Gene/Protein Disease Symptom Drug Enzyme Compound
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Renal tubular acidosis is usually associated with chronic renal conditions and is rarely encountered in pregnancy. It may be inherited causing osteomalacia and rickets in children or acquired following autoimmune diseases or following exposure to nephrotoxic agents. It is known to worsen during pregnancy and if left untreated may cause maternal and foetal morbidity or death. We report a 28-year-old woman, gravida 3 para 2, who presented at 30 weeks gestation with lethargy, weakness and generalized myalgia. Investigation revealed severe hypokalaemia and a systemic metabolic acidosis due to proximal renal tubular acidosis. Her previous pregnancies were both complicated by foetal losses at term. Following prompt correction of her electrolyte disturbance and metabolic acidosis, she went on to deliver a healthy female infant at term. Regular evaluation up to 1 year post-partum revealed mild persistence of her hypokalaemia. At 1 year, the infant showed no signs of the disorder and is growing normally.
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PMID:Proximal renal tubular acidosis in pregnancy. A case report and literature review. 1690 7

Swine origin influenza was first recognized in the border area of Mexico and United States in April 2009 and during a short span of two months became the first pandemic. The currently circulating strain of swine origin influenza virus of the H1N1 strain has undergone triple reassortment and contains genes from the avian, swine and human viruses. It is transmitted by droplets or fomites. Incubation period is 2 to 7 days. Common clinical symptoms are indistinguishable by any viral respiratory illness, and include fever, cough, sore throat and myalgia. A feature seen more frequently with swine origin influenza is GI upset. Less than 10% of patients require hospitalization. Patients at risk of developing severe disease are - younger than five years, elderly, pregnant women, with chronic systemic illnesses, adolescents on aspirin. Of the severe manifestations of swine origin influenza, pneumonia and respiratory failure are the most common. Unusual symptoms reported are conjunctivitis, parotitis, hemophagocytic syndrome. Infants may present with fever and lethargy with no respiratory symptoms. Diagnosis is based on RT PCR, Viral culture or increasing neutralizing antibodies. Principle of treatment consist of isolation, universal precautions, good infection control practices, supportive care and use of antiviral drugs. Antiviral drugs effective against H1N1 virus include: oseltamivir and zamanavir. With good supportive care case fatality is less than 1%. Preventive measures include: social distancing, practicing respiratory etiquette, hand hygiene and use of chemoprohylaxis with antiviral drugs. Vaccine against H1N1 is not available at present, but will be available in near future.
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PMID:Swine origin influenza (swine flu). 1980 52

The World Health Organization (WHO) estimates that there are over 50 million cases of dengue fever reported annually and approximately 2.5 billion people are at risk. Mild dengue fever presents with headache, fever, rash, myalgia, osteogenic pain, and lethargy. Severe disease can manifest as dengue shock syndrome (DSS) or dengue hemorrhagic fever (DHF). Symptoms of DSS/DHF are leukopenia, low blood volume and pressure encephalitis, cold and sweaty skin, gastrointestinal bleeding, and spontaneous bleeding from gums and nose. Currently, there are no therapeutics available beyond supportive care and untreated complicated dengue fever can have a 50% mortality rate. According to WHO DSS/DHF is the leading cause of childhood mortality in some Asian countries. Dendritic cells are professional antigen presenting cells that are primary targets in a dengue infection. Dengue binds to Dendritic Cell-Specific Intercellular adhesion molecule-3-Grabbing Non-integrin (DC-SIGN). DC-SIGN has a high affinity for ICAM3 which is expressed in activating T-cells. Previous studies have demonstrated an altered T-cell phenotype expressed in dengue infected patients that could be potentially mediated by dengue-infected DCs.Dengue is enhanced by three interacting components of the immune system. Dengue begins by infecting dendritic cells which in immature dendritic cells is mediated by DC-SIGN. In mature dendritic cells, antibodies can enhance dengue infection via Fc receptors. Downstream of dendritic cells T-cells become activated and generate the very cytokines implicated in vascular leak and shock in addition to activating effector cells. Both the virus and the antibodies are involved in release of complement and anaphylatoxins which can cause or exacerbate DHF/DSS. These systems are inextricable and strongly associated with dengue pathogenesis.
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PMID:The relationship of interacting immunological components in dengue pathogenesis. 1994 67

