Outcome of extraocular retinoblastoma in a resource limited center from low middle income country

Retinoblastoma (RB) is the most common ocular malignancy in children, and is managed by multimodal treatment. There is a paucity of data regarding the clinical profile and outcome of children with extraocular retinoblastoma from Low Middle Income Countries (LMIC) including India. Case records of children with newly diagnosed extraocular RB from January 2013 to August 2016 treated at our unit were analysed for clinical profile, treatment, and outcome. Over the 44 month study period, 91 children were diagnosed with RB, out of which 41 had extraocular disease. While 26 children had extraocular spread limited to orbit (IRSS stage III), 15 had a distant spread to brain (IRSS stage IV). Median lag period for diagnosis was eight months. Treatment abandonment rates were 38.5% and 46.6% in International Retinoblastoma Staging System (IRSS) stage III and IV respectively. With a median follow up of 31.5 months, the projected overall survival for IRSS III at one, two, and three years was 87.5%, 55.6%, and 39.7%. All patients with stage IV disease died after a median follow up duration of three months. High treatment abandonment rates and limited availability of resources lead to suboptimal survival in children with extraocular RB from LMIC. Initiatives aimed at improving early diagnosis, so that the disease is detected in the intraocular stage, are critical to improve the survival in children with RB.     

A national prospective study on childhood celiac disease in the Netherlands 1993-2000: an increasing recognition and a changing clinical picture

OBJECTIVES: To investigate prospectively whether the incidence of diagnosed celiac disease (CD) is increasing in the Netherlands and whether the clinical presentation is changing. STUDY DESIGN: All newly diagnosed cases of CD throughout the Netherlands were registered prospectively from 1993 to 2000. The clinical picture was compared with that noted in our former study (1975-1990). RESULTS: The overall incidence rate of CD was 0.81/1000 live births, with a linear increase from 1993 to 2000. There was a significant increase in the number of subjects with partial villous atrophy of the small bowel mucosa. The clinical presentation has changed significantly: abdominal distention, chronic diarrhea, and failure to thrive are less common, and more children presented with weight < P10, abdominal pain, and lassitude. The median age at diagnosis also increased. CONCLUSION: The recognition of childhood CD in the Netherlands has increased significantly during the last few years, and the clinical picture has changed as well. Our data may indicate an increasing awareness of the Dutch doctors working in Child Public Health, general practitioners, and pediatricians to recognize more subtle expressions of the disease.     

Increasing incidence of childhood celiac disease in Sicily: results of a multicenter study

By screening the patient list of four Sicilian centers of gastroenterology and those with gluten-free product consumption, 1074 patients (607 females and 467 males) with celiac disease, diagnosed between 1975 and 1989, were identified. A maximum cumulative incidence rate by birth cohort was reached in 1986 (1.65/1000). When the incidence rate was adjusted for the years of follow-up, the actual standardized rate was 3 cases per 1000 live births. Growth failure and chronic diarrhea were the most common symptoms, but a diminishing trend for chronic diarrhea was observed when symptoms were distributed by year of diagnosis. Even though 61.1% of all cases were diagnosed within six months from the onset of symptoms, mean age at diagnosis showed an increasing trend, from less than two years to approximately four years of age. The results of our study showed an increasing incidence of celiac disease due to diagnosis of less typical cases at an older age and also to a steady increase in the rate of diagnosis of cases with a classic clinical picture.     

The pathological spectrum of pediatric kidney disease: 18-Year experience from a single tertiary care center in northern Taiwan

