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English to Chinese: X-linked adrenoleukodystrophy (X-ALD)-Case study General field: Medical Detailed field: Medical (general)
Source text - English Introduction
X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder with an incidence of 1:20,000 males. It is caused by defects of the ABCD1 gene on chromosome Xq28. X-ALD leads to the impairment of peroxisomal β-oxidation, accumulation of very long chain fatty acids (VLCFA), progressive demyelination of the nervous system, and adrenal insufficiency. The phenotypic presentations are highly variable, which may lead to delayed recognition and misdiagnosis as attention and/or hyperactivity deficit disorder in boys or multiple sclerosis in adults.
Hydrocortisone and mineralocorticosteroids are necessary to treat adrenal insufficiency. High doses of hydrocortisone preoperatively and during recovery are needed for surgery and other stressful illnesses in affected individuals.
Congenital pulmonary adenomatoid malformation (CPAM) is the most common cystic lung lesion diagnosed pre- and post-natally. CPAM may lead to respiratory distress, recurrent lung infections and pulmonary tumors if not surgically excised. In this report, we describe a preschool boy who presented with intermittent symptoms of respiratory distress, lethargy, dehydration, hypoglycemia, hypotension, hyperpigmentation and large CPAM. He was eventually diagnosed with adrenal insufficiency. He had a surgical removal of the CPAM to relieve his respiratory distress symptoms, prevent infections, and thwart cancerous transformation. Subsequently, he developed seizures and neurologic symptoms and was diagnosed with X-ALD after further evaluation.
The association of X-ALD or adrenal insufficiency with congenital respiratory lesions was not previously reported in the pediatric age group.
A 3-year-old presented with intermittent episodes of shortness of breath, lethargy, fatigability, vomiting, and "cyanotic" discoloration of his skin, lips, mucous membranes and nail beds for the past two years. He was thought to have methemoglobinemia due to persistent cyanosis. He was evaluated in several institutions for these problems but no specific diagnosis was ever made. He had one maternal uncle who died suddenly at 35 years of age and 4 full siblings (all males) who died of unknown causes between 2 and 4 years of age. His deceased siblings had similar symptoms and discoloration of mucous membranes. None of them had autopsies. He had 4 other siblings (2 brothers and 2 sisters) who were alive with no medical problems. He had normal electrolytes, blood urea nitrogen (BUN) and creatinine (Cr) levels on several occasions. He had normal results for cardiac examination, echocardiogram, hematologic evaluation and hemoglobin electrophoresis.
He was referred to our center for further evaluation of his cyanosis. The result of his physical examination was normal, except for the noted discoloration of his lips and nail beds. His arterial blood showed mild hypoxemia as follows: pH 7.32, PaCO2 37.1 mmHg, PaO2 86 mmHg, and HCO3 18.9mmol/L. His methemoglobin and carboxyhemoglobin levels were 1.10% and 0.3%, respectively. He had a previous chest X-ray during one of his prior admissions which was interpreted as normal. However, upon further examination of the film at our clinic, we identified a subtle parenchymal hyperlucency of a large part of his right mid-lung area. His chest computed tomography (CT) scan showed multiple cystic lesions in his right lung that was compatible with CPAM. CT scan of the abdomen showed no abnormalities of the adrenal glands, or other abdominal organs.
Before the surgical removal of his CPAM, he was admitted with lethargy, vomiting, dehydration, hypotension, and drowsiness. Laboratory results during this hospitalization were as follows: glucose, 2.42 mmol/L (44 mg/dl); sodium, 132 mmol/L; potassuim 3.8 mmol/L; chloride, 101 mmol/L; bicarbonate, 13 mmol/L; BUN, 7.5 mmol/L ; Cr, 17.68 umol/L ; calcuim, 2.17 mmol/L ; magnesium, 0.57 mmol/L; and phosphorous, 1.2 mmol/L .
