胃贲门粘膜撕裂综合征内镜诊治的临床研究

目的　探讨有关胃贲门粘膜撕裂综合征(MWS)内镜诊断问题,比较内镜治疗与传统疗法的疗效。方法　将1993 年1 月～1998 年2 月收治的30 例有活动性出血的MWS病例随机分组,对比内镜微波治疗与内镜局部用药的效果。并将上述30 例与过去传统内科治疗的18 例做回顾性对照研究。结果　止血效果内镜治疗明显优于传统治疗。内镜治疗中微波治疗组一次止血率明显高于局部用药组,两者对裂伤粘膜愈合的影响差异无显著性意义。内镜治疗未见远期并发症。结论　内镜检查是确诊MWS的重要方法,内镜微波治疗效果肯定、方法简便,恰当使用能避免外科手术     

Metabolic syndrome in children

Currently, the metabolic syndrome (MS)--one of the pressing problems of Pediatrics, which is caused by variety of clinical manifestations and the lack of uniform criteria for diagnosis. MS is a complex of metabolic disorders, which is based on dyslipidemia, insulin resistance, compensatory hyperinsulinemia. In the pediatric preclinical and clinical manifestations of MS are often hidden under the guise of various diseases associated with it, which greatly complicates the diagnosis of MS in children. In connection with the foregoing the purpose of this work was to show a clinical example of the difficulties in identifying symptoms of MS in children to optimize its diagnostic tactics.     

Postthrombotic syndrome in children

The postthrombotic syndrome (PTS) is a clinical condition of limb pain along with physical findings that range from swelling to stasis ulcers following one or more episodes of deep vein thrombosis (DVT). While venous thromboembolism has recently gained increased recognition in children, the sequelae of limb thrombi are being recognized in a substantial proportion of affected children, and with varying degrees of severity. PTS is caused by both obstructed as well as refluxed venous blood flow, with combined effects of obstruction and reflux resulting in earlier, and more extensive symptoms. PTS can be diagnosed using an evaluation tool adapted from an international adult scale. Certain risk factors predispose children to PTS including elevations in factor VIII activity and D-dimer, clot occlusiveness, clot persistence, number of venous segments involved and duration of observation following DVT. Optimal prevention and treatment have not yet been determined, although antithrombotic therapy to facilitate rapid clot resolution, elevation, compression, moderate exercise and achievement of optimal body weight are likely to improve outcome.     

Bird-egg syndrome in children

Allergy to egg is highly frequent in childhood. In general, children allergic to egg react principally to the ingestion of egg white. Egg yolk contains various proteins but the major allergens are contained in egg white. The principal allergens are ovalbumin, ovomucoid, ovotransferrin, and lysozyme. These proteins have been sequenced. In some cases, a relationship between type I hypersensitivity with respiratory symptoms due to bird antigens and allergy to egg yolk has been described. This association is known as bird-egg syndrome, which is caused by sensitization to chicken serum albumin (alpha -livetin) and is characterized by the development of respiratory and gastrointestinal symptoms after egg intake or after contact with bird antigens. The initial symptoms are usually asthma with or without rhinoconjunctivitis due to contact with birds. Individuals first become sensitized to bird proteins (feathers, excrement, serum and meat) and subsequently develop egg allergy. Although bird-egg syndrome has been described principally in adults, especially in women, it can also affect children in whom the syndrome presents certain differentiating characteristics in relation to the more common sensitization to egg white. Gastrointestinal and respiratory symptoms are more common than cutaneous symptoms and sensitization to egg yolk is more frequent than that to egg white. In children with allergy to birds and egg, egg allergy is usually more persistent; tolerance is not always achieved and develops later. Sensitization to other aeroallergens is also greater in individuals with allergy to birds and egg. Sensitization to egg sometimes precedes respiratory sensitization to bird proteins, a process known as bird-egg syndrome. By way of example, the case of a child who clinically presented bird-egg syndrome is presented at the end of this review.     

Sleep‐disordered breathing in children with thoracic insufficiency syndrome

Thoracic insufficiency syndrome (TIS) is a collection of chest and spine malformations that results in progressively restrictive pulmonary mechanics and an inability of the thorax to adequately support lung growth. Many children with TIS are too young to perform standard pulmonary function tests, yet need functional assessments of their restrictive thoracic disease. We report on the sleep architecture and frequency of sleep‐related breathing abnormalities in 11 children with TIS who underwent overnight polysomnography from retrospective chart review. Ten of 11 (92%) had sleep disordered breathing as defined by currently accepted criteria of apnea–hypopnea index (AHI) >2 events/hr. The median AHI was 4.3 events/hr, with obstructive hypopneas (median 3.7 events/hr) accounting for 75% of abnormalities. Respiratory events occurred most frequently during REM sleep (median REM‐AHI 17.3 events/hr), and were associated with oxyhemoglobin desaturation, and rarely carbon dioxide retention. Sleep disordered breathing with hypoxemia appears to be a common but under