Comparison between bone marrow transplantation and antithymocyte globulin in treatment of young patients with severe aplastic anemia

Fifty-seven patients younger than 25 years with severe aplastic anemia underwent either bone marrow transplantation or antithymocyte globulin therapy (ATG) to ascertain which approach should be used in young patients. Thirty-five patients who had an HLA-identical sibling donor underwent bone marrow transplantation after conditioning with cyclophosphamide and low-dose total-body radiation. Twenty-two patients who did not have an HLA-identical donor received ATG. The 2-year actuarial survival of patients after transplant is 72% (95%, CI 64% to 80%), versus 45% (95%, CI 29% to 61%) in those given ATG therapy (P = 0.18). In those patients surviving 6 months after treatment, return of peripheral blood counts to normal values was more common in patients who received marrow transplant compared with those given ATG therapy (P less than 0.001). Furthermore, 24 of 26 transplant survivors had Karnofsky performance scores greater than 90%, compared with only five of 13 ATG survivors. These data suggest that bone marrow transplantation is the preferred therapy for severe aplastic anemia in young patients who have an HLA-identical sibling donor. ATG should be reversed for those young patients with severe aplastic anemia who do not have a histocompatible marrow donor.     

The spectrum of Cantrell's syndrome

Eight patients representing the entire spectrum of Cantrell's syndrome are presented. While a combined diaphragmatic and pericardial defect is an essential feature of the syndrome, other manifestations form a continuum ranging from innocent upper abdominal midline defects to the full-blown pentalogy sometimes incompatible with life. In only two cases was the diagnosis established preoperatively. One patient presented uniquely with bilateral chylothoraces. Clinical suspicion, plain chest roentgenograms, and ultrasonography proved the most definitive diagnostic aids. Two patients died early due to their severe cardiac malformations. Six children are alive 16 months to 23 years postoperatively. Seven patients underwent operative correction of their defects. A primary repair of the abdominal and diaphragmatic lesions was performed trans-abdominally or via a sternotomy in all but one case. Two patients had late repairs of their intracardiac defects. Although rare, Cantrell's syndrome must be actively sought in every patient with an omphalocele or an atypical diaphragmatic hernia. These patients need a full cardiac evaluation before operation. The Diaphragmatic defect must be recognized and repaired before closure of the omphalocele. The prognosis depends mainly on the cardiac lesion. Offprint requests to: K. Vanamo     

Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status

Aim: The aims of the study were to assess shoulder range of motion (ROM) in patients with mucopolysaccharidosis type II (MPS II) and to correlate joint mobility with patients’ height, age and functional status. Methods: Passive ROM and Z‐score of height were followed in 29 patients with MPS II (mean age 11.5 years, range 2–29 years) between the years 2005 and 2010. Passive ROM was measured by a goniometer, and height, by a stadiometer. Functional status was assessed by an age‐appropriate health assessment questionnaire (HAQ). Results: (i) A strong correlation was observed between patients’ age and Z‐score of patients’ height (R = 0.78, p < 0.001). (ii) A medium correlation was observed between Z‐score of patients’ height and passive shoulder flexion and abduction (R = 0.697, p < 0.001 and R = 0.63, p < 0.001, respectively). The progression of restriction was slower in attenuated patients. (iii) Restrictions in shoulder flexion and abduction were already observed before the second year of life. (iv) ROM limitations intensified and became more severe with age. (v) Activities of daily living depended on cognitive impairment of patients with MPS II. Conclusion: Range of motion limitations in patients with MPS II correlate with patients’ height, increase with patients’ age and are more pronounced in a severe form of MPS II.     

Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach

Two patients with incomplete pentalogy of Cantrell are described. The first was a girl with a large omphalocele with evisceration of the heart, liver and intestines with an intact sternum. Echocardiography showed profound intracardiac defects. The girl died 33 h after birth. The second patient was a female fetus with ectopia cordis (EC) without intracardiac anomalies; a large omphalocele with evisceration of the heart, stomach, spleen and liver; a hypoplastic sternum and rib cage; and a scoliosis. The pregnancy was terminated. A review of patients described in the literature is presented with the intention of finding prognostic factors for an optimal approach to patients with the pentalogy of Cantrell. In conclusion the prognosis seems to be poorer in patients with the complete form of pentalogy of Cantrell, EC, and patients with associated anomalies. Intracardial defects do not seem to be a prognostic factor. Statement of financial support: no financial assistance was received.     