We report a 14-year-old girl with juvenile dermatomyositis (JDM) complicated by severe inflammatory calcinosis successfully treated with thalidomide. She was diagnosed as JDM when she was 4 years old after a few months of increasing lethargy, muscle pain, muscle weakness, and rash. During three months, clinical manifestations and abnormal laboratory findings were effectively treated with oral prednisolone. However, calcinosis was recognized 18 months after disease onset. Generalized calcinosis rapidly progressed with high fever, multiple skin/subcutaneous inflammatory lesions, and increased level of CRP. Fifty mg/day (1.3 mg/kg day) of oral thalidomide was given for the first four weeks, and then the dose was increased to 75 mg/day. Clinical manifestations subsided, and inflammatory markers had clearly improved. Frequent high fever and local severe pain with calcinosis were suppressed. The levels of FDP-E, IgG, and tryglyceride, which were all elevated before the thalidomide treatment, were gradually returned to the normal range. Over the 18 months of observation up to the present, she has had no inflammatory calcinosis, or needed any hospitalization, although established calcium deposits still remain. Her condition became painless, less extensive and less inflammatory with the CRP level below 3.08 mg/dL. Recent examination by whole-body 18F-FDG-PET-CT over the 15 months of thalidomide treatment demonstrated fewer hot spots around the subcutaneous calcified lesions.
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PMID:Efficacy of thalidomide in a girl with inflammatory calcinosis, a severe complication of juvenile dermatomyositis. 2018 Oct 85

We report a case of malignant catatonia initially diagnosed as neuroleptic malignant syndrome (NMS) that responded successfully to diazepam administration. A 29-year-old man with mental retardation was admitted to our hospital because of high fever, muscle pain, and consciousness disturbance. Fifteen days before admission, he had developed muscle pain and weakness in his legs. He presented with fever, tachycardia, tachypnea, elevated blood pressure, excessive sweating, and neurological findings of lethargy and severe muscle rigidity in the neck and extremities. Laboratory findings included elevated serum creatine phosphokinase (CPK) level. His clinical features and the laboratory test results fulfilled the diagnostic criteria for NMS. He was treated for NMS with dantrolene sodium and bromocriptine mesylate for 2 weeks; however, there was no improvement. Therefore, treatment was changed to diazepam administration because of suspected malignant catatonia. One week after initiation of diazepam administration, his symptoms gradually improved, and the serum CPK level normalized. The diagnosis of malignant catatonia was confirmed because treatment with diazepam was dramatically effective, whereas the initial treatment for NMS was not beneficial. The clinical presentation of malignant catatonia is similar to that of NMS. Indeed, some authors have described NMS as a variant of malignant catatonia. If treatment is refractory in cases of NMS, malignant catatonia may be suspected, and changing treatment to diazepam administration may be useful.
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PMID:[Diazepam-responsive malignant catatonia in a patient with an initial clinical diagnosis of neuroleptic malignant syndrome: a case report]. 2151 31

The aim of this study was to investigate the predictive factors which contribute to diagnosis of hantavirus infection. One hundred patients from rural areas hospitalized with a preliminary diagnosis of hantavirus infection from different hospitals in Turkey were investigated. Hantavirus infection was confirmed in 20 patients (Group 1) using immunofluorescence and immunoblot assays at the Refik Saydam National Public Health Agency. Hantaviruses were not detected in the serum of the remaining 80 patients, other infectious and non-infectious diseases being diagnosed in this group (Group 2). Patients' demographic characteristics and clinical and laboratory data on admission were examined and compared between the two groups. Fever, proteinuria, hematuria, lethargy-weakness, and nausea-vomiting were the most frequent symptoms and findings in Group 1, seen in almost all patients. Proteinuria, hematuria, muscle pain, diarrhea/abdominal pain, hypotension, shock, and sweating were observed at significantly higher levels in Group 1 compared to Group 2. Serum urea, creatinine, uric acid, lactate dehydrogenase (LDH), aspartate transaminase (AST), alkaline phosphatase (ALP), and C-reactive protein (CRP) were significantly higher, but serum platelet counts were lower in Group 1 patients. Area beneath the receiver operating characteristics (ROC) curve analysis was used to calculate the discriminative ability of various laboratory values to identify patients with hantavirus infection. This analysis revealed that, serum CRP had a 100% negative predictive value, whilst, platelet, and creatinine had 75% and 70% positive predictive values for the diagnosis of hantavirus infection. In summary, laboratory markers used in clinical practice are of great importance predicting hantavirus infections.
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PMID:Can hantavirus infections be predicted on admission to hospital? 2299 82

