Gene/Protein Disease Symptom Drug Enzyme Compound
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Heiner syndrome (HS) is a food hypersensitivity pulmonary disease that affects primarily infants, and is mostly caused by cow's milk (CM). Only a few reports have been published, which may be due to its misdiagnosis. We review here a series of eight cases. When first diagnosed they were 4-29 months of age. They were fed CM from birth and their chronic respiratory symptoms began at age 1-9 months. The symptoms were in the form of cough in seven, wheezing in three, hemoptysis in two, nasal congestion in three, dyspnea in one, recurrent otitis media (OM) in three, recurrent fever in four, anorexia, vomiting, colic or diarrhea in five, hematochezia in one, and failure to thrive (FTT) in two. All had radiologic evidence of pulmonary infiltrates. High titers of precipitating antibodies to CM proteins were demonstrated in six of six and milk-specific immunoglobulin E (IgE) was positive in one of two. Pulmonary hemosiderosis (PH) was confirmed in one patient who showed iron-laden macrophages (ILM) in the bronchoalveolar lavage (BAL), gastric washing, and open lung biopsy. Additional findings, in a descending frequency, were eosinophilia, anemia, and elevated level of total IgM, IgE or IgA. Milk elimination resulted in remarkable improvement in symptoms within days and clearing of the pulmonary infiltrate within weeks. Parents consented to milk challenge in only three cases, all of whom developed recurrence of symptoms. After 2 yr of milk avoidance in one patient, milk challenge was tolerated for 2 months, and then the patient developed symptoms, serum milk precipitins, pulmonary infiltrate, and ILM. The HS should be suspected in young children with chronic pulmonary disease of obscure cause. The diagnosis is supported with a positive milk precipitin test and improvement on a trial of milk elimination. Severe cases may be complicated with PH, which should be suspected in the presence of anemia or hemoptysis and be confirmed with the demonstration of ILM.
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PMID:Milk-induced pulmonary disease in infants (Heiner syndrome). 1617 5

Cow milk protein intolerance (CMPI) affects 3% of infants under the age of 12 months and is often misdiagnosed as GERD or colic, risking dangerous exposure to antigens. Most infants out grow CMPI by 12 months; however, those with IgE-mediated reactions usually continue to be intolerant to cow's milk proteins and also develop other allergens including environmental allergens that cause asthmatic symptoms. Clinical manifestations of CMPI include diarrhea, bloody stools, vomiting, feeding refusal, eczema, atopic dermatitis, urticaria, angioedema, allergic rhinitis, coughing, wheezing, failure to thrive, and anaphylaxis. The research and literature showed that CMPI is easily missed in the primary care setting and needs to be considered as a cause of infant distress and clinical symptoms. This article focuses on correctly diagnosing CMPI and managing it in the primary care setting.
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PMID:The diagnosis and management of cow milk protein intolerance in the primary care setting. 1641 42

Although the incidence of occupational and adult lead poisoning has declined, the problem still exists. We encountered three patients with lead poisoning in Iran, all of whom associated with presented with diffuse abdominal pain, which was at times colicky in nature, anemia, constipation, nausea, vomiting, and slightly abnormal liver biochemistries. A history of opium ingestion was present in each of these patients. None of the patients reported known occupational exposure to toxins. Diagnoses of lead poisoning were confirmed through the detection of elevated blood lead levels. The cause of lead poisoning was attributed to the ingestion of contaminated opium. Opium adulterated with lead had not been previously recognized as a source of lead poisoning in Iran. It is, therefore, pointed out that lead poisoning should be considered as a differential diagnosis for acute abdominal colic of unclear cause in patients with opium addiction.
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PMID:Abdominal pain due to lead-contaminated opium: a new source of inorganic lead poisoning in Iran. 1664 84

