PubMed Health⌕ Search

Biomedical subjects

T C Chow

Publications and source records attributed to T C Chow.

At least 19 recordsLinked to original sources

Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.

The authors describe two novel mutations of the acid alpha-glucosidase gene, P361L and R437C, which define the juvenile-onset glycogen storage disease type II (GSDII) in a 16-year-old Chinese patient. The asymptomatic 13-year-old brother of the proband is also a compound heterozygote of the two mutations. These results confirm that intrafamilial phenotypic variation of juvenile-onset GSDII is ethnically diverse and suggest the contribution of other genes to the phenotypic variability of GSDII.

Adolescent↗

Respiratory insufficiency in a Chinese adult with mitochondrial myopathy.

Mitochondrial myopathy is an important but uncommon cause of respiratory insufficiency in adults. We report the first case of respiratory insufficiency associated with adult-onset mitochondrial myopathy seen in a Chinese adult in Hong Kong. The patient presented with peripheral oedema and shortness of breath over 2 to 3 days. There was a history of gradual progressive limb weakness over approximately 2 years, hypertrophic cardiomyopathy, intermittent diarrhoea, and weight loss. The diagnosis was made by skeletal muscle biopsy and molecular study, which revealed the A3243G point mutation.

Adult↗

Classic late infantile neuronal ceroid lipofuscinosis in a Chinese patient.

Neuronal ceroid lipofuscinoses are a group of rare neurodegenerative disorders that are characterised by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues. We report on a 4-year-old boy who presented with an acute onset of seizures followed by rapid psychomotor deterioration, ataxia, and visual failure. Photic stimulation at 1 to 3 Hz elicited discrete spike and wave discharges in the electroencephalogram, which were diminished at a higher frequency of stimulation. The electroretinogram was extinct. Magnetic resonance imaging of the brain showed generalised cerebral and cerebellar atrophy. Electron microscopic examination of lymphocytes and samples of muscle and skin revealed characteristic curvilinear inclusion bodies. To our knowledge, this is the first case of late infantile neuronal ceroid lipofuscinosis to be reported in a Hong Kong Chinese patient.

Aminopeptidases↗

Classifying the location of osteosarcoma with reference to the epiphyseal plate helps determine the optimal skeletal resection in limb salvage procedures.

Between 1989 and 1996, 21 skeletally immature patients were treated for osteosarcoma of the extremity. Their average age was 12.6 years (range 9-16 years). We classified the location and extent of the lesion in bone on magnetic resonance imaging (MRI) with reference to the growth plate and joint margin into five subtypes. This classification served as a guide for the level of resection and the type of reconstruction required for a limb salvage procedure. All patients received neoadjuvant chemotherapy using a modified T10 protocol before the definitive operation. These patients were followed up for periods ranging from 11-86 months, with a mean of 35. 5 months. Patients were assessed for (1) local tumour recurrence, (2) metastatic disease, (3) allograft complications and (4) extremity function and joint stability. Excellent function was retained in 2, good in 13 and fair function in 6 patients. The MRI classification proved useful for the resection and provides an insight into the possible functional outcomes.

Adolescent↗

Three Hong Kong Chinese cases of pretibial epidermolysis bullosa: a genodermatosis that can masquerade as an acquired inflammatory disease.

Three patients in two families presented with many years' history of fragile skin, blisters, erosions and scars affecting almost exclusively the shin areas, accompanied by a variable degree of itching. Two of the patients also had toenail dystrophy. Skin biopsy revealed dermal-epidermal blister formation and milia but no immunohistochemical evidence of immunoglobulin or complement deposition. Electron microscopic study of the lesional and perilesional skin showed very sparse or absent anchoring fibrils. Immunolabelling for type VII collagen using LH 7.2 monoclonal antibody revealed a bright, linear staining pattern at the dermal-epidermal junction. The clinicopathological features were thus compatible with pretibial epidermolysis bullosa, a subtype of dystrophic epidermolysis bullosa. Of note, the inflammatory nature of the skin lesions, and their resemblance to nodular prurigo and hypertrophic lichen planus, had caused diagnostic difficulties in all cases in the past. A high degree of awareness of this rare subtype of epidermolysis bullosa is important to establish the correct diagnosis, to allow for genetic counselling and to plan clinical management.

Adolescent↗

Use of low molecular weight heparin in postangioplasty management.

The results of using low molecular weight heparin (LMWH) in postangioplasty management are examined. In comparison to intravenous unfractionated heparin, subcutaneous LMWH caused less groin complications and was simpler and cheaper to be administered by the medical personnel. The incidence of ischaemic complications after angioplasty including acute closure and myocardial infarction, however, remained similar and was not excessive. Subcutaneous administration of LMWH provides and alternative simple and cost-effective strategy for postangioplasty management.

