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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Esophageal dysfunctions occur frequently in patients with diabetic autonomic neuropathy, and the complication of gastroesophageal reflux disease (GERD) has also been reported. However, the characteristics of the GERD complicated with diabetes are obscure, because no detail assessment was performed. We recorded esophageal motility and acid reflux simultaneously in diabetic patients, and the correlation between esophageal dysfunction and diabetic neuropathy was examined. Esophageal dysfunctions including GERD were significantly related to diabetic motor neuropathy. Although the GERD is frequently complicated with diabetes, the symptoms are not apparent in diabetic patients. Therefore, physicians treating diabetic patients should have GERD in mind regardless of the symptoms. We also examined the effect of aldose reductase inhibitor (ARI) on the esophageal dysfunction in diabetic patients. Significant improvement of gastroesophageal reflux and esophageal motility were observed in diabetic patients by ARI treatment. ARI may be useful for the treatment of GERD complicated with diabetes.
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PMID:[Gastroesophageal reflux disease in diabetic patients]. 1534 49

Many phenotypic manifestations have been reported in cardiofaciocutaneous (CFC) syndrome, but none, to date, are pathognomonic or obligatory. Previous histopathological studies reported findings in skin and hair; no autopsy studies have been published. We report the clinical and autopsy findings of a 7-year-old boy with severe CFC syndrome and malnutrition of psychosocial origin. Manifestations of CFC, reported previously, included macrocephaly and macrosomia at birth; short stature; hypotonia; global developmental delays; dry, sparse thin curly hair; sparse eyebrows and eyelashes; dilated cerebral ventricles; high cranial vault; bitemporal constriction; supraorbital ridge hypoplasia; hypertelorism; ptosis; exophthalmos; depressed nasal bridge; anteverted nostrils; low-set, posteriorly-rotated, large, thick ears; decayed, dysplastic teeth; strabismus; hyperelastic skin; wrinkled palms; keratosis pilaris atrophicans faciei; ulerythema ophryogenes; hyperkeratosis; gastroesophageal reflux; and tracheobronchomalacia. Additional findings, not previously reported, include islet cell hyperplasia, lymphoid depletion, thymic atrophy and congenital hypertrophy of peripheral nerves with onion bulb formations. Although the islet cell hyperplasia, lymphoid depletion, and thymic atrophy are nonspecific findings that may be associated with either CFC or malnutrition, the onion bulb hypertrophy is specific for a demyelinating-remyelinating neuropathy. These findings implicate congenital peripheral neuropathy in the pathogenesis of the developmental delays, feeding difficulties, respiratory difficulties, ptosis and short stature in this case. Additional studies of other cases of CFC are needed.
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PMID:Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. 1600 34

Autosomal dominant hereditary sensory neuropathy (HSN I) is a clinically and genetically heterogeneous group of disorders, and in some families it is due to mutations in the serine palmitoyltransferase (SPTLC1) gene. We have characterized two families with HSN I associated with cough and gastro-oesophageal reflux (GOR). From a large Australian family, 27 individuals and from a smaller family, 11 individuals provided clinical information and blood for genetic analysis. Affected individuals had an adult onset of paroxysmal cough, GOR and distal sensory loss. Cough could be triggered by noxious odours or by pressure in the external auditory canal (Arnold's ear-cough reflex). Other features included throat clearing, hoarse voice, cough syncope and sensorineural hearing loss. Neurophysiological and pathological studies demonstrated a sensory axonal neuropathy. Gastric emptying studies were normal, and autonomic function and sweat tests were either normal or showed distal hypohidrosis. Cough was likely to be due to a combination of denervation hypersensitivity of the upper airways and oesophagus, and prominent GOR. Most affected individuals were shown on 24 h ambulatory oesophageal pH monitoring to have multiple episodes of GOR, closely temporally associated with coughing. Hoarse voice was probably attributable to acid-induced laryngeal damage, and there was no evidence of vocal cord palsy. No other cause for cough was found on most respiratory or otorhinological studies. Linkage to chromosome 3p22-p24 has been found in both families, with no evidence of linkage to loci for known HSN I, autosomal dominant hereditary motor and sensory neuropathy, hereditary GOR or triple A syndrome. These families represent a genetically novel variant of HSN I, with a distinctive cough owing to involvement of the upper aerodigestive tract.
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PMID:Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. 1631 Dec 70