FluMist is the first live attenuated, cold-adapted intranasal influenza vaccine (LAIV) approved for the prevention of influenza A and B. Clinical trials have shown that annual vaccination with LAIV is effective for the prevention of influenza. LAIV appears well tolerated in healthy patients 5-49 years of age. The most common adverse events are abdominal pain, chills, cough, diarrhea, headache, irritability, lethargy, muscle aches, otitis media, rhinitis, sinusitis, sore throat, and vomiting. FluMist has a novel intranasal route of administration that allows for influenza prevention without a painful intramuscular injection. Barriers preventing acceptance of LAIV include defining the appropriate patient population, cost, and insurance coverage.
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PMID:Influenza vaccination for the pediatric patient: a focus on the new intranasal, cold-adapted, live attenuated vaccine. 2311 96

A 64-year-old female was referred to the on-call surgical team by her general practitioner with a 2-week history of feeling generally unwell; more short of breath with lethargy and myalgia with a 2-day history of right upper quadrant abdominal pain. On initial assessment she was tachycardic and an abdominal examination revealed a soft abdomen with right upper quadrant tenderness. An abdominal ultrasound scan revealed a distended gall bladder with the diameter of the common bile duct at the upper limit of normal. It also revealed free fluid within the abdomen, bilateral pleural effusions and a large left ovarian cyst. The medical team became involved and ordered a CT thorax and abdomen which showed a large pericardial effusion, bilateral pleural effusions, a small amount of ascites and a large left ovary; reported as appearances most consistent with malignancy. On further assessment by a cardiologist the patient showed signs of cardiac tamponade and she underwent urgent pericardiocentesis.
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PMID:A delayed diagnosis of cardiac tamponade. 2358 Jun 67

Snake and spider bites, as well as scorpion sting envenoming, are neglected diseases affecting millions of people all over the world. Neurological complications vary according to the offending animal, and are often directly related to toxic effects of the venom, affecting the central nervous system, the neuromuscular transmission, the cardiovascular system, or the coagulation cascade. Snake bite envenoming may result in stroke or muscle paralysis. Metalloproteinases and other substances (common in vipers and colubrids) have anticoagulant or procoagulant activity, and may induce ischemic or hemorrhagic strokes. The venom of elapids is rich in neurotoxins affecting the neuromuscular transmission at either presynaptic or postsynaptic levels. The clinical picture of scorpion sting envenoming is dominated by muscle weakness associated with arterial hypertension, cardiac arrythmias, myocarditis, or pulmonary edema. These manifestations occur as the result of release of catecholamines into the bloodstream or due to direct cardiac toxicity of the venom. Cerebrovascular complications have been reported after the sting of the Indian red scorpion. Intracranial hemorrhages occur in the setting of acute increases in arterial blood pressure related to sympathetic overstimulation, and cerebral infarctions are related to either cerebral hypoperfusion, consumption coagulopathy, vasculitis, or cardiogenic brain embolism. Three main syndromes result from spider bite envenoming: latrodectism, loxoscelism, and funnel-web spider envenoming. Latrodectism is related to neurotoxins present in the venom of widow spiders. Most cases present with headache, lethargy, irritability, myalgia, tremor, fasciculation, or ataxia. Loxoscelism is caused by envenoming by spiders of the family Sicariidae. It may present with a stroke due to a severe coagulopathy. The venom of funnel-web spiders also has neurotoxins that stimulate neurotransmitter release, resulting in sensory disturbances and muscle paralysis. Proper management of the envenomed patient, including prompt transport to the hospital, correction of the hemostatic disorder, ventilatory support, and administration of antivenom, significantly reduce the risk of neurological complications which, in turn, reduce the mortality and improve the functional outcome of survivors.
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PMID:Neurological effects of venomous bites and stings: snakes, spiders, and scorpions. 2382 24

A 53-year-old Caucasian male with hypertension and active tobacco abuse presented to a community hospital with a 2-day history of vague abdominal pain, myalgia and increased lethargy after being bitten on his right hand by the family dog while camping just 3 days prior to symptom onset. He expired within 90 min upon arrival to our intensive care unit. Pre-mortem blood cultures grew a fastidious Gram-negative aerobic rod that was identified as Capnocytophaga canimorsus. Autopsy findings showed multi-organ disseminated intravascular coagulopathy with microthrombi along with bilateral adrenal hemorrhage and necrosis of the adrenal glands consistent with Waterhouse-Friderichsen syndrome. This case contributes to the medical literature as a rare presentation of Capnocytophaga canimorsus infection in an otherwise immunocompetent patient and stresses the importance of a thorough history taking and physical examination by clinicians along with prompt administration of appropriate antibiotics.
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PMID:A rare case of Waterhouse-Friderichsen syndrome caused by Capnocytophaga canimorsus in an immunocompetent patient. 2567 31


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