OFF-LABEL USE OF GRANULOCYTE COLONY-STIMULATING FACTOR IN NONCONGENITAL NEUTROPENIA: Retrospective Data from the Italian Neutropenia Registry

This paper reviews a series of 70 consecutive children with rhabdomyosarcoma (RMS) diagnosed during 1971-1978 and treated in five Italian institutions. Thirteen were classified as group I, 12 as group II, 37 as group III, and 8 as group IV according to the Intergroup RMS Study staging system. Survival was influenced by tumor extension at diagnosis, primary site, and response to therapy. The 5-year-survival rate was 92% for group I patients, 67% for group II, 44% for group HI, and 0% for group IV. Thirty-four children had all therapy stopped after 12-32 months of complete remission, 7 had late recurrences, and 3 died from disease. Musculoskeletal sequelae were diagnosed in 11 children, short stature in 3, corneal opacity in 2, and cardiac failure in 1.     

Long-Term Results in Childhood Rhabdomyosarcoma: A Retrospective Study in Italy

This paper reviews a series of 70 consecutive children with rhabdomyosarcoma (RMS) diagnosed during 1971-1978 and treated in five Italian institutions. Thirteen were classified as group I, 12 as group II, 37 as group III, and 8 as group IV according to the Intergroup RMS Study staging system. Survival was influenced by tumor extension at diagnosis, primary site, and response to therapy. The 5-year-survival rate was 92% for group I patients, 67% for group II, 44% for group HI, and 0% for group IV. Thirty-four children had all therapy stopped after 12-32 months of complete remission, 7 had late recurrences, and 3 died from disease. Musculoskeletal sequelae were diagnosed in 11 children, short stature in 3, corneal opacity in 2, and cardiac failure in 1.     

Novel Procedure for Treatment of Aortic Obstruction Caused by Amplatzer Occluder of Patent Ductus Arteriosus

An 18-month-old boy with patent ductus arteriosus and pulmonary hypertension is reported, in whom deployment of the Amplatzer ductal occluder caused significant aortic obstruction, requiring the inflation of an intraortic balloon against the aortic retention disk of the device as a new procedure to treat such an obstruction. This case emphasizes the need for careful hemodynamic and angiographic assessment of the position of the Amplatzer ductal occluder before and after detaching the device from its delivery system, with particular emphasis on the aortic retention ring and the possibility of interventional management of this complication.     

Classification,identification, and assessment of surgical treatment of anorectal anomalies

In order to keep pace with new work in the field of anorectal anomalies, pediatric surgeons who had contributed recent publications on new aspects were invited to a workshop meeting, the objects of which included reviews of: (1) current classifications of anorectal anomalies; (2) criteria for assessment of results of treatment; and (3) methods of recording clinical features, diagnosis, and surgical procedures. The overall objective was standardization of terms and diagnostic features in order to facilitate intercommunication and comparison between surgeons engaged in the reconstruction of anorectogenital anomalies.     

Planimetrische Me\methode an Röntgenbildern kindlicher Hirnschädel mit Normwerten für das Kindesalter

Zusammenfassung Begründung und technische Beschreibung einer neuen planimetrischen Meßmethode an Röntgenbildern kindlicher Hirnschädel. Unter Verwendung eines Planimeters werden die Flächen der Stirn und Scheitelebene bei 1250 Kindern al ler Altersstufen bis zu 13Jahren meßtechnisch erfaßt. Ihre normale Größe und ihr normales Wachstum im Verlaufe der kindlichen Entwicklung wird in Normdiagrammen festgehalten. Im Bewußtsein der Tatsache, daß Röntgenbilder dem Gesetz der Zentralprojektion und damit der projektionsbedingten Vergrößerung unterliegen, können allgemeingültige Aussagen über echte Größe und Wachstum des Hirnschädels nur dann gemacht werden, wenn Messungen am Röntgenbild umgerechnet werden. Mit Hilfe des 2. Strahlensatzes gelingt die mathematische Korrektur der in der Filmebene planimetrisch gemessenen, durch Projektion vergrößerten Flächenwerte in die Objektivwerte der Schädelebene des Probanden. Das Prinzip der Entwicklung entsprechender mathematischer Gleichungen für die Umrechnung der Meßwerte wird erläutert. Die Flächenwerte der Stirn- und Scheitelebene werden als nichtkorrigierte und korrigierte Werte in Wachstumsdiagrammen dargestellt. Es zeigt sich dabei deutlich, daß die Differenz zwischen den Mittelwertskurven der Flächenwerte am Röntgenbild und den mathematisch korrigierten Werten der wahren Schädelgröße am Objekt mit zunehmendem Alter größer wird. Das normale Wachstum des kindlichen Hirnschädels nach Beurteilung von Flächenwerten der Stirn- und Scheitelebene weist drei Perioden unterschiedlicher Wachstumsbeschleunigungen auf. Die erste, kürzeste Periode der schnellsten Wachstumsbeschleunigung innerhalb der ersten 13–14 Monate macht alleine 60% der gesamten Größenzunahme der Hirnschädelflächen in 13 Jahren aus.

