Long-term functional results after perineal surgery for low anorectal anomalies

As part of a long-term follow-up review of anorectal anomalies treated at the Royal Children's Hospital, Melbourne, we examined 70 patients with translevator (low) anomalies treated by a perineal operation and assessed their anorectal function by four clinical scoring methods (Kelly, Templeton, Kiesewetter, and Wingspread). The results were compared qualitatively after conversion into three categories: good; fair; and poor. Over 90% of patients achieved socially acceptable anorectal control. The incidence of accidental defaecation was shown to be age-related, patients seen after 10 years of age having a lower incidence of soiling than younger children. The incidence of smearing or staining did not diminish with age. Prolonged management was required in 5 patients who continued to have a poor level of faecal continence. Anorectal function was not adversely affected by the anterior position of the anal orifice in most patients after simple perineal surgery. Offprint requests to: S. W. Beasley     

Impact of different doses of ethinyl oestradiol on reduction of final height in constitutionally tall girls

Fifty-two tall girls were treated for constitutionally tall stature with different ethinyl oestradiol (EE) dosages. They were divided into three different treatment groups: group B (100 g EE/day;n=11); group C (300 g;n=25) and group D (500 g;n=16) and compared with an untreated group A (n=21) matched for age, height, bone age (BA) and height prediction. Using the height prediction method TW II, EE treatment reduced final height compared with the untreated girls in a weak dose-dependent manner, 2.3 cm (100 g/day), 3.0 cm (300 g/day), and 3.8 cm (500 g/day). Such a dose dependency was not found on applying the Bayley-Pineau height prediction method (100 g/day: 4.1 cm; 300 g/day: 4.2 cm; 500 g/day: 4.5 cm). However, there was a striking inverse correlation of the BA at the onset of treatment with the height reduction achieved using the TW II method (r: –0.43;P<0.001). Importantly, girls with a BA below 12 years at the onset of treatment experienced a height reduction of more than 6 cm.The EE dose used in the range of 100–500 g/day is not crucial for the amount of height reduction in tall girls. In general high dose EE treatment should be given restrictively, and especially so in girls with a BA (TW2 RUS-ZH) above 12.0 years.     

Die β-Aktivität im EEG des Kindes

Zusammenfassung Im Vergleich zu den in der. I. Mitteilung berichteten Merkmalen der -Wellen beim gesunden Kinde werden die Kriterien der abnormen -Aktivität aufgezeigt und folgende Erscheinungsformen bei cerebralen Erkrankungen festgestellt: Generalisierte -Wellen, Paroxysmen bilateral synchroner -Wellengruppen, Herdveränderungen, die sowohl durch das umschriebene Auftreten abnormer -Wellen, wie auch durch das regionale Fehlen physiologischer -Aktivität im Wach-und Schlaf.-EEG gekennzeichnet sein können.Abnorme -Wellen erscheinen neben anderen EEG-Veränderungen bei folgenden Krankheitsgruppen: l. pharmakologischen Intoxikationen, 2. cerebralen Anfallsleiden, 3. entzündlichen Hirnerkrankungen, 4. intracerebralen Blutungs-bzw. Erweichungsherden, 5. vasomotorischer Labilität.Longitudinaluntersuchungen bei cerebralen Erkrankungen (z. B. Meningitis tuberculosa), erbrachten den Nachweis, daß den -Wellen bei abnormer Ausprägung der gleiche Krankheitswert zukommt, wie anderen EEG-Veränderungen.Der diagnostische Wert abnormer -Aktivität wird besonders bei den exogenen Intoxikationen und den intracerebralen Blutungs-und Erweichungsprozessen erkennbar.     

Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): A follow-up study

We re-examined 21 children with the possible diagnosis of peripheral neurofibromatosis (NF1) based on the presence of cafè-au-lait (CAL) spots as the single clinical finding. We evaluated whether typical or atypical appearance of the spots was important for the final diagnosis and whether the co-existence of other nonspecific signs (e.g. pectus excavatum) were of any significance for the final diagnosis. In 8/14 (57.1%) cases with typical CAL spots, the diagnosis of NF1 was finally established on the basis of other criteria. For the other 6 patients the diagnosis is not yet definitive but highly probable on the basis of the presence of macrocephaly, pectus excavatum and/or MRI findings. Only one patient among five with atypical CAL spots possibly has NF1.     