We used a simple questionnaire to determine the presence or absence of symptoms of gastroesophageal reflux disease (GERD) among control (n=531) and diabetic patients (n=629). Of 531 controls, 24.3% reported having symptoms, while 24.9% of 629 diabetic patients had symptoms. Symptomatic diabetic patients (n=157) were then asked to complete a supplemental questionnaire (QUEST) to determine the frequency, severity, and duration of GERD symptoms; a total diagnostic score > or =4 was considered to be positive for GERD. Diabetic patients whose QUEST score was > or =4 had a significantly higher BMI (26.9+/-0.4* vs. 24.4+/-0.4), higher HbA1c (7.5+/-0.2* vs. 7.2+/-0.1), longer duration of diabetes (113.5+/-8.7* vs. 94.0+/-10.6 months), and a higher prevalence of diabetic complications (retinopathy, 24.8%* vs. 21.3%; nephropathy, 32.6%* vs. 19.4%; neuropathy, 30.4%* vs. 23.6%) than diabetic patients whose QUEST score was <4 (*p<0.05). In diabetic patients with GERD, therapy should include not only proton pump inhibitor therapy and other specific measures for GERD, but also appropriate therapy for the diabetes, particularly blood glucose control and weight reduction.
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PMID:Symptoms of gastroesophageal reflux in diabetes patients. 1790 82

Dejerine-Sottas disease (DSD) is a particular phenotype of the Charcot-Marie-Tooth (CMT) disease spectrum that is genetically heterogeneous. It represents a severe form of hypertrophic axonal and demyelinating neuropathy. Although it is predominantly inherited as an autosomal recessive condition, autosomal dominant inheritance has also been described. To date, the autosomal recessive forms of DSD are classified into several CMT type 4 (CMT4) subclasses based on allelic heterogeneity. We present a 7-year-old boy with a severe form of CMT disease consistent with the autosomal recessive phenotype of DSD. He was found to be a compound heterozygote for mutations in the PMP22 gene resulting in homozygous deletion of exons 2 and 3. The maternally inherited allele was the typical 1.5 Mb deletion involving PMP22 seen with hereditary neuropathy with liability to pressure palsy (HNPP). The paternally inherited allele was a deletion of exons 2 and 3. Both parents presented with a typical clinical picture of HNPP. To our knowledge, this is the first patient reported with large deletions involving both PMP22 alleles. Our patient has also developed severe gastroesophageal reflux disease (GERD), a clinical feature not previously reported with CMT or DSD. The correlation of the phenotype and the molecular defects observed in this patient may set a new subcategory in the classification of DSD.
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PMID:Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. 1869 10

Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance, achalasia of the cardia and alacrimia. Neurological abnormalities are associated with autonomic neuropathy, sensory and motor defects, deafness, mental retardation, Parkinsonism and dementia. The gene responsible is the ADRACALIN or AAAS encoding a protein called ALADIN. We report a case of a 19 year-old male, assessed when he was 10 years old in our department due to suspected storage disease. Mild mental and language retardation, hypernasal voice, sensory-motor neuropathy with autonomic involvement and signs of spastic paraparesis, alacrimia. gastroesophageal reflux, and achalasia. Molecular studies showed to mutations, the undescribed p.Tyr 19 Cys, and IVS14 +1 G.
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PMID:[Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene]. 2282 7

The problem of coupling of gastroesopahgeal reflux disease (GERD) and type 2 diabetes mellitus (DM2) remains to be elucidated. The relevant data are contradictory, but certain authors believe that GERD may sometimes be regarded as a complication of DM2. The possible pathogenetic mechanisms include diabetic nephropathy (leading to motor dysfunction of the upper digestive tract and dysregulation of the tone of the lower sphincter) and diabetic gastropathy (delayed gastric evacuation and disturbed motor and tonic functions of the upper gastrointestinal tract are additional preconditions for the development of pathologic gastroesophageal reflux). 78 patients with DM2 were divided into 2 groups depending on duration of the disease (below and above 7 years). The control group was comprised of 40 subjects with normal glucose tolerance. The presence and severity (frequency of erosive oesophageal lesions) of GERD were directly related to the duration of DM2. Other factors with which GERD is associated include insulin requirements and diabetic neuropathy. Patients with DM2 more frequently than controls suffer asymptomatic GERD resulting from visceral neuropathy. Patients with long-standing DM2 need examination of the upper digestive tract by instrumental methods (oesophagogastroduodenoscopy, 24hr potentiometry) even in the absence of continuous complaints of heartburn, acid regurgitation, and other typical manifestations of GERD for the early recognition of the disease and timely prescription of antireflux therapy.
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PMID:[Peculiarities of gastroesophageal reflux disease in patients with type 2 diabetes mellitus]. 2321 16

