Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant

2020 ◽  
Vol 13 (10) ◽  
pp. e235520
Author(s):  
Naveen Parkash Gupta ◽  
Anil Batra ◽  
Ratna Puri ◽  
Varun Meena
Keyword(s):  
Respiratory Distress ◽  
Missense Mutation ◽  
Hyaline Membrane Disease ◽  
Term Infant ◽  
Severe Respiratory Distress ◽  
X Ray ◽  
Homozygous Missense Mutation ◽  
Transporter Protein ◽  
Whole Exome ◽  
Term Baby

The term baby presented with respiratory distress with X-ray pictures consistent as hyaline membrane disease (HMD). Baby was ventilated and treated with surfactant. Because of the persistence of high ventilation needs with X-ray pictures consistent with HMD with a transient response to surfactant every time, the possibility of an inherited disorder of surfactant metabolism was kept. Whole-exome sequencing revealed a novel homozygous missense mutation in the gene for ATP binding cassette transporter protein A3. The baby died after 100 days of ventilation.

Acute Pulmonary Edema after Polyethylene Glycol Intestinal Lavage in a Child

1993 ◽  
Vol 27 (9) ◽  
pp. 1044-1047 ◽  
Author(s):  
Christopher M. Paap ◽  
Robert Ehrlich
Keyword(s):  
Polyethylene Glycol ◽  
Respiratory Distress ◽  
Pulmonary Edema ◽  
Ventilatory Support ◽  
Gastrointestinal Symptoms ◽  
Acute Pulmonary Edema ◽  
Severe Respiratory Distress ◽  
X Ray ◽  
Chest X Ray ◽  
Outpatient Settings

OBJECTIVE: To report the case of an eight-year-old girl, without preexisting cardiac or renal disease, who developed acute pulmonary edema and severe respiratory distress after balanced electrolyte with polyethylene glycol (BE-PEG) intestinal lavage. CASE SUMMARY: During the nasogastric infusion of a one-liter dose of BE-PEG (OCL, Abbott), the patient experienced abdominal discomfort, gagging, vomiting, and coughing. After the nasogastric infusion, the patient again had emesis, developed tachypnea, intercostal retractions, and acute respiratory distress. She received oxygen and subsequently required intubation and ventilatory support. Physical examination revealed pulmonary congestion bilaterally but no signs of cardiac failure or sepsis. Chest X-ray revealed bilateral pulmonary edema. Ventilatory support was continued for 36 hours and the patient was extubated after two days. DISCUSSION: Enteral BE-PEG may have caused acute pulmonary edema secondary to aspiration or systemic fluid overload. Although the exact cause remains unknown, the close temporal onset of pulmonary edema after BE-PEG administration in an otherwise healthy child suggests a causal relationship. CONCLUSIONS: This case should alert clinicians to the potential for significant morbidity with BE-PEG solutions, particularly if used in outpatient settings. Patients who receive BE-PEG should be closely observed and monitored for potential aspiration, excessive infusion rates, and gastrointestinal symptoms to optimize efficacy and reduce morbidity.

scholarly journals Clinico-epidemiological study of respiratory distress in newborn and associated risk factors

2018 ◽  
Vol 5 (4) ◽  
pp. 1576
Author(s):  
Rishi Sodawat ◽  
Pukhraj Garg ◽  
Chaturbhuj Singh ◽  
Priyanka Sharma
Keyword(s):  
Risk Factors ◽  
Respiratory Distress ◽  
Neonatal Intensive Care ◽  
Very Low Birth Weight ◽  
Hyaline Membrane Disease ◽  
Common Cause ◽  
X Ray ◽  
Common Causes ◽  
Associated Risk Factors ◽  
Causes And Risk Factors

Background: Respiratory distress (RD) is one of the most common causes of admission in neonatal intensive care unit (NICU) for a variety of pulmonary and non-pulmonary disorders. This study has been undertaken to evaluate prevalence of the known causes and risk factors associated with development of respiratory distress in neonates and finally to assess the clinical correlation with blood investigations, X-RAY, ECG, ABG and 2D ECHO.Methods: The present study was conducted in the department of Pediatrics at JLNMC Ajmer between February 2017 – February 2018, over a period of 12 months. It is a prospective case study.Results: Out of 600 newborns admitted with respiratory distress, Transient Tachypnea of Newborn (TTN) was found to be the most common cause (n = 196, 32.6%) followed by HMD (n = 145, 24.1%).Conclusions: Transient tachypnea of newborn is the most common cause among new-borns with respiratory distress. Majority of newborns develop severe distress within 6 hours after birth. In preterm and term babies the major cause of RD is Hyaline membrane disease (HMD) and HIE/CHD (hypoxic enchephalopathy/congenital heart disease) respectively. While in post term babies MAS is major cause of RD. Newborns with low and very low birth weight are more prone for development of severe distress.

