联合阿糖胞苷治疗难治性朗格汉斯细胞组织细胞增生症临床分析

目的评估联合阿糖胞苷(Ara-C)治疗儿童难治性朗格汉斯细胞组织细胞增生症(LCH)的疗效。方法回顾分析确诊难治性LCH且采用联合Ara-C化疗患儿的临床资料,评估疗效。结果共11例难治性LCH患儿,男性6例、女性5例,中位诊断年龄22个月(5~157个月),中位随访时间32个月(17~75个月)。所有患儿均为多系统LCH(MS-LCH)。经一线治疗,9例患儿疾病进展(8例为骨骼进展),2例病情稳定。所有患儿经联合Ara-C化疗,总体好转率91%(1例痊愈,9例好转,1例处于稳定状态),总体生存率100%。10例中枢神经系统(CNS)受累患儿,9例首诊时伴CNS肿块影,治疗后5例CNS肿块完全消退。2例患儿有后遗症,均为尿崩症。结论联合Ara-C化疗治疗难治性LCH的反应率高,对伴CNS受累者,亦有较好疗效。     

A Follow-up Study of Children with Neonatal Herpes Simplex Virus Infections with Particular Regard to Late Nervous Disturbances

Forty-five children with neonatal herpes simplex virus (HSV) infection, representing all known cases in the diagnostic records of four virological laboratories within a 15-year period, were followed up. Twelve children had died. Sixteen of the 33 survivors were healthy. Thirteen children had severe disabilities: all of them showed severe mental retardation; moreover, 11 were tetraplegic, one was hemiplegic with hydrocephalus and one had a pronounced behavioural abnormality. Four children had slight to moderate disabilities: one child was mildly mentally retarded and three, although mentally normal, had hemiplegia and delayed speech development, one of them having a learning disorder as well. Of these 17 neurologically impaired children 16 had ophthalmological abnormalities. EEG recordings were made in 29 patients in the neonatal period. They were markedly abnormal in 24 patients, 14 of whom had localized periodic complexes. An abnormal EEG was a bad prognostic sign. The neurological outcome was better in the HSV-l-infected children (10 cases) than in the HSV-2-infected ones (35 cases). Progressive or recurrent encephalitis was strongly suspected in two preterm children.     

Brucellar arthritis of knee in a child

A 15-month-old boy was admitted with fever and a swollen knee. His mother had been treated for brucellosis 11 months ago. At that time he had been asymptomatic and had both negative blood culture and serum agglutination tests and breastfeeding had been stopped. The infant had been healthy since then. On admission, blood and joint fluid were obtained for culture and he was commenced on cefuroxim. Gram-negative coccobacillary organisms were seen in the joint fluid. Both cultures remained sterile. He had a positive serum agglutination test with a titer of 1/640. Cefuroxim was then stopped and the child was commenced on a specific course of treatment: gentamicin, trimethoprim-sulfamethoxazole and rifampicin. The infant recovered with this treatment. We conclude that this was brucellar arthritis of the knee and was probably acquired by breastmilk after an exceptionally long incubation period.     

Prevalence of metabolic syndrome and obesity in renal transplanted Mexican children

Abstract:  The purpose of the study was to evaluate the prevalence of MS and obesity in Mexican children with more than one yr post-renal transplantation. Thirty-two children transplanted between January 2004 and February 2006 were included in the study. The weight and height at the time of renal transplant were obtained. A fasting blood sample was drawn for serum creatinine, adiponectin, and complete lipid profile, and a three-h glucose tolerance test was also taken. A complete nutritional evaluation was performed including anthropometry. There was a statistically significant increase in BMI at one yr post-transplant that was maintained at two yr post-transplant. Three patients exhibited obesity and were overweight. Seventeen patients had hypertension, 14 patients had low HDL, 12 patients had hypertriglyceridemia, all had normal fasting glucose, six of them had glucose intolerance, and two had waist circumference higher than 90%. Eight patients (25%) had MS. Patients with MS had higher proportion of deceased donor grafts, acute rejection episodes, and received more methylprednisolone pulses; also they had a statistically significant higher pretransplant BMI than patients without MS. There was a significant relationship between BMI at one yr post-renal transplant and creatinine clearance estimated by Schwartz formula.     

