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)

Patients with developmental disorders, including adolescents, comprise a large and heterogeneous group of individuals who vary in underlying diagnosis and degree of disability. The largest numbers of patients are those with cerebral palsy and with traumatic brain injury. While these conditions themselves do not directly cause airway or parenchymal lung dysfunction, consequences of neuromuscular dysfunction, especially aspiration and ineffective cough, may lead to lung damage. Poor nutritional status, impairment of airway clearance by muscular weakness or incoordination and poor pulmonary reserve (due to chest wall or spine deformity) increase the risk of significant morbidity and mortality from respiratory infections. Individuals who were premature infants or who had prolonged neonatal courses may also have residual chronic lung disease (bronchopulmonary dysplasia) contributing to their pulmonary problems. This review discusses conditions that have adverse effects on the airway and lung (drooling, feeding problems, gastroesophageal reflux, aspiration, spasticity, scoliosis) and some of the consequences of these insults (disordered airway clearance, pneumonia, sleep apnea). Also discussed are issues important to the prevention or amelioration of respiratory difficulties, including preventive care, the effects of exercise, dental hygiene, and surgical intervention.
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PMID:Respiratory problems in the adolescent with developmental delay. 1106 May 58

Aicardi syndrome is an X-linked-dominant condition characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. We reviewed the Aicardi Syndrome Foundation's compilation of family-based, self-reported questionnaires for the year 2000. Information was obtained from 77 females with Aicardi syndrome regarding developmental milestones, seizure frequency, seizure classification, antiepileptic drug use, and medical problems. Patient ages ranged from 1 to 25 years (mean = 7.2 years). All patients were significantly developmentally delayed with milestones ranging from 2 to 36 months. Of the patients, 91% attained milestones no higher than 12 months. Seizures were reported in 92% of patients and occurred daily in 67%. Infantile spasms were the most common seizure type observed in 17%, although a variety of other seizure types were also reported. Multiple antiepileptic drugs were used in these patients with 73% of patients taking two or more antiepileptic drugs. Five patients had a vagal nerve stimulator implanted, and one patient underwent a hemispherectomy. The most common medical problems cited included scoliosis, constipation, gastroesophageal reflux, aspiration pneumonia, and otitis media, but overall health was perceived to be good. Our review demonstrates the spectrum of developmental disabilities, epilepsy severity, and prognosis in a large group of Aicardi patients.
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PMID:Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. 1250 1

Sleep problems are common in many pediatric medical disorders and complicate management and patient outcomes. A wide range of conditions, including asthma, cystic fibrosis, sickle cell disease, gastroesophageal reflux, neuromuscular diseases, scoliosis, craniofacial abnormalities, obesity, and chromosomal disorders, have various sleep disturbances, including sleep-disordered breathing, ventilatory dysfunction, sleep-onset and sleep maintenance problems, and circadian rhythm disturbances. Given the adverse neurocognitive and physiologic outcomes associated with a deranged night's sleep, it is important for pediatricians to be able to anticipate, recognize, and appropriately manage these problems. This article reviews the known sleep-related problems of a few relatively common pediatric disorders.
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PMID:Sleep problems in children with common medical disorders. 1500 90

We report the development and spontaneous resolution of annular erythematous skin lesions consistent with sarcoid dermatitis in a child with DiGeorge syndrome (DGS) carrying the 22q11.2 microdeletion. The skin lesion developed after she was treated with isoniazid (INH) following exposure to active tuberculosis (TB). After resolution of the skin lesions, this child developed sterile hyperplastic osteomyelitis consistent with SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) osteomyelitis in her right mandible triggered by an odontogenic infection. This child had congenital heart disease, dysmorphic facies, recurrent sinopulmonary infection, gastroesophageal reflux disease, scoliosis, reactive periostitis, and developmental delay. She had a low CD4 and CD8 T cell count with a normal 4/8 ratio, but normal cell proliferation and T cell cytokine production in response to mitogens. When she was presented with sterile osteomyelitis of right mandible, she revealed polyclonal hypergammaglobulinemia with elevated erythrocyte sedimentation rate (ESR)/angiotensin converting enzyme (ACE) levels, but negative CRP. Autoimmune and sarcoidosis workup was negative. Inflammatory parameters gradually normalized following resolution of odontogenic infection and with the use of non-steroidal anti-inflammatory drugs (NSAIDs). The broad clinical spectrum of DGS is further expanded with the development of autoimmune and inflammatory complications later in life. This case suggests that patients with the DGS can present with unusual sterile inflammatory lesions triggered by environmental factors, further broadening the clinical spectrum of this syndrome.
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PMID:SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome. 1649 84