Religion in patients with advanced cancer

Data on religious belief, activity, and connections, and ratings of happiness, life satisfaction, and pain level were obtained periodically from 71 patients with advanced cancer. Religious belief showed substantial positive correlation with life satisfaction, and religious activity and connections were significantly correlated with both happiness and life satisfaction. Religious patients also reported significantly lower levels of pain, even though they were no less likely to report the presence of pain. Data from the 36 patients who have since died show no correlation between the religion variables and duration of survival. In general, the patients showed little change in religious belief over time. Religion seems to be an important source of support for many patients.     

Abnormal development of fourth aortic arch derivatives in the pathogenesis of tetralogy of Fallot

Summary Aortic arch (AoA) anomalies were studied in 233 patients with tetralogy of Fallot (TOF) of whom some had coexisting pulmonary atresia (PA). There was a 23% incidence of a right AoA in patients without PA, 21% in those with both PA and persistent ductus arteriosus (PDA), and 50% in those with PA and major aortopulmonary collateral arteries (MAPCAs). There was a 5% incidence of an aberrant subclavian artery in patients without PA and a 16% incidence in those with PA and MAPCAs. In this cohort an elongated ascending aorta was observed both with and without high aortic arch. These aortic arch anomalies were frequently associated with PA and MAPCAs.     

Treatment of rhabdomyosarcoma in children with surgery,radiotherapy and chemotherapy

From May, 1970 through December, 1972, Children's Cancer Study Group entered 112 patients on an amended treatment program for rhabdomyosarcoma and undifferentiated sarcoma in children. These patients had Group II disease with residual tumor remaining after surgery, or metastatic disease at onset. Another group consisted of patients who previously had treatment with surgery and radiotherapy and had recurrent disease. Cyclophosphamide was added to a previously used drug regimen which consisted of actinomycin D and vincristine. The drugs were given sequentially in repeated cycles for 18 months. Of 97 evaluable patients, there were 24 with microscopic residual disease, 37 with gross residual disease, 22 with metastatic disease at onset, and 14 patients who were treated with chemotherapy for the first time with recurrent or metastatic disease. All patients have been followed for 3 or more years. Survival in each group was 70.8%, 43.2%, 27.2%, and 28.2%, respectively. Although the number of complete remissions was greater than with two-drug therapy, survival with three-drug therapy was not significantly different than that seen in the earlier study.     

Tumors of Bilateral Streak Gonads in Patients with Disorders of Sex Development Containing Y Chromosome Material

The presence of Y chromosome material in patients with disorders of sex development (DSD) has been associated with a high risk of gonadoblastoma. Therefore, gonadectomy is recommended in females with bilateral streak gonads and Y chromosome material. The aim of this study was to present our experience with prophylactic gonadectomy in those patients and evaluate their risk of gonadal tumors. We reviewed the charts of 11 female patients who had bilateral gonadectomy (by laparoscopically in 9 patients, by laparotomy in 2 patients) between 1991 and 2012 at our hospital. Seven patients with Turner syndrome (TS) who carry a Y mosaic karyotype in peripheral blood, 3 patients with Swyer syndrome and one patient with Frasier syndrome were included. All patients had an unambiguous female phenotype. Age at surgery and follow-up ranged from 2 to 23 (mean 11) and 0.5 to 20 (mean 8) yr, respectively. Pathologic examination revealed gonadal tumors in 6 of 11 patients (56%), including 4 with TS, the youngest of which was 2 yr old, one with Swyer syndrome and one with Frasier syndrome. A gonadoblastoma was detected in 8 gonads, and an association of dysgerminoma with gonadoblastoma was detected in 2 gonads. Imaging studies showed no metastasis, and the postoperative course was uneventful in all patients. In our series of DSD patients with bilateral streak gonads and Y chromosome material, the risk of gonadal tumor was high. Considering the early occurrence of gonadoblastoma and its high potential for malignant transformation, early prophylactic gonadectomy is strongly recommended.     

