Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings.
Explore the source record for details and available documents.
Abnormalities, Multiple↗
Biomedical subjects
J D Tsai
Publications and source records attributed to J D Tsai.
Galloway-Mowat syndrome: a glomerular basement membrane disorder?
We report a female infant with Galloway-Mowat syndrome. In addition to the characteristic dysmorphic appearance, neurological anomalies and early-onset nephrotic syndrome, she had arachnodactyly, an observation thus far reported uniquely in Taiwan. Also, her elder sister had the same condition. Renal pathology on light microscopy showed cystic dilatation of the renal tubules. Electron microscopy showed an irregular glomerular basement membrane and effacement of foot processes. This observation suggests that malformation of the glomerular basement membrane may cause the glomerulopathy in Galloway-Mowat syndrome.
Basement Membrane↗
Tubulointerstitial nephritis associated with a novel mitochondrial point mutation.
BACKGROUND: Nephropathy caused by mitochondrial disorders is a relatively newly recognized disease. Only a few cases have been reported in the literature, and most of them are proximal tubulopathy-presenting Fanconi syndrome. Here we report on a novel mutation in two familial cases of tubulointerstitial nephropathy associated with concentrating defect. METHODS: Renal biopsy specimens were examined by light microscopy and electron microscopy. Mitochondrial genomic DNA isolated from renal biopsy specimens was amplified by polymerase chain reaction (PCR) and sequenced in its entirety. The DNA sequences were analyzed by (1) comparing with the Anderson et al's mitochondrial sequences; (2) comparing with DNA sequences obtained from 97 human controls, including both healthy individuals and patients with renal diseases; and (3) comparing with the counterparts in 90 different species. RESULTS: Dismorphic mitochondria with occasional intramitochondrial inclusions were found in the renal tubular epithelial cells. A novel mitochondrial point mutation was identified at the position 608, that is, the distal end of the anticodon stem of the tRNA(Phe) molecule. The A to G substitution at this position was not observed in 97 human controls and was found to be highly conserved in evolution. CONCLUSIONS: We have identified an A608G mutation of mitochondrial genome in two cases whose presentation include tubulointerstitial nephritis and stroke.
Animals↗
Asymptomatic vesicoureteral reflux detected by neonatal ultrasonographic screening.
Renal ultrasonography was performed in 2,384 healthy and asymptomatic neonates. The definition and grading of hydronephrosis was according to the system of the Society for Fetal Urology. Voiding cystourethrography was performed in the cases with moderate to severe hydronephrosis or persistent mild hydronephrosis. In cases with vesicoureteral reflux (VUR), a dimercaptosuccinic acid (DMSA) renal scan was arranged immediately to evaluate the renal parenchyma. VUR was diagnosed in 30 infants with a prevalence of 1.26%; 7 had bilateral VUR. The male/female ratio was 4:1 and the right/left ratio was 1.85:1. Comparing with the abnormal ultrasonographic findings, VUR appeared ipsilaterally in 23 ureters and contralaterally in 14 ureters. Using ultrasonography for diagnosing VUR, the sensitivity, specificity, positive predictive value, and negative predictive value were 62.2%, 36.1%, 11.0%, and 88.2%, respectively. DMSA renal scan was performed in 31 refluxing kidneys, and congenital renal scarring was found in 9 (29.0%) kidneys. Six neonates underwent reimplantation surgery. We conclude that although ultrasonography is not a reliable tool for diagnosing VUR, it can detect many cases of VUR during the newborn stage using our screening program, which thus makes early treatment from the neonatal period possible. Whether our screening program can improve the outcome of VUR will require further follow-up.
Female↗
Diving pattern of fishermen in the Pescadores.