CHROMOSOMAL CONDITIONS IN CONGENITAL HEART DISEASE

Chromosome studies were made in 100 patients with congenital cardiovascular disease. Twelve patients had Down's syndrome with trisomy G. Four patients had Turner's syndrome with karyotype 45/XO. In one patixt, isozhromosomy or pericentric inverrion of the Y chromosome was found, and was also found in the paternal grandfather, the father and the brother, none of whom had malformations. One patient who also had severe extracardiac malformations, had partial trisomy of a group C chromosome and translocation C/D. Trans-location C/D was found in the father and sister, who were phenotypically normal. In the remaining 82 patients, normal chromosomal conditions were found, although 2 patients had presumably insignificant chromosomal variations.     

Ocular and systemic findings associated with optic disc colobomas

PURPOSE: To determine the ocular and systemic anomalies associated with optic disc colobomas. PATIENTS AND METHODS: The records of patients with a diagnosis of isolated optic disc coloboma and chorioretinal coloboma with optic disc involvement were retrospectively reviewed. RESULTS: Fifteen patients were included in the study. Of the 30 eyes, the optic disc and choroid were involved in 18, an isolated disc coloboma was present in 5, a normal optic disc was present in 4, and the optic disc could not be identified because of extreme microphthalmia in 1. Of the optic discs outside the fundus colobomas, 1 had an abnormal shape and 1 had optic atrophy and hypoplasia. Eight patients had bilateral but asymmetric involvement of the optic nerve with the coloboma. Fourteen eyes of 9 patients were microphthalmic. Nine eyes of 6 patients had microcornea. One patient had a nonrhegmatogenous retinal detachment at the time of diagnosis. One eye had a retrobulbar cyst with microphthalmia. Eight (53%) of the patients had sensory strabismus. Two patients had unilateral cortical lens opacities. Associated systemic findings were present in 6 (40%) of the 15 patients. CONCLUSIONS: Optic disc colobomas have a wide variety of presentations. Poor visual acuity was observed mostly in eyes with macular involvement and microphthalmia.     

Langerhans cell histiocytosis: the case for conservative treatment.

Fifty eight children with Langerhans cell histiocytosis who were referred to this hospital between 1980 and 1987 were studied. Fourteen had single system disease, and 44 had multisystem disease, of whom 22 had vital organ dysfunction. A conservative approach to treatment was adopted, and when systemic treatment was indicated a short course of prednisolone was used first. Eight of the patients with single system disease required no treatment, while six received local treatment alone. Eight of the patients with multisystem disease did not require systemic treatment, 17 were given prednisolone alone, and 19 were given cytotoxic drugs. Of the 14 with single system disease 13 had no long term after effects. Eight of the patients with multisystem disease died, 24 had long term after effects, and 12 had none. Outcome was related to age and Lahey score. These results compare favourably with other series in which more aggressive approaches were used, and support our conservative approach to treatment.     

Cyclical combination chemotherapy and thyroid function in patients with advanced hodgkin's disease

Clinical and biochemical assessment of thyroid function was undertaken in patients with Hodgkin's disease at designated points following diagnosis. At diagnosis, two of 20 patients had either abnormally low routine thyroid indices, or elevated thyroid stimulating hormone (TSH) levels that were not due to iodine-based investigations. Following lymphography, 76.5% of patients had TSH levels that remained elevated for a median period of 3 months. No detectable thyroid dysfunction was induced during chemotherapy. Fifty-four patients were studied at a median time of 35 months after chemotherapy. One euthyroid patient had a nodular goitre, and one had abnormal thyroid indices. TSH levels were elevated in 44% of patients, although the median TSH level for the group was normal. Half the patients had abnormal TRH stimulation tests. Sixty patients were studied after irradiation and chemotherapy. Four patients had clinical thyroid dysfunction, and 10% of routine thyroid indices were abnormal. TSH levels were abnormal in 80%, with a markedly elevated median level. All thyroid releasing hormone stimulation tests were abnormal.     

