Juvenile papillomatosis of the breast associated with neurofibromatosis 1.
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Breast Neoplasms, Male↗
Biomedical subjects
C W Chow
Publications and source records attributed to C W Chow.
Clinical features and outcomes of childhood dilated cardiomyopathy: results from a national population-based study.
BACKGROUND: Despite considerable mortality, population-based prognostic factors for childhood dilated cardiomyopathy are lacking. METHODS AND RESULTS: A population-based cohort study was undertaken of all children in Australia who presented with cardiomyopathy at age 0 to 10 years between January 1, 1987, and December 31, 1996. A single cardiologist analyzed all cardiac investigations, and a single pathologist analyzed histopathological material. There were 184 subjects with dilated cardiomyopathy. Positive viral identification or lymphocytic myocarditis was found in 30 (68.2%) of 44 cases with available early histology and 8 of 9 cases presenting with sudden death. Freedom from death or transplantation was 72% (95% CI, 65% to 78%) 1 year after presentation and 63% (95% CI, 55% to 70%) at 5 years. By proportional hazards regression analysis, risk factors for death or transplantation comprised age >5 years at presentation (hazard ratio 5.6, 95% CI, 2.6 to 12.0), familial dilated cardiomyopathy (hazard ratio, 2.9; 95% CI, 1.5 to 5.6), lower initial fractional shortening z score (hazard ratio per z-score unit, 0.75; 95% CI, 0.65 to 0.87), and failure to increase fractional shortening z score during follow-up (hazard ratio per unit increase, 0.68; 95% CI, 0.58 to 0.79). At follow-up, 78 (44.6%) of 175 cases diagnosed during life have no symptoms and are not taking any cardiac medication. CONCLUSIONS: Early mortality is high in childhood dilated cardiomyopathy, but the clinical status of long-term survivors is good. This population-based study identifies children at risk of adverse events.
Cardiomyopathy, Dilated↗
Optical label switching of DRZ/DPSK orthogonal signal generated by photonic-crystal fiber.
We demonstrate orthogonal label switching by using a dark-return-to-zero (DRZ) payload and differential phase-shift keying (DPSK) label generated by a dispersion-flattened photonic-crystal fiber. The high extinction ratio of both the payload and label improves the receiver margin. The DRZ payload introduces little cross talk to the DPSK label due to the RZ-like output of the demodulated DPSK. Simulations are performed to study the eye-closure penalty of the payload and label at different DRZ pulse widths. We compare the DRZ/DPSK with the RZ and DPSK signals numerically at the same data rate and show that the DRZ/DPSK has a strong tolerance to the polarization-mode dispersion. The DRZ/DPSK has a more compact spectrum suitable for the strong filtering requirements in WDM systems.
Journal Article↗
Nonlinear polarization rotation in a dispersion-flattened photonic-crystal fiber for ultrawideband (>100 nm) all-optical wavelength conversion of 10 Gbit/s nonreturn-to-zero signals.
We study the conversion bandwidth of the cross-polarization-modulation (XPoIM)-based wavelength conversion scheme with a dispersion-flattened highly nonlinear photonic-crystal fiber for signals with a nonreturn-to-zero (NRZ) modulation format. Both theoretical and experimental results show that the conversion bandwidth can be extended to cover a very wide band, including S-, C-, and L-bands for 10 Gbit/s NRZ signals (a total bandwidth of 120 nm is experimentally demonstrated). We also study the theoretical bandwidth limit for 40 Gbit/s NRZ signals. A significant extension of the conversion bandwidth using the XPoIM approach compared with the four-wave mixing approach previously reported is demonstrated.
Journal Article↗
Nasal dermoid sinus cysts: a retrospective review and discussion of investigation and management.
