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

The temporal relationship between apnea and gastroesophageal reflux was examined in 14 infants with abnormal GER scores and histories of prolonged apnea. Simultaneous polysomnographic and intraesophageal pH recordings were performed for each infant. GER episodes were compared to control segments of the recording (without GER) for frequency and type of apnea. Apnea was equally likely to occur during the control segments as during the GER episodes. Brief obstructive apneic episodes were more common during the onset of GER episodes than the onset of control segments. GER duration appeared prolonged during sleep. GER and apnea were not temporally related in the majority of instances, and may be two manifestations of a more general developmental delay.
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PMID:Gastroesophageal reflux in infants: relation to apnea. 725 74

Fryns syndrome is a rare autosomal recessive disorder characterized by diaphragmatic hernia and multiple anomalies. Almost all infants have died at birth, and survivors have had severe mental retardation. The authors report on a family in which three children had diaphragmatic hernia diagnosed prenatally. The first child died of severe pulmonary hypoplasia in the neonatal period. The second survived after diaphragmatic hernia repair, and was found to have Fryns syndrome based on the spectrum of associated anomalies and the family history. He has done well except for significant gastroesophageal reflux, mild developmental delay, and mild hypotonia. The third child's diaphragmatic hernia was diagnosed early during fetal life, and the parents chose to terminate the pregnancy. These cases illustrate the spectrum of Fryns syndrome and the importance of a family history in patients with congenital diaphragmatic hernia. This is the first report of survival of a patient with Fryns syndrome without severe mental retardation.
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PMID:Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia. 780 64

Otolaryngologic complications of gastroesophageal reflux (GER) are well described in adults, but this relationship has not been as carefully studied in children. We reviewed 26 dual pH-probe studies performed on 22 children with upper airway symptoms. The proximal probe was placed in the nasopharynx or hypopharynx. The distal probe was placed in the mid-proximal oesophagus. The proximal recording was considered normal if no episodes of pH < 4 were recorded. Indications for the studies were upper airway obstruction (UAO) and congenital choanal atresia (CCA). The age range was from 2 weeks to 47 months. The distal pH probe study was normal in 13 of 22 patients overall. Seventeen UAO patients had abnormal proximal pH probe studies. After treatment, 16 of 17 had improved airways. Twelve with UAO (67%) were premature and/or had developmental delay. Three CCA patients had abnormal proximal pH-probe studies and all improved after treatment. Four follow-up pH studies were normal or improved. GER-induced UAO is more frequent in infants or children with a history of prematurity or developmental delay. Proximal pH-metry is a useful technique to document the relationship between upper airway symptoms and GER. Patients with GER-induced UAO should undergo endoscopy to rule out simultaneous airway lesions.
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PMID:Proximal pH-metry for diagnosis of upper airway complications of gastroesophageal reflux. 853 89

CDH patients are critically ill but can expect excellent survival if other serious anomalies are not present; however, significant long-term morbidities exist in the survivors. The most notable of these are developmental delay, poor growth, gastroesophageal reflux disease, hearing loss, and musculoskeletal abnormalities. Patients require careful long-term follow-up for these problems, and caregivers must continue to critically evaluate their medical interventions in the neonatal period to try to minimize these morbidities.
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PMID:Long-term outlook for survivors of congenital diaphragmatic hernia. 898 76

Gaucher disease is the most common of the glycolipid storage disorders caused by the deficiency of glucocerebrosidase, an enzyme which hydrolyzes glucocerebroside to glucose and ceramide. Accumulation of the substrate leads to multiorgan dysfunction involving the brain, spleen, liver, lymph node and bone marrow. In anesthetic management, gastroesophageal reflux leading to recurrent aspiration, pancytopenia and airway difficulties due to trismus, neck extension and upper airway infiltration with glucocerebroside must be considered. We report a case of a 9-year-old boy presenting developmental delay, mild pancytopenia, splenomegary gastroesophageal reflux. He was scheduled for measurement of intra-esophageal pressure, total splenectomy and Nissen fundoplication. Preoperative examination showed trismus and opisthotonic posturing. We predicted difficult airway maintenance and assessed his airway with airway radiograph. Airway narrowing was not shown. For this difficult airway, we made a special mask that has an introducer port for fiberbronchoscope. For the first time, we tried to insert a laryngeal mask, but the insertion was difficult due to trismus and narrowed oral cavity. Then, we used this special mask for the next time. Tracheal intubation was much safer by using this mask for fiberoptic intubation. In Gaucher disease, preoperative assessment of airway difficulties and preparation for this situation are necessary and anesthesiologist must be concerned about aspiration and airway difficulties.
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PMID:[Anesthetic management involving difficult intubation in a child with Gaucher disease]. 949 2