Nutrition, Infection, and Morbidity in Leukemia

Seven of the 25 children with acute leukemia were malnourished on admission. Of the 11 children who presented with fever, 6 had protein energy malnutrition and a bacterial infection was confirmed. They had a lower total leucocyte count. Out of 18 well-nourished children, 5 presented with a fever and the causative organism was isolated in 1 patient. There were more patients with a palpable liver in the malnourished group, and they had a high morbidity due to infections during remission induction.     

A follow-up study of children with neonatal herpes simplex virus infections with particular regard to late nervous disturbances.

Forty-five children with neonatal herpes simplex virus (HSV) infection, representing all known cases in the diagnostic records of four virological laboratories within a 15-year period, were followed up. Twelve children had died. Sixteen of the 33 survivors were healthy. Thirteen children had severe disabilities: all of them showed severe mental retardation; moreover, 11 were tetraplegic, one was hemiplegic with hydrocephalus and one had a pronounced behavioural abnormality. Four children had slight to moderate disabilities: one child was mildly mentally retarded and three, although mentally normal, had hemiplegia and delayed speech development, one of them having a learning disorder as well. Of these 17 neurologically impaired children 16 had ophthalmological abnormalities. EEG recordings were made in 29 patients in the neonatal period. They were markedly abnormal in 24 patients, 14 of whom had localized periodic complexes. An abnormal EEG was a bad prognostic sign. The neurological outcome was better in the HSV-1-infected children (10 cases) than in the HSV-2-infected ones (35 cases). Progressive or recurrent encephalitis was strongly suspected in two preterm children.     

Repair of anorectal anomalies in the neonatal period

In a 3-year period between 1986 and 1988, 147 patients with anorectal anomalies were seen in our department; 93 were neonates, of which 35 had low malformations treated by anoplasty soon after birth. Fifty-eight had high and intermediate types; 26 of these had defunctioning colostomies. One of the 26 patients had the definitive repair done in the neonatal period, the other 32 were operated on with posterior sagittal anorectoplasty (PSARP) as a one-stage procedure in the neonatal period. The majority (85%) were operated on within 4 days of birth. There was no operative mortality. The commonest complication was wound infection, which was mild in 15 patients and severe in 2. There were no anal strictures. The functional results were good in 30 and average in 3 patients. A comparison with 60 older children who had a similar operation done as a staged procedure in the same period showed equally low morbidity and good functional results. Based on these results, it was found that one-stage repair of high and intermediate types of anorectal anomalies in the neonate using PSARP is safe and feasible.     

A retrospective study of juvenile chronic arthritis

During a 20 year period 214 patients had been admitted to a teaching hospital with a diagnosis of definite or possible juvenile chronic (rheumatoid) arthritis (JCA). Eighty-seven of these patients were reviewed clinically and were classified as having had JCA. Twelve of the 214 patients were later thought to have had rheumatic fever, while 12 had had an illness consistent with viral arthritis.
There was a poor functional outcome in three subgroups of JCA: (i) seropositive polyarticular onset, (ii) systemic onset, and (iii) pauciarticular onset, extending to polyarticular involvement.
The prevalence of inflammatory eye disease was very low with no significant visual handicap detected in patients in this study.     

Lumbar punctures in suspected bacterial meningitis: Too many or too few?

Children aged 1 month to 14 years admitted to the Royal Alexandra Hospital for Children during a 10 month period with suspected meningitis were studied prospectively. The aims were to determine how often lumbar puncture (LP) was delayed or never done, in relation to the outcome of all children, in order to determine the risks of LP and the risks of not doing LP. Of 218 children with suspected meningitis, LP was performed immediately in 195 (89.4%). Meningitis was diagnosed in 49 of these (bacterial 18, viral 31). No child developed cerebral herniation due to immediate LP. There were 11 traumatic taps and two children required repeated attempts. Lumbar puncture was delayed, but performed at a later time in 17 children, of whom three had proven bacterial meningitis, 1 had presumed bacterial meningitis but no organism was detected and 13 had alternative diagnoses. Six children never had an LP, although ventricular cerebrospinal fluid was obtained from two Four of these six children had presumptive bacterial meningitis, one had tuberculous meningitis presenting with acute hydrocephaius and diagnosed post-mortem, and one had a very poor neurological outcome and no final diagnosis was reached. Of the 27 children with bacterial meningitis, LP was performed immediately in 18, or two-thirds. There were only minor adverse effects of immediate LP. Delayed LP probably resulted in failure to identify the organism in one child with bacterial meningitis, but did not adversely affect outcome in any child. Of the six children in whom LP was never performed, in only one was no final diagnosis reached. There was no evidence of excessive morbidity attributable to performing too many or too few lumbar punctures.     

