Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The patient, a 78-year-old female with history of headache and progressive gait disturbance for almost one year, was admitted to our department because of dysphagia and dysphonia since three months before. Neurological examination revealed nystagmus, cerebellar ataxia, deafness, and vesical incontinence. No cerebral injuries were detected by computed tomography (CT) scan, although Paget's. Disease of Bone (PDB) was suggested, confirmed by biochemical and scintigraphic studies. The plain skull X-ray showed platybasia. As all the disarrangements were not explained by PDB complications alone, nuclear magnetic resonance imaging (MRI) was performed which demonstrated an Arnold-Chiari malformation (ACM) type I, with mild tonsillar herniation and anterior compression of the brainstem due to basilar impression, without syringomyelia. The association of PDB and ACM is a peculiarity seldom reported. The surgical approach was rejected, but the severity of symptoms and osteitis deformans biochemical activity needed a treatment; it was orientated to modify bone turnover using etidronate, a bisphosphonate, which induced clinical improvement and a decrease in serum alkaline phosphatase as well as in other bone resorption markers, without side effects. The good status and biochemical remission have been maintained a year later.
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PMID:[Paget's disease of bone and basilar impression associated with an Arnold-Chiari type-1 malformation]. 942 43

In 1996, one hundred health histories of HIV serum positive patients were reviewed using the Elisa and Western Blot techniques at the Arzobispo Loayza National Hospital. Such cases were defined according to Case Definition 1987 CDC/WHO. 70% of HIV serum positive patients showed gastrointestinal symptoms according to the first medical examination. 57% of the patients were younger than 30 years old, most of them were men (men/ women ratio: 2.7/1). 59% of the patients were heterosexual, 26% bisexual, and 15% homosexual. Chronic diarrhea was the main symptom, characterized by watering depositions over 10c/d. Giardia lamblia was isolated in 32% of the cases, while Isospora Belli in 16% and Criptosporidium in 12.5%. The laboratory findings of 7 patients (12.5%) were negative. Patients showed more than 10% weight loss. 10% of the patients had an anorectal disease while 7 of the patients (10%) had an hepatic-billiary disease. The odynophagia and dysphagia were explained by oropharyngeal candidiasis. 2.8% of the patients had acalculous cholecystitis; 2.8% suffered from acute pancreatic disease and 1.4% ascitis. The hepatic biochemistry was affected by the serum albumin reduction, the transaminases increase over 2-3 times compared to normal levels and the alkaline phosphatase, bilirrubina was about 5 mg. The high endoscopic diagnostic was in connection to the candida esophagitis and inflammatory pathology. In proctoscopy, condyloma acuminatum and perianal fistula were the most usual findings. The counting of CD4 leukocytes in 20 patients showed a great reduction of CD4 lymphocytes, in values lesser than 200 cel/mm3. The relation CD4/CD8 goes from 0.01 to 0.91 rates.
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PMID:[GASTROINTESTINAL SYMPTOMS IN ACQUIRED IMMUNODEFICIENCY SYNDROME (AIDS): A REVIEW OF ONE HUNDRED CASES AT "ARZOBISPO LOAYZA" HOSPITAL] 1217 15

Desmoid type fibromatosis (DTF) is a rare, locally invasive, non-metastasizing soft tissue tumor. We report an interesting case of DTF involving the pancreatic head of a 54-year-old woman. She presented with intermittent dysphagia and significant weight loss within a 3-mo period. Laboratory findings showed mild elevation of transaminases, significant elevation of alkaline phosphatase and direct hyperbilirubinemia, indicating obstructive jaundice. Computerized tomography of the abdomen revealed a mass in the head of the pancreas, dilated common bile duct, and dilated pancreatic duct. Endoscopic retrograde cholangiopancreatography and endoscopic ultrasound showed a large hypoechoic mass in the head of the pancreas causing extrahepatic biliary obstruction and pancreatic ductal dilation. The patient underwent a successful partial pancreatico-duodenectomy and cholecystectomy. She received no additional therapy after surgery, and liver function tests were normalized within nine days after surgery. Currently, surgical resection is the recommended first line treatment. The patient will be followed for any recurrence.
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PMID:Desmoid type fibromatosis: A case report with an unusual etiology. 2897 21

Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, seizures, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins. Among these, PGAP3 mutations are associated with HPMRS type 4. We report two siblings with a novel homozygous variant in PGAP3 expanding both the phenotypic findings and the mutational spectrum of HPMRS type 4. Developmental delay, hypotonia, facial dysmorphism were the consistent findings with HPMRS in our patients. Large anterior fontanel size, gum hypertrophy, pes equinovarus, concentric ventricle hypertrophy, frontoparietal atrophy and dysphagia were the findings of our patients that have been reported for the first time in this syndrome. Although there is an extensive list of differential diagnoses in patients with developmental delay and hypotonia, the recognizable pattern of facial features, parental consanguinity and mild to moderate serum ALP elevation should be sufficiently suggestive of HPMRS type 4.
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PMID:Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum. 3021 54