The effect of early diagnosis of congenital dislocation of the hip.

The effects of early diagnostic measures of congenital dislocation of the hip (CDH) in Malm? during the years 1956-1972 were investigated. Of 58759 newborns 548 were diagnosed as having CDH. Only 4 cases were missed at the initial examination. Thus, all, or almost all, children with CDH can be diagnosed at birth provided that the initial examination is undertaken within 24 or 48 hours.     

A new protocol for the perinatal management of patients with congenital diaphragmatic hernia with severe hypoplastic lungs and its clinical application

It is prerequisite for the pre-operative management of patients with congenital diaphragmatic hernia (CDH) to avoid the factors that increase pulmonary vascular resistance, because such patients easily fall into the state of persistent fetal circulation (PFC). In this paper, a new protocol is proposed for the perinatal management of CDH patients to prevent the PFC which is facilitated by the enlargement of hernia and the deviation of mediastinum caused by spontaneous breathing just after birth. We also describe the usefulness of this protocol based on our experience in which we successfully treated a patient with CDH with severe hypoplastic lungs that were diagnosed antenatally by ultrasonographic examination. In treating the CDH patient with severe hypoplastic lungs, it is effective for the respiratory control and the prevention of PFC to administer morphine and pancuronium to the neonate through the umbilical vein before the resection of the umbilical cord. In the case of Cesarean section, in addition to the direct administration of morphine to the patient, administration of morphine to the patient's mother just before the delivery is more effective to prevent PFC, which can be easily induced by the initial resuscitation at birth.     

Familial severe congenital diaphragmatic hernia: Left herniation in one sibling and bilateral herniation in another

Familial congenital diaphragmatic hernia (CDH) is extremely rare; it comprises about 2% of all CDH cases. The empirical risk is about 2%, increasing to 10% in a family with two affected children. This report describes severe CDH in two siblings who had been diagnosed prenatally. The female newborn diagnosed with left CDH prenatally was born at 38 weeks of gestation. Despite surgical repair and intensive treatment, she died 10 days after birth. Her younger brother was born at 39 weeks of gestation after being diagnosed with bilateral CDH prenatally, and died 75 min after birth. Both infants had neither other congenital anomaly nor chromosomal abnormalities. Their parents are healthy without consanguinity. Their first daughter and the fourth child have no congenital anomalies.     

MORPHOMETRIC ANALYSIS OF PULMONARY DEVELOPMENT IN THE SHEEP FOLLOWING CREATION OF FETAL DIAPHRAGMATIC HERNIA

Congenital diaphragmatic hernia (CDH) in humans is relatively common and associated with high mortality attributed mainly to pulmonary hypoplasia. Previous animal models have induced CDH late in gestation, in contrast to the human situation, and only limited morphometric analyses have been reported. We undertook early surgical creation of CDH in fetal lambs, days 72-74 of gestation (n 8), with unoperated lambs (n 8) as controls. At 143 days (term 145-149) a cesarean section was performed and the lungs were obtained, inflation fixed, divided into lobes, and processed for morphometry. In the CDH group the total lung volumes (51.3 mL compared to 223.8 mL) and gas exchange surface areas (5.85 m2 versus 26.43 m2) were less than one quarter of control values. Capillary loading was reduced from 0.3 mL m2 in controls to 0.12 mL m2 in CDH and parenchymal volume reduced from 77 in controls to 57 in CDH. Within parenchyma, gas exchange tissue volume was increased in CDH (66 ) compared with controls (50 ). CDH lungs had primitive air sacs alveoli that were smaller (perimeter 83 mu m) and more numerous (1321 per mm2) than in controls (perimeter 132 mu m, 504 per mm2). The left lung and left upper lobe were affected most. Induction of CDH in the lamb at this early age results in quantifiable, reproducible pulmonary hypoplasia from which comparisons can be made with the human condition.     

CONGENITAL DISLOCATION OF THE HIP IN NORWAY Late Diagnosis CDH in the Years 1970 to 1974

ABSTRACT. A survey of 274 late detected cases of CDH born in the years 1970–74 is presented. The incidence of late cases in southeast Norway was calculated to 2.2 per 1000 live births. The hips of all patients were examined at birth, the majority by trained pediatricians, without disclosing any hip affections. 86% were females. Only 6.9% were delivered in the breech position. One–half of the patients had luxation (20%) or subluxation (30%), the rest had dysplasia without dislocation. In 19% both hips were involved. The low incidence of breech presentations in late CDH-cases compared with the incidence among neonatal cases (15.7%) point to some etiological differences. It seems that we in Norway have two types of CDH, one caused by joint laxity and detectable at birth and another, not present at birth, with progressive dysplasia of the hip and dislocation developing during the first year of life.     

