Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital diaphragmatic hernia (CDH) remains one of the most challenging conditions to treat within the pediatric surgical and medical communities. In spite of modern treatment modalities, including extracorporeal membrane oxygenation (ECMO) and improved ventilatory support, mortality remains high. The present study analyzes a US database containing information from nearly 93 million discharges in the US. Infants with congenital diaphragmatic hernia who underwent surgical repair were identified by ICD-9 procedure code and inclusion criteria including an age at admission of less than 1 year. Variables of gender, race, age, geographic region, co-existing diagnoses and procedures, hospital type, hospital charges adjusted to 2006 dollars, length of stay, and inpatient mortality were collected. A total of 89% of patients were either treated initially or rapidly transferred to urban teaching hospitals for definitive treatment of CDH. The inpatient mortality rate was 10.4% with a median length of stay of 20 days (interquartile range of 9-40 days). The median inflation-adjusted total hospital charge was $116,210. Respiratory distress was the most common co-existing condition (68.8%) followed by esophageal reflux (27.8%). The most common concomitant procedures performed were ECMO (17.8%) and fundoplication (17.6%). This study, which represents the largest characterization of US infants who have undergone CDH repair using data from a nationally representative non-voluntary database, demonstrates that surgical repair is associated with significant mortality and morbidity.
 ...
PMID:Congenital diaphragmatic hernia: outcome review of 2,173 surgical repairs in US infants. 1972 69

Vocal cord dysfunction involves inappropriate vocal cord motion that produces partial airway obstruction. Patients may present with respiratory distress that is often mistakenly diagnosed as asthma. Exercise, psychological conditions, airborne irritants, rhinosinusitis, gastroesophageal reflux disease, or use of certain medications may trigger vocal cord dysfunction. The differential diagnosis includes asthma, angioedema, vocal cord tumors, and vocal cord paralysis. Pulmonary function testing with a flow-volume loop and flexible laryngoscopy are valuable diagnostic tests for confirming vocal cord dysfunction. Treatment of acute episodes includes reassurance, breathing instruction, and use of a helium and oxygen mixture (heliox). Long-term management strategies include treatment for symptom triggers and speech therapy.
 ...
PMID:Vocal cord dysfunction. 2011 59

A joint study group on cow's milk allergy was convened by the Emilia-Romagna Working Group for Paediatric Allergy and by the Emilia-Romagna Working Group for Paediatric Gastroenterology to focus best practice for diagnosis, management and follow-up of cow's milk allergy in children and to offer a common approach for allergologists, gastroenterologists, general paediatricians and primary care physicians.The report prepared by the study group was discussed by members of Working Groups who met three times in Italy. This guide is the result of a consensus reached in the following areas. Cow's milk allergy should be suspected in children who have immediate symptoms such as acute urticaria/angioedema, wheezing, rhinitis, dry cough, vomiting, laryngeal edema, acute asthma with severe respiratory distress, anaphylaxis. Late reactions due to cow's milk allergy are atopic dermatitis, chronic diarrhoea, blood in the stools, iron deficiency anaemia, gastroesophageal reflux disease, constipation, chronic vomiting, colic, poor growth (food refusal), enterocolitis syndrome, protein-losing enteropathy with hypoalbuminemia, eosinophilic oesophagogastroenteropathy. An overview of acceptable means for diagnosis is included. According to symptoms and infant diet, three different algorithms for diagnosis and follow-up have been suggested.
 ...
PMID:Cow's milk protein allergy in children: a practical guide. 2020 81

Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present. The purpose of this study was to more fully describe tetrasomy 18p at both the genotypic and the phenotypic levels. Array CGH was performed on 43 samples from individuals with tetrasomy 18p diagnosed via routine karyotype. The medical records of 42 of these 43 individuals were reviewed. In order to gain additional phenotypic data, 31 individuals with tetrasomy 18p underwent a series of clinical evaluations at the Chromosome 18 Clinical Research Center. Results from the molecular analysis indicated that 42 of 43 samples analyzed had 4 copies of the entire p arm of chromosome 18; one individual was also trisomic for a section of proximal 18q. The results of the medical records review and clinical evaluations expand the phenotypic description of tetrasomy 18p to include neonatal jaundice and respiratory distress; recurrent otitis media; hearing loss; seizures; refractive errors; constipation and gastroesophageal reflux; cryptorchidism; heart defects; and foot anomalies. Additional findings identified in a small number of individuals include hernias, myelomeningocele, kidney defects, short stature, and failure to respond to growth hormone stimulation testing. Additionally, a profile of dysmorphic features is described. Lastly, a series of clinical evaluations to be considered for individuals with tetrasomy 18p is suggested.
 ...
PMID:Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. 2080 40

The authors report a rare case of partial diaphragmatic eventration in a 4-month-old infant with recurrent wheezing and low serum IgA values. Because of persistent respiratory symptoms after therapy with inhaled short-acting beta2 agonists and inhaled nebulized corticosteroids, surgery was undertaken to correct the defect. Despite surgery, the clinical symptoms did not improve. Consequently, gatroesophagel reflux was considered and the diagnosis was confirmed with pH-metry, after which the infant was started on a protonic pump inhibitor therapy (PPI), achieving clinical improvement. Our experience suggests that in infants with congenital diaphragmatic eventration who present with respiratory distress gastro-oesophageal reflux should be suspected, and PPI therapy should be started before planning surgery.
 ...
PMID:An infant with diaphragmatic eventration and respiratory distress. 2112 88