Evaluation of prognostic criteria in extrahepatic bile duct atresia

Extrahepatic bile duct atresias must be classified into four histopathological groups according to the characteristic numerical, metrical, and morphological alterations of the interlobular bile ducts. A prospective study based on an observation period of 5 and more years included 43 patients with extrahepatic biliary atresia. It showed that prognosis is generally dependent on three factors: (1) the duration of cholestasis; (2) the structure of the bile ducts in the praehilaeren Versclussplatte; and (3) the histopathologically defined features of the interlobular bile ducts. The total diameter of all bile duct structures in the praehilaeren Verschlussplatte is unmistakably the most significant finding. A total diameter of more than 400 m indicates a favorable prognostic subtype, while a total diameter of less than 400 m is unfavorable. Even if the prognostically favorable type of finding is present, the ultimate prognosis is determined by the histopathological features of the interlobular bile ducts. Therefore, four characteristic groups must be taken into consideration when evaluating prognosis.     

Adrenoceptors and the lung: their role in health and disease

- and -Adrenoceptors have each been divided into two subgroups (₁, ₂, ₁ and ₂). The basic mechanisms underlying the adrenoceptor/effector coupling are complex and vary for the -, but not for the -subpopulations. Adrenoceptors of the bronchi and the lung show a special pattern of distribution and response, ensuring that the airway system works as a functionary unit. Dysfunctions of adrenoceptormediated effects have been suggested to contribute to some important paediatric disorders such as hyaline membrane syndrome, wet lung, bronchial asthma, cystic fibrosis, and pertussis. Drugs which act on the adrenergic system influence some of these disorders directly. Further studies applying modern techniques to receptor research are needed in order to clarify the basic mechanisms involved in receptor-mediated lung disorders and the activity of drugs in lung tissue.Abbreviations AC adenylate cyclase - ADP adenosine diphosphate - -R -adrenoceptor - cAMP cyclic adenosine monophosphate - CF cystic fibrosis - GDP guanosine diphosphate - GTP guanosine triphosphate - IAP islet activating protein     

The management of necrotizing enterocolitis by “patch,drain, and wait”

The operative management necrotizing enterocolitis continues to be associated with substantial mortality and many difficulties. A new approach is presented with illustrative cases. Neither resection nor enterostomy is a part of this approach, which emphasizes maximum salvage of compromised intestine. Major features of this method are prolonged hyperalimentation, gastrostomy, minimal bowel handling, transverse approximation (patching) of the upper and lower margins of a limited number of major perforations, and extensive and prolonged drainage of the peritoneal cavity by Penrose drains placed from both diaphragms to exit sites in the inferior aspects of both lower quadrants. Enteric fistulas developed in the majority of cases presented (4/5) and were captured by one or both of the Penrose drains with disappearing peritonitis and the formation of de facto enterostomies at one of the drainage sites (generally the left side). De facto enterostomies that did not close spontaneously were closed operatively. This approach may also be of value in the management of midgut volvulus with extensive vascular compromise of the midgut.     

Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction

The plasma of some patients with biochemical evidence of a generalised peroxisomal dysfunction (GPD) show greatly increased levels of phytanic acid as well as its -oxidation product, pristanic acid (2, 6, 10, 14-tetramethylpentadecanoic acid). Increased amounts of 14- and 16- carbon branched chain fatty acids are also found in some of these patients. As pristanic acid is present in normal or near-normal amounts in classical Refsum disease and rhizomelic chondrodysplasia, two disorders characterised by deficiencies in phytanic acid oxidation, we speculate that its accumulation is not secondary to a defect in the -oxidation of phytanic acid, but is indicative of a block in the peroxisomal -oxidation of pristanic acid. The finding of phytanic acid, as well as a number of its metabolites in patients with inherited defects in peroxisomal biogenesis indicates that a number of the steps in phytanic acid degradation may be confined to peroxisomes.Abbreviations GPD generalised peroxisomal dysfunction - VLCFA very long chain fatty acids - THCA 3, 7, 12-trihydroxy-5-cholestan-26-oic acid - br branched chain fatty acid - ALD adrenoleukodystrophy - DHAPAT dihydroxyacetone phosphate acyltransferase     