A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome

Four unrelated patients who had the clinical appearance of Miller-Dieker syndrome, also called lissencephaly syndrome, were studied. All four had a typical clinical course with failure to thrive, severe psychomotor retardation, opisthotonos, seizures, and death early in life. None of these children had lissencephaly, the anticipated central feature of this disorder. One of the four had pachygyria, one had polymicrogyria, and two had both pachygyria and polymicrogyria. The brain weights were normal to decreased. The ventricles were dilated in all cases. The cerebral cortex was thickened in each, with decreased white matter and diminution or distortion of the cellular layers, and there were neuroglial heterotopias. The corpus callosum was partially absent in one and thinned in three. The neuropathy found in these children with Miller-Dieker syndrome suggests a spectrum of gyral anomalies resulting from a single type of embryonic error.     

The midterm success rates of tubularized incised plate urethroplasty in reoperative patients with distal or midpenile hypospadias

To review the midterm results of tubularized incised plate (TIP) urethroplasty (Snodgrass method) in reoperative patients with distal or midpenile hypospadias. The results of TIP urethroplasty in 37 patients who had previously failed hypospadias repair were reviewed. Of the patients, 21 (56.8%) had coronal, 11 (29.7%) had subcoronal, and 5 (13.5%) had midpenile hypospadias. The mean age was 4.1 (2–16) years. Twenty-three patients had one operation and 14 patients had two operations previously. Of all the patients, 14 did not have a foreskin because of circumcision. The urethral plate had been disturbed in 6 patients, but there was not apparent scarring of the plate. Postoperative follow-up was 2.3 years with a range of 1.1–3.9 years. Genital examination, urethral calibration, and uroflowmetry were performed in control. Satisfaction of the families about the function and appearance of penis was also evaluated. Successful functional and cosmetic results were achieved in 29 patients (78.4%). All the families were happy with penile aesthetic appearance. The urethral plate seemed healthy at the operation in nine patients who had undergone TIP urethroplasty before and the outcomes were successful in eight of them. The operation was successful in 19/23 (82.6%) patients who had undergone one operation before and in 10/14 (71.4%) patients with two operations as well (P<0.05). In addition, sufficient outcomes were obtained in also 11 of the 14 patients with circumcision. The success rate was higher in patients <5 years (P<0.05). The rate was also higher during the recent period (2001–2003) since the experience we had increased (P<0.05). TIP urethroplasty was unsatisfied in four of the six patients who had had disturbed urethral plate before and in five of eight patients who did not have sufficient amount of dartos tissue for flap to cover neourethra. Complication was observed in eight patients (21.6%): four had a pinpoint fistula, two had wound dehiscence, one had meatal stenosis, and one had mild meatal regression and a short neourethral stricture. All of these complications were repaired successfully at a later date. The mean hospital stay was 4.6 days. TIP urethroplasty provides good functional and cosmetic midterm outcomes in most of the reoperative patients with distal or midpenile hypospadias unless contraindicated by previous resection or gross scarring of the urethral plate. This procedure seems not to disturb the urethral plate and, therefore, it can be applied on reoperative patients who had undergone TIP urethroplasty before. It can also be used in a circumcised patient when there is a lack of foreskin.     