After the initial resuscitation with boluses of 25% dextrose and normal saline solutions, a repeat glucose test showed a value of 21.78 mmol/L . One hour after that, his glucose level dropped again to 2.1 mmol/L , and a second 25% dextrose solution bolus was thus given. Our patient had low serum cortisol level, normal aldosterone, and normal growth hormone concentrations. His serum adrenocorticotropic hormone (ACTH) concentration was elevated at 2,630 pg/ml. ACTH stimulation test did not result in an increase in his cortisol levels. He had no detectable anti-adrenal antibodies and a non-reactive purified protein derivative skin test. He was started on hydrocortisone and fludrocortisone and had a surgical removal of the CPAM a few weeks later.
Our patient's serum ACTH concentration decreased to 13 pg/ml six months after the treatment. A pathological examination of the lung cysts showed multiple thin-walled cysts that ranged from 0.3 cm to 1.5 cm in diameter and filled with clear fluid. The cysts appeared to occupy approximately 90% of our patient's parenchyma. Microscopically, the cysts were lined with columnar (respiratory type) epithelium. This was compatible with the diagnosis of CPAM.
One year later, he was readmitted with a seizure and loss of consciousness. A brain magnetic resonance imaging (MRI) revealed bilaterally diffuse symmetric high T2 and FLAIR signal abnormality involving the white matter of several parts of his brain, which was suggestive of a diffuse and active demyelination process. He had elevated VLCFA levels, which was compatible with the diagnosis of X-ALD. Consequently, he was started on anti-seizure medications N-acetyl-L-cysteine, and was continued on corticosteroids. He was also referred for bone marrow transplant evaluation.
English to Chinese: Basic medicine-Pulmonary hypertension pathophysiology General field: Medical Detailed field: Medical (general)
Source text - English In rheumatic diseases (RD) pulmonary hypertension (PH) may result by either direct damage of the pulmonary arteries (isolated PH) or pulmonary interstitial fibrosis and other causes. PH is an important cause of morbidity and mortality in systemic sclerosis in which it is more frequently isolated in the limited cutaneous variant and secondary to interstitial fibrosis in the diffuse type. In isolated PH the main histopathological finding is an occlusive arteriopathy. The role of recurrent vasospasm ("lung Raynaud's phenomenon") is still being debated. In systemic lupus erythematosus, although uncommon, PH is being increasingly reported and may recognize multiple etiological factors including vasoconstriction, vasculitis, in-situ pulmonary thrombosis or chronic recurrent thromboembolism. PH may be a severe and often fatal complication of mixed connective tissue disease and dermato/polymyositis. PH may also be diagnosed in patients with rheumatoid arthritis, primary Sjögren's syndrome and primary antiphospholipid syndrome. Doppler echocardiography is the technique of choice for the evaluation of PH because it is nonivasive and allows serial determinations of the arterial pulmonary pressure. The therapy of PH associated with RD includes corticosteroids, immunosuppressive drugs, calcium-antagonists, ACE-inhibitors, anticoagulants, O2, prostacyclin or its stable analogue, iloprost. Carefully selected patients may benefit from single lung or heart-lung transplantation.
English to Chinese: Biochemistry-Role of protein kinase in melanogenesis General field: Medical Detailed field: Biology (-tech,-chem,micro-)
Source text - English Recent studies have implicated protein kinase C (PKC) specifically in the proliferation and differentiation of melanocytcs, but the range of PKC isozymes expressed in cells of this lineage and their physiological role remain undefined .
In human melanoma cells as well as in Cloudman S91, the β isoform of PKC has been reported to stimulate melanogenesis by activating tyrosinase. In contrast, B16 murine melanoma cells, which do not express β-PKC, can produce melanin either in vivo or in vitro. Furthermore, in these cells regulation of melanin synthesis was found to be associated with the expression of α-PKC.
It is now well established that in addition to tyrosinase there are other regulatory factors (TRP2, TRP1, silver protein, etc.) that play a considerable role in the melanogcnesis pathways. Biochemical studies have shown that these melanogenesis regulatory factors, though commonly distributed in different subcellular melanogenic compartments like coated vesicles, premelanosomes, melanosomes, etc. , have different activities. Pure coated vesicle fractions isolated from melanoma cells are devoid of melanin despite having high tyrosinase and dopachome tautomerase activity and being rich in melanin monomer. It is expected that post-translational modification of these regulatory proteins in different subcellular compartments might regulate the early and late stages of melanogenesis and thus affect the quality and quantity of melanin production.