Cough lasting more than 8 weeks is considered chronic. If the classic causes of chronic cough have been discarded, vagus nerve sensory disturbances are currently considered the most important etiological cause. Patients with chronic cough of laryngeal origin have associated symptoms such as globus, dysphagia, dysphonia, dyspnoea and/or stridor. These patients are more likely to have paradoxical vocal fold movement. There is a higher cough reflex sensibility and neuropathic laryngeal response, mainly caused by viral infection or reflux. The cough associated with reflux has 2 mechanisms: Exposure to acid in the distal oesophagus (gastroesophageal reflux) and microaspiration of oesophageal contents into the larynx and tracheo-bronchial tree (pharyngo-laryngeal reflux). Laryngeal neuropathy hypersensitivity responds well to speech therapy as a treatment for refractory chronic cough. Because chronic cough is a sign of laryngeal sensory, neuropathy can improve with neuroleptic drugs such as amitriptyline and gabapentin.
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PMID:The role of the larynx in chronic cough. 2330 63

Chronic intestinal pseudo-obstruction (CIP) is a rare and serious disorder of the gastrointestinal (GI) tract characterized as a motility disorder with the primary defect of impaired peristalsis; symptoms are consistent with a bowel obstruction, although mechanical obstruction cannot be identified. CIP is classified as a neuropathy, myopathy, or mesenchymopathy; it is a neuropathic process in the majority of patients. The natural history of CIP is generally that of a progressive disorder, although occasional patients with secondary CIP note significant symptomatic improvement when the underlying disorder is identified and treated. Symptoms vary from patient to patient depending on the location of the luminal GI tract involved and the degree of involvement; however, the small intestine is nearly always involved. Common symptoms include dysphagia, gastroesophageal reflux, abdominal pain, nausea, vomiting, bloating, abdominal distension, constipation or diarrhea, and involuntary weight loss. Unfortunately, these symptoms are nonspecific, which can contribute to misdiagnosis or a delay in diagnosis and treatment. Since many of the symptoms and signs suggest a mechanical bowel obstruction, diagnostic tests typically focus on uncovering a mechanical obstruction, although routine tests do not identify an obstructive process. Nutrition supplementation is required for many patients with CIP due to symptoms of dysphagia, nausea, vomiting, and weight loss. This review discusses the epidemiology, etiology, pathogenesis, diagnosis, and treatment of patients with CIP, with an emphasis on nutrition assessment and treatment options for patients with nutrition compromise.
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PMID:Chronic intestinal pseudo-obstruction. 2361 3

Erythermalgia is a peripheral vascular disease triggered by exposure to heat. The primary infantile form is rare. No cases have been described in infants. We report a case in a 6-month-old child revealed by crying bouts associated with erythema of the lower limbs. A 6-month-old child was brought in for consultation for daily crying bouts, occurring six times a day, associated with erythema of the lower limbs. Blood count, abdominal ultrasound and endoscopy were normal, excluding gastroesophageal reflux and intussusception. Attacks disappeared during winter but recurred at high temperatures. The diagnosis was primary infant erythemalgia. Treatment with analgesics and ice packs was established. Erythermalgia is a rare peripheral vascular disease characterized by paroxysmal pain triggered by heat and relieved by cold. The primary form occurs in childhood but has never been reported in infants. The pathophysiology is based on an alteration of sodium channels inducing neuropathy in small-caliber fibers. Genetic mutations have been found in the SNC9 gene on chromosome 2q, with autosomal dominant transmission. Support of this condition is difficult due to resistance to conventional analgesics. The prognosis is sometimes poor with a significant death rate in the pediatric population.
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PMID:[Inconsolable crying revealing primary erythermalgia in a 6-month-old infant]. 2446 61


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