The developmental change in the Gγ and Aγ globin. Proportions in hemoglobin F

The proportions of ^G and ^A globins in hemoglobin F were determined in fetuses around the 20th week of gestation, newborns, and children 3 weeks to 5 months of age. In the last group, the ^G/^G + ^A ratio decreased continously; there was a good correlation between the decline of ^G with respect to total and the decline of Hb F (r=0.88). In contrast, there was virtually no difference in the globin composition of Hb F between the fetuses and the newborns, i.e. in late pregnancy, the decrease in the synthesis of both globins appears to be proportionate. The ^G and ^A globin genes may be inactivated in a sigmoidal fashion with time, thus producing a ^G/^G + ^A ratio which at first changes only slightly and then declines linearily.Supported by a grant from the Deutsche Forschungsgemeinschaft (Je 56/10)     

The outcome of childhood obesity management depends highly upon patient compliance

Over the last 20 years, obesity in childhood and adolescence has become a major public health concern due to dramatically increasing prevalence rates. We evaluated the outcome of 294 children (135 girls, 159 boys) aged 6–16 years (median 10.9 years) enrolled in a single centre outpatient obesity intervention programme consisting of periodical visits to the outpatient unit with regular medical and dietetic counselling aiming at a modification of dietary and activity patterns of patients and parents. The average number of visits to the outpatient unit was 3.6 (SD 2.7) with a mean visit interval of 62.1 days. A mean drop-out rate of 27.5% between each scheduled appointment occurred. In a stepwise regression model, neither reduction of the standard deviation score of patients body mass index (BMI-SDS) nor dietary counselling contributed to the total number of visits. The only significant contributor was the patients initial BMI-SDS explaining 4.6% of the variance of attended visits adjusted for age and sex. Segregation of the patients into an obesity (initial BMI-SDS 90th percentile, at least three visits attended, n =59) and an excessive obesity (initial BMI-SDS 99th percentile, at least four visits attended, n =75) subgroup showed a mean reduction of BMI-SDS in the obesity group at visit three of 0.14 (SD 0.21, P <0.0001), and in the excessive obese group at visit four of 0.17 (SD 0.22, P <0.001). In a stepwise regression model, the mean interval between visits and regular dietary counselling explained 11.7% of the variance of BMI-SDS reduction at visit three in both subgroups. Conclusion: there is an urgent need for efficient strategies to improve adherence of outpatients to obesity treatment since, in terms of reduction in body mass index standard deviation score, a beneficial outcome can be achieved for compliant obese children and adolescents.Abbreviations BMI body mass index - BMI-SDS body mass index standard deviation score     

Recurrent,familial Reye-like syndrome with a new complex amino and organic aciduria

Five of 13 siblings from a Jewish-Ashkenazi family suffered from recurrent Reye-like episodes. During attacks, these patients excreted -keto-adipic, -hydroxy-adipic, and -aminoadipic acids, branched-chain keto acids and saccharopine in addition, to lactic, pyruvic, and dicarboxylic acids characteristic of Reye syndrome. The serum concentrations of citrulline and -aminoadipic acid were elevated and carnitine was at the upper limit of the normal range. Serum acetoacetate level was 4–5 times the -hydroxybutyrate level, but the pyruvate/lactate ratio was normal. Notably, plasma ketone bodies were lower than expected from the degree of catabolism. When the patients were symptom-free, no abnormal amino or organic acids in serum or urine were detected. These findings might be interpreted as a functional impairment at three different biochemical sites: fatty acid -oxidation, dehydrogenase complexes of the pyruvic, -ketoglutaric, -ketoadipic, and branched-chain keto acids, and pyruvate carboxylase. We suggest that in this hereditary disorder a toxic substance, exogenously or endogenously derived, interfered at multiple sites in different metabolic pathways.     