Sequelae of acquired cytomegalovirus infection in premature and sick term infants

To assess the risk of long-term sequelae after acquired cytomegalovirus (CMV) infection in premature and sick term infants, 55 CMV infected patients were matched prospectively with 55 control patients and these matched pairs were evaluated at 3 years of age. Sensorineural hearing losses were present in four of 43 CMV infected patients (all mild-moderate) and in two of 43 controls (one severe). The incidence of neurologic sequelae was not increased in CMV infected patients with birth weight greater than 2000 gm. Among patients with birth weight less than 2001 gm, moderately abnormal EEGs were found in four (17%) of 23 CMV infected patients and in one (4%) of 23 controls, and severe handicaps occurred in four (14%) of 29 CMV infected patients and in two (7%) of 29 controls. Severe handicaps in premature infants were significantly (P less than 0.05) associated with early onset of CMV excretion (less than 8 weeks of age) and severe cardiopulmonary disease. Among the premature infants who were documented early excretors, three of 13 had severe neuromuscular impairment, four of 13 had severe handicaps (DQ less than 70, severe neuromuscular impairment, or profound loss of vision or hearing), and an additional four had DQs of 70 to 79. Among their matched control subjects, none of 13 had severe neuromuscular impairment, two of 13 had severe handicaps, and an additional two had DQs between 70 and 79. None of the premature infants who were documented late excretors (greater than or equal to 8 weeks of age) had any neurologic sequelae. The risk of neurologic sequelae and handicap may be increased in premature infants with onset of CMV excretion in the first 2 months of life.     

Studies of anabolic steroids. VI. Effect of prolonged administration of oxandrolone on growth in children and adolescents with gonadal dysgenesis.

Twenty-five patients with Turner Syndrome were treated with oxandrolone for six or more months. Mean growth velocity for the first year of treatment was significantly greater than pretreatment control growth velocity. Overall, there was no excessive skeletal maturation. Mean "final" height in nine XO patients (146.4 cm) was significantly greater than mean adult height of an estrogen-treated control group (140.3 cm), while that for five mosaic patients (148.2 cm) was not significantly different from a mean untreated mosaic adult height (145.2 cm).     

三合一骨融合术在儿童先天性胫骨假关节联合手术中的应用

目的 探讨采取联合手术同时行三合一骨融合术治疗儿童腓骨完整型先天性胫骨假关节的短期疗效.方法 回顾性分析2014年3月至2015年8月采取联合手术(切除胫骨假关节及病变组织、经足踝髓内棒固定、伊氏架外固定装置加压固定)的同时,行三合一骨融合术(腓骨近端截骨、胫骨假关节远近二个骨端与局部完整的腓骨三者融合、取自体髂骨包裹式植骨)治疗17例腓骨完整型先天性胫骨假关节患儿的临床资料.17例均为单侧,术时平均年龄为3岁(1.1～7.7岁).其中,男12例,女5例;左侧7例,右侧10例.3岁以下者10例(占59％),2例既往有1次胫骨假关节手术史;均伴腓骨完整.伴有胫骨近端发育不良4例,1型神经纤维瘤病10例;11例患儿存在胫骨短缩,胫骨平均短缩1.6 cm (0.3～3.4 cm).术中行腓骨近端截骨、切除胫骨假关节及病变组织、经足踝髓内棒固定、伊氏架外固定装置加压固定、胫骨假关节二个骨端与腓骨融合、取自体髂骨包裹式植骨,2例同时行胫腓骨截骨延长.初步评价胫骨假关节患儿的早期愈合率,再骨折发生率,踝外翻、胫骨不等长和胫骨外翻等后遗畸形的发生情况.结果 本组平均手术时间4.1 h(3.3～4.2 h).所有患儿均获得完整随访,平均随访时间19.5个月(9～26个月).17例患儿均实现初期愈合,平均愈合时间4.9个月(4.1～7.8个月),初期愈合率为100％.13例(76％)患儿存在胫骨不等长,平均胫骨不等长1.2 cm(0.5～2 cm);6例(35％)患儿发生胫骨近端外翻,平均外翻7.8°(5～16°),均行胫骨近端内侧“8”字形钢板螺钉半侧骺板阻滞术予以矫正;2例患儿发生踝外翻,分别为12°、17°.术后胫骨假关节愈合区域的横断面积平均增大至胫骨远近端骨干处横断面积的1.74倍(1.14～2.60倍).17例患儿均未发生再骨折.5例患儿恢复踝关节活动,平均背伸22°(20～30°),平均跖屈41°(40～50°);另外12例踝关节仍固定于中立位.结论 在联合手术同时行三合一骨融合术治疗伴腓骨完整的先天性胫骨假关节初期愈合率高,胫骨假关节愈合处横断面积增加,短期疗效良好.     