scholarly journals Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding ERCC6 Gene in a Taiwanese Boy with Cockayne Syndrome

Life ◽  
2021 ◽  
Vol 11 (11) ◽  
pp. 1230
Author(s):  
Ching-Ming Lin ◽  
Jay-How Yang ◽  
Hwei-Jen Lee ◽  
Yu-Pang Lin ◽  
Li-Ping Tsai ◽  
...  
Keyword(s):  
Protein Stability ◽  
Exome Sequencing ◽  
Missense Mutation ◽  
Whole Exome Sequencing ◽  
3D Structure ◽  
Cockayne Syndrome ◽  
Structure Stability ◽  
Homozygous Missense Mutation ◽  
Whole Exome ◽  
The Impact

Background: Cockayne syndrome (CS) is a rare form of dwarfism that is characterized by progressive premature aging. CS is typically caused by mutations in the excision repair cross-complementing protein group 6 (ERCC6) gene that encodes the CS group B (CSB) protein. Using whole exome sequencing, we recently identified a novel homozygous missense mutation (Leu536Trp) in CSB in a Taiwanese boy with CS. Since the current database (Varsome) interprets this variant as likely pathogenic, we utilized a bioinformatic tool to investigate the impact of Leu536Trp as well as two other variants (Arg453Ter, Asp532Gly) in similar articles on the CSB protein structure stability. Methods: We used iterative threading assembly refinement (I-TASSER) to generate a predictive 3D structure of CSB. We calculated the change of mutation energy after residues substitution on the protein stability using I-TASSER as well as the artificial intelligence program Alphafold. Results: The Asp532Gly variant destabilized both modeled structures, while the Leu536Trp variant showed no effect on I-TASSER’s model but destabilized the Alphafold’s modeled structure. Conclusions: We propose here the first case of CS associated with a novel homozygous missense mutation (Leu536Trp) in CSB. Furthermore, we suggest that the Asp532Gly and Leu536Trp variants are both pathogenic after bioinformatic analysis of protein stability.

scholarly journals Congenital Chylothorax

2009 ◽  
Vol 9 ◽  
pp. 431-434 ◽  
Author(s):  
Saad Lahmiti ◽  
Jamila Elhoudzi ◽  
Salwa Baki ◽  
Abdelmounaim Aboussad
Keyword(s):  
Pleural Effusion ◽  
Respiratory Distress ◽  
Conservative Therapy ◽  
Biochemical Study ◽  
First Line ◽  
X Ray ◽  
Favorable Prognosis ◽  
Left Pleural Effusion ◽  
Congenital Chylothorax ◽  
Term Baby

Although pleural effusion is a rare cause of respiratory distress in newborns, being familiar with this disease is very important because of the generally favorable prognosis when the diagnosis is done early and therapy is prompt. We report a case of a full-term baby diagnosed with respiratory distress after 1 week of life. An X-ray of his chest showed a left pleural effusion. Moreover, a thoracentesis combined with a biochemical study of the pleural fluid confirmed the diagnosis of chylothorax. In our case, the conservative therapy was successful. The baby was followed up for a period of 6 months, with no evidence of recurrence. We have concluded, therefore, that conservative management should be the first line of treatment in chylothorax cases. If it does not work, a surgical approach might be considered.

scholarly journals Flexible Bronchoscopy in the Management of Congenital Lobar Emphysema in the Neonate

1998 ◽  
Vol 5 (3) ◽  
pp. 219-221 ◽  
Author(s):  
EZ Phillipos ◽  
K Libsekal
Keyword(s):  
Respiratory Distress ◽  
Flexible Bronchoscopy ◽  
Left Hemithorax ◽  
Severe Respiratory Distress ◽  
Emergency Relief ◽  
Congenital Lobar Emphysema ◽  
X Ray ◽  
Chest X Ray ◽  
Fraction Of Inspired Oxygen ◽  
Lobar Emphysema

This paper describes the case of a 3 kg neonate who had congenital lobar emphysema of the left upper lobe (LUL). He was in severe respiratory distress with a fraction of inspired oxygen of 0.8. Chest x-ray showed hyperlucent expanded left hemithorax and marked mediastinal shift. Following flexible bronchoscopy and introduction of ultrathin bronchoscope into the LUL bronchus, symptoms and chest x-ray improved markedly. Flexible bronchoscopy resulted in emergency relief of his initial respiratory distress, and left upper lobe lobectomy was performed electively three days later.