Ultrasound screening of high-risk infants. A method to increase early detection of congenital dysplasia of the hip.

Congenital dysplasia of the hip (CDH) continues to be missed by routine physical screening examinations in the early months when treatment is most effective. Real-time ultrasonography (US) is valuable in the detection of CDH in the young infant. We performed a prospective study to evaluate one US screening strategy that targets a select "high-risk newborn" population at risk for CDH aiming to increase the early diagnosis of this condition. From 1772 consecutive births at one hospital, we identified 97 (5.5%) newborns with risk factors for CDH: breech delivery, 73 babies; family history, 26 babies; postural abnormalities, five babies; and oligohydramnios, four babies. Eleven newborns had two risk factors. We studied 69 of these newborns with US. There were four cases of CDH in this group. Three of these babies had completely normal pediatric physical examination results at the time of the US study (at 14, 75, and 100 days, respectively) despite dysplasia diagnosed by US. All were successfully treated with a harness as outpatients. We conclude that a screening program entailing identification and subsequent US of the hip of newborns with specific physical and historical risk factors for CDH increases early diagnosis. Further analysis suggests this approach is cost-effective.     

Congenital diaphragmatic hernia in identical twins

The authors present a pair of identical twins with congenital diaphragmatic hernia (CDH) diagnosed prenatally, who underwent successful surgical repair. They were diagnosed as having CDH at 32 weeks' gestation and showed respiratory distress soon after cesarean section at 33 weeks' gestation. Both survived after scheduled perinatal management followed by surgery, for which the prenatal diagnosis of CDH was valuable. Accepted: 17 June 1999     

MENARCHEAL AGE IN GIRLS WITH CONGENITAL DISLOCATION OF THE HIP

Abstract Fredensborg, N. and Nilsson, B. E. (Department of Orthopedic Surgery, University of Lund, Malmö General Hospital, Malmö, Sweden). Menarcheal age in girls with congenital dislocation of the hip. Acta Paediatr Scand, 66:241, 1977.—The age at menarche was recorded in a series of girls with congenital dislocation of the hip and compared with a control sample drawn from the population at risk. The menarcheal age of the CDH patients was decreased by, on average, six months, the decrease being caused by the presence among the CDH girls of a few individuals with a very early menarche. These girls were heavier and taller than other CDH girls, who in their turn, are taller and heavier than other girls. The findings support the concept of CDH as a manifestation of some hormonal deviation, which also causes early physical maturation.     

Fetal echogenic lung lesions: Prenatal ultrasound diagnosis and outcome

The differential diagnosis of echogenic areas in the fetal chest include congenital diaphragmatic hernia (CDH), cystic adenomatoid malformation (CAM), sequestrated lung and tracheal or bronchial atresia. The purpose of this study was to evaluate the accuracy of prenatal diagnosis and document outcome in fetuses with echogenic chest lesions. Seventeen fetuses with echogenic chest masses were seen in our unit between 17 and 36 weeks' gestation over a 5-year period. We reviewed these cases retrospectively for prenatal diagnosis, postnatal diagnosis and outcome. Prenatal diagnosis was correct in 13 fetuses, with CDH in 8, sequestrated lung in 4 and tracheal atresia in 1. Four fetuses had incorrect or uncertain prenatal diagnoses. In three fetuses CDH and CAM could not be differentiated. After delivery two of these had CDH and one had sequestrated lung. One fetus with bilateral lesions had prenatal diagnosis of bilateral CAM. Post-mortem examination revealed tracheal atresia as part of Fraser syndrome. All five babies with sequestrated lung are well and none required surgery. Ten fetuses had CDH, two pregnancies were terminated, one died in utero, five died as neonates and two babies survived following surgery. The study reveals that in a minority of fetuses CDH and CAM could not be differentiated prenatally. We agree with recent reports of fetal sequestrated lung describing sonographic improvement in utero. A large lesion on initial scan does not necessarily predict a poor neonatal outcome in this condition. This, together with the poor outcome in fetuses with echogenic CDH and tracheal atresia, has important implications for prenatal counselling.     