Professional diving fishermen in the Pescadores Archipelago (119.30 degrees W, 23.30 degrees N) dive with a simple hookah system. Although they use modern equipment, such as wet suit, face mask, mouth piece with demand valve, spear gun, weight belt, and fins, their lack of knowledge of diving medicine is apparent. On the average, 180 cases of decompression sickness (DCS) per year were reported to occur in the Pescadores. We conducted studies in 1990 and 1992 on three islands of the Archipelago. At the time of our study, an estimated 140 diving fishermen resided on these three islands. Of the 62 fishermen interviewed, 14 volunteered for the recording of dive profiles using a diver-carried data logger. In the summer of 1990, a group of eight fishermen dived, on the average, to a depth of 17.8 +/- 5.3 m (mean +/- SD; range, 8-27 m) for 26.9 +/- 19.7 min (5-66 min). Although the diving depth was similar to that of the average recollections of 43 divers, 20.1 +/- 4.4 m (15-30 m), the actual diving time was far shorter than that of their recollections, 426 +/- 138 min (240-630 min). The post-typhoon sea floor conditions may have shortened their diving time. In the summer of 1992, a group of six fishermen dived to 20.5 +/- 3.8 m (15-26 m) for 56.4 +/- 21.2 min (18-84 min). Again, the diving depth matched that of their recollection well, 22.2 +/- 2.5 m (20-26 m), but their bottom time was far shorter than they believed, 270 +/- 108 min (120-480 min). They used no decompression procedures, regardless of the bottom time and diving depth. In the 1990 group, 5 out of 10 equivalent single dive bottom times (ESDBT) exceeded U.S. Navy no-decompression (No-D) air dive limits; whereas in the 1992 group, 7 out of 9 ESDBTs exceeded No-D limits. Eight of the 38 discrete dives exceeded the No-D limits, even if we underestimate their decompression stress by disregarding their repetitive dive history. However, no symptoms of DCS were observed in either the 1990 or 1992 groups of 14 divers, despite 63% of the ESDBTs and 21% of discrete dives having exceeded the No-D limits. Adaptation to diving work may have allowed them to exceed the established No-D limits. The existing records of incidence of DCS from this region suggest that previously they must have dived longer or deeper or both during times of abundant resources.
Adult↗
Spectral analysis of bubble sounds in decompressed guinea pigs.
Doppler ultrasonic monitoring was used to detect bubbles in sixteen guinea pigs subjected to a simulated air-dive profile of 9 ATA for 25 minutes. After completion of the decompression, eight subjects did not demonstrate any signs of decompression sickness (DCS), two developed paraplegia and six died. Under sedation, the Doppler ultrasonic bubble detector was placed precordially to record the bubble signals in both pre-dive and post-dive. The recorded signals were analyzed with a high resolution signal analyzer to compare changes between pre-dive and post-dive spectrograms. Bubble signals appeared in the frequency range between 0.64 +/- 0.02 KHz and 6.08 +/- 0.30 KHz. In terms of the net spectral level versus frequency areas (difference between pre-dive and post-dive spectrograms), the mean areas in the paraplegia group and the death group were significantly larger than those in the group without DCS. Therefore, we concluded that the spectral analysis may be an objective and quantitative adjunctive method to the interpretation of Doppler bubble signals.
Animals↗
[Simultaneous cholecystectomy with colon surgery].
Both colorectal pathology and cholecystopathy are common disorders, especially among the elderly. Postoperative cholecystitis was well known to be associated with high morbidity and mortality. The presence of gall bladder pathology has also been reported to precipitate acute cholecystitis. In addition, these patients with gall bladder pathology may eventually need a cholecystectomy because of complications. In the above cases, some authors have suggested a simultaneous cholecystectomy at the time of colon surgery. In past 4 years, a series of 28 cases with concomitant cholecystectomy and colectomy were reviewed. The male to female ratio was 11:17, and their age ranged from 41 to 83 years old (mean age 61). The main colonic pathology was adenocarcinoma of colon and rectum (26/28). All gall bladder pathologies were diagnosed preoperatively by abdominal ultrasound, and gall stones were present in 25 of 28 cases. There were no intraoperative complications and no operative mortalities. Our data suggested that a cholecystectomy can be performed safely at the time of colon surgery, if the patient's condition is stable and contamination from colon surgery is minimal.
Adult↗
Perinatal findings in a male fetus with congenital megacystis and anorectal malformations.
We report the perinatal findings in a male fetus with congenital megacystis and anorectal malformations. A 17-year-old primipara was referred to our department at 13 weeks of gestation for management of a 4.6 x 3.8 cm massive intra-abdominal fetal mass consistent with megacystis. The fetal thorax was severely compressed. We used a 22-gauge needle to perform intrauterine fetal vesicocentesis, removing 30 ml of fetal urine, decreasing the fetal bladder diameter/crown-rump length ratio from 65.7 to 17%. Cytogenetic analysis revealed a 46, XY karyotype. Intermittent bladder aspiration was performed weekly from 13 to 20 weeks of gestation and every 2-3 weeks from 21 to 35 weeks of gestation for the purpose of decompression. Mild dilation of both renal pelves was noted beginning at 20 weeks of gestation, however, neither progression of hydronephrosis nor development of oligohydramnios was noted. At 36 weeks of gestation, a live male neonate was delivered with a normal phallus, duodenal atresia, mild congenital heart defects, a distended bladder, bilateral hydronephrosis, megaureters, imperforate anus with rectovesical fistula, cryptorchidism and bilateral vesicoureteric reflux. The postnatal renal function was normal. He underwent serial operations including colostomy, anoplasty with repair of rectovesical fistula, duodeno-duodenostomy, bilateral re-implantation of ureters, orchiopexy and reduction cystoplasty. At 20 months of age, the child had normal renal function. The intravenous pyelogram showed normal functional kidneys, moderate megaureters and moderate megacystis. He underwent clean intermittent catheterization for residual urine. The recurrent urinary tract infections were under control.
