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)

The lymphoid follicles at the base of the tongue can be detected when examining the pharynx of adults, but the presence of large follicles, denoted "severe" hypertrophy of the base of the tongue (HBT) is rare. The objective of the present study was to identify severe HBT cases and their symptoms and to correlate them with the presence of pharyngolaryngeal signs and esophageal symptoms of gastroesophageal reflux (GER) in patients seen at a laryngology clinic. Severe HBT was considered to be present when the follicles prevented the view of the epiglottis or were massively distributed through the pharynx and larynx. Five cases of severe HBT were detected among 306 patients submitted to videolaryngoscopy over a period of 2 years, corresponding to 1.6% (5/306) of the total sample studied. However, this index markedly increases to 4% (4/101) among patients with pharyngolaryngeal signs of GER and reached 7.5% (4/53) among patients presenting GER symptoms such as heartburn, regurgitation, retrosternal burning feeling, and dysphagia. The complaints due to severe HBT were noisy respiration, hoarseness, throat clearing, dry cough, globus pharyngeus, and nasal voice. We conclude that the frequency of hypertrophied follicles is increased in the presence of signs and symptoms of GER and those HBT symptoms are confused with those of GER, except for nasal voice and noisy respiration.
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PMID:Severe hypertrophy of the base of the tongue in adults. 1546 3

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

It has been 2 decades since the rediscovery of Helicobacter pylori. Since that time, enormous advances have occurred: H. pylori is clearly felt to be a cause of peptic ulcer disease and gastric malignancies such as mucosa associated lymphoid tissue (MALT) lymphoma and a carcinogenic factor for gastric adenocarcinoma. These associations have led to clear indications for H. pylori treatment in certain conditions, but in other diseases where the associations are not as clear, the indications also remain relatively controversial. Clear indications for H. pylori treatment include patients with duodenal and gastric H. pylori associated ulcers and MALT lymphoma. In uninvestigated dyspepsia, there are also very clear benefits to H. pylori treatment whereas in non-ulcer dyspepsia, the benefits are controversial. H. pylori is certainly a risk factor for gastric adenocarcinoma but eradication of this infection has not yet been shown to reduce or eliminate the risk of developing this condition. The effect of H. pylori treatment in patients with gastroesophageal reflux disease is also unclear. There is a potential benefit in the prevention of atrophic gastritis but a potential disadvantage is the worsening of reflux disease, which has been suggested by certain studies. In addition, the interaction between H. pylori and nonsteroidal anti-inflammatory drugs (NSAIDs) appears quite complicated. Although there have been several advances in the last 2 decades with regards to the treatment of H. pylori, several controversies still exist, attesting to the requirement for further research.
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PMID:Treatment of Helicobacter pylori infection. 1648 66

Primary acquired nasolacrimal duct obstruction (PANDO) is a syndrome of unknown etiology, predominantly affecting post-menopausal females, characterized by progressive inflammation, fibrosis and subsequent obstruction of the nasolacrimal duct. Numerous factors have been proposed as possible etiologic factors and include anatomical configuration, ocular and nasal infections, peri-lacrimal vascular disorders, hormonal influence, lacrimal drainage lymphoid tissue, gastroesophageal reflux disease, topical medications, swimming pool exposure, smoking, genetic factors, autonomic and lysosomal dysregulation. The authors hypothesize Prolactin (PRL) and Prolactin-inducible protein (PIP) play a role in the etiopathogenesis of primary acquired nasolacrimal duct obstruction.
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PMID:Prolactin and Prolactin-inducible protein (PIP) in the pathogenesis of primary acquired nasolacrimal duct obstruction (PANDO). 3090 42

Follicular bronchiolitis (FB) is a rare bronchiolar disorder associated with hyperplasia of the bronchial-associated lymphoid tissue (BALT). It is characterized by the development of lymphoid follicles with germinal centers in the walls of small airways. It falls under the category of lymphoproliferative pulmonary diseases (LPDs) and commonly occurs in relation to connective tissue disease, immunodeficiency, infections, interstitial lung disease (ILD), and inflammatory airway diseases. Computerized tomography (CT) findings include centrilobular nodules with patchy ground glass infiltrate, tree-in-bud findings, and air trapping. It can very rarely present as diffuse cystic lung disease. We present two cases of FB. The first case is associated with Human Immunodeficiency Virus (HIV) infection and asthma with diffuse cystic changes on the CT. The second case is associated with reactive airway disease and gastroesophageal reflux disease (GERD) with the classic centrilobular nodules and ground glass opacities on the CT.
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PMID:Follicular Bronchiolitis: Two Cases with Varying Clinical and Radiological Presentation. 3204 93


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