Familial hydronephrosis

Seven publications on familial hydronephrosis apparently due to uretero-pelvic junction stricture have been collected from the literature. an eighth family with this defect is reported in this paper; it involves a mother and at least two of her sons. The following conclusions can be drawn from these cases: The defect is most probably due to a mutant dominant gene, bilateral or unilateral involvement representing variable expressivity of this gene. The uretero-pelvic junction stenosis in the familial cases is more probably due to an intrinsic defect at the junction than to an extrinsic defect such as fibrous bands or aberrant vessels.Supported, in part, by NIH Grants GM 15422 and 5 KO4 HD 18982 (Career Development Award), and by a Grant from the National Foundation-March of Dimes     

COMBINATION OF ATRIAL SEPTAL DEFECT AND VENTRICULAR SEPTAL DEFECT

When the patient had a combination of atrial and ventricular septal defect, or atrial septal defect and Roger's disease, the sound changes caused by the atrial septal defect were covered by those produced by the ventricular septal defect or Roger's disease. Consequently, it was impossible to diagnose atrial septal defect in these cases by intracardiac phonocardiography.
On the other hand, intracardiac phonocardiography is an excellent complementary method of demonstrating ventricular septal defect or Roger's disease associated with atrial septal defect which have been verified by ordinary catheterization or, alternatively, for excluding a suspected additional ventricular septal defect or Roger's disease.     

Increased prevalence of ventricular septal defect: epidemic or improved diagnosis

The Baltimore-Washington Infant Study is an ongoing case-control study of congenital cardiovascular malformations in infants in whom the clinical diagnoses have been confirmed by echocardiography, catheterization, surgery, or autopsy. An increase in the prevalence of ventricular septal defects was detected in 1,494 infants with congenital cardiovascular malformations between 1981 and 1984. The prevalence of congenital cardiovascular malformations increased from 3.6 to 4.5 per 1,000 live births (P less than .025) and the prevalence of ventricular septal defect increased from 1.0 to 1.6 per 1,000 live births (P less than .001). The increase in ventricular septal defects accounted for the total increase in congenital cardiovascular malformations. The prevalence of isolated ventricular septal defect increased from 0.67 to 1.17 per 1,000 live births (P less than .001). The prevalence of ventricular septal defect with associated coarctation of the aorta, patent ductus arteriosus, atrial septal defect, and pulmonic stenosis did not change. The prevalence of ventricular septal defect diagnosed by catheterization, surgery, and autopsy did not change; however, defects diagnosed by echocardiography increased from 0.30 to 0.70 per 1,000 live births (P less than .001). It is concluded that the reported increase in prevalence of ventricular septal defect is due to improved detection of small, isolated ventricular septal defects and that there is no evidence of an "epidemic."     

Post-Obstructive Urinary Concentrating Defect A Case Study in the Role of Prostaglandins

ABSTRACT. A child with post-obstructive urinary concentrating defect was studied for the possible pathophysiological role of prostaglandins and an eventual therapeutic approach. Increased urinary excretion of prostaglandins was corrected by indomethacin, with resultant increased nephrogenous cyclic AMP and partial improvement in the concentrating defect. The addition of a thiazide restored urinary concentration. These results add clinical support to the conception of the important role of prostaglandins in the mechanism of post-obstructive hyposthenuria. This therapeutic regimen is advocated for prolonged post-obstructive concentrating defect.     

Cobalamin C defect presenting as severe neonatal hyperammonemia

Cobalamin C (Cbl-C) defect is the most common inborn error of cobalamin metabolism which causes a block in the pathway responsible for the synthesis of its two metabolically active forms methyl- and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. The clinical presentation of patients with early-onset Cbl-C defect, characterized by a multisystem disease with severe neurological, ocular, hematological, renal, gastrointestinal, cardiac, and pulmonary manifestations, differs considerably from what observed in the “classical” form of methylmalonic aciduria caused by defect of methylmalonyl-CoA mutase. This last condition is in most cases dominated in the neonatal period by a metabolic encephalopathy “intoxication type” with severe hyperammonemia and ketoacidosis. We report a Cbl-C defect patient presenting a neonatal encephalopathy with severe hyperammonemia and ketoacidosis who was successfully treated with peritoneal dialysis. Conclusion: To the best of our knowledge, there are no reported cases of Cbl-C defect showing an acute presentation resembling a classical methylmalonic aciduria. This observation enlarges the spectrum of inherited diseases to be considered in the differential diagnosis of neonatal hyperammonemia.     