Nasal dermoid sinus cysts are uncommon congenital anomalies presenting either as cysts or sinuses. They are frequently associated with extension into the intracranial space, requiring craniotomy for adequate resection. At the Royal Children's Hospital in Melbourne, Australia, we have managed 25 patients with nasal dermoid sinus cysts over 8 years and present details of clinical features, preoperative assessment, and surgical management. Six patients presented with infection, including 1 with osteomyelitis. Four of our patients had intracranial extension of their lesions, and all were treated successfully with tailored investigation and appropriate surgical procedures. Insights into diagnosis, investigation, and surgery are offered to facilitate the management of these challenging lesions.
Child↗
Clinical features and outcomes of childhood hypertrophic cardiomyopathy: results from a national population-based study.
BACKGROUND: Population-based studies have provided insight into the natural history of adult hypertrophic cardiomyopathy, but comparable information for affected children is lacking. METHODS AND RESULTS: All Australian children who presented with primary cardiomyopathy at 0 to 10 years of age between January 1, 1987, and December 31, 1996, were enrolled in a longitudinal cohort study. A single cardiologist reviewed serial cardiac investigations on each subject. A total of 80 subjects with hypertrophic cardiomyopathy were identified. An underlying syndromal, genetic, or metabolic condition was identified in 46 subjects (57.5%). There were no cases of sudden death at presentation. Left ventricular outflow tract obstruction was present in 32 subjects (40%); right ventricular outflow obstruction was present in 10 (12.5%). Freedom from death or transplantation was 83% (95% CI, 73 to 90) 5 years after presentation and 76% (95% CI, 62 to 86) 10 years after presentation. By proportional-hazards regression analysis, risk factors for death or transplantation included concentric left ventricular hypertrophy, age at presentation <1 year, lower initial fractional shortening Z score, and increasing left ventricular posterior wall thickness relative to body surface area. At the latest follow-up, 54 of 65 surviving subjects had no symptoms, and 46 were receiving no regular medication. CONCLUSIONS: Syndromal, genetic, and metabolic causes predominate in children with hypertrophic cardiomyopathy. Ventricular outflow tract obstruction is common. The clinical status of long-term survivors is good. This population-based study identifies children with hypertrophic cardiomyopathy who are at risk of adverse events.
Arrhythmias, Cardiac↗
Increased chromosome instability but not cancer predisposition in haploinsufficient Bub3 mice.
Mitotic spindle checkpoint proteins have been shown to play a crucial role in the accurate segregation of chromosomes during cell division. Bub3 is a member of a group of mitotic checkpoint proteins that are essential for this process. To investigate the role of Bub3 in chromosome segregation and cancer development, we analyzed haploinsufficient cells in mice. Heterozygous Bub3 embryonic fibroblasts displayed increased aneuploidy and premature sister-chromatid separation. In addition, when challenged with the microtubule disruptor nocodazole, the cells showed a slight increase in chromatid breakage and a decrease in the mitotic index. No substantial differences were observed between wild-type and Bub3 heterozygous mice in the frequency or the rate at which tumors appeared. Crossing Bub3(+/-) mice onto a heterozygous tumor-suppressor background of Trp53 or Rb1 similarly revealed no substantial differences in either the number or the rate at which tumors appeared. These results suggest that haploinsufficiency of Bub3 causes a slight increase in chromosome instability but is not clearly associated with a noticeable rise in the probability of tumor formation in the animal, possibly because of a partially functional mitotic checkpoint, or cells exhibiting chromosome instability could have activated the apoptosis pathway and thus escaped tumor induction and detection.
Aneuploidy↗
Severe fetal brain dysgenesis with focal calcification.
OBJECTIVE: To describe a fetal syndrome of abnormal brain development with intracranial calcification, identified in three successive pregnancies. METHODS: Clinical, imaging, and pathological descriptions, and pedigree assessment. RESULTS: All three affected pregnancies were terminated, following imaging diagnosis of brain abnormality. The most complete fetal study, from the third of these pregnancies, showed widespread foci of brain calcification not associated with inflammation, with extensive necrosis and calcification of periventricular white matter, but with sparing of thalamus and basal ganglia. The corticospinal tracts were severely hypoplastic. CONCLUSION: This condition appears to be a 'new' genetically determined, probably autosomal recessive disorder of severe early brain dysgenesis with focal calcification, resembling, but distinct from, certain other clinical genetic entities of which brain calcification is a part.