Pediatric chronic daily headache associated with school phobia

Background:  Children and adolescents with school phobia sometimes complain of severe and persistent headaches that are diagnosed as chronic daily headache (CDH).
Methods:  We investigated 24 children with CDH and school phobia, and 26 children with CDH but without school phobia.
Results:  Of 24 children with CDH and school phobia, 4% had chronic migraine (CM), 46% had chronic tension-type headache (CTTH) and 50% had both CTTH and migraine. However, of 26 children with CDH but without school phobia, 61% had CM, 24% had CTTH, 11% had CTTH and migraine, and 4% had new daily-persistent headache. There was a significantly higher rate of CTTH and both CTTH and migraine in children with CDH and school phobia than that in children with CDH but without school phobia ( P  < 0.0001). All of the 24 children with CDH and school phobia were found to have psychiatric disorders. Of 24 children, 71% were found to have adjustment disorders, 21% were found to have anxiety disorders, and 8% were found to have conversion disorder. Of 26 children with CDH but without school phobia, only 20% were found to have psychiatric disorders. There was a significantly higher rate of psychiatric disorders in children with CDH and school phobia than in children with CDH but without school phobia ( P  < 0.0001).
Conclusions:  Our study indicated that children with CDH and school phobia had problems in school and/or family and psychiatric disorders. They should be diagnosed and treated attentively not only for headaches but also for their psychosocial problems and psychiatric disorders.     

Etiology, pathogenesis and pathology of dysplastic hip dislocation

Neonatal hip examination and early therapy of CDH proofed to be best in preventing early osteoarthritis of the hip. Nevertheless we still happen to be confronted with congenital dislocated hips and hip dysplasias diagnosed after walking age. The pathologic changes of the dislocated hip joint are described.     

Postmortem Findings and Clinicopathological Correlation in Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is a severe life-threatening disease, with an incidence of 3 per 10,000 births, that can occur as an isolated defect or in combination with other congenital anomalies. We reviewed the clinical and autopsy reports of 39 subjects with CDH that were autopsied between 1988 and 2001 to determine whether autopsy had an additional value in the detection of malformations in patients with CDH. We compared the clinical data (including echographic results in some patients) concerning congenital anomalies with the autopsy results. Before autopsy, 6 structural cardiac defects, 3 anomalies of the urogenital system, and 3 anomalies of the digestive tract were observed in 10 patients (clinical and echographic results). However, with postmortem examination, only 4 structural cardiac defects were confirmed, 2 cases showed another cardiac anomaly, and 7 new cardiac defects were found. In the urogenital system, 1 anomaly was confirmed, 1 was not confirmed, and 1 showed another malformation. In addition, in 7 patients new urogenital malformations were found after autopsy. In the digestive tract, all 3 malformations were confirmed, but we found 3 new malformations after postmortem examination. All clinically established dysmorphic features and anomalies of the skeletal system and central nervous system were confirmed by autopsy, and no additional malformations were found. We concluded that postmortem examination has an important additional role in the detection of structural cardiac defects and malformations of the urogenital system and digestive tract in children with CDH.Marieke F. van Dooren and Natascha N.T. Goemaere both contributed equally to this article.     

Late-presenting congenital diaphragmatic hernia in children: a literature review

This is a review of 122 articles published until December 2003 that describe 349 children with late-presenting postero-lateral congenital diaphragmatic hernia (CDH). Data regarding pre-operative diagnostic work-up were adequately reported in 177 patients with left CDH and in 41 with a right-sided defect. Chest radiography was the only diagnostic study in 92 (51.9%) children from the former group and in 17 (43.9%) from the latter group. In other patients, diagnostic work-up encompassed various combinations of two or more imaging modalities. Apart from chest radiography, contrast study of the upper gastrointestinal tract was the most frequently performed imaging modality. In 88 (25.2%) children, initial radiographic features of CDH were misinterpreted. Pneumothorax and pleural effusion were the most common initial findings. Analysis of the hernial content in this group of patients has shown that herniation of the stomach, spleen or omentum should be regarded as risk factors for misdiagnosis of left CDH, whereas for right CDH, the risk factor is the presence of liver in the chest. Late-presenting CDH may pose a significant diagnostic problem because of the great variability of radiographic appearance. Chest radiography following passage of a nasogastric tube and contrast studies of the gastrointestinal tract seem to be the most useful investigations for the diagnosis of left CDH. For patients with right CDH, owing to the high probability of liver herniation, a chest radiograph with liver scintigraphy or CT seems to be the best diagnostic option.     