Post-obstructive urinary concentrating defect. A case study in the role of prostaglandins

A child with post-obstructive urinary concentrating defect was studied for the possible pathophysiological role of prostaglandins and an eventual therapeutic approach. Increased urinary excretion of prostaglandins was corrected by indomethacin, with resultant increased nephrogenous cyclic AMP and partial improvement in the concentrating defect. The addition of a thiazide restored urinary concentration. These results add clinical support to the conception of the important role of prostaglandins in the mechanism of post-obstructive hyposthenuria. This therapeutic regimen is advocated for prolonged post-obstructive concentrating defect.     

Peripheral vein contrast echocardiography in atrial septal defect

This study was carried out on 233 children suspected clinically of having atrial septal defect with the aim of investigating the diagnostic capability of peripheral venous contrast echocardiography. The transfer of contrast material from the right atrium into the left atrium was evaluated as "positive contrast", while noncontrast blood, passing from the left atrium into the right atrium was termed "negative contrast". Positive contrasts were quantitated in four grades. A significant negative contrast effect was graded 3- or 4-. Three positive, 4+ and/or 3-, 4- contrast effects were considered definite evidence of an atrial septal defect. Among the cases with the above findings 92 underwent surgical closure of atrial septal defect. The procedure was successful in all patients operated; the size of the defect was large. This result demonstrates that the method applied is a safe and reliable one. However, in a group of cases without the above echocardiographic findings the presence of an atrial septal defect was detected by cardiac catheterization and angiocardiography. Therefore, we can conclude that the method applied is not a sensitive, but a specific one, for definite detection of atrial septal defect.     

The dorsal defect of the patella

The dorsal defect of the patella is described and 16 cases are presented. The typical dorsal patellar defect is a round, radiolucent lesion surrounded by a zone of sclerosis located on the superolateral aspect of the dorsal surface of the patella. The location, radiographic appearance and clinical course of the defect are unique, distinguishing it from other lesions of the patella. The authors suggest that the dorsal defect is an anomaly of ossification and of little clinical significance.     

THE SYNDROME OF RENAL TUBULAR ACIDOSIS WITH NERVE DEAFNESS

Abstract. Two brothers with renal tubular acidosis and nerve deafness are described. Studies of the physiopathological characteristics of the renal acidification defect show that the defect is limited to the distal tubule. Renal tubular acidosis with nerve deafness is a distinct nosologie entity that is determined by an autosomal recessive trait.     

The syndrome of renal tubular acidosis with nerve deafness.

Two brothers with renal tubular acidosis and nerve deafness are described. Studies of the physiopathological characteristics of the renal acidification defect show that the defect is limited to the distal tubule. Renal tubular acidosis with nerve deafness is a distinct nosologic entity that is determined by an autosomal recessive trait.     

应用猪小肠黏膜下层进行兔尿道缺损修补的研究

目的 探讨应用异种猪小肠黏膜下层无细胞基质补片进行尿道缺损修复的可行性方法.方法 小肠黏膜下层无细胞基质(SIS)取自健康处死的猪,经过组织学处理,并经HE及Masson's染色分析后,用于兔尿道缺损的修复治疗.12只成年雄性新西兰白兔建立尿道部分缺损模型;分2组各6只,一组应用SIS进行修复治疗,另一组单纯缝合作对照;术后4和12周各组分别处死3只,对再生的尿道组织行组织学和免疫组化检测;术后12周行逆行尿道造影用于评价尿道的开放功能.结果 治疗组术后4周可见尿路上皮自吻合口两侧迁入并完全覆盖尿道内腔,基质中可见少量新生血管和平滑肌细胞,基质和吻合口部位可有少量炎性细胞浸润;术后12周.再生组织与尿道形态几乎无异,尿道造影显示无明显尿道狭窄.而对照组均出现尿道狭窄.结论 猪小肠黏膜下层对于兔尿道损伤的修复是一种有用的材料,该基质制作简单,在尿道的结构和功能重建方面具有良好的特性.     