Abnormalities, Multiple↗
Urethral polyps in prepubertal girls.
PURPOSE: Urethral polyps in girls are included in the differential diagnosis of interlabial masses. Only 6 cases have been described in the English literature to date and etiology is uncertain. We present 5 more cases and review the literature. We also propose an etiology for urethral polyps in young girls and compare polyps between girls and boys as well as older females. MATERIALS AND METHODS: The medical records of prepubertal girls with urethral polyps seen at our hospital between 1980 and 2003, including operative reports and followup, were reviewed. A senior pathologist re-inspected the specimens to confirm the diagnosis. A MEDLINE search of urethral polyps was performed. RESULTS: We identified 5 girls 2 to 10 years old with urethral polyps. All girls presented with "vaginal" bleeding, 1 had recurrent urinary tract infections and vulvitis, 1 had urinary frequency, and 1 had painful voiding. The polyps were not site specific and were located in the distal, mid and proximal urethra. All polyps were excised and were found benign. Four girls were cured after 1 procedure, while in one girl the polyp reappeared. The patients were followed for 1 to 17 years and eventually became asymptomatic. CONCLUSIONS: Urethral polyps in prepubertal girls are probably benign. We suggest that the etiology of most of polyps in girls is similar to those in older females, that is a prolapsing urothelium that has evolved into a polyp.
Child↗
Optical packet labeling based on simultaneous polarization shift keying and amplitude shift keying.
We propose and demonstrate label encoding-swapping and transmission for an orthogonally labeled packet by use of a 10-Gbit/s amplitude shift keying payload and a 2.5-Gbit/s polarization shift keying (PolSK) label. A simple scheme for demodulating and demultiplexing the PolSK label based on an injection-locked Fabry-Perot laser diode is described. The extinction ratio of the newly added PolSK label can be precisely controlled and maintained after the intermediate node.
Journal Article↗
Respiratory chain enzyme analysis in muscle and liver.
Respiratory Chain (RC) enzyme analysis remains the mainstay for diagnosis of children suspected of having a RC disorder. A previous international workshop suggested a set of criteria for the ideal approach to diagnosis but concluded that probably no single centre fulfilled all these criteria. Major practical issues relate to the range of tissues tested, whether frozen tissue biopsies can be used reliably, assay methods, difficulty in defining realistic reference ranges, and the lack of an external quality assurance scheme. We discuss these issues and describe our experience over the last decade with assaying RC enzymes in over 600 skeletal muscle and 300 liver biopsies from patients, a range of different controls (other known inborn errors, end-stage liver disease, post-mortem samples) and single donated normal muscle and liver samples assayed on more than 100 occasions over 5- to 10-year periods. Our experience is that 'sick' tissues have wider 'normal' ranges than 'healthy' tissues. Caution is therefore needed to ensure that secondary RC defects are not misdiagnosed as primary RC defects. We describe diagnostic criteria that integrate the results of RC enzyme assays with clinical, histological, metabolic and molecular investigations to determine whether the overall diagnostic certainty is possible, probable or definite.
Journal Article↗
Ovarian lesions in children and adolescents--an 11-year review.