THE ROLE OF FINE NEEDLE ASPIRATION BIOPSY IN THE DIAGNOSIS AND MANAGEMENT OF OSTEOSARCOMA

We retrospectively reviewed our experience with fine needle aspiration biopsy (FNAB) in the diagnosis and management of skeletal osteosarcoma. The bi-institutional study sample involved 30 consecutive aspirates from 29 patients (28 primary tumors, 1 pulmonary metastasis, 1 local recurrence). There were 17 children and 12 adults. Two aspirates were unsatisfactory for diagnosis. Of the adequate primary osteosarcoma cases analyzed by FNAB, 24 of 26 were diagnosed as osteosarcoma. All pediatric cases were correctly interpreted as osteosarcoma and treated appropriately. There were 2 incomplete diagnoses. A secondary osteosarcoma arising within an otherwise clinically, radiologically, and histologically typical giant cell tumor (malignant giant cell tumor) was not diagnosed preoperatively on FNAB due to nonrepresentative sampling. Chronologically, the first patient with osteosarcoma analyzed by FNAB was diagnosed simply as "spindle cell neoplasm." No complications resulted from the procedure. With adequate clinical and radiologic correlation, FNAB represents a technically, easily performed, cost-effective, and accurate procedure for establishing the diagnosis of skeletal osteosarcoma. Immediate interpretation of aspirated material allows for therapy planning and oncologic consultation at the initial clinic visit.     

THE ROLE OF FINE NEEDLE ASPIRATION BIOPSY IN THE DIAGNOSIS AND MANAGEMENT OF OSTEOSARCOMA

We retrospectively reviewed our experience with fine needle aspiration biopsy (FNAB) in the diagnosis and management of skeletal osteosarcoma. The bi-institutional study sample involved 30 consecutive aspirates from 29 patients (28 primary tumors, 1 pulmonary metastasis, 1 local recurrence). There were 17 children and 12 adults. Two aspirates were unsatisfactory for diagnosis. Of the adequate primary osteosarcoma cases analyzed by FNAB, 24 of 26 were diagnosed as osteosarcoma. All pediatric cases were correctly interpreted as osteosarcoma and treated appropriately. There were 2 incomplete diagnoses. A secondary osteosarcoma arising within an otherwise clinically, radiologically, and histologically typical giant cell tumor (malignant giant cell tumor) was not diagnosed preoperatively on FNAB due to nonrepresentative sampling. Chronologically, the first patient with osteosarcoma analyzed by FNAB was diagnosed simply as "spindle cell neoplasm." No complications resulted from the procedure. With adequate clinical and radiologic correlation, FNAB represents a technically, easily performed, cost-effective, and accurate procedure for establishing the diagnosis of skeletal osteosarcoma. Immediate interpretation of aspirated material allows for therapy planning and oncologic consultation at the initial clinic visit.     

The Japanese experience with prenatally diagnosed congenital diaphragmatic hernia based on a multi-institutional review

Purpose

To review the recent Japanese experience with prenatally diagnosed congenital diaphragmatic hernia (CDH) based on a multi-institutional survey.

Methods

A multicenter, retrospective cohort study was conducted on 117 patients born between 2002 and 2007 with isolated prenatally diagnosed CDH. All patients were managed by maternal transport, planned delivery, immediate resuscitation and gentle ventilation. The primary outcome measurements were the 90-day survival and intact discharge. The examined prenatal factors included gestational age (GA) at diagnosis, lung-to-head ratio (LHR), lung-to-thorax transverse area ratio (L/T) and liver position. Physical growth and motor/speech development were evaluated at 1.5 and 3?years of age. Data were expressed as the median (range).

Results

The mean GA at diagnosis was 29 (17?C40) weeks. The LHR and L/T were 1.56 (0.37?C4.23) and 0.11 (0.04?C0.25), respectively. There were 48 patients with liver up. The mean GA at birth was 38 (28?C42)?weeks. The 90-day survival rate and intact discharge rate were 79 and 63%, respectively. Twelve patients had major morbidity at discharge, and 71% of these patients had physical growth or developmental retardation at 3?years of age.