Adverse reactions to foods are frequent in everyday life. They are divided into toxic and immunologic food reactions. The awareness of toxic food reactions among adverse reactions to food is essential for correct diagnosis. Enzymatic food intolerance, adverse reactions to food or food additives, pharmacologic food intolerance, psychosomatic factors, food allergy with classic symptoms (anaphylaxis, urticaria-angioedema), atopic dermatitis, contact dermatitis (protein), upper and lower respiratory symptoms like rhinitis or asthma, and gastrointestinal disorders (oral allergy syndrome, colic, nausea, vomiting, diarrhea, abdominal pain) are discussed. Target organs throughout the body-ear, eye, pharynx, skin, lung, joints, and muscles-can be involved. The gold standard in diagnosis is a double-blind, placebo-controlled food challenge test. The diagnostic tools available for most food-related disorders are the skin-prick test and radioallergosorbent test. The treatment of food-induced urticaria consists of elimination of the offending food or substance from the diet, use of antihistamines, and immunotherapy.
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PMID:Adverse reactions to food and clinical expressions of food allergy. 1668 80

Chagas' disease (American trypanosomiasis) is an endemic parasitic disease in some areas of Latin America. About 16-18 million persons are infected with the aetiological agent of the disease, Trypanosoma cruzi, and more than 100 million are living at risk of infection. There are different modes of infection: (1) via blood sucking vector insects infected with T. cruzi, accounting for 80-90% of transmission of the disease; (2) via blood transfusion or congenital transmission, accounting for 0.5-8% of transmission; (3) other less common forms of infection, eg, from infected food or drinks or via infected organs used in transplants. The acute phase of the disease can last from weeks to months and typically is asymptomatic or associated with fever and other mild nonspecific manifestations. However, life-threatening myocarditis or meningoencephalitis can occur during the acute phase. The death rate for persons in this phase is about 10%. Approximately 10-50% of the survivors develop chronic Chagas' disease, which is characterized by potentially lethal cardiopathy and megacolon or megaoesophagus. There are two drugs available for the aetiological treatment of Chagas' disease: nifurtimox (Nfx) and benznidazole (Bz). Nfx is a nitrofurane and Bz is a nitroimidazole compound. The use of these drugs to treat the acute phase of the disease is widely accepted. However, their use in the treatment of the chronic phase is controversial. The undesirable side effects of both drugs are a major drawback in their use, frequently forcing the physician to stop treatment. The most frequent adverse effects observed in the use of Nfx are: anorexia, loss of weight, psychic alterations, excitability, sleepiness, digestive manifestations such as nausea or vomiting, and occasionally intestinal colic and diarrhoea. In the case of Bz, skin manifestations are the most notorious (e.g., hypersensitivity, dermatitis with cutaneous eruptions, generalized oedema, fever, lymphoadenopathy, articular and muscular pain), with depression of bone marrow, thrombocytopenic purpura and agranulocytosis being the more severe manifestations. Experimental toxicity studies with Nfx evidenced neurotoxicity, testicular damage, ovarian toxicity, and deleterious effects in adrenal, colon, oesophageal and mammary tissue. In the case of Bz, deleterious effects were observed in adrenals, colon and oesophagus. Bz also inhibits the metabolism of several xenobiotics biotransformed by the cytochrome P450 system and its reactive metabolites react with fetal components in vivo. Both drugs exhibited significant mutagenic effects and were shown to be tumorigenic or carcinogenic in some studies. The toxic side effects of both nitroheterocyclic derivatives require enzymatic reduction of their nitro group. Those processes are fundamentally mediated by cytochrome P450 reductase and cytochrome P450. Other enzymes such as xanthine oxidoreductase or aldehyde oxidase may also be involved.
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PMID:Toxic side effects of drugs used to treat Chagas' disease (American trypanosomiasis). 1693 19

Roux-en-Y jejunostomy (RYJ) permits enteral feeding in children unable to tolerate oral or intragastric feeds. It avoids many of the complications of nasojejunal and gastrojejunal tubes. Here we report our experience of intubated RYJ. By retrospective review of patient notes from 1998 - 2003, thirty-five children were identified. The median age was seven months (1 month - 16 years) and median follow-up was twenty-five months (1 - 55 months). There were no early postoperative complications or deaths. There were eighteen (51 %) late complications: peristomal leak (6), peristomal infection (2), bilious vomiting (5), tube displacement (3), abscess (1) and jejuno-colic fistula (1). Five children progressed to full oral feeds and had the RYJ resected. Fourteen of the twenty-eight children still alive remain fed by RYJ. Nine infants subsequently underwent fundoplication and gastrostomy with RYJ resection. Seven children died during the study period. RYJ is a straightforward procedure which can be performed safely in the face of poor nutrition and significant comorbidity. We recommend RYJ as a medium-term measure for enteral feeding.
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PMID:Roux-en-Y feeding jejunostomy in infants and children. 1740 18