Del(22q11) is a common microdeletion syndrome with an extremely variable phenotype. Besides classical manifestations, such as velocardiofacial (Shprintzen) or DiGeorge syndromes, del(22q11) syndrome may be associated with unusual but probably causally related anomalies that expand its phenotype and complicate its recognition. We report here three children with the deletion and a chronic, erosive polyarthritis resembling idiopathic cases of juvenile rheumatoid arthritis (JRA). Patient 1, born in 1983, initially presented with developmental delay, facial dysmorphism, velopharyngeal insufficiency, and severe gastro-oesophageal reflux requiring G tube feeding. From the age of 3 years, he developed JRA, which resulted in severe restrictive joint disease, osteopenia, and platyspondyly. Patient 2, born in 1976, had tetralogy of Fallot and peripheral pulmonary artery stenosis. She developed slowly, had mild dysmorphic facial features, an abnormal voice, and borderline intelligence. JRA was diagnosed at the age of 5 years. The disorder followed a subacute course, with relatively mild inflammatory phenomena, but an extremely severe skeletal involvement with major osteopenia, restrictive joint disease (bilateral hip replacement), and almost complete osteolysis of the carpal and tarsal bones with phalangeal synostoses, leading to major motor impairment and confinement to a wheelchair. Patient 3, born in 1990, has VSD, right embryo-toxon, bifid uvula, and facial dysmorphism. She developed JRA at the age of 1 year. She is not mentally retarded but has major speech delay secondary to congenital deafness inherited from her mother. In the three patients, a del(22q11) was shown by FISH analysis. These observations, and five other recently published cases, indicate that a JRA-like syndrome is a component of the del(22q11) spectrum. The deletion may be overlooked in those children with severe, chronic inflammatory disorder.
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PMID:Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association. 983 43

We present 4 brothers with developmental delay, minor anomalies, and symptoms due to gastrointestinal dysmotility. There was some resemblance with FG syndrome, although none of the brothers had sufficient findings to make this diagnosis. The index case presented with at age 1 month with screaming episodes, mild gastro-esophageal reflux (GER), and severe constipation. Esophageal manometry studies were consistent with the diagnosis of "nutcracker esophagus." Symptomatic and manometric improvement followed treatment with oral calcium channel blockers. Two older and less severely affected brothers had similar manometric findings but did not require treatment. A fourth brother with symptoms in infancy now has normal esophageal manometry findings. These boys in all likelihood have an X-linked syndrome with manifestations of FG syndrome, in which treatment with calcium channel blockers, produces clinical and manometric improvement. The FG syndrome is an X-linked syndrome of multiple congenital anomalies/mental retardation with facultative manifestations of gastrointestinal dysmotility, including gastro-esophageal reflux, severe feeding difficulties, and constipation. Esophageal dysmotility, in particular "nutcracker esophagus," should be suspected in infants with the FG syndrome and screaming attacks.
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PMID:Esophageal dysmotility in brothers with an FG-like syndrome. 1075 39

To study the phenotypic spectrum and management of holoprosencephaly (HPE), we reviewed the findings of eight children with HPE from 3 to 10 years of age, who underwent intervention programs and rehabilitation at our center. One patient had alobar HPE, three semilobar HPE, and four lobar HPE. All patients had postnatal growth retardation, and seven showed a decreased BMI (< 25% tile). All patients had severe developmental delay and mental retardation (DQ < 40), showing no obvious correlation between their severity and the type of HPE. Neurologically seven patients had spasticity (3 spastic quadriplegia, 2 spastic diplegia, 2 mixed-type), except one patient with a 7q deletion [46,XY,del(7) (q35)] who had generalized hypotonia. Seven had variable types of seizures. All patients had feeding difficulties and were assessed by speech-language therapists. Four patients required tube feeding, four had gastroesophageal reflux disease. Recurrent respiratory tract infection was common. Three patients had abnormal serum sodium concentration (1 diabetes insipidus, 1 idiopathic hypernatremia, 1 hyponatremia). No family history of HPE was elicited. In conclusion, patients with HPE should be followed up closely for complications such as feeding difficulty, malnutrition, seizures, spasticity, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.
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PMID:[Clinical spectrum and management of holoprosencephaly]. 1091 68

Laryngeal clefts are rare congenital disorders, classified by multiple different schemes. Type IA (Armitage) and type I (Benjamin and Inglis) laryngeal clefts exhibit absence or hypoplasia of the interarytenoid muscles with an intact cricoid ring. Submucous or "occult" clefts occur with intact mucosa but absent underlying cartilage and/or muscle. Children with a diagnosis of posterior laryngeal cleft often have other congenital anomalies or medical disorders, including gastroesophageal reflux, tracheomalacia, syndrome complexes, and developmental delay. These associated disorders often confuse the diagnostic picture, as they may contribute to or account for the presenting symptoms of a laryngeal cleft. We propose a method to help clarify the clinical significance of the laryngeal clefts in these patients, and determine which patients would benefit from cleft repair. Eight patients with type IA laryngeal clefts are presented who were treated with a "test dose" Gelfoam injection into the interarytenoid area at the time of endoscopic diagnosis. All patients exhibited clinical improvement, and 4 patients showed improvement on the postinjection videofluoroscopic swallow study as compared to preoperative studies. One patient has gone on to surgical repair of the cleft after multiple injections. Endoscopic Gelfoam injection at the time of diagnosis can both alleviate symptoms and provide clarification of the posterior laryngeal cleft's contribution to the clinical status of the patient in these often complex cases.
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PMID:Diagnosis and determination of the clinical significance of type 1A laryngeal clefts by gelfoam injection. 1108 87

Gastroesophageal reflux is a common problem in infancy and childhood. However, it may be overlooked as a cause or complication of respiratory disease and/or neurobehavioral problems. In this report of a 5-year-old child with cerebral palsy, severe developmental delay, and asthma, Sandifer's syndrome was diagnosed after she was found to have gastroesophageal reflux disease (GERD). Awareness of GERD and Sandifer's syndrome may spare neurologically impaired children from persistent symptoms and delayed appropriate treatment.
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PMID:Sandifer's syndrome in a child with asthma and cerebral palsy. 1114 67


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