A full-term infant with type II thanatophoric dysplasia

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Natharina Yolanda ◽  
Ferry Yulianto ◽  
Sally Arina ◽  
Johanes Edwin
Keyword(s):  
Respiratory Distress ◽  
Gestational Hypertension ◽  
Smoking Habit ◽  
Clinical Findings ◽  
Term Infant ◽  
Elective Cesarean Section ◽  
Thanatophoric Dysplasia ◽  
Nasal Bridge ◽  
Severe Respiratory Distress ◽  
Elective Cesarean

Abstract Objectives To report a neonate with clinical findings consistent with thanatophoric dysplasia (TD). Only a few cases of this rare and lethal skeletal disorder have been reported in South-East Asia. Case presentation A 37-year-old Asian female, fourth gravida at 39 weeks, presented to our hospital for an elective cesarean section due to polyhydramnios, frank breech and gestational hypertension. The father was a 42-year-old Asian male. There was no history of rashes, fever, alcohol intake, substance drug abuse, smoking habit or radiation exposure. Ultrasound (US) of 34-weeks’ gestation found a baby with frontal bossing, prominent temporal lobe, clover-skull and low nasal bridge. The thoracic diameter was smaller than the abdominal diameter. Short limbs without bowing were noted in femur and humeral bones. The patient delivered a baby boy, 4115 g, APGAR scores were 5 and 7 at 1 and 5 min. The baby had a dysmorphic face, frontal bossing, low nasal bridge, low-set ears and short neck. The thorax was narrow and abdomen was protuberant. The upper and lower proximal limbs appeared short. A chest X-ray revealed short, curved ribs and opacification of both lungs. He had respiratory distress shortly after birth and had persistent severe respiratory distress despite adequate mechanical ventilation. On the third day, he had cardiac arrest; resuscitation was not done due to family request. The baby was declared deceased due to cardiopulmonary failure related to his congenital anomaly. Conclusions Ultrasonography could readily indicate TD prenatally. The pregnancy can continue up to late third trimester without miscarriage. Most of the neonates die in utero; those who survive are dependent on ventilator.

scholarly journals A Novel Homozygous Missense Mutation of WEE2 Causes Female Infertility Characterized by Fertilization Failure

2021 ◽  
Author(s):  
Wenwen Liu ◽  
Guijun Yan ◽  
Ningyuan Zhang ◽  
Na Kong ◽  
Min Wu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Theoretical Basis ◽  
Sanger Sequencing ◽  
Fertilization Failure ◽  
Online Service ◽  
Homozygous Missense Mutation ◽  
Candidate Mutation ◽  
Whole Exome ◽  
Mutant Spectrum ◽  
Online Software

Abstract Purpose: To investigate the genetic cause of infertility in a female patient due to repeated fertilization failure.Methods: Whole exome sequencing was performed to obtain the candidate mutation. Sanger sequencing was used to identify the mutation of the proband and other family members. SIFT, Polyphen-2, and Mutation Taster were used to predict the pathogenicity of mutations. The online software Arpeggio and the mCSM online service were used to analyze the effect of the mutation on protein structure and stability. Results: We identified a novel homozygous missense mutation c.T1199A:p.L400Q (Leu400Gln) in WEE2 gene in a female proband with infertility caused by fertilization failure. Conclusions: We discovered a novel homozygous missense mutation c.T1199A:p.L400Q (Leu400Gln) of the WEE2 gene in an infertile female whose oocytes had undergone complete fertilization failure, either after ICSI or RICSI. Our findings extend the mutant spectrum of WEE2 , a genetic cause for fertilization failure, and provide a theoretical basis for clinical diagnosis of the pathogenic causes of infertility.

Inhaled Nitric Oxide in the Management of a Premature Newborn With Severe Respiratory Distress and Pulmonary Hypertension

PEDIATRICS ◽  
1993 ◽  
Vol 92 (4) ◽  
pp. 606-609 ◽  
Author(s):  
STEVEN H. ABMAN ◽  
JOHN P. KINSELLA ◽  
MICHAEL S. SCHAFFER ◽  
RANDALL B. WILKENING
Keyword(s):  
Pulmonary Hypertension ◽  
Respiratory Distress ◽  
Ductus Arteriosus ◽  
Hyaline Membrane Disease ◽  
Left Pulmonary Artery ◽  
Clinical Syndrome ◽  
Preterm Neonates ◽  
Severe Respiratory Distress ◽  
Near Term ◽  
Group B

Persistent pulmonary hypertension of the newborn (PPHN) is a clinical syndrome, characterized by sustained elevation of pulmonary vascular resistance (PVR) with right-to-left shunting across the ductus arteriosus and/or foramen ovale, causing severe hypoxemia. Although generally associated with diseases of term or near-term newborns, including group B streptococcal sepsis, PPHN has been described in preterm neonates as well. Recent echocardiographic studies have demonstrated increased PVR in preterm neonates with hyaline membrane disease (HMD), which correlated with disease severity and mortality. Severe HMD was associated with lower aortopulmonary pressure gradients and left pulmonary artery blood flow velocities during the first 72 hours after birth, suggesting that high PVR contributes to the mortality of respiratory distress of premature neonates.

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