BackgroundGlomerular disease is one of the leading causes of chronic kidney disease in children worldwide. Recent studies outlined the changing spectrum of glomerular disease in certain countries. Therefore, our study aimed to evaluate the histopathological patterns and changes in pediatric kidney disease over the past 18 years in northern Taiwan.MethodsThis was a retrospective chart review study of pediatric patients (≤18 years of age) undergoing percutaneous renal biopsies (PRBs) of native kidneys between January 2002 and July 2020 from a Pediatric Care Center at Chang Gung Memorial Hospital, Taoyuan, Taiwan.ResultsThis study analyzed a total of 339 pediatric native PRBs. The mean age of the subjects was 13.7 ± 7.0 years (184 girls and 155 boys). The most common indications of PRBs included acute nephritic syndrome (55.7%), idiopathic nephrotic syndrome (22.7%), persistent asymptomatic hematuria (13.9%), and unexplained renal failure (7.7%). Our study revealed that proliferative lupus nephritis (LN), minimal change disease (MCD)-related nephrotic syndrome, and IgA nephropathy (IgAN) were the most frequent biopsy-proven pediatric glomerular diseases. In addition, we showed that severe acute post-streptococcal glomerulonephritis (APSGN) was infrequent and has not even been diagnosed since 2010.ConclusionOur result revealed that the spectrum of biopsy-proven pediatric kidney disease has not changed significantly over the past two decades. Furthermore, proliferative LN, MCD, and primary IgAN continue to be the most common histopathological diagnoses among Taiwanese children.     

Pediatric urolithiasis in a non-endemic country: A single center experience from The Netherlands

ObjectiveTo provide insight in causative factors of pediatric urolithiasis in The Netherlands, a non-endemic country.Patients and methodsData from 71 children with urolithiasis and stone analyses between 1996 and 2010 in the Radboud University Nijmegen Medical Centre were studied retrospectively. Patients (48 boys, 23 girls, ratio 2.1:1) were aged 0.5–18.3 years (mean 8.8, SD 5.6). All stone analyses were performed with FTIR spectroscopy.ResultsOf the 49 patients with metabolic analysis, 78% showed one (n = 15) or more (n = 23) metabolic abnormalities. Forty-seven percent had hypercalciuria (n = 23), 31% had hyperoxaluria (n = 15), 29% hypocitraturia (n = 14), 10% hyperuricosuria (n = 5), 10% cystinuria (n = 5), and 6% had hypomagnesiuria (n = 3).Sixty-one percent of the stones were composed of calcium phosphate, calcium oxalate, or a combination of those. Twenty-six percent consisted of pure or mixed magnesium ammonium phosphate, 8.3% pure or mixed urate, and 8.3% cystine.ConclusionChildren with urolithiasis in The Netherlands show stone composition similar to other Western European countries. However, a high percentage of metabolic abnormalities (78%) was found, indicating the need for extensive evaluation of pediatric urolithiasis to find underlying causes and thereby prevent stone recurrences. A close collaboration between a pediatric nephrologist and urologist is mandatory for optimal surgical and medical treatment.     

Mycophenolate mofetil in pediatric renal transplantation: a single center experience

We assessed our long-term experience with regards to the safety and efficacy of MMF in our pediatric renal transplant population and compared it retrospectively to our previous non-MMF immunosuppressive regimen. Forty-seven pediatric renal transplants received MMF as part of their immunosuppressive protocol in the period from January 1997 till October 2006 (MMF group). A previously reported non-MMF group of 59 pediatric renal transplants was included for comparative analysis (non-MMF group). The MMF group comprised 29 boys and 18 girls, whereas the non-MMF group comprised 34 boys and 25 girls. Mean age was 11.7 and 12 yr in the MMF and non-MMF groups, respectively. The incidence of acute rejection episodes was 11 (23.4%) and 14 (24%) in the MMF and non-MMF group, respectively. Two (3.3%) grafts were lost in the non-MMF group compared with one (2.1%) in the MMF group. Twenty-one (44.68%) patients in the MMF group developed post-transplant infections compared with 12 (20.33%) in the non-MMF group (p < 0.0001). In conclusion, the use of MMF in pediatric renal transplantation was not associated with a lower rejection rate or immunological graft loss. It did, however, result in a significantly higher rate of viral infections.     

Atypical hematological manifestation of celiac disease: A case report of aplastic anemia in a 2-year-old child and review of the literature

Introduction:Celiac disease typically presents with symptoms of malabsorption,but extraintestinal manifestations are increasingly reported.Aplastic anemia as th...     