The clinical phenotype of β and δβ thalassemias in Greece

Based on precise evaluation of hematological findings and clinical manifestations, the relationship between genotype and clinical phenotype was studied in 475 Greek patients with and thalassemias. Almost all known genotypes are included in this series, but the most frequent was homozygous ^th high A₂ (71.6%), ^th/^th silent (7.4%), ^th/^oth high F (6.3%) and ^th/^th Dutch (6.3%).In general, the phenotype was related to the genotype, though clinical heterogeneity was detected among patients with the same genotype. The severe type of thalassemia major was most commonly found in homozygous ^th patients mainly of ^o/^o and ^o/⁺ genotypes while homozygous ⁺ patients had milder clinical manifestation. Furthermore a small group of patients, characterized as homozygous ⁺⁺ (HbF<30%) had mild thalassemia intermedia. In addition mild thalassemia intermedia was principally related with homozygous ^oth, and compound heterozygous ^th/^th silent I, and less frequently with other genotypes such as compound heterozygous with ^th/^th Dutch, ^th/^th silent II, ^th/^th high F or Lepore.It was shown that precise genetic characterization and clinical evaluation is of primary importance in predicting the prognosis and formulating the proper treatment for the individual patient with thalassemia.     

Urinary oligosaccharide screening in patients with β-galactosidase deficiency

Following ion-exchange chromatography and subsequent thin-layer chromatography, 3 peculiar oligosaccharide excretion patterns were distinguished in 3 patients with -galactosidase deficiency. Each patient differed clinically and it is proposed that this method may be of use in characterising various forms of -galactosidase deficiency.Dedicated to Prof. Dr. H.-R. Wiedemann on the occasion of his 65th birthdaySupported by a grant from the Stiftung Volkswagenwerk     

Fetal bile acids in congenital biliary atresia —production in the liver and clinical significance

The 1-hydroxy bile acids have been said to be fetal bile acids. These bile acids were evaluated in eight patients with congenital biliary atresia (CBA) using gas chromatography-mass spectrometry. At the time of operation 1,3,7,12-tetrahydroxy-5-cholan-24-oic acid (CA-1-ol) and 1,3,7-trihydroxy-5-cholan-24-oic acid (CDCA-1-ol) were 0.46 ± 34 g/ml and 0.72 ± 0.45 g/ml, respectively, which was significantly higher than in the control group. The percentage CA-1-ol of total bile acids showed a tendency to decrease as age advanced. The grade of hepatic fibrosis ranged from F₂ to F₃ and the values and percentages of CA-1-ol and CDCA-1-ol were relatively higher in F₂ than F₃ patients. The percentage of total bile acids gradually increased in patients without sufficient bile flow but fell sharply after Kasai's procedure in the patients with sufficient bile flow. It appears that fetal bile acids are produced in the livers of CBA patients in the same way as in fetal liver, and that production continues in patients without good bile secretion even after Kasai's procedure. These results suggest that these hydroxylases are reactivated in CBA patients.     

Pilomatricoma in childhood: a retrospective study from three European paediatric centres

Pilomatricoma is characterised as a common, slowly growing benign cutaneous tumour that appears generally within the first decades of life. The clinical diagnosis is frequently missed, especially by the paediatrician unfamiliar with these tumours. We present the experience gained in three European tertiary care paediatric centres with the treatment of pilomatricoma and also current data on the aetiology, clinical presentation and management. A retrospective study was carried out in 83 patients suspected for pilomatricoma during a 7-year period (1996–2002) at the departments of Paediatric Surgery of the Childrens University Hospital Federico II, Naples, Hospital San Bortolo, Vicenza and Aghia Sophia Childrens Hospital, Athens. The age range was from 10 months to 17 years, median age 8 years. All patients were treated by surgical excision and all specimens were examined by histopathological assessment. The follow-up varied from 5 months to 6 years. The correct diagnosis was made preoperatively in 68 patients (82%). The female/male ratio was 2:1. The sites of occurrence were the head (47.5%), especially in the periorbital region, the neck (9%), the upper limbs (35.5%), the inferior limbs (4%) and the thorax (4%). Each patient exhibited a single pilomatricoma except for two patients who had multiple lesions (2.4%). One of them had Steinert disease (myotonic dystrophy). No recurrences were observed during the follow-up period. Conclusion:Pilomatricoma is one of the most common cutaneous adnexal neoplasms in children. Surgical excision including clear margins and its overlying skin in most cases is the treatment of choice. The recurrence as well as malignant evolution is rare.     