Adolescent↗
Tuberous sclerosis with visceral organ involvement.
This study is to determine the incidence of visceral organ involvement in tuberous sclerosis (TS). We reviewed 30 cases of TS diagnosed between 1987 to 1997. There were 17 males and 13 females, ages ranged from one day old to 17 years old. Among the 30 cases, 25 patients had seizures and skin manifestations; 24 had cerebral tubercles; 10 had heart involvement (9 rhabdomyoma, 1 dilated cardiomyopathy); 4 had kidney involvement (3 polycystic kidney disease, 1 renal hamartoma); and 3 had retinal astrocytic hamartoma. Based on our study, the most common visceral organs involved were the heart and kidney. Among the ten patients with cardiac rhabdomyoma, six were less than 1 year old (mean age 1.6 +/- 2.2 years old). One newborn presented with a cardiac mass diagnosed by prenatal sonography and another newborn, noted to have tachycardia after birth, underwent surgical intervention due to impending heart failure. Four patients had kidney abnormalities; three were less than 5 years old (mean age 5.2 +/- 5.2 years). During this 10 year period, there was no mortality seen among patients with visceral organ involvement. We suggest that clinicians treating patients with TS should not overlook the visceral organs, especially heart and kidney, which, if involved can have significant morbidity.
Adolescent↗
Juvenile nephronophthisis-medullary cystic disease complex: a family study.
Two sisters, eight and six years old, respectively, were admitted to Mackay Memorial Hospital in 1993 with the chief complaints of growth retardation, polyuria and nocturnal enuresis. Poor urinary concentration, sodium wasting, anemia and renal insufficiency were noted during hospitalization. Ultrasonography revealed increased renal echogenicity, loss of corticomedullary differentiation and multiple tiny corticomedullary cysts in both kidneys. Renal histopathology showed mild increase in glomerular mesangial cellularity and matrix, mild focal tubular atrophy with thickening of the tubular basement membrane. Other family members were screened by ultrasonography and found another six patients in two generations of the paternal side. Renal cysts were found in five cases. Three of them had progressively deteriorating renal failure. Five had stable renal function after three years of supportive treatment. Thus, it was concluded that the age of onset does not differentiate medullary cystic disease (MCD) from juvenile nephonophthisis (JN), and that JN and MCD could be considered a clinical complex. The absence of corticomedullary cysts on ultrasonography does not preclude the diagnosis. It is also suggested that any children with clinical symptoms of polyuria, polydipsia, anemia and growth retardation from their early years should be carefully examined, and the family history should be investigated to permit early detection of the disease.
Adult↗
The role of percutaneous renal biopsy in the diagnosis and management of renal diseases in children.
We undertook a retrospective study to determine the proportion of patients in whom diagnostic and therapeutic changes were made as a result of renal biopsy. From April 1992 to March 1997, 111 renal biopsies were performed on 109 children aged 11 months to 18 years at our hospital. Adequate renal tissue was obtained in 106 cases (95.3%). Gross hematuria was observed in 12 cases (10.8%). Perirenal hematoma was found in 8 cases (7.2%) by ultrasound. A scoring system was designed to assess if diagnosis and therapy are affected as a result of renal biopsy. For diagnosis, the score was 0 when no additional information was obtained; 1 when the diagnosis was confirmed or ruled out; and 2 when the diagnosis was changed after biopsy or the pathologic findings provided a definite prognosis. For therapy, the score was 0 when the management was not changed after biopsy; 1 when the clinical diagnosis was confirmed and yielded a change in management; and 2 when the diagnosis and management were changed after biopsy. We found the benefit score for diagnosis was 0 in 2 (1.9%) of the 106 biopsied cases; 1 in 78 (73.6%), and 2 in 26 (24.5%). The benefit score for therapy was 0 in 62 (58.5%); 1 in 24 (22.6%); and 2 in 20 (18.9%). Therapeutic change always occurred in the biopsied patients with steroid resistant nephrotic syndrome and systemic diseases with renal involvement, and occasionally occurred in frequent relapsing nephrotic syndrome, steroid dependent nephrotic syndrome and asymptomatic proteinuria plus hematuria. It never occurred in patients with acute or chronic renal failure and hematuria. We conclude that renal biopsy is a safe and efficient procedure in pediatric patients. It can markedly change diagnosis and therapy, and can increase the likelihood for a more rational management of children with renal disease.
Adolescent↗