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Biomedical subjects

S Hing

Publications and source records attributed to S Hing.

13 recordsLinked to original sources

Gain of 1q is associated with adverse outcome in favorable histology Wilms' tumors.

Although several genes/genetic loci involved in the etiology of Wilms' tumor have been identified, little is known of the molecular changes associated with relapse. We therefore undertook an analysis by comparative genomic hybridization (CGH) of 58 tumor samples of favorable histology Wilms' tumor taken at initial diagnosis and/or relapse. Tumors with anaplastic histology were excluded as this is known to be associated with p53 mutation and a poor prognosis. A control group of 21 Wilms' tumors that did not relapse was also analyzed. The overall frequency of gains or losses of genetic material detected by CGH was similar in both groups (77% in relapsing tumors and 70% in the nonrelapse group) as was the median number of changes per tumor (relapse group: n = 4, range, 1 to 19; nonrelapse group: n = 3, range, 1 to 8). However, gain of 1q was significantly more frequent in the relapse series [27 of 46 (59%) versus 5 of 21 (24%), P: = 0.019]. In 12 matched tumor pairs, the CGH profiles, including 1q gain, were similar at diagnosis and relapse, with little evidence for further copy number changes being involved in clonal evolution. The results suggest that 1q gain at diagnosis could be used to identify patients with favorable histology Wilms' tumor at increased risk of relapse who might benefit from early treatment intensification.

Chromosome Aberrations↗

The effect of prepubertal diabetes duration on diabetes. Microvascular complications in early and late adolescence.

OBJECTIVE: To define the significance of prepubertal diabetes duration in the development of diabetic microvascular complications in adolescents. RESEARCH DESIGN AND METHODS: Study A compares complications in 38 prepubertal (PreP) and 140 pubertal (Pub) subjects of the same age (10-14 years) and diabetes duration (3-12 years) to determine if the absence of puberty itself confers a lower risk of complications. Study B examines the importance of prepubertal and pubertal diabetes duration in 193 older adolescents (ages 15-22 years) with prepubertal onset of diabetes. Retinopathy status was assessed using stereoscopic fundus photography of seven fields per eye. Albumin excretion rate (AER) was assessed by three consecutive overnight urine collections, using a polyclonal radioimmunoassay. RESULTS: In study A, there were no significant differences between the PreP and Pub groups for retinopathy (27 vs. 29%, P = 0.8) or differences in elevated AER (17 vs. 31%, P = 0.1). In study B, longer prepubertal diabetes duration improved the prediction for retinopathy over postpubertal duration alone (P < 0.0005). No relationship with duration was found for elevated AER (> 7.5, > 15, and > 30 micrograms/min). CONCLUSIONS: Prepubertal subjects with diabetes did not have less retinopathy or elevated albumin excretion compared with pubertal subjects of the same age. Prepubertal diabetes duration is significantly related to the presence of retinopathy in adolescents.

Adolescent↗

Serologic and DNA follow-up data from HBsAg-positive patients treated with orthotopic liver transplantation.

Fifteen hepatitis B surface antigen (HBsAg) positive patients treated with orthotopic liver transplantation were studied to determine whether any clinical, serologic, or histologic data were predictive for recurrent hepatitis B infection leading to graft failure. Six patients died early, one due to primary graft nonfunction and the remaining five due to septic complications. There were nine patients surviving longer than two months, eight of whom are alive at a mean follow-up of 556 days. HBsAg and hepatitis B core antibody (anti-HBc) reappeared in the sera of all survivors after a variable transient period of clearance. One patient died 3 months posttransplant of fungal sepsis and was found to have histologic evidence for recurrent hepatitis and positive immunoperoxidase staining postmortem. The remaining eight survivors are home and clinically well, with no histologic evidence of hepatitis. Seven of these eight patients have hepatitis B viral DNA in their sera. We conclude that while there is a high early mortality, usually from sepsis, none of the serologic, histologic, or DNA data analyzed can be used to predict graft loss from recurrent hepatitis. No grafts have been lost due to recurrent hepatitis B in this series, and therefore we believe that HBsAg positive patients should not be excluded from transplantation.

Adult↗

Hemifacial spasm in infancy.