OBJECTIVE: To describe the spectrum of pediatric ovarian pathology, identifying the clinical features and ultrasound characteristics that help in decisions about patient management, and to correlate these with ovarian pathology. PATIENTS AND METHODS: Retrospective analysis of 134 records of patients admitted with ovarian lesions to Royal Children's Hospital, Melbourne over an 11-year period (1989-99 inclusive). RESULTS: The age of presentation varied widely from 2 days to 19 years with 63.4% being over 12 years of age. Eighty-one patients (60.4%) had physiological or functional ovarian cysts, 52 of which required surgical intervention. Forty-four patients (32.8%) had neoplastic lesions and a palpable abdominal mass was felt in 53.7% of them. Mature cystic teratoma or dermoid cyst, seen in 27 patients, was the commonest neoplasm, and 77.8% of these children were under 12 years. Six children had malignant ovarian neoplasms, of which five were germ cell in origin. Five patients had epithelial or stromal neoplastic lesions. Endocrine manifestations were seen in seven patients and included early or precocious puberty and virilization. Plain trans-abdominal ultrasonography was useful in identifying ovarian lesions in 94 (81.7%) of the 115 patients in whom it was performed, but was not helpful in determining the nature of the lesion. Neoplastic ovarian lesions were commonly greater than 10 cm in diameter CONCLUSIONS: Physiological or functional ovarian cysts are the most common ovarian lesions seen in the pediatric age group and malignant neoplasms are rare. A palpable abdominal mass or ovarian lesion >10 cm was significantly associated with the lesion being neoplastic. Lesions <5 cm in post-pubertal girls were significantly more likely to be non-neoplastic. Ultrasonography is useful in localizing ovarian lesions but is not helpful in determining their pathological nature. Endocrine manifestations sometimes occur with either benign or malignant lesions of the ovary.
Adolescent↗
The epidemiology of childhood cardiomyopathy in Australia.
BACKGROUND: The incidence and age distribution of primary cardiomyopathy in children are not well defined. We undertook a population-based, retrospective cohort study in Australia to document the epidemiology of childhood cardiomyopathy. METHODS: We analyzed all cases of primary cardiomyopathy in children who presented between 1987 and 1996 and who were younger than 10 years of age. Children were recruited from multiple sources, and cases of cardiomyopathy were classified according to World Health Organization guidelines. RESULTS: Over the 10-year period, 314 new cases of primary cardiomyopathy were identified, for an annual incidence of 1.24 per 100,000 children younger than 10 years of age (95 percent confidence interval, 1.11 to 1.38). Dilated cardiomyopathy made up 58.6 percent of cases, hypertrophic cardiomyopathy 25.5 percent, restrictive cardiomyopathy 2.5 percent, and left ventricular noncompaction 9.2 percent of cases. The incidence of all types of cardiomyopathy except restrictive declined rapidly after infancy. In 11 cases (3.5 percent), sudden death was the first symptom. There was a male predominance among children with hypertrophic and unclassified cardiomyopathy. Indigenous children had a higher incidence of dilated cardiomyopathy than nonindigenous children (relative risk, 2.67; 95 percent confidence interval, 1.42 to 4.63) and a higher rate of death as the presenting symptom (16.7 percent vs. 2.6 percent, P=0.02). Lymphocytic myocarditis was present in 25 of 62 children with dilated cardiomyopathy (40.3 percent) who underwent cardiac histologic examination within two months after presentation. CONCLUSIONS: Lymphocytic myocarditis and left ventricular noncompaction are important causes of childhood cardiomyopathy in Australia. The timing and severity of presentation in children with cardiomyopathy are related to the type of cardiomyopathy, as well as to genetic and ethnic factors.
Age Distribution↗
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
Respiratory chain complex I deficiency is a common cause of Leigh's disease (LD) and can be caused by mutations in genes encoded by either nuclear or mitochondrial DNA (mtDNA). Most pathogenic mtDNA mutations act recessively and only cause disease when present at high mutant loads (typically >90%) in tissues such as muscle and brain. Two mitochondrial DNA mutations in complex I subunit genes, G14459A in ND6, and T12706C in ND5, have been associated with complex I deficiency and LD. We report another ND5 mutation, G13513A, in three unrelated patients with complex I deficiency and LD. The G13513A mutation was present at mutant loads of approximately 50% or less in all tissues tested, including multiple brain regions. The threshold mutant load for causing a complex I defect in cultured cells was approximately 30%. Blue Native polyacrylamide gel electrophoresis showed that fibroblasts with 45% G13513A mutant load had approximately 50% of the normal amount of fully assembled complex I. Fibroblasts with greater than 97% of the ND6 G14459A mutation had only 20% fully assembled complex I, suggesting that both mutations disrupt complex I assembly or turnover. We conclude that the G13513A mutation causes a complex I defect when present at unusually low mutant load and may act dominantly.