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Method of planimetric measurement of the neurocranium on roentgenograms, with normal childhood values

A new planimetric method for the measurement and calculation of the planes of the neurocranium in frontal and sagittal projection is described. Roentgenograms of 1250 children have been evaluated by this method. The large number of cases enabled us to divide them into 35. The results obtained by this method are shown in diagrams with percentiles 5% and 95%. These relative measurements of the roentgenographic planes have been mathematically corrected to obtain the actual planes for the first time. This correction was actually computed with the aid of the second proposition of straight lines (2. Strahlensatz). The calculated values for the plane of the neurocranium make valid data concerning its size and growth possible. The uncorrected and corrected values are shown in two diagrams. Three periods of growth can be distinguished; first a period of rapid growth which ends at the age of about 12 months and is followed by the second period where growth is moderate, which ends at the age of 3 years 4–6 months; in the third and final period growth is wery slow and is not yet completed at the age of 13 years. These results were found in both the sagittal and the frontal planes. The difference between corrected and uncorrected measurements of the planes can easily be demonstrated. This difference increases with age. The results of this research give a general view of the growth of the neurocranium in childhood, undisturbed by technical interference.

     

一期联合手术治疗2～6岁发育性髋关节脱位儿童的临床和影像学结果评价

目的 通过回顾性分析2～6岁发育性髋关节脱位儿童一期行切开复位+ Salter骨盆截骨+股骨近端截骨术的联合手术方法的临床和影像学的随访结果,探讨2～3岁行一期联合手术是否会增加股骨头缺血性坏死(AVN)的风险.方法 收集2009年1月1日至2010年12月31日期间,在我院一期行切开复位+ Salter骨盆截骨+股骨截骨术的联合手术,年龄在2～6岁之间的发育性髋关节脱位患儿共31例(45髋),进行临床功能和影像学的随访研究.所有患儿按照手术时的年龄分为两组,1组为≤3岁(28髋),2组为＞3岁(17髋).根据T(o)nnis分型,Ⅲ型30髋(1组21髋,2组9髋),Ⅳ型15髋(1组7髋,2组8髋).股骨头缺血性坏死分级评价采用Kalamchi-MacEwen分型,临床功能结果采用McKay评分标准.结果 患儿手术时平均年龄为(37.22±11.60)个月.术后随访(5.93±0.76)年.最终随访时拍摄的骨盆X线正位片,采用Kalamchi-MacEwen分型判定未发生AVN共31髋(68.2％),发生AVN共14髋(31.1％).1组共19(67.9％)髋未发生AVN,共9髋(32.1％)发生AVN.2组分别为12髋(70.6％)和5髋(29.4％),两者之间差异并无统计学意义(P=0.560).在1组发生AVN的患儿中,Ⅰ型4髋(44.4％),Ⅱ型1髋(11.1％)Ⅲ型3髋(33.3％),Ⅳ型1髋(11.1％),2组分别为Ⅰ型3髋(60％),Ⅱ型1髋(20％),Ⅲ型0,Ⅳ型1髋(20％).根据McK-ay评分系统,优秀33髋(73.3％),良好7髋(1 5.6％),一般4髋(8.9％),差1髋(2.2％).两者之间差异并无统计学意义(P=0.944).所有45髋中,只有1例出现半脱位行二次手术,再手术的发生率为2.22％.结论 发育性髋关节脱位儿童在2～6岁时行一期联合手术长期随访的临床功能和影像学结果是满意的.儿童在2～3岁时行一期联合手术并没有显著增加AVN的发生,并获得良好的髋关节临床功能.这说明2～3岁时行一期联合手术可以获得良好的效果,是安全有效的.     