A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of the clinical symptoms and therefore on the extent of the LC. Diagnosis is made either based on clinical manifestations or on investigations, such as endoscopy, X-ray, CT scan, performed for other conditions. Differential diagnoses include tracheo-bronchial fistula, gastro-esophageal reflux disease and neurological swallowing disorders, as well as laryngomalacia and laryngeal palsy. Prenatal diagnosis of LC has never been reported, although associated anomalies may be detected on fetal ultrasonography. Once the cleft is diagnosed, it is essential to determine its length to orient the management and treatment approach. Management involves maintenance of satisfactory ventilation, prevention of secondary pulmonary complications as a result of repeated aspirations, and adequate feeding. Endotracheal intubation may be required for respiratory distress in severe cases. Treatment requires endoscopic or external surgery to close the cleft. Surgery should be performed as early as possible to avoid complications related to aspiration and gastric reflux, except in type 0 and type 1 cases in which conservative measures must first be attempted. The prognosis is variable depending on the severity of the LC and associated malformations. Early diagnosis and appropriate treatment and management help to reduce mortality and morbidity.
 ...
PMID:Laryngo-tracheo-oesophageal clefts. 2215 99

Persistent pneumonia associated with H1N1 influenza infection is a rarely reported clinical entity. The authors describe the case of an infant who presented to the emergency department with respiratory distress and a 30-day history of intermittent cough and breathing difficulty. Low grade gastro-oesophageal reflux (GER) was a possible cause for the patient's persistent lower respiratory tract symptoms. However, despite appropriate and adequate therapy for GER, his symptoms persisted and he worsened a week after admission. A search for causes of persistent pneumonia showed positive results for H1N1 virus and isolated IgA deficiency. IgA deficiency in an infant with H1N1 infection has not been previously reported. Inability to mount an adequate local immune response due to deficiency of the antibody could have led to the persistence of symptoms in this case. Screening of family members for the source of infection revealed that the mother was positive for the virus. The authors report this case to highlight the need to rule out underlying IgA deficiency in children with an atypical course of H1N1 pneumonia.
 ...
PMID:H1N1 infection associated with persistent lower respiratory tract illness in an infant with isolated IgA deficiency. 2266 68

Diaphragmatic injuries are quite uncommon and often result from either blunt or penetrating trauma. Diaphragmatic ruptures are usually associated with abdominal trauma; however, it can occur in isolation. Acute traumatic rupture of the diaphragm may go unnoticed and there is often a delay between the injury and the diagnosis. Patients present with non-specific symptoms and may complain of chest pain, abdominal pain, dyspnoea, tachypnoea and cough, heartburn and symptoms of gastro-oesophageal reflux. Respiratory distress and faeco-pneumothorax have been reported. We present an interesting case of traumatic diaphragmatic hernia presenting 5 years after a road traffic accident as acute abdomen and massive haematemesis due to strangulated gangrenous gastric hernia.
 ...
PMID:Massive haematemesis due to strangulated gangrenous gastric herniation as the delayed presentation of post-traumatic diaphragmatic rupture. 2277 92

Gastroesophageal reflux disease (GERD) is a commonly encountered condition in children, which at times causes respiratory distress, such as asthmatic symptoms, and results in serious morbidity and even mortality. The complexity is sometimes so obscure, that it can cause paradoxical diagnoses and treatment. Here we present two cases of children with difficult-to-treat asthmatic symptoms, which were eventually found to be related to GERD. The two children were treated with anti-reflux procedures and both became symptom free. Literature was also reviewed to shed a light into this complex disease.
 ...
PMID:Anti-reflux procedure for difficult-to-treat asthmatic children, case report and literature review. 2298 Sep 11

Landmark studies have established taxanes in the treatment of patients with breast cancer; however, recommendations regarding their administration during pregnancy are controversial. The present systematic review aims to synthesize all available data that stem exclusively from breast cancer case series to evaluate the efficacy and safety of taxanes during pregnancy. Overall, 16 studies (50 pregnancies) were eligible for the systematic review according to prisma guidelines. The mean age of patients with breast cancer at pregnancy was 34.6 years. The gestational age (GA) at chemotherapy administration varied from 12 to 36 weeks. The mean GA at delivery was 35.9 weeks. The mean weight of babies at delivery was 2380 g. In 76.7% of cases, a completely healthy neonate was born; in the remaining cases, a neonate who was dystrophic and premature, one with mild hydrocephalus, one with signs of bacterial sepsis, one with hyperbilirubinemia, one with apnea of prematurity, respiratory distress syndrome and gastroesophageal reflux, one with meconium-stained fluid, and another neonate with neutropenia and pyloric stenosis were reported. Ninety percent of children were completely healthy, with a median follow-up of 16 months; in the remaining cases, one child with recurrent otitis media, one with immunoglobulin A deficiency and mild constipation, and another child with delayed speech were reported. In conclusion, available data suggest that taxanes may potentially play a promising role in the optimal therapeutic strategy of patients with breast cancer diagnosed during pregnancy.
 ...
PMID:Taxanes for breast cancer during pregnancy: a systematic review. 2312 38


<< Previous 1 2 3 4 5 6 Next >>