Secondary hemophagocytic lymphohistiocytosis in pediatric patients: a single center experience and factors that influenced patient prognosis

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome of excessive immune activation. Secondary HLH syndrome develops as a complication of infection, drugs, rheumatologic conditions, or malignancy. The main objectives of this work were to identify the etiology of secondary HLH and prognostic factors associated with mortality. Patients diagnosed with secondary HLH, between January 2011 and December 2016, were retrospectively included in this study. We analyzed clinical and laboratory findings as well as prognostic factors from 24 pediatric patients diagnosed with secondary HLH. The mean age of patients at the time of diagnosis was 79.9?±?68.7?months (range: 2–202) and 54.2% of the patients were male. The most frequent HLH-2004 criterion was fever (100%). Underlying triggers of HLH were as follows: 13 (54.1%) infections, juvenile idiopathic arthritis in 5 patients (20.8%), drugs in 3 patients (12.5%), malignancies in 2 (0.8%), Kawasaki disease in 1 (0.4%) patient, and 1 (0.4%) with unknown triggers. The median time of diagnosis was 3?days (1–67?days). Overall, the mortality rate was 20.8%. In our logistic regression model, factors associated with mortality were decreased albumin levels (OR1?=?2.3[1.48–3.43]) and etoposide usage (OR2?=?1.22 [1.14–1.89]). The patient’s 30-day survival was inferior among patients whose albumin level was 2?g/dL or less compared to those over 2?g/dL. Increased awareness of the underlying condition is critical in HLH patients. Our study emphasizes the prognostic significance of albumin level.     

Early onset of type I diabetes mellitus, Hashimoto's thyroiditis and celiac disease in a 7-yr-old boy with Down's syndrome

Abstract:  Patients with Down's syndrome are at higher risk for developing autoimmune diseases than those of the general population. Autoimmune diseases like Hashimoto's thyroiditis, Graves' disease, diabetes mellitus type I, celiac disease, autoimmune chronic active hepatitis, alopecia, vitiligo and hypoparathyroidism are recognized associations with Down's syndrome. We describe the case of a very young boy with Down's syndrome who was diagnosed with diabetes mellitus type I, Hashimoto's thyroiditis and celiac disease before 8 yr of age. Unspecific symptoms like weight loss, unstable blood sugar with high amplitudes, behavioural problems and dry skin were suspicious for other endocrine disorders or celiac disease in our case. The boy was showing the typical human leukocyte antigen profile for these autoimmune diseases. The prevalence of these autoimmune diseases is higher in Down's syndrome than in general population. Therefore, we advice to follow children with Down's syndrome who develop more than two autoimmune diseases very carefully.     

Quality of life in children with diabetes and celiac disease: minimal impact of the 'double diagnosis'

Sud S, Marcon M, Assor E, Daneman D and Mahmud FH. Quality of life in children with diabetes and celiac disease: minimal impact of the ‘double diagnosis'. Background: Despite the advent of sensitive testing to detect celiac disease (CD), screening in type 1 diabetes (T1D) remains controversial. Many diabetes clinics are apprehensive about the prospect of introducing a second illness requiring intensive lifestyle changes in patients and families already managing a chronic condition, especially in asymptomatic patients. Objective: To determine the impact of managing CD + T1D on quality of life in families, with attention to the effect of adherence with a gluten‐free diet (GFD) and metabolic control. Patients and Methods: Cross‐sectional assessment using a validated self‐reported quality of life measure: 28 children with biopsy‐proven CD + T1D were compared with 40 subjects with T1D aged 8–18 yr. Parental and child reports were assessed as well as symptoms at the time of CD diagnosis and adherence with a GFD at the quality of life assessment. Results: No significant differences in quality of life were observed between subjects with established CD + T1D and subjects with T1D alone. Parents of children with CD + T1D reported lower social functioning scores than parents of children with T1D (p = 0.03). In the CD + T1D group no differences in quality of life were observed with regard to age at CD diagnosis, CD duration, or on the basis of adherence with a GFD. Conclusions: The additional diagnosis of CD has minimal impact on quality of life in children with T1D; however, parents of CD + T1D children did express greater concern about their child's social functioning.     