Aged↗

Bacterial colonization of bone allografts related to increased interval between death and procurement: an experimental study in rats.

Whereas organs from donors must be removed almost immediately after death to maximize organ viability in the recipient, there is a slightly longer window for tissue allograft recovery. To determine the maximum safe interval after death within which bone allografts may be harvested for clinical use, an experimental model was devised using adult Sprague-Dawley (SD) rats and duplicating cadaveric storage techniques. Allografts were procured at increasing time intervals after death. The grafts were then transplanted to 80 living SD rats, and the animals killed at 7 weeks to evaluate any increase in the risk of infection and bacterial colonization. None of the allografts procured within 48 h after death were colonized with bacteria, while 12% of grafts procured at 96 h and 50% of allografts procured at 1 week were colonized. The results suggest that it may be possible to extend the safe period within which cadaveric tissue may be procured for transplantation to up to 96 h following death, provided scrupulous measures to prevent and detect microorganism contamination are followed.

Animals↗

A characteristic dissection microscopy appearance of a renal biopsy of a Fabry heterozygote.

We report a 15-year-old Fabry heterozygote presenting to us with asymptomatic proteinuria. During the dissection-microscopic examination, the glomeruli exhibited a characteristic swollen, glistening and white appearance. They were swollen and bulged out from the surface of the renal core. The glomerular tufts appeared to be filled with opaque and whitish material giving them a pale white discoloration. This appearance is due to the accumulation of glycosphingolipids in visceral epithelial cells of the kidney. This feature is important for the investigation of female patients with asymptomatic proteinuria, as in two thirds of Fabry heterozygotes the characteristic skin lesions are absent, and thus heterozygous Fabry disease may not be considered. We suggest that this easily demonstrable appearance can be the first evidence for the disease and pathologists should be aware of it in future.

Adolescent↗

Inoue balloon pericardiotomy for patients with recurrent pericardial effusion.

The results and follow-up data for 11 patients with recurrent effusion due to various etiologies who underwent balloon pericardiotomy with the Inoue balloon catheter between May 1992 and July 1994 are described. Inoue balloon pericardiotomy was successful in 10 patients (91%), who remained free of pericardial effusion at a mean follow-up duration of 4.2 months. All patients tolerated the procedure well with minimal discomfort and with no complications. Despite good symptomatic relief, 9 patients (82%) eventually succumbed to disease dissemination, with a mean survival time of 1.4 months. It is concluded that Inoue balloon pericardiotomy is a safe and useful alternative to surgical pericardial windowing for the symptomatic treatment of recurrent pericardial effusion.

Catheterization↗

[The influence of small dose intrathecal fentanyl on shivering during transurethral resection of prostate under spinal anesthesia].

Shivering during spinal anesthesia is a common complication in patients undergoing transurethral resection of prostate. The high incidence of shivering may be due to decreased core temperature secondary to peripheral vasodilation from sympathetic blockade and/or cold irrigation fluid. Shivering is known to increase O2 consumption, ventilation and cardiac output, which can result in morbidity to patients with limited cardiopulmonary reserves. The aim of this randomized double-blind study was to investigate whether 1.25 micrograms of intrathecal fentanyl administered would influence the incidence and severity of shivering in patients who underwent TURP under spinal anesthesia. In the present study, 79 patients with (n = 41) or without (n = 38) low dose fentanyl were study. The incidence of shivering was 65.8% in control group and 12.2% in the study group. The difference was statistical significance. The shivering grade (1.0 +/- 0 vs 1.76 +/- 0.7) and accumulative shivering scores (2.4 +/- 0.8 vs 12.5 +/- 5.6) were also significantly decreased in the study group (P < 0.05). Obviously, there was no difference in the incidence of pharmacologic side effect. We concluded that low dose intrathecal fentanyl is a god method for decreasing both incidence and severity of shivering during spinal anesthesia.

Aged↗

Experience of anesthesia for transthoracic endoscopic sympathectomy in palmar hyperhidrosis--110 cases.

Transthoracic endoscopic sympathectomy (TES) is an effective treatment for palmar hyperhidrosis. We review our experience and discuss the anesthetic technique and perioperative complications encountered in 110 patients undergoing TES for palmar hyperhidrosis. All patients were monitored with EKG, NIBP and pulse oximetry (SPO2) during the operation. The trachea was intubated with a single lumen endotracheal tube and ventilation was controlled manually. 100% inspired oxygen was necessary during TES to avoid hypoxia. One patient developed sudden cardiac arrest during electrocauterization of the left sympathetic chain and two patients required underwater drainage for hemothorax. Minimal pneumothorax was diagnosed in 4 patients and all cases resolved spontaneously without active treatment.

Adolescent↗