Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022104 (irritable bowel syndrome)
 8,033 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyperparathyroidism is a common cause of hypercalcemia. The hypercalcemia usually is discovered during a routine serum chemistry profile. Often, there has been no previous suspicion of this disorder. In most patients initially believed to be asymptomatic, previously unrecognized symptoms resolve with surgical correction of the disorder. The symptoms of hyperparathyroidism are vague and often similar to symptoms of depression, irritable bowel syndrome, fibromyalgia or stress reaction. Complications of primary hyperparathyroidism include peptic ulcers, nephrolithiasis, pancreatitis and dehydration. Surgical management is usually indicated. When medical management is used, routine monitoring for clinical deterioration is recommended. Preoperative localization of adenomas with technetium Tc 99m sestamibi scan is possible but may be unnecessary. An experienced surgeon should perform the parathyroidectomy.
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PMID:Hyperparathyroidism. 957 20

We prospectively evaluated the initial presenting symptoms in 261 patients with Zollinger-Ellison syndrome (ZES) over a 25-year period. Twenty-two percent of the patients had multiple endocrine neoplasia-type 1 (MEN-1) with ZES. Mean age at onset was 41.1 +/- 0.7 years, with MEN-1 patients presenting at a younger age than those with sporadic ZES (p < 0.0001). Three percent of the patients had onset of the disease < age 20 years, and 7% > 60 years. A mean delay to diagnosis of 5.2 +/- 0.4 years occurred in all patients. A shorter duration of symptoms was noted in female patients and in patients with liver metastases. Abdominal pain and diarrhea were the most common symptoms, present in 75% and 73% of patients, respectively. Heartburn and weight loss, which were uncommonly reported in early series, were present in 44% and 17% of patients, respectively. Gastrointestinal bleeding was the initial presentation in a quarter of the patients. Patients rarely presented with only 1 symptom (11%); pain and diarrhea was the most frequent combination, occurring in 55% of patients. An important presenting sign that should suggest ZES is prominent gastric body folds, which were noted on endoscopy in 94% of patients; however, esophageal stricture and duodenal or pyloric scarring, reported in numerous case reports, were noted in only 4%-10%. Patients with MEN-1 presented less frequently with pain and bleeding and more frequently with nephrolithiasis. Comparing the clinical presentation before the introduction of histamine H2-receptor antagonists (pre-1980, n = 36), after the introduction of histamine H2-receptor antagonists (1981-1989, n = 118), and after the introduction of proton pump inhibitors (PPIs) (> 1990, n = 106) demonstrates no change in age of onset; delay in diagnosis; frequency of pain, diarrhea, weight loss; or frequency of complications of severe peptic disease (bleeding, perforations, esophageal strictures, pyloric scarring). Since the introduction of histamine H2-receptor antagonists, fewer patients had a previous history of gastric acid-reducing surgery or total gastrectomy. Only 1 patient evaluated after 1980 had a total gastrectomy, and this was done in 1977. The location of the primary tumor in general had a minimal effect on the clinical presentation, causing no effect on the age at presentation, delay in diagnosis, frequency of nephrolithiasis, or severity of disease (strictures, perforations, peptic ulcers, pyloric scarring). Disease extent had a minimal effect on symptoms, with only bleeding being more frequent in patients with localized disease. Patients with advanced disease presented at a later age and with a shorter disease history (p = 0.001), were less likely to have MEN-1 (p = 0.0087), and tended to have diarrhea more frequently (p = 0.079). A correct diagnosis of ZES was made by the referring physician initially in only 3% of the patients. The most common misdiagnosis made were idiopathic peptic ulcer disease (71%), idiopathic gastroesophageal reflux disease (GERD) (7%), and chronic idiopathic diarrhea (7%). Other less common misdiagnosis were Crohn disease (2%) and various diarrhea diseases (celiac sprue [3%], irritable bowel syndrome [3%], infectious diarrhea [2%], and lactose intolerance [1%]). Other medical disorders were present in 55% of all patients; patients with sporadic disease had fewer other medical disorders than patients with MEN-1 (45% versus 90%, p < 0.00001). Hyperparathyroidism and a previous history of kidney stones were significantly more frequent in patients with MEN-1 than in those with sporadic ZES. Pulmonary disorders and other malignancies were also more common in patients with MEN-1. These results demonstrate that abdominal pain, diarrhea, and heartburn are the most common presenting symptoms in ZES and that heartburn and diarrhea are more common than previously reported. The presence of weight loss especially with abdominal pain, diarrhea, or heartburn is an important clue suggesting the presence of gastrinoma. The presence of prominent gastric body folds, a clinical sign that has not been appreciated, is another important clue to the diagnosis of ZES. Patients with MEN-1 presented at an earlier age; however, in general, the initial symptoms were similar to patients without MEN-1. Gastrinoma extent and location have minimal effects on the clinical presentation. Overall, neither the introduction of successful antisecretory therapy nor widespread publication about ZES, attempting to increase awareness, has shortened the delay in diagnosis or reduced the incidence of patients presenting with peptic complications. The introduction of successful antisecretory therapy, however, has dramatically decreased the rate of surgery in controlling the acid secretion and likely led to patients presenting with less severe symptoms and fewer complications. (ABSTRACT TRUNCATED)
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PMID:Zollinger-Ellison syndrome. Clinical presentation in 261 patients. 1114 36

Dermatoses have been better characterized as hypochromic vitiligo in subjects with dark skin or the acquired racquet nails associated with hyperparathyroidism. The innate immunity has a central role in the new classification of auto inflammatory diseases, neutrophilic dermatoses, neutrophilic urticaria or pseudo-neutrophilic urticaria. Comorbidities have been studied e.g. cardiovascular co morbidities for psoriasis, IBD associated with hidradenitis suppurativa or neurological disorders associated with pemphigoid. Bullous pemphigoid could be renamed as cutaneous pemphigoid, it can be induced by drugs especially gliptins. Genetic predispositions are analyzed in auto inflammatory diseases, psoriasis (HLA), drug eruptions (HLA or cytokines). Telaprevir often induces rashes, which can be severe but other treatments against hepatitis C as interferon can also induce debilitating rashes, some eligible for drug tolerance induction. European guidelines for the definition, classification, diagnosis of chronic spontaneous urticaria have been published. Severe cutaneous adverse drug reactions may be associated with severe systemic symptoms such as organ involvement in AGEP or the occurrence of a shock in DRESS. Allover Europe, there is now an epidemic of contact allergies to methylisothiazolinone (MIT), contained in cosmetics, wet wipes but also in paints. MIT should be tested at 2.000 ppm in water, included in the standard series for patch tests. Its role has to be evoked in any case localized on the face or hand, airborne or generalized eczema. Among infectious diseases, skin manifestations due to Parvovirus have been specified, a febrile rash can be related to dengue infection or to Zika virus.
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PMID:[What's new in clinical dermatology?]. 2553 51