Transcatheter Closure of Acquired Left Ventricle-to-Right Atrium Shunt: First Case Report in an Infant and Review of the Literature

Gerbode defect, a left ventricle to right atrium (LV-RA) communication, is usually congenital. Acquired LV-RA communications are rare and only few case reports of successful trans-catheter closure have been published though none of them were on infants. We hereby report a rare case of LV to RA shunt acquired following surgical repair of Tetralogy of Fallot (TOF). The defect was successfully closed percutaneously with an Amplatzer duct occluder. This is the first reported case of device closure of an acquired Gerbode defect in an infant.     

Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses With Heart Defects Detected by Prenatal Echocardiography

Congenital heart disease (CHD) is the most common birth defect and the leading cause of mortality in the first year of life. In fetuses with a heart defect, chromosomal abnormalities are very frequent. Besides aneuploidy, 22q11.2 deletion is one of the most recognizable chromosomal abnormalities causing CHD. The frequency of this abnormality varies in nonselected populations. This study aimed to investigate the incidence of the 22q11.2 deletion and other chromosomal alterations in a Brazilian sample of fetuses with structural cardiac anomalies detected by fetal echocardiography. In a prospective study, 68 fetuses with a heart defect were evaluated. Prenatal detection of cardiac abnormalities led to identification of aneuploidy or structural chromosomal anomaly in 35.3% of these cases. None of the fetuses with apparently normal karyotypes had a 22q11.2 deletion. The heart defects most frequently associated with chromosomal abnormalities were atrioventricular septal defect (AVSD), ventricular septal defect (VSD), and tetralogy of Fallot. Autosomal trisomies 18 and 21 were the most common chromosomal abnormalities. The study results support the strong association of chromosome alterations and cardiac malformation, especially in AVSD and VSD, for which a chromosome investigation is indicated. In fetuses with an isolated conotruncal cardiopathy, fluorescence in situ hybridization (FISH) to investigate a 22q11.2 deletion is not indicated.     

Unusual ``Midseptal' Sinus Venosus Defect

An unusual case of an interatrial communication similar to a sinus venosus defect associated with an overriding pulmonary venous chamber is reported. There was no direct connection of the pulmonary venous system with either the superior vena cava or the low right atrium, as is usual with sinus venosus defects. This defect may represent the result of a sinus venosus defect associated with cor triatriatum.     

Aplasia cutis congenita in a newborn: etiopathogenic review and diagnostic approach

Aplasia cutis congenita is a rare condition characterized by the congenital absence of epidermis, dermis and, in some cases, subcutaneous tissues. It was first described by Cordon in 1767 and more than 500 cases have been reported since, with an estimate incidence of 3 in 10,000 births. The lesions may occur on any body surface although localised agenesis of the scalp is the most frequent pattern. In approximately 20% of cases underlying bone defects are also found. Aplasia cutis congenita occurs as an isolated defect or with other associated anomalies. There is no unifying theory for the pathogenesis and large scalp defects present a management dilemma. We report a newborn with a large scalp defect in the midline at the vertex without associated malformations. There was no significant family history. Skull and extremities radiographs, chromosome analysis, cerebral and abdominal sonography were normal. Two methods of treatment were used: a conservative approach consisting of daily antiseptic dressing to allow scalp epithelialization improved conditions for secondary surgery at 30 days of life, closing the defect with local rotational flaps. The postoperative course was uneventful and an excellent cosmetic result was achieved.     