Translation - Chinese 最近的研究已表明蛋白激酶 C (PKC) 在黑色素细胞增生和和分化中的特异作用。但并未明确蛋白激酶 C 同功酶在这类细胞中的表达范围及其生理作用。
据报道，在人黑色素瘤细胞以及Cloudman S91细胞中，蛋白激酶 C β 同功酶通过增加酪氨酸酶活性，进而激活黑色素形成。相反，B16 小鼠黑色素瘤细胞，虽不表达 β-蛋白激酶 C，亦可在体内或体外产生黑色素。此外，有研究发现，这些细胞中, 黑色素合成调控与α-蛋白激酶 C表达有关。
English to Chinese: Pharmacology-Mechanism of action of antiepileptic drugs General field: Medical Detailed field: Medical (general)
Source text - English Gamma-aminobutyric acid (GABA) has 2 types of receptors, A and B. When GABA binds to a GABA-A receptor, the passage of chloride, a negatively charged ion, into the cell is facilitated via chloride channels. This influx of chloride increases the negativity of the cell (ie, a more negative resting membrane potential). This causes the cell to have greater difficulty reaching the action potential. The GABA-B receptor is linked to a potassium channel.
The GABA system can be enhanced by binding directly to GABA-A receptors, by blocking presynaptic GABA uptake, by inhibiting the metabolism of GABA by GABA transaminase, and by increasing the synthesis of GABA.
GABA is produced by decarboxylation of glutamate mediated by the enzyme glutamic acid decarboxylase (GAD). Some AEDs may act as modulators of this enzyme, enhancing the production of GABA and down-regulating glutamate. Some AEDs function as an agonist to chloride conductance, either by blocking the reuptake of GABA (eg, tiagabine [TGB]) or by inhibiting its metabolism as mediated by GABA transaminase (eg, vigabatrin [VGB]), resulting in increased accumulation of GABA at the postsynaptic receptors.
Translation - Chinese γ-氨基丁酸 （GABA）含有两种类型受体，即A 型和B型。γ-氨基丁酸与其A型受体结合使得带有阴性电荷的氯离子经氯离子通道流入细胞增加。氯离子内流能增加细胞负性（例如，更负性的静息电位）， 从而使细胞更难于达到动作电位。γ-氨基丁酸B型受体则与钾离子通道耦联。
English to Chinese: Medical diagnosis test-Dengue Duo rapid test General field: Medical Detailed field: Medical (general)
Source text - English A commercial Dengue Duo rapid test kit was evaluated for early dengue diagnosis by detection of dengue virus NS1 antigen and immunoglobulin M (IgM)/IgG antibodies. A total of 420 patient +serum samples were subjected to real-time reverse transcription-polymerase chain reaction (RT-PCR), in-house IgM capture enzyme-linked immunosorbent assay (ELISA), hemagglutination inhibition assay, and the SD Dengue Duo rapid test. Of the 320 dengue acute and convalescent sera, dengue infection was detected by either serology or RT-PCR in 300 samples (93.75%), as compared with 289 samples (90.31%) in the combined SD Duo NS1/IgM. The NS1 detection rate is inversely proportional, whereas the IgM detection rate is directly proportional to the presence of IgG antibodies. The sensitivity and specificity in diagnosing acute dengue infection in the SD Duo NS1/IgM were 88.65% and 98.75%, respectively. The assay is sensitive and highly specific. Detection of both NS1 and IgM by SD Duo gave comparable detection rate by either serology or RT-PCR
I'm a native Chinese freelance translator specializing in medical, biomedical, life science, technical and scientific translations. I received a full medical training and used to work as a medical doctor for six years in China. I received my master’s degree in physiology from Canada and have worked as a biomedical researcher in US for many years.
This experience has provided me necessary background to deal with medical and life science documents and made me familiar with the idiomatic phrases and concepts associated with medical field. I always spend time editing and proofreading my translations and ensure that they are accurate and read smoothly.