A 14-year-old girl with severe scoliosis and sliding esophageal hiatal hernia underwent laparoscopic fundoplication for gastroesophageal reflux. Of various fundoplication procedures, anterior partial fundoplication (Thal fundoplication) was performed because it is effective, with less postoperative gas bloat syndrome. Laparoscopic fundoplication in severely scoliotic children could allow improved operative visibility and easier access to the hiatus in comparison with the open approach. In our "modified anterior partial fundoplication," the sutures between the crura and the esophagus and the sutures on the left of esophageal wall with the fundus of the stomach could be exactly performed by laparoscopic surgical technique. The wrapping of the esophagus in fundoplication was done over the ventral 180 degrees to 270 degrees. Six months postoperatively, the patient did not develop gas bloat syndrome, distal esophageal obstruction from fundoplication, and delayed gastric emptying. Modified anterior partial fundoplication achieves effective control of reflux symptoms.
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PMID:Laparoscopic modified Thal fundoplication for gastroesophageal reflux in a patient with severe scoliosis and sliding esophageal hiatal hernia. 1701 Dec 52

Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years. Although most patients remain small, obesity may develop. Gastroesophageal reflux persists or worsens, and there are early long-term sequelae, including Barrett esophagus in 10%; other gastrointestinal findings include risk for volvulus, rumination, and chronic constipation. Submucous cleft palate was found in 14%, most undetected before our evaluation. Chronic sinusitis was noted in 39%, often with nasal polyps. Blepharitis improves with age; cataracts and detached retina may occur. Decreased bone density is observed, with occasional fractures. One quarter have leg length discrepancy and 39% scoliosis. Most females have delayed or irregular menses but normal gynecologic exams and pap smears. Benign prostatic hypertrophy occurred in one male prior to 40 years. The phenotype is variable, but there is a distinct pattern of facial changes with aging. Premature gray hair is frequent; two patients had cutis verticis gyrata. Behavioral issues and specific psychiatric diagnoses, including self-injury, anxiety, attention-deficit disorder, autistic features, depression, and obsessive-compulsive behavior, often worsen with age. This work presents some evidence for accelerated aging in CdLS. Of 53% with mutation analysis, 55% demonstrate a detectable mutation in NIPBL or SMC1A. Although no specific genotype-phenotype correlations have been firmly established, individuals with missense mutations in NIPBL and SMC1A appear milder than those with other mutations. Based on these observations, recommendations for clinical management of adults with CdLS are made.
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PMID:Natural history of aging in Cornelia de Lange syndrome. 1764 42

Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection and management of clinical complications such as scoliosis and febrile seizures. An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the patients. Final body height is difficult to predict but growth tends to normalize after puberty.
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PMID:Sotos syndrome. 1782 4