Ductal origin of the left pulmonary artery in severe tetralogy of Fallot: Problems in management

Summary Cardiac catheterization in a neonate demonstrated tetralogy of Fallot and absence of anatomic origin of the left pulmonary artery from the main pulmonary artery. A central aortopulmonary shunt was performed in order to increase pulmonary blood flow. Because of the concern that the left pulmonary artery was actually being supplied by a ductus arteriosus, repeat catheterization was performed and this revealed closure of the ductus arteriosus with obliteration of arterial supply to the left pulmonary artery. A left Blalock-Taussig shunt was subsequently performed and this reestablished blood supply to the left pulmonary artery. This case report describes problems in management of congenital heart disease with absence of anatomic origin of the left pulmonary artery from the main pulmonary artery.     

“Tetralogy of Fallot” and Étienne-Louis Arthur Fallot

The eponym “tetralogy of Fallot” did not become a common noun in pediatric cardiology vocabulary for several decades after étienne-Louis Arthur Fallot’s report in a French medical journal. There were others before Fallot who described the abnormal cardiac anatomical findings seen in tetralogy of Fallot, but his name became fixed to the condition’s eponym primarily through Maude Abbott popularizing the term.     

Nonsystemic treatment of metastatic tumors of the liver—a review

Hepatic metastasis is usually quite resistant to conventional systemic chemotherapy. Nonsystemic treatment of metastatic tumors of the liver include surgical resection; infusion of chemotherapeutic agent(s), either via hepatic artery or portal vein; ligation of hepatic artery; radiotherapy; and other more investigative approaches (isolation perfusion, cryosurgery, liver transplantation, etc). The relative applicability, results, and limitations of each of these therapeutic modalities are reviewed.     

Prolapse of intussusceptum through a perforated intussuscipiens

Two patients with prolapse of an intususceptum through a perforation in the intussuscipiens are described. There was little peritonitis at exploration. Prolapse of an intussusceptum is an occasional operative finding in patients with perforated intussusception.     

Unusual Hemodynamic Changes in an Infant with a Restrictive Ventricular Septal Defect

A 7-month-old asymptomatic infant was known to have a restrictive membranous ventricular septal defect partially closed by an aneurysm of the membranous septum. At 13 months of age, he developed unexpected pulmonary hypertension, with no clinical sign of cardiac failure. Cardiac catheterization assessed the pulmonary artery pressure at a systemic level with significant left-to-right shunt. After surgical closure, the pulmonary arterial pressure decreased by 50%. We suspect an enlargement of the ventricular septal defect caused by the rupture of the aneurysm of the membranous septum—a rare complication.     

小儿法洛四联症根治术后早期死亡的危险因素分析

目的 探讨小儿法洛四联症(tetralogy of Fallot,TOF)手术后早期死亡的危险因素,以提高手术成功率,降低手术病死率.方法 2003年1 月至2010年12月期间在成都心血管病医院行TOF根治术患儿191例,其中男142例,女49例;年龄4个月～12岁.收集所有患儿术前、术中和术后的临床资料,分析影响TOF手术后早期死亡的危险因素.结果 191例患儿,围术期死亡6例(3.14％),死于手术后感染合并多器官功能衰竭3例,低心排血量综合征2例,脑部并发症1例.其中≤6个月患儿病死率6.67％(2/30),6个月～3岁患儿病死率1.41％ (1/71),3～12岁患儿病死率3.33％ (3/90).多因素Logistic回归分析结果表明,年龄≤6个月(OR=4.606,95％CI 1.811 ～11.719,P＜0.05)、术前血氧饱和度＜70％(OR=0.982,95％ CI 0.501 ～ 1.932,P＜0.01)、Nakata指数＜140mm2/m2(OR=16.960,95％CI 1.414 ～ 150.390,P＜0.01)、体外循环时间＞150 min(OR=4.398,95％CI2.091 ～9.216,P＜0.01)及术后多器官功能衰竭(OR=4.872,95％CI 2.583 ～ 9.192,P＜0.05)是小儿TOF根治术后早期死亡的危险因素.结论 临床上可根据患儿年龄、术前血氧饱和度、Nakata指数、体外循环时间及术后并发症预测TOF根治术后早期死亡的危险性.     

