Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome

Children with chromosome 22q11.2 deletion syndrome commonly are found to have morphological brain changes, cognitive impairments, and elevated rates of psychopathology. One of the most commonly and consistently reported brain changes is reduced cerebellar volume. Here, we demonstrate that, in addition to the global cerebellum reductions previously reported, volumetric reductions of the anterior lobule and the vermal region of the neo-cerebellum in the mid-sagittal plane best differentiate children with the deletion from typically developing children. These results suggest that the morphological changes of specific portions of the cerebellum may be an important underlying substrate of cognitive impairments and increased incidence of psychopathology in this group.     

A new interstitial deletion of chromosome No. 4 del(4) (q22::q25)

A female child is described with multiple anomalies including epicanthus, frontal bossing, short sternum, polydactyly, cleft of the larynx, renal cysts, and unusual dermatoglyphics. She died aged 3 months and was found to have a unique de novo deletion of chromosome No. 4 (q22-q25). This case is compared with other long arm deletions of 4q and reference made to assignment of genetic markers to chromosome No. 4.     

No justification of routine screening for 22q11 deletions in patients with overt cleft palate

The velo-cardio-facial syndrome (VCFS), caused by a submicroscopic deletion of chromosome 22q11, is the most common syndrome that has palatal anomalies as a major feature. A possible strategy for early detection of VCFS is routine screening for 22q11 deletions in all infants with cleft palate (CP). The purpose of this study was to evaluate whether this strategy is preferable to testing on clinical suspicion. At the Nijmegen Cleft Palate Craniofacial Center, 58 new patients with overt CP were routinely tested, using fluorescence in situ hybridization (FISH), for a 22q11 deletion. One deletion was identified in a newborn girl with an overt CP who was clinically not suspected of having VCFS. Based on this study (n = 45) and the literature (n = 54), the prevalence of 22q11 deletions among children with CP, but without any other symptoms of VCFS, is estimated to be one in 99. We take the view that this figure is rather low and that early discovery will rarely have significant clinical or genetic consequences. Because CP patients remain under medical attention, almost all of the infants with isolated CP and VCFS will be recognized as having the syndrome at a later age when additional features have developed. Therefore, we conclude that routine FISH testing for 22q11 deletions in infants with overt CP is not indicated, provided clinical follow-up is guaranteed.     

Typical and partial cat eye syndrome: identification of the marker chromosome by FISH

Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH. Using a genomic library, and also a centromeric and particularly a cosmid probe of 22q11, partial tetrasomy was shown in all cases.     

血清25-羟维生素D和白细胞介素-22对急性肺炎患儿病情的诊断价值

目的 探究血清25-羟维生素D[25(OH)D]和白细胞介素-22(IL-22)对急性肺炎患儿病情的诊断价值。方法 选取2021年3月至2022年3月自贡市第一人民医院收治的96例急性重症肺炎患儿作为重症肺炎组,另选96例普通肺炎患儿作为普通肺炎组、96例体检健康儿童作为健康对照组。采用化学发光微粒子免疫检测法检测血清25(OH)D水平,采用酶联免疫吸附法（ELISA）检测IL-22水平;采用Pearson法分析重症肺炎患儿血清25(OH)D、IL-22水平与急慢性健康状况评分Ⅱ（APACHEⅡ评分）、序贯器官衰竭评分（SOFA评分）的相关性;采用受试者工作特征（ROC）曲线评估25(OH)D、IL-22对重症肺炎患儿危重症的诊断价值。结果 重症肺炎患儿血清25(OH)D与APACHEⅡ评分及SOFA评分呈负相关（r=-0.521、-0.484,P<0.05）,血清IL-22与APACHEⅡ评分及SOFA评分呈负相关（r=-0.614、-0.419,P<0.05）。ROC曲线显示,25(OH)D对危重症诊断的曲线下面积（AUC）为0.745,IL-22对危重症诊断的AUC为...     

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma,early-onset cataracts and congenital glaucoma

Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C>T variant in MIR204. Identification of a second independent family confirms the existence of a distinct MIR204-associated clinical entity and suggests that the phenotype may also involve congenital glaucoma.     

The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning

PurposeTo date, there is no systematic method to quantify the medical burden of individuals with 22q11.2 deletion syndrome (22q11.2DS). This study aimed to design a Medical Burden Scale for 22q11.2DS to evaluate the effect of medical symptoms severity on quality of life (QoL) and functioning in individuals with this syndrome.MethodsIndividuals with 22q11.2DS (n = 76) were included in the study. A multidisciplinary group of physicians determined the severity of symptoms (on a scale of 0 to 4) of 8 major medical systems affected in 22q11.2DS, as well as the level of cognitive deficits and psychiatric morbidity. Regression models were used to evaluate the impact of medical, cognitive, and psychiatric symptoms’ severity on global assessment of functioning (GAF) and QoL.ResultsThe total Medical Burden Scale score was significantly associated with both QoL and GAF scores, beyond the effect of the psychiatric and cognitive deficits. We also found that QoL and GAF scores were associated with the severity scores of specific medical systems, particularly neurological symptoms, but also cardiovascular, ear-nose-throat, endocrinology, and orthopedics.ConclusionQuantifying the medical burden of 22q11.2DS individuals is feasible and indicates the overall and specific contribution of medical symptoms to QoL and functioning of 22q11.2DS individuals.     

5－Fu佐剂包裹物的抗肿瘤作用的实验研究

本文作了福氏完全佐剂（Ｆｒｅｕｎｄ’ｓｃｏｍｐｌｅｔｅａｄｊｕｖａｎｔ,ＦＣＡ）包裹５－Ｆｕ的抗肿瘤作用的实验研究。在对小鼠Ｓ１８０肿瘤（腹水型）,ＥＡＣ肿瘤（腹水型）及Ｈ２２肝癌（腹水型）荷瘤鼠的治疗实验中,一次性腹腔注射２ｍｇ～６ｍｇ的５－Ｆｕ（相当于７０公斤人给予７７８～２３３４ｍｇ的剂量）均不能显著延长荷瘤鼠的存活期,盐水ＦＣＡ亦无治疗作用,而５－ＦｕＦＣＡ却显示出显著的治疗效果。４次实验,５－ＦＵ－ＦＣＡ治疗组荷瘤鼠平均存活期３０．６天～４８．３天,均显著长于同次实验的各对照组,且每次实验都有２／８至３／８的荷瘤鼠可完全治愈。     

Pediatric intestinal transplantation

Advancements in donor management, organ preservation and operative techniques, as well as immunosuppressive therapies, have provided children with intestinal failure and its complications a chance not only for enteral autonomy but also long-term survival through intestinal transplantation (ITx). First described in the 1960’s, experience has grown in managing these complex patients both pre- and post-transplant. The goals of this review are to provide a brief history of intestinal transplantation and intestinal rehabilitation in pediatric patients, followed by focused discussions of the indications for ITx, induction and maintenance immunosuppression therapies, common post-operative complications, and outcomes/quality of life post-transplant.