We present a case of tracheobronchomalacia caused by thoracic morphologic changes associated with severe scoliosis. The patient underwent fundoplication for gastroesophageal reflux. After the operation, the patient developed clinically significant tracheobronchomalacia. Tracheobronchial reinforcement and splinting with autologous cartilage grafts was initially performed to externally stent the trachea. Next, tracheopexy of the intrathoracic trachea and sternal elevation was performed using a pectus bar to correct the tracheal compression between the sternum and the spine. Because the cervical trachea was compressed between the innominate artery and the cervical spine, external stenting and tracheopexy of the cervical trachea as well as anterior suspension of the innominate artery were performed. At present, the patient has a Tracheostoma Retainer in place and is being followed as an outpatient without the need for mechanical ventilation. Multistaged techniques for tracheobronchomalacia because of an abnormal chest configuration therefore offer the potential to achieve the long-term release of airway obstruction.
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PMID:Multistage approach for tracheobronchomalacia caused by a chest deformity in the setting of severe scoliosis. 1787 46

Single center experience with thoracoscopic repair of esophageal atresia with distal fistula and of tracheomalacia. Between May 2000 and December 2006, 51 neonates with an esophageal atresia were presented for thoracoscopic repair. Gestational age varied from 31 3/7 to 42 2/7 weeks (M = 37 2/7). Birth weight was between 1025 g and 4030 g (mean 2620 g). Concomitant anomalies or VACTERL association were encoutered in 31 patients (61%). Duration of the operation was from 90 minutes to 390 minutes (mean 178 minutes). All but 1 patient had an esophageal atresia with a distal fistula. Six patients had tracheomalacia requiring aortopexia, which was performed thoracoscopically. In 2 patients the thoracoscopic procedure had to be converted to a thoracotomy. All other patients underwent a successful thoracoscopic repair. One patient died in the postoperative period because of sepsis. A total of 22 patients (45%) developed a stenosis in the postoperative follow up (1 month-7y 7 month) requiring 1 to 18 dilatations (mean 1.5). Postoperative leakage occurred in 9 patients (18%). Recurrent fistula was encountered in 2 patients. A total of 11 patients (22%) underwent a laparoscopic antireflux procedure for either recurring stenosis (8) or ALTES (3). Six children (12%) underwent thoracoscopic aortopexy for tracheomalacia. In 2 children symptoms recurred for which a successful repeat thoracoscopic aortopexy was undertaken. The thoracoscopic approach to the treatment of esophageal atresia and tracheomalacia is becoming increasingly accepted. The cosmesis is undoubtedly better. The secundary effects like thoracic cage deformities, winged scapula, or scoliosis have not yet been described and are expected to be reduced in comparison to the open technique. Sequelae like leakage, stenosis, recurrent fistulae, and GERD and ALTES will probably remain the same. Whether thoracoscopic dissection has less detrimental effect on disturbed motility remains to be proven. Thoracoscopic aortopexy for severely symptomatic tracheomalacia is relatively simple. Even repeat thoracoscopic aortopexy is not that difficult. It was immediately effective in 2/3 of the patients.
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PMID:Thoracoscopic treatment of esophageal atresia with distal fistula and of tracheomalacia. 1793 63

Although initial prognosis of oesophageal atresia is nowadays excellent with more than 95% of survival, the long-term complications are frequent. A gastro-oesophageal reflux is found in 26 to 75% of the cases, responsible for peptic oesophagitis, anastomotic stenosis and Barrett's oesophagus, risk factor of adenocarcinoma of the oesophagus. A dysphagia is frequently observed on these patients, sometimes several years after the surgery, observed in almost 45% of five-year-old children. Growth retardation is found in nearly a third of these children. Respiratory symptoms are particularly frequent, especially in the first years, associating tracheomalacia facilitating the bronchopulmonary infectious episodes (found in about 30% of 5-year-old children). Esotracheal fistula recurrence is very rare. A deformation of the rib cage is reported in 20%, and a scoliosis in 10% of the patients. However, the quality of life of these patients in the adulthood is good, and influenced by the existence of associated malformations. Even if the current prognosis of oesophageal atresia is good altogether, the frequency of the complications (digestive, respiratory, nutritional, orthopaedic) far from the initial intervention, and the necessity of a surveillance of the secondary oesophageal damages, justifies a systematic and multidisciplinary follow-up until adulthood.
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PMID:[Outcome of children with repaired oesophageal atresia]. 2003 71


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