Severe abdominal colic because of lead poisoning is an uncommon condition in adults. The diagnosis of lead toxicity is often delayed and abdominal pain is mistaken for acute abdomen. We describe three blood brothers who were involved in pottery glazing and suffered from repeated episodes of severe abdominal pain, nausea, vomiting, constipation and anemia due to lead toxicity. The patients had a history of several hospitalizations and one or two unnecessary laparotomies. One patient had wrists drop and weakness of the fingers extensors. All three patients had microcytic microchromic anemia with basophilic stippling of the erythrocytes, lead lines in X-ray of the knee joint and high blood lead levels. A diagnosis of lead poisoning was made and a course of chelating treatment started. Motor neuropathy, anemia and all gastrointestinal symptoms disappeared. Our report highlights the importance of taking a detailed occupational history and considering lead poisoning in the differential diagnosis of acute abdominal colic of unclear cause.
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PMID:Lead poisoning and recurrent abdominal pain. 1763 99

A 14-year-old boy presented with acute abdominal pain, vomiting and diarrhoea. Colo-colic intussusception was diagnosed by means of a colonic contrast X-ray. The intussusception was successfully reduced during this procedure. Hundreds of polyps were seen throughout the entire colon. Genetic research showed a mutation of the MutYH gene. Proctocolectomy with ileoanal pouch anastomosis was carried out. The pathology specimen showed an intramucosal carcinoma and multiple adenomas. MutYH-associated polyposis coli is an autosomal recessive disease that occurs as a result of a mutation in the MutYH gene. This will lead to polyposis coli. An intussusception is a rarely seen symptom. Patients need preventive surgical treatment because of the high risk developing a colorectal carcinoma.
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PMID:[A colo-colic invagination on the basis of MutYH-associated polyposis in a boy aged 14]. 1824 Jul 62

Although knowledge of intestinal parasites predates Hippocrates, the Hippocratic Corpus provides the first scientific observations about the clinical perception and treatment of helminthic diseases. These observations follow the scientific principles of Hippocrates, the father of modern medicine, who relied on knowledge and observation. This article is based on a systematic study of the Hippocratic texts, and presents observations on diseases caused by intestinal parasites with respect to regularity of appearance, patient age, symptoms, and treatment. Three types of helminths are described: "helmins strongyle" (roundworm), "helmins plateia" (flatworm), and "ascaris" (which corresponds to Enterobius vermicularis). Helminthic diseases primarily appear during childhood, well after teething. The described systemic symptoms include weakness, sickness, discomfort, tiredness, anorexia, and emotional instability; gastrointestinal symptoms include change in bowel movements, vomiting, and colic pain in the epigastrium. We identified several accounts of cases of helminthic diseases in the Hippocratic texts. Of particular interest are the descriptions of a helminth emerging from a fistula in the navel region and the surgical treatment of helminthic diseases, reinforced by being described on a dedicatory inscription at the Asclepion in Epidaurus. We finally encountered the use of powerful purgatives as antihelminthics, which have been widely used, even into the 21st century.
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PMID:From the roots of parasitology: Hippocrates' first scientific observations in helminthology. 1791 92

A 13-year-old boy was referred to our hospital for investigation of intermittent abdominal colic pain and vomiting. He underwent an emergency laparotomy, which revealed a volvulus and segmental dilatation of the ileum. The dilated intestine was not associated with poor intestinal circulation. Because the dilated ileum did not seem to be the cause of the volvulus, we simply released the volvulus. However, after surgery, the patient still suffered from persistent abdominal pain, further episodes of volvulus, and invagination of the dilated ileum. Thus, we performed a second operation to resect the segmental dilatation of the ileum. Pathological examination revealed that most of the mucosa of the dilated ileum was composed of ectopic gastric mucosa. We postulate that the ectopic gastric mucosa led to the formation of segmental dilatation of the ileum.
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PMID:Segmental dilatation of the ileum covered almost entirely by gastric mucosa: report of a case. 1803 May 75


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