Adult↗
Cholinergic transmission to colonic circular muscle of children with slow-transit constipation is unimpaired, but transmission via NK2 receptors is lacking.
Tachykinins (TKs) colocalize with acetylcholine in excitatory motor neurones supplying human colonic circular muscle (CCM). Some children with slow-transit constipation (STC) have reduced TK-immunoreactivity in nerve terminals in CCM suggesting a deficit in neuromuscular transmission. This study aimed to test this possibility. Seromuscular biopsies of transverse colon were obtained laparoscopically from STC children (37, 17 with low density of TK-immunoreactivity). Specimens of transverse (17) and sigmoid colon (20) were obtained from adults undergoing colonic resection for cancer. CCM contractions were measured isotonically and responses to carbachol, neurokinin A (NKA) and electrical field stimulation (EFS) recorded. Carbachol and NKA-evoked contractions in adult and STC colon. Hyoscine (2 micromol L-1) significantly depressed responses to EFS in all preparations. Blockade of NK2 receptors (SR 48968, 2 micromol L-1) significantly depressed EFS-evoked contractions of adult transverse CCM, but had no effect on STC preparations. Thus, neuromuscular transmission in both adults and STC children is predominantly cholinergic and this component is unimpaired in the latter, indicating that reduced TK-immunoreactivity is not a marker for depressed cholinergic responses. Although pharmacologically responsive TK receptors are present in STC colon, we did not detect neuromuscular transmission mediated by release of TKs in these preparations.
Adolescent↗
Heterotopic pancreas without exocrine elements in the Meckel's diverticulum of an insulin-dependant diabetic.
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Adolescent↗
Diagnostic criteria for respiratory chain disorders in adults and children.
BACKGROUND: Respiratory chain (RC) disorders are clinically, biochemically, and molecularly heterogeneous. The lack of standardized diagnostic criteria poses difficulties in evaluating diagnostic methodologies. OBJECTIVE: To assess proposed adult RC diagnostic criteria that classify patients into "definite," "probable," or "possible" categories. METHODS: The authors applied the adult RC diagnostic criteria retrospectively to 146 consecutive children referred for investigation of a suspected RC disorder. Data were collected from hospital, genetics, and laboratory records, and the diagnoses predicted by the adult criteria were compared with the previously assigned assessments. RESULTS: The authors identified three major difficulties in applying the adult criteria:lack of pediatric-specific criteria; difficulty in segregating continuous data into circumscribed major and minor criteria; and lack of additivity of clinical features or enzyme tests. They therefore modified the adult criteria to allow for pediatric clinical and histologic features and for more sensitive coding of RC enzyme and functional studies. Reanalysis of the patients' data resulted in congruence between the diagnostic certainty previously assigned by the authors' center and that defined by the new general RC diagnostic criteria in 99% of patients. CONCLUSIONS: These general diagnostic criteria appear to improve the sensitivity of the adult criteria. They need further assessment in prospective clinical and epidemiologic studies.
Adult↗
Multiple cavitating pulmonary nodules and clubbing in a 12-year-old girl.
We report on a 12-year-old girl with a prolonged history of cough and hemoptysis on three occasions. X-ray and computed tomography of the chest showed several cavitating lesions and mediastinal lymphadenopathy. Lung biopsy revealed nodular sclerosing Hodgkin's disease. Hodgkin's disease should be considered in the differential diagnosis of cavitating pulmonary lesions.
Child↗