Complications of chronic kidney disease in children post-renal transplantation – A single center experience

Abstract:  Similar to adults, CKD may persist after pediatric RTx. Clinical and laboratory parameters were analyzed retrospectively in 23 RTx recipients (13 males, age 11.9 ± 5.2 yr), initially treated with prednisone, calcineurin inhibitor (TAC = 18, cyclosporine neoral = 5), and MMF at four months post-RTx (T1) and at 3.4 ± 2.8 yr post-RTx (T2). Mean (±s.d.) cystatin C GFR (mL/min/1.73 m²) was 72 ± 19 at T1 and 70 ± 22 at T2 (NS). At T2, CKD stage I was present in five patients (22%), stage II in eight patients (35%), and stage III in 10 patients (43%). At T2, calcineurin inhibitors were utilized in 19, MMF in 13, and SIR in 13 patients. The prevalence of hypertension was 69% at T1 and 87% at T2 (p = NS). Anemia was diagnosed in 61% at T1 and 69% at T2 with average therapeutic MMF (2.78 ± 1.3 mg/mL) and SIR (7.62 ± 2.3 mg/mL) trough levels. Hypercholesterolemia was detected in 44.0% at T1 and 47% at T2. Bone disease was diagnosed in 26.0% at T1 and 21.7% at T2. Mean height Z-scores were −1.0 ± 1.2 (T1) and −1.0 ± 1.59 (T2, NS), with 21% at T1 and 30% at T2 below two SDS. We observed suboptimal growth, hypertension, hypercholesterolemia, bone disease, and anemia in a significant proportion of transplanted children.     

小儿先天性心脏病术后体外膜肺氧合治疗:单中心经验

目的回顾总结先天性心脏病(congenital heart disease,CHD)术后体外膜肺氧合(extracorporeal membrane oxygenation,ECMO)辅助患儿的临床预后及死亡原因,拟进一步提高ECMO治疗存活率。方法回顾性分析上海儿童医学中心心胸外科2017年1月至2019年12月收治的CHD术后进行VA-ECMO辅助的105例患儿的临床资料,对死亡原因进行分析。结果105例ECMO患儿,平均年龄110(38,341)d,体重5.30(3.75,8.45)kg,先天性心脏病手术风险调整评分3(2~3)分。存活组(n=51)与死亡组(n=54)患儿的性别、年龄、体重、身长、先天性心脏病手术风险调整评分、手术室安装ECMO例数、经心肺复苏后安装ECMO例数及ECMO持续时间比较差异均无统计学意义(P均>0.05);连续性肾脏替代治疗使用率差异有统计学意义[7.8%(4/51)比38.9%(21/54),P<0.001]。ECMO撤离后死亡主要发生在撤离后1周(83.3%,45/54)。ECMO安置以1月龄~1岁患儿最多(52.4%,55/105),2017至2019年存活率从31.6%(6/19)上升至65.0%(13/20)。ECMO安置时3~5 kg患儿最多(39.0%,41/105),2017至2019年存活率从28.6%(4/14)上升至75.0%(9/12)。死亡原因以心力衰竭为主(48.1%,26/54),其次为出血(18.5%,10/54)和肺动脉高压(13.0%,7/54)。结论随着外科手术、体外循环技术的进步以及术后监护能力的提高,近3年我院CHD患儿ECMO后病死率逐年下降,但ECMO期间需要连续性肾脏替代治疗辅助的患儿病死率较高。因此,临床工作中仍需加强ECMO期间各脏器功能的维护。     

The use of everolimus in pediatric liver transplant recipients: first experience in a single center

The role of mTOR inhibitors, such as EVL, has not been established for pediatric liver transplant recipients up to now, although data from adult solid organ graft transplantation are very promising. Major complications following pediatric liver transplantation in the long-term course include chronic graft rejection and CNI-derived nephrotoxicity. The purpose of our study was to report first results using EVL as a rescue therapy in pediatric liver transplant recipients for the following indications: chronic graft dysfunction n=12, suspected CNI toxicity n=3, hepatoblastoma n=2, and recurrence of primary sclerosing cholangitis post-Ltx n=1. Four patients with chronic graft dysfunction developed completely normal liver function tests using EVL, six patients showed partial improvement, and two patients did not respond at all. One patient with CNI-induced nephropathy showed a slightly improved GFR. Both patients with hepatoblastoma did not develop any metastasis post-Ltx. First experience with EVL in pediatric liver transplant recipients shows promising results in patients with chronic graft failure when standard immunosuppression has failed. The future role of EVL in immunosuppressive protocols for children post-Ltx has to be proven by controlled clinical trials.