acrodisostosis: una asociación infrecuente de una enfermedad rara

Martín¹,

Zubiri

Guindulain

et al. 2021

Arch Argent Pediat

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Presentación de casos clínicos RESUMENLa acrodisostosis es una displasia esquelética rara, de herencia autosómica dominante, que se caracteriza por la presencia de disostosis facial y periférica, talla baja y diferentes grados de obesidad. La acrodisostosis de tipo 1, secundaria a la mutación heterocigota en el gen PRKAR1A (17q24.2), se caracteriza por la asociación de resistencia hormonal múltiple con anomalías esqueléticas. Su incidencia está infradiagnosticada debido a que comparte rasgos clínicos y de laboratorio con otras entidades como el seudohipoparatiroidismo. Presentamos el caso de una niña de 8 años, con acrodisostosis tipo 1, confirmada mediante estudio genético. Además del fenotipo característico descrito, la talla baja y la resistencia hormonal, la paciente presentó una afectación progresiva de la función pulmonar: un patrón pulmonar obstructivo no reversible. En la literatura revisada, no se han encontrado otros casos que describan esta asociación entre acrodisostosis y afectación respiratoria.

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Section: Discussionunclassified

Afectación respiratoria en paciente con acrodisostosis: una asociación infrecuente de una enfermedad rara

Martín¹,

Zubiri

Guindulain

et al. 2021

Arch Argent Pediat

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“…Pulmonary hypertension in CDH is driven by lung hypoplasia and may result in alterations in the pulmonary vasculature and in the pulmonary vasoreactivity [ 3 ]. Skeletal dysplasia is associated with PPHN and many complex respiratory complications due to small and poorly compliant chest wall movements, airway anomalies, pulmonary hypoplasia, and central apnea [ 4 ].…”

Section: Methodsmentioning

confidence: 99%

“…Several methods have been proposed to assess fetal lung volume as a proxy indicator of pulmonary function [ 4 ]. Some of these methods are time consuming to perform and there can be considerable variability in measurements between different ultrasonographers.…”

Section: Introductionmentioning

confidence: 99%

Can sonographic assessment of pulmonary vascular reactivity following maternal hyperoxygenation predict neonatal pulmonary hypertension? (HOTPOT study protocol)

McHugh

Franklin

El-Khuffash

et al. 2020

Contemporary Clinical Trials Communications

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Background Persistent pulmonary hypertension of the newborn (PPHN) is a condition that occurs in 0.5–7 per 1000 live births and can result in significant cardiovascular instability in the newborn. It occurs when there is a failure of the normal circulatory transition in the early newborn period. Recent studies have shown that fetal pulmonary vasculature reacts to maternal hyperoxygenation (MH). The aim of the study is to assess if the in-utero response to MH can predict pulmonary hypertension in the early newborn period. Methods We will perform a prospective cohort study. It will evaluate the use of fetal echocardiographic Doppler assessment of the pulmonary vasculature prior to and following MH to predict fetuses that may develop pulmonary hypertension in the neonatal period. The study will be undertaken in the Rotunda Hospital, Dublin, Ireland. A fetal ultrasound and echocardiography will be performed on fetuses in the third trimester. Blood flow velocity waveforms will be recorded during periods of fetal quiescence. Pulsatility index (PI), Resistance index (RI), Peak systolic (PSV) and end diastolic velocity (EDV), time-averaged velocity (TAV), acceleration time (AT), and ejection time (ET) will be measured within the fetal distal pulmonary artery (PA). The acceleration-to-ejection time ratio (AT: ET) will be used to assess pulmonary vascular resistance (PVR). Doppler measurements will be taken at baseline and repeated immediately following MH for 10 min (O2 100% v/v inhalational gas) at a rate of 12L/min via a partial non-rebreather mask. Doppler waveform measurements from the umbilical artery (UAD), middle cerebral artery (MCA) ductus arteriosus (DA), aortic isthmus (AoI) and ductus venosus (DV) will also be obtained. After birth, a comprehensive neonatal functional echocardiogram will be performed within the first 24 hours of life. Discussion This study proposes to validate methods described to date in investigating the fetal pulmonary vascular response to MH, with expansion of the study subjects to include fetuses at risk of PPHN. Evaluation of the different at-risk subgroups will be informative in relation to the fetal circulatory adaptation close to term. Prediction of neonatal pulmonary hypertension may help guide the pharmacological and neonatal ICU strategies that optimise postnatal survival.

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“…Chest wall malformations, including excessively stiff and narrow chest, can lead to a decreased functional residual capacity, exposing patients to severe respiratory insufficiency [46][47][48][49][50]. These patients could, therefore, be susceptible to more severe complications related to SARS-CoV-2 infection than healthy subjects.…”

Section: Children and Elderly Peoplementioning

confidence: 99%

Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

Brizola

Adami

Baroncelli

et al. 2020

Orphanet J Rare Dis

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During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the "COVID-19 Helpline for Rare Bone Diseases" in an attempt to provide high-quality information and expertise on rare bone diseases remotely to patients and healthcare professionals. The present position statement describes the key characteristics of the Helpline initiative, along with the main aspects and topics that recurrently emerged as central for rare bone diseases patients and professionals. The main topics highlighted are general recommendations, pulmonary complications, drug treatment, trauma, pregnancy, children and elderly people, and patient associations role. The successful experience of the "COVID-19 Helpline for Rare Bone Diseases" launched in Italy could serve as a primer of gold-standard remote care for rare bone diseases for the other European countries and globally. Furthermore, similar COVID-19 helplines could be considered and applied for other rare diseases in order to implement remote patients' care.

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Skeletal dysplasia: Respiratory management during infancy

Cited by 23 publications

References 64 publications

Afectación respiratoria en paciente con acrodisostosis: una asociación infrecuente de una enfermedad rara

Afectación respiratoria en paciente con acrodisostosis: una asociación infrecuente de una enfermedad rara

Can sonographic assessment of pulmonary vascular reactivity following maternal hyperoxygenation predict neonatal pulmonary hypertension? (HOTPOT study protocol)

Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

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