Definition of a new score for severity of generalizedNeisseria meningitidis infection

Neisseria meningititidis infection may present as meningitis or as severe, fulminant sepsis. In order to classify individual patients early according to the expected course of the disease, we developed a score named Neisseria sepsis index [NESI]. The NESI was defined using the parameters heart rate, mean arterial blood pressure, base excess and presence of acute subcutaneous bleeding and/or skin necroses (minimal value [=no evidence for sepsis] NESI 0; maximum value [=most severe sepsis] NESI 8). Seventeen patients with documented, systemicN. meningitidis infection were prospectively assessed for the terminal complement complex (TCC), serum tumour necrosis factor (TNF) levels (as laboratory parameters for severity of sepsis) and NESI score. The evaluation was immediately performed when the patients were admitted to the hospital. The 17 patients showed the following distribution of data: NESI 0 (n=4), NESI 1 (n=6), NESI 2 (n=0), NESI 3 (n=1), NESI 4 (n=2), NESI 5 (n=1), NESI 6 (n=0), NES( 7 (n=1), NESI 8 (n=1). Mortality was 4/17 patients, all had NESI 5. TCC values ranged from 647–6461 ng/ml (normal range: 130–360 ng/ml); and was not correlated to NESI. TNF values ranged from 10–910 pg/ml and were correlated to NESI (r ²=0.71,n=17,P<0.001). In patients with fatal outcome, TNF was 600±160 pg/ml (mean±SEM) and in surviving patients 130±50 pg/ml (mean ± SEM). TNF was increased in 15/17 patients when compared to normal controls (<27 pg/ml).Conclusion The NESI is based on few clinical, objective data, that are available in every hospital. NESI appears to offer an instrument: (1) for making decisions in regard to appropriate monitoring and treatment of vital organ function; and (2) for assessing the quality of care for this life-threatening infection.Part of this work was presented at the 89. Jahrestagung für Kinderheilkunde, September 1993.     

Renal,pancreatic and hepatic dysplasia sequence

A renal, pancreatic and hepatic dysplasia sequene (RPHD sequence) was found in a male premature baby who died a few minutes after birth. Autopsy documented multicystic dysplastic kidneys, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates, prominent portal tracts containing dilated bile ducts and hypoplastic lungs. Other organs were normal. This triad constitutes a dysplastic sequence and was first reported by Ivemark et al. [6] as familial dysplasia of kidneys, liver and pancreas. Since then, this combination of abnormalities has been named polycystic dysplasia [4] and renal-hepatic-pancreatic dysplasia [1], but mostly Ivemark syndrome [8], at the risk of being confused with asplenia-cardiac anomaly syndrome, which was reviewed by Ivemark et al. [5] and also bears Ivemark's name.Abbreviation RHPD renal pancreatic and hepatic dysplasia sequence     

Urinary excretion of 17-hydroxypregnanolones in patients with different forms of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