The discovery of phenylketonuria

In 1934, two severely mentally retarded children were examined by Dr Asbjørn Følling. He proved, by classical organic chemistry, that they excreted phenylpyruvic acid in their urine. The substance was also found in the urine of eight additional mentally retarded patients. Based on these observations, oligophrenia phenylpyrouvica (later termed phenylketonuria) was described as a new inborn error of metabolism. Følling later showed the pattern of an autosomal recessive genetic disease, probably caused by a block in phenylalanine metabolism, and that asymptomatic heterozygote carriers of the trait could be detected by phenylalanine loading. The stepwise elucidation and the line of reasoning are described. Phenylketonuria was the first inborn error of metabolism shown to affect the mind, and its importance as a model disease is emphasized. The article finally gives some insight into aspects of the personality of the discoverer.     

Genfrequenz der hereditären Galaktosämie unter Berücksichtigung der Duarte-Variante

Zusammenfassung Im Einzugsgebiet der Kinderkliniken Graz und Erlangen wurden bei insgesamt 1793 Probanden Blutuntersuchungen vorgenommen, um aus der Aktivität der Galaktose-1-Phosphat-Uridyltransferase die Heterozygoten- bzw. Genfrequenz der Galaktosämie für dieses Gebiet zu berechnen. Im Raum um Erlangen fanden wir unter 862 Personen 10 mit einer Enzymaktivität der Gal-1-PUT zwischen 6,7–9 U/gHb, in der Steiermark (St) 17 unter 931 untersuchten Personen (jeweils gesunde Kinder und Erwachsene). Die Heterozygotenfrequenzen betragen demnach 1:85 (E) bzw. 1:55 (St) mit Genfrequenzen von 0,0059 (E) bzw. 0,0092 (St). 11,38% der Gal-1-PUT-Werte der Gruppe St konnten unter die Duarte-Heterozygoten-Merkmalsträger (Gt^D/Gt⁺) eingereiht werden, in der Gruppe E waren es 13,44%. Die Genfrequenz liegt hierfür bei 0,067 (E) bzw. 0,055 (St). Häufig wird die Diagnose einer Galaktosämie deswegen nicht gestellt, weil die Neugeborenen mit dem klinischen Bild eines Icterus gravis und einer Sepsis zur Aufnahme kommen und oft nach einem foudroyanten Verlauf versterben.

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Estimation of the incidence of galactosemia in the population with reference to the duarte variant

A total of 1793 normal children and adults were examined for galactose-1-phosphate uridyl transferase deficiency. A quantitative enzyme assay (UDPG-consumption test) had been carried out on all samples. In this population, 931 subjects lived in the Graz (St) area and 862 in the region of Erlangen (E). In the first group (St) we found 17 carriers of galactosemia (incidence of gene: 0.0092) and in the second group (E) there were 10 heterozygotes for galactosemia (incidence of gene: 0.0059). The frequency of hereditary galactosemia is therefore in the order of 1:12000 (St) and 1:29000 (E) live births. Another type of transferase deficiency is known, the Duarte Variant (GT^D). Subjects who are homozygous for the Duarte Variant have approximately half the normal enzyme activity, heterozygotes three-quarters. Heterozygotes for this gene were much more common: in the first group 11.38% and in the second 13.48% (incidence of gene: 0.056 (St) and 0.067 (E)). In addition, two patients heterozygous for both the Duarte Variant and the gene for galactosemia were found (Gt^D/gt) in each group, these subjects have approximately one quarter of the normal enzyme activity. Thus it appears the prevalence of galactosemia in these two regions is the same as was found by Beutler in California and Thalhammer in Vienna. Often infants with galactosemia die with icterus gravis or sepsis in the neonatal period. Galactosemia should be considered in the differential diagnosis in any gravely ill infant.

Herrn Professor Dr. Navratil zu seinem 70. Geburtstag.