Defective opsonization. A common immunity deficiency

Serum opsonization of yeasts for phagocytosis by normal polymorphonuclear leucocytes was defective in 11 of 43 children with unexplained frequent infections. The children had a range of infections, largely bacterial, and only 3 had diarrhoea and rash in infancy. A similar defect in at least 6 of the 9 mothers of these children (of either sex), with normal function in the fathers, suggests that the defect was primary and was transmitted by an unusual form of dominant inheritance. Four of 72 healthy adults and 1 of 11 children with unrelated disease showed similar defective function, but the incidence of the defect in the patients with frequent infection was significantly greater than this. The defective function can be corrected, in vitro and in vivo, by normal plasma at concentrations too low to be effective alone. This suggests that there is a defective factor rather than an inhibitor, and that different factors are limiting in normal and in defective plasma. Sera from affected members of the same family do not correct each other, but defective sera from different families usually do.     

Anhidrosis. Presentation of an unusual case report]

A one month old girl with sudden attacks of fever and dehydration was found to have anhydrosis. Histologically the sweat glands were normal but the electrical resistance of the skin showed there was an abnormality of sweating. The cause of the disorder is unknown but could be due to a defect in the secretion of acetyl choline by the post ganglionic sympathetic nerves or due to a receptor defect in the sweat gland. This new syndrome should be considered in all infants with a high fever of unknown origin.     

Defective opsonization. A common immunity deficiency.

Serum opsonization of yeasts for phagocytosis by normal polymorphonuclear leucocytes was defective in 11 of 43 children with unexplained frequent infections. The children had a range of infections, largely bacterial, and only 3 had diarrhoea and rash in infancy. A similar defect in at least 6 of the 9 mothers of these children (of either sex), with normal function in the fathers, suggests that the defect was primary and was transmitted by an unusual form of dominant inheritance. Four of 72 healthy adults and 1 of 11 children with unrelated disease showed similar defective function, but the incidence of the defect in the patients with frequent infection was significantly greater than this. The defective function can be corrected, in vitro and in vivo, by normal plasma at concentrations too low to be effective alone. This suggests that there is a defective factor rather than an inhibitor, and that different factors are limiting in normal and in defective plasma. Sera from affected members of the same family do not correct each other, but defective sera from different families usually do.     

Membranous septal aneurysm: an unusual cause for right ventricular outflow tract obstruction in a malaligned ventricular septal defect with aortomitral discontinuity (double-outlet right ventricle) associated with visceral heterotaxy

The development of a septal aneurysm in the natural history of membranous ventricular septal defects usually makes the defect hemodynamically less significant. This report describes a case of severe right ventricular outflow obstruction produced by a membranous septal aneurysm in a patient who had an anterior malaligned ventricular septal defect with aortomitral discontinuity (double-outlet right ventricle). This patient did not have pulmonary stenosis other than the dynamic obstruction produced by the septal aneurysm. In this patient, the septal aneurysm produced both favorable and unfavorable hemodynamic effects. A reduction in the size of the ventricular septal defect produced a favorable effect, whereas a right ventricular outflow obstruction led to the unfavorable situation of right ventricular hypertension and hypertrophy. The large septal aneurysm in the presence of an already compromised right ventricular outflow tract related to an anteriorly malaligned septum resulted in severe obstruction.     

Noninvasive diagnosis in the evaluation of shunt size in children with atrial septal defect--an evaluation scheme

A cumulative score of five non-invasive diagnostic procedures is used to predict the size of the shunt in atrial septal defect (type II) in children. Each of those diagnostic managements being represented by zero, plus one, or two points: a higher score value refers to a more significant shunt volume. Summing up the points you will find 10 to 7 in an atrial septal defect that is worth being operated. In 6 and 5 points the prediction is unsure by scoring. Values of 4 or less points indicate a septal defect with no significant shunting. The validity of this scoring system has been tested in 35 children each examined by heart catheterization.