Conclusion

This multicenter study demonstrated that the 90-day survival rate of isolated prenatally diagnosed CDH was 79%, and that subsequent morbidity remained high. A new treatment strategy is needed to reduce the mortality and morbidity of severe CDH.     

Nitrofen-induced diaphragmatic hernias in rats: pulmonary antioxidant enzyme activities.

We developed an experimental rat model of congenital diaphragmatic hernia (CDH) to elucidate the etiology and pathogenesis of this serious congenital anomaly in humans and in particular to study the effects of a short period of artificial ventilation on the CDH lung in relation to antioxidant defense mechanisms. CDH was induced in about 60% of the offspring by maternal exposure to 2,4-dichlorophenyl-p-nitrophenylether (Nitrofen) during pregnancy. This herbicide resembles thyroid hormone in chemical structure. The lungs of fetal rats (d 19, 20, 21, and 22) were examined for protein and DNA content and activity of superoxide dismutase, catalase, and glutathione peroxidase (GPX). The same parameters were assessed in tracheotomized newborn rats after pressure-controlled artificial ventilation with either room air or pure oxygen during a short period of 5 h. In both CDH rats and controls, wet lung weight increased during gestation. At term, CDH rats had significantly lower mean lung weights than controls. Neither group differed in protein and DNA content per mg lung or superoxide dismutase, catalase, and GPX activity before and at birth. After artificial ventilation of neonates with air and pure oxygen, superoxide dismutase activity tended to decrease, whereas catalase activity remained virtually unchanged in the CDH lung. However, GPX activity in the CDH lung was reduced to 80% of initial activity at term after ventilation with air and to 70% with pure oxygen. The present finding of a decline in GPX activity in this animal model after a short period of artificial ventilation may indicate that the CDH rat neonate is at risk to develop oxygen-related lung damage.     

Gastroesophageal reflux and diaphragmatic motility after repair of congenital diaphragmatic hernia.

At the Department of Pediatric Surgery in Graz, 31 boys and 23 girls were operated on for congenital diaphragmatic hernia (CDH) from 1978 to 1994. In 49 patients the defect was on the left, in five on the right side. In 46 cases, the hernia was diagnosed within the first week of life; in eight children at a later date. 19 children (35%) died. 25 of the 35 survivors (71%) came to a follow-up examination on average 9.4 (1-17) years after the operation. 24 h pH-monitoring or manometry and Upper G.I. series revealed pathological gastroesophageal reflux (GER) in 16 patients. Nine children were treated conservatively; in seven patients an antireflux procedure was performed. A thoracic position of the stomach or left liver lobe, presence of a hernial sac, gestational age, prenatal diagnosis, use of a patch or severity of lung hypoplasia did not significantly influence the incidence of GER. In three patients, a hiatal hernia was found. The motility of the diaphragm was documented with M-mode sonography (n = 18); a restricted motility could be demonstrated in five patients. GER is very common in patients after repair of CDH. We recommend long-term follow-up with special interest in respect of GER.     

A case of congenital diaphragmatic hernia with intradiaphragmatic pulmonary sequestration: case report and literature review

Extralobar pulmonary sequestration (EPS) can occasionally be found incidentally in congenital diaphragmatic hernia (CDH). Extralobar pulmonary sequestration usually arises in the chest or the abdomen; rarely in the diaphragm. We report a neonatal case of antenatally diagnosed CDH associated with intradiaphragmatic EPS.     

骨髓活检对小儿急性白血病疗效判定的临床意义

研究骨髓活检在小儿急性白血病治疗观察的临床应用。采用骨髓活检改良制片法对 5 0例急性白血病患儿在诱导治疗 2疗程后第六天施行骨髓涂片和活检 ,分别作定量观测 ,并进行对比分析。骨髓活检异常原始细胞计量 (MABA)与骨髓涂片原幼细胞百分率 (MBP)相关 ,但有不同。继续治疗观察 ,MABA少量 1 3例全部缓解 ,中量组缓解 2 1 / 2 3,多量组缓解 1 1 / 1 4且有 5例半年内复发 ,三组差别显著 P<0 .0 5 )。提示骨髓活检 MABA检测 ,对小儿急性白血病疗效和预后评估意义显著 ,特别对于难治和复发的病例