Sagittal spinal alignment in patients with Legg-Calve-Perthes disease

BACKGROUND: Legg-Calve-Perthes disease (LCPD) is an avascular necrosis of the capital femoral epiphysis in children. Several studies found a pathophysiological relationship between LCPD and juvenile Scheuermann's kyphosis, suggesting an abnormal spinal condition related to osteochondrogenesis. In the present study sagittal spinal alignment of the patients with LCPD was analyzed to examine associated spinal involvement. METHODS: A standing lateral radiograph of the spine was evaluated in 78 patients who had a history of LCPD. Various parameters of sagittal spinal alignment, including thoracic kyphosis (TK), lumbar lordosis (LL), sacral inclination (SI), apex of thoracic kyphosis (TK-apex) and lumbar lordosis (LL-apex), and sagittal balance (SB; positive SB values represent a sagittal balance in front of the sacrum) were measured and compared between the patients with and without vertebral abnormalities. RESULTS: Compared to previously published normative data, relatively decreased LL was evident in LCPD. Most of the patients (65%) had negative SB, which was correlated with decreased SI, more proximal TK-apex, and more distal LL-apex. Vertebral abnormalities including end-plate irregularities and wedging vertebrae were observed in 20 patients. Decreased SI, more distal LL-apex, and more negative SB were remarkable in the patients with vertebral abnormalities. CONCLUSIONS: The patients tended to stand in greater negative sagittal balance associated with decreased LL. The characteristic sagittal alignment was prominent especially in the patients with vertebral abnormalities. Wedging vertebrae, probably due to growth disturbance of the vertebral bodies, could result in decreased LL, which leads to posterior pelvic tilt and posterior shift of sagittal balance.     

Noninvasive assessment of surgical systemic to pulmonary artery shunts by range-gated pulsed Doppler echocardiography.

Suprasternal range-gated pulsed Doppler echocardiography was used to evaluate surgical shunt patency in children with cyanotic congenital heart disease and right ventricular outflow obstruction following systemic artery to pulmonary artery anastomoses. Normal patients had laminar Doppler auditory signals and time interval histogram flow patterns because right pulmonary artery turbulence was not present during systole or diastole. Patients with pulmonary valvar stenosis had turbulence during systole only. In all nine postoperative patients with surgical shunts, turbulent systolic and diastolic time interval histograms and abnormal auditory signals were present. A typical shunt murmur was not audible to auscultation in six of the postsurgical patients at the time of the study. Suprasternal range-gated pulsed Doppler echocardiography affords an accurate, safe and simple noninvasive bedside means for confirming shunt patency in patients who have undergone surgical systemic artery to pulmonary artery anastomoses.     

Anaesthesia for liver transplantation in two infants with an organic acidaemia

Liver transplantation is an accepted option of treatment in patients with inborn errors of metabolism limited to or mainly located into hepatocytes who have not responded well to medical treatment. Recurrent metabolic failure and neurological impairment might be an indication for early transplantation in patients with organic acidaemias. We discuss the anaesthetic management and metabolic implications of acidaemia in the first two cases of successfully treated propionic and methylmalonic acidaemia in Italy. A nine and 12 month follow up did not show any further metabolic failure after the procedure, indicating that early liver transplantation improves the quality of life of these patients.     

The role of adenoviruses in the pertussis syndrome.

To define the role of adenoviruses in the pertussis syndrome, a study was done of a group of 134 children with clinical pertussis and a healthy control population of similar age, race, sex, and socioeconomic status. Adenovirus infections occurred in 30 (22.4%) of 134 patients with the pertussis syndrome and 5 (4.9%) of 101 control subjects (p smaller than 0.001). B. pertussis was recovered from 46 (34.3%) patients, and from 18 (39.1%) of these patients adenoviruses were also isolated. Although adenovirus infections also occurred in patients with the pertussis syndrome with negative cultures for B. pertussis, the rate, 12 of 88 patients (13.6%), was significantly lower (p smaller than 0.001). The clinical course was similar irrespective of the results of bacterial or viral cultures. These data substantiate the frequent association of adenoviruses with the pertussis syndrome, It would appear that adenoviruses do not usually have an independent role in the pathogenesis of the pertussis syndrome since we found them so commonly to be one agent in a mixed infection.     

苯丙酮尿症患者生活质量研究进展

苯丙酮尿症是常见的先天性氨基酸代谢缺陷疾病,其遗传方式为常染色体隐性遗传,已经列入我国新生儿遗传代谢病筛查项目.早期筛查的普及和及时的治疗使得患者躯体症状得以改善,但仍会对远期社会功能以及心理发展产生不同程度的影响.随着医疗模式的改变,以心理和社会功能为主要内容的生活质量研究受到关注.目前国内外学者主要采用普适性量表和特异性量表等评估方法研究苯丙酮尿症对生活质量的影响,大部分研究结果表明早期、及时和长程的治疗有利于提高患者的生活质量水平.该文从苯丙酮尿症患者生活质量的评价方法、影响因素以及研究现状进行综述,对了解苯丙酮尿症患者生活质量现状、指导临床治疗以及判断预后具有重要意义.     

Incompetent lower esophageal sphincter and gastroesophageal reflux in recurrent acute pulmonary disease of infancy and childhood

Fifteen patients with recurrent acute respiratory symptoms were evaluated for gastroesophageal reflux. All 15 had barium esophagrams. Ten of 15 had acid reflux tests performed and lower esophageal sphincter pressures measured. The data were compared to those in 23 patients with no acid reflux and 23 patients with positive acid reflux but no respiratory symptoms. Ten of ten patients with respiratory symptoms who were evaluated by the acid reflux test had positive results. The remaining five demonstrated GER by barium esophagram. LES pressure measurements in the ten patients were 11.3 +/- 1.5 mm Hg, which was significantly lower than the pressures in the acid reflux-negative group (20.3 +/- 1.3 mm Hg, P less than 0.001) but not different than in the patients with GER but no respiratory symptoms (13.9 +/- 1.5 mm Hg, P greater than 0.05). GER secondary to an incompetent lower esophageal sphincter may be one cause of recurrent acute respiratory disease in infants and children.     

An inherited defect of neutrophil mobility in Shwachman syndrome.

Selected immunologic functions were assessed in 14 patients with the Shwachman syndrome. Nine patients were neutropenic and four had low levels of IgA or of IgM. Neutrophil mobility was significantly defective in the group of patients as a whole (in 12 it was below the lower limit of normal) and in their parents. No other consistent abnormality in immunity was found. These results suggest that the defective neutrophil mobility is a feature of Shwachman syndrome which may contribute to the vulnerability of these patients to frequent infections. The defect appears to be a primary genetic one, inherited as an autosomal recessive characteristic consistent with the assumed inheritance of Shwachman syndrome.     

The influence of chemotherapy on the prognosis of rhabdomyosarcoma

A study of 77 consecutive cases of childhood rhabdomyosarcoma treated initially at the Children's Hospital of Los Angeles from 1950 to 1972 demonstrated an impressive improvement in survival of patients when intensive chemotherapy was combined with surgery and radiation therapy. The major improvement in survival occurred in Stage II and Stage III disease. Eight out of 9 patients with a primary lesion of the lower extremities developed intra-abdominal disease. A general approach for treatment of Stage II, III, and IV rhabdomyosarcoma is proposed which involves intensive chemotherapy, following biopsy, as the principle treatment, with radiation and surgery used as adjuvants.     

Iron malabsorption in giardiasis

Among 10 children with giardiasis, eight had iron deficiency; iron deficiency anemia was the main complaint in three. Evaluation of iron absorption by the oral iron load test demonstrated a subnormal response (i.e., increase in serum iron levels of less than 100 micrograms/dl) in all eight patients with iron deficiency. In contrast, in two iron-sufficient patients with giardiasis the response to an oral iron load was normal. Xylose absorption was abnormal in five of the 10 patients. After metronidazole dosing, iron absorption became normal in seven patients but remained abnormal in one patient, who also had IgA deficiency. Xylose absorption became normal in all five patients who underwent a second test, but remained abnormal in the patient with IgA deficiency. Concomitant morphologic-studies of jejunal biopsy material from these patients revealed moderate changes in the intestinal mucosa of two patients. We conclude that malabsorption of iron is a complication of giardiasis.