To improve diagnostic criteria in different (classical salt-wasting (SW), classical simple virilizing (SV) and non classical late onset (LO)) forms of congential adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency, we investigated the urinary excretion of 17-hydroxypregnanolones (17OH-PO(5) and (5), 15-hydroxypregnanolone(15OH-PO), pregnanetriol(PT) and 11-oxo-pregnanetriol (11-O-PT) compared to hydrocortisone metabolities During the 1st month of life newborn infants with CAH-SW excreted from barely detectable to very large amounts of 17OH-PO(5), 15OH-PO and PT, and, in 12 of 14 cases, also 11-O-PT in their urines. From the 1st to the 28th day of life, cortisol metabolites were virtually absent in urines of CAH-SW infants. This was in contrast of 36 healthy newborn infants. We measured the excretion of 17OH-PO(5) in children with CAH of whom 19 patients with CAH-SV had a median 17OH-PO(5) excretion of 1110 g/day (range: 152–5515). In 21patients with CAH-LO, median excretion of 17OH-PO(5) was 294g/day (range: 66–1273). Besides the conventional metabolites of 17-hydroxyprogesterone (17OH-PO(5), PT and 11-O-PT),no 17OH-PO(5) was detected in the urines of 14 patients with precocious pubarche, in 14 patients with virilization of unknown origin and in 94 healthy children of comparable age. The ratio of 17OH-PO(5) to tetrahydrocortisone (THE) discriminated between CAH-SV and CAH-LO from the 1st to the 18th year of age. The determination of urinary 17OH-PO(5) is an excellent diagnostic method in CAH-SV as well as CAH-LO.     

Auswertung des „Allgemeinen Krankenblattkopfes” an der Universitäts-Kinderklinik Köln

Zusammenfassung Der Allgemeine Krankenblattkopf wurde im Frühjahr 1962 an der Universitäts-Kinderklinik Köln eingeführt. Der dadurch entstandene zusätzliche Arbeitsaufwand konnte durch Zusammenarbeit mit der Lochkartenstelle der Klinikverwaltung reduziert werden. Neben der Jahresstatistik wurde ein Diagnoseregister mit Hilfe eines Computers erstellt. Diese Diagnosenlisten erwiesen sich als wertvoll für die wissenschaftliche Arbeit in der Klinik. Eine vollautomatisierte Analyse der Diagnosenfrequenz auf signifikante Häufigkeitsänderungen und Trend machen es möglich, den Arzt auf auffällige Veränderungen hinzuweisen.

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The usefulness of a standardised medical record master card

Summary Five years ago the Allgemeine Krankenblattkopf (standard medical Record) was introduced at the Pediatric Hospital of the University of Cologne.Since then several computer aided data processing methods were developed which improved hospital statistics and proved helpfull in research work. Special attention was given to an authomatic recording of any statistical relevant change in the distribution of diagnosis.

     

β-Blocker Therapy Failures in Symptomatic Probands with Genotyped Long-QT Syndrome

-Blocker therapy is one of the principal therapies for congenital long-QT syndrome (LQTS). However, breakthrough cardiac events occur while being treated with -blockers. We sought to determine the frequency of and clinical correlates underlying -blocker therapy failures in genotyped, symptomatic LQTS probands. The medical records were analyzed only for genotyped LQTS probands who presented with a LQTS-attributable clinical event and were receiving -blocker therapy. The study cohort comprised 28 such patients: 18 KCNQ1/KVLQT1(LQT1), 7 KCNH2/HERG (LQT2), and 3 SCN5A (LQT3). The prescribed -blocker was atenolol (12), propranolol (10), metoprolol (4), and nadolol (2). -Blocker therapy failure was defined as breakthrough cardiac events including syncope, aborted cardiac arrest (ACA), appropriate implantable cardioverter-defibrillator (ICD) therapy, or sudden death occurring while on -blocker therapy. During a median follow-up of 46 months, 7/28 (25%) LQTS probands experienced a total of 15 breakthrough cardiac events. Their initial presentation was ACA (3), bradycardia during infancy (2), and syncope (2). The underlying genotype was KVLQT1 (6) and HERG (1). Two breakthroughs were attributed to noncompliance. Of the 13 breakthroughs occurring while compliant, 10 occurred with atenolol and 3 with propranolol (p = 0.03). In this study cohort, one-fourth of genotyped LQTS probands failed -blocker therapy. Treatment with atenolol, young age at diagnosis, initial presentation with ACA, KVLQT1 genotype, and noncompliance may be important factors underlying -blocker therapy failures.