Three infants presented with the onset of hemifacial spasm after birth and at the age of 10 months. One patient was found to have occlusion of the straight sinus and large collateral veins at the base of the brain, presumably due to venous sinus thrombosis, supporting the concept of vascular compression of the facial nerve at its exit from the brain stem as a mechanism for the production of hemifacial spasm. The other patients each had an intrinsic mass compressing the fourth ventricle, located in the lower pons and extending into the cerebellar vermis and right cerebellar peduncle in one; in the other patient, the mass involved the cerebellar vermis and right middle cerebellar peduncle alone. These patients widen the etiologic spectrum of the syndrome and show that serious intracranial diseases may underlie hemifacial spasm in infancy.

Brain Neoplasms↗

Lens surgery in infancy and childhood.

The medical records of 224 children who had lens surgery performed at the Hospital for Sick Children during the 10-year period 1978-88 were reviewed. There were 12 children with ectopia lentis; these patients achieved a mean postoperative acuity of 0.68 (6/8.8), and no operative or postoperative complications were noted. Two hundred and twelve children had lens surgery for cataracts or for retrolental abnormalities with a clear lens. Children with bilateral congenital cataracts achieved a mean acuity in the better eye of 0.32 (6/18). In a series of carefully controlled unilateral congenital cataracts the visual results were poor. The postoperative complication rate for cataract and clear lens surgery was 4.6%. Because visual results are probably better with early surgery we emphasise that every newborn baby should be tested for media opacities.

Cataract↗

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.

A female infant is described with an unusual combination of eye and skin findings. Raw linear skin lesions on the face and neck were present at birth, healing to leave pigmented streaks. In addition she had left sided microphthalmia and bilateral sclerocornea. Chromosome analysis showed a terminal deletion of the short arm of the X chromosome (Xp22.2--pter). Clinical findings were similar to three previously described children with translocations involving Xp22.3. The condition probably represents a new syndrome distinct from incontinentia pigmenti and Goltz syndrome.

Chromosome Deletion↗

Multiple tandem 18-kb sequences clustered in the region of the acute promyelocytic leukemia breakpoint on chromosome 17.

This paper describes the cloning of an 18-kb sequence present in approximately 30 copies on chromosome 17. Most of these are clustered in the region of the breakpoint associated with acute promyelocytic leukemia (APL). These copies map both above and below the breakpoint, and pulsed field gel analysis indicates that the majority of these sequences lie within a region of approximately 2 megabases. The organization of these sequences appears to be that of large imperfect palindromes.

Animals↗

Complete cryptophthalmos: case report with normal flash-VEP and ERG.

We report an infant with bilateral complete cryptophthalmos as part of Fraser Syndrome. Clinical examination and recordings of the electroretinogram and flash visual evoked potential showed a functional visual pathway at retinal and post-retinal levels. Anatomical considerations and the possible complications of surgery made reconstruction of the lids and palpebral fissures inappropriate.

Abnormalities, Multiple↗

Postoperative endophthalmitis in children following cataract surgery.

Three children developed endophthalmitis after cataract surgery. Each had signs and symptoms of either nasolacrimal duct obstruction or upper respiratory infection at the time of surgery. The causative organisms were Staphylococcus aureus, Staphylococcus epidermidis, and Streptococcus pneumoniae. Final visual acuities were 6/24, LP, and NLP, respectively. Endophthalmitis after cataract surgery in infants has never been reported. These three cases drawn from two pediatric ophthalmology practices represent an incidence of postoperative endophthalmitis of 0.45%. Although this incidence report is potentially spurious, it indicates that postoperative endophthalmitis is a very real threat in infants. We recommend a thorough systems review and exam of upper airways and lacrimal system before undertaking intraocular surgery in young children. We also caution against simultaneous bilateral surgery.

Anti-Bacterial Agents↗

Bilateral blinding uveitis in a child after secondary intraocular lens implantation for unilateral congenital cataract.

A 3-year-old boy underwent secondary implantation of an iris supported intraocular lens following extraction of a unilateral congenital cataract. Eight months later, he developed a bilateral plastic uveitis which, in spite of intensive medical treatment, resulted in NPL (no perception of light) in the implanted eye and 2/60 vision in the fellow eye. Sympathetic ophthalmia possibly played a role in the pathogenesis of the uveitis.

Anti-Bacterial Agents↗