Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

BACKGROUND Prader-Willi syndrome (PWS) is a genetic disorder characterized by initial muscular hypotonia and feeding difficulties, and later an insatiable appetite, hyperphagia and obesity along with mild to moderate intellectual impairment. Affected individuals' food-seeking behavior and suspected delayed gastric emptying can lead to gastric dilatation with subsequent necrosis and perforation. CASE REPORT We present the case of a 5-year-old boy diagnosed with Prader-Willi syndrome at neonatal age due to muscular hypotonia, who started growth hormone therapy at 20 months. He presented with two episodes of a rapidly progressing gastric dilatation that led to abdominal hypertension and secondary shock at the age of 2 and 5. No large amount of food was eaten before any of the episodes, and he had abdominal pain and vomiting on both occasions. On arrival at the emergency room, a nasogastric tube was placed and aspiration of food material was performed. Abdominal X-ray and CT scan revealed massive gastric dilatation. He was admitted at the Pediatric Intensive Care Unit and after a variable period of fasting, tolerated oral intake and could be discharged. CONCLUSIONS Gastric dilatation due to gastroparesis in PWS is a rare complication. However, it is a life-threatening situation and physicians should therefore maintain a high level of suspicion for gastric dilatation when patients present with warning symptoms such as abdominal pain or discomfort and vomiting.
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PMID:Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome. 2858 53

Diabetes mellitus occurs in nearly 10% of patients with acromegaly and is secondary to insulin resistance caused by high levels of growth hormone. Diabetes ketoacidosis has been described as a rare complication of acromegaly, resulting from a relative insulin deficiency caused by growth hormone excess. We described the case of a 38 year-old man who presented to the emergency room with a 6-week history of polydipsia, polyuria, polyphagia and weight loss. He also had nausea, vomiting and abdominal pain from two days before admission. His plasma glucose level was 880 mg/dl, plasma osmolarity 368 mOsm/l, arterial pH 7.06 and serum bicarbonate 8.6 mEq/l. At the clinical examination, he had features of acromegaly. Magnetic resonance imaging showed a pituitary macro adenoma and growth hormone dosages were abnormally high. After tumor removal, plasma glucose levels became normal. This case shows the rare association between diabetic ketoacidosis and acromegaly. Surgery, in this case, was the definite modality of treatment.
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PMID:[Association between diabetic ketoacidosis and acromegaly]. 2965 65

The aim of the study was to investigate the effects of recombinant human growth hormone on protein malnutrition and insulin-like growth factor-1 (IGF-1) and interleukin-2 (IL-2) gene expressions in chronic nephrotic syndrome. Eighty patients with chronic nephrotic syndrome were admitted to our hospital. The patients were included in the study period from January 2015 to December 2016 and were divided into two groups (40 cases in each group) according to the random number method. All the patients enrolled received symptomatic and supportive treatment. The observation group was injected subcutaneously with recombinant human growth hormone, while the control group was treated with Shenyankangfu tablets. The recovery time of the clinical symptoms, change in serum protein, caloric intake and protein metabolism after intervention were compared between the two groups. Changes in serum cystatin C, IGF-1 and IL-2 before intervention, and at 1 week, 1 month and 3 months after intervention were detected, and the adverse reactions in the two groups were observed during the treatment. After intervention, the improvement time of proteinuria, hypoproteinemia, edema and hyperlipidemia in the observation group was significantly shorter than that in the control group (P<0.05). The expression of transferrin, pre-albumin, albumin and total protein in the observation group was significantly superior increased compared to those in the observation group prior to intervention and the control group after intervention (P<0.05). In addition the caloric intake, protein intake and urea nitrogen survival rate in the observation group were significantly superior to those in the observation group prior to intervention and the control group after intervention (P<0.05). At 1 week, 1 month and 3 months after intervention, the levels of serum cystatin C, IGF-1 and IL-2 in the observation group were markedly obviously lower than those in the control group during the same period (P<0.05). The total proportion of allergy, systemic pruritus, nausea and vomiting, abdominal distension and abdominal pain in the observation group was obviously lower than that in the control group (P<0.05). Compared with the traditional Chinese medicine Shenyankangfu tablets applied in the control group, the recombinant human growth hormone used for patients with chronic nephrotic syndrome can improve the clinical symptoms more quickly, regulate the protein metabolism and reduce the inflammatory response in the body, which also has fewer adverse reactions and higher safety.
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PMID:Effects of recombinant human growth hormone on protein malnutrition and IGF-1 and IL-2 gene expression levels in chronic nephrotic syndrome. 2972 65

Malignant hyperthermia is a pharmacogenetic disorder in the regulation of calcium in skeletal muscles which is related to an uninhibited muscle hypermetabolic reaction to potent inhalation agents, the depolarizing muscle relaxant succinylcholine, and to stressors such as vigorous exercise and heat. MH is diagnosed by the clinical presentation of the disease and laboratory testing. There are a few previous studies working on if there is an association between the occurrence of malignant hyperthermia and the existence of glucose 6-phosphate dehydrogenase (G6PD) deficiency, and there was no report on growth hormone doping in the literature. So, our main goal was to show this rare case of malignant hyperthermia seen in a G6PD patient with growth hormone abuse who underwent surgery and to find if there is an association between G6PD deficiency, growth hormone abuse, and malignant hyperthermia. Our patient was a 17-year-old boy with right lower quadrant abdominal pain and tenderness who underwent appendectomy. At the end of the operation, the patient developed with an increased heart rate (sinus tachycardia), increased body temperature and end-tidal carbon dioxide (ETCO2) level, masseter muscle rigidity, and then, generalized body rigidity, so the malignant hyperthermia susceptibility was considered. The patient was managed by cooling down the patient and the administration of dantrolene. We could hypothesize that malignant hyperthermia might be associated with G6PD deficiency as a triggering factor, but has no association with recombinant human growth hormone (rhGH) abuse. Another main lesson which this study tells us is to make a careful and proper history taking before going on an operation for preoperative evaluation and identification of patients with any form of suspicious drug abuse in order not to receive volatile inhalational agents and, also, performing some preventive measures including avoidance of heat extremes and restricting athletic activity in a patient with a history of malignant hyperthermia, and if the malignant hyperthermia susceptibility is suspected, urgent management should be carried out. As the association between G6PD deficiency, human growth hormone abuse, and malignant hyperthermia has remained unclear up-to-date, further potent studies are seriously needed in the future.
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PMID:Isoflurane Induced Malignant Hyperthermia in a Patient with Glucose 6-Phosphate Dehydrogenase Deficiency and Growth Hormone Abuse. 3283 62


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