A retrospective study of juvenile chronic arthritis

During a 20 year period 214 patients had been admitted to a teaching hospital with a diagnosis of definite or possible juvenile chronic (rheumatoid) arthritis (JCA). Eighty-seven of these patients were reviewed clinically and were classified as having had JCA. Twelve of the 214 patients were later thought to have had rheumatic fever, while 12 had had an illness consistent with viral arthritis. There was a poor functional outcome in three subgroups of JCA: (i) seropositive polyarticular onset (ii) systemic onset, and (iii) pauciarticular onset, extending to polyarticular involvement. The prevalence of inflammatory eye disease was very low with no significant visual handicap detected in patients in this study.     

Acute rheumatic fever in children in the Ankara area in 1990–1992 and comparison with a previous study in 1980–1989

Two hundred and twenty-eight patients with acute rheumatic fever (ARF), who were admitted to Dr Sami Ulus Children's Hospital between January 1990 and November 1992, were evaluated. Compared with the 1980s, an increase in the frequency of the disease was observed. The majority of patients (56.5%) were between 9 and 12 years old and 36.8% were admitted in winter. One hundred patients had arthritis only, 59 carditis and 40 chorea; 5 had carditis and chorea and 24 had arthritis and carditis. Nineteen percent of patients had a history of a previous attack. Seven of 84 patients with carditis had congestive heart failure and 2 had pericarditis. Cardiomegaly was present in 36 patients. The mitral valve was affected in 77 patients, tricuspid valve in I patient and both miral and aortic valves in 6 patients. One patient died as a result of severe congestive cardiac failure. Twenty-one patients had a recurrent attack. We observed that ARF is still a significant cause of morbidity in our country. As the disease is preventable by the eradication of streptococcus, we conclude that more effort should be made in the early detection and treatment of streptococcal infections.     

Long-term prognosis in children with recurrent abdominal pain.

The present study is a follow-up of 34 cases admitted to a paediatric department with recurrent abdominal pain (RAP) in 1942 and 1943. 45 persons without a history of RAP were selected at random and included as controls. Using a questionnaire, there was a higher incidence of gastrointestinal symptoms among persons with a history of RAP during childhood than among controls (P less than 0.05). 18 of the original 34 cases who still had symptoms were re-examined; 11 had a clinical picture consistent with a diagnosis of irritable colon, 5 had a picture compatible with both irritable colon and peptic ulcer/gastritis, and 2 had duodenal ulcer. Abdominal pains occurred no more frequently among children of parents who had had RAP during childhood than among children of parents without such a history. However, there was a higher incidence of abdominal pain among children of parents who were complaining of abdominal discomfort at the time of the investigation than among children whose parents were without such symptoms (P less than 0.005).     

Exercise-induced Bronchial Lability in Children with a History of Wheezy Bronchitis

Exercise tests were carried out on 18 children who had had wheezy bronchitis under the age of 5 years during hospitalization 7 years previously. A control group of 12 children who had been hospitalized with gastroenteritis at the same time were also studied. It was found that there was still a significant increase in bronchial lability among the wheezy bronchitis group compared with the controls, and this was especially obvious in the 7 children who had continued to have mild episodes of wheezing.     

Serum immunoglobulin G subclasses and serum immunoglobulin A in acute bronchiolitis in infants

Serum IgG subclasses and Serum IgA were studied in 43 infants with acute bronchiolitis and 20 healthy infants. IgG subclasses were determined by a capture ELISA and IgA was quantified by turbidimetry. IgG1 concentrations were significantly lower in infants with bronchiolitis than in normal infants. The other IgG subclasses and IgA did not differ between the groups. The subgroups of infants with bronchiolitis who had previously suffered from otitis media or bronchitis, had significantly lower IgG2 than the other infants with bronchiolitis. The same was found for infants with bronchiolitis who had suffered from three or more lower respiratory tract infections. In infants who had suffered from upper or lower respiratory infections before the acute bronchiolitis, IgA was significantly higher than in infants without previous respiratory infections. Ten infants with bronchiolitis (23%) had IgGl deficiency, that is values below the lower reference limit calculated in a population of healthy Norwegian infants. No healthy infants had any IgGl deficiency. No infant with bronchiolitis had IgG2 or IgG3 deficiency. The low IgGl values found in infants with acute bronchiolitis, may be one cause for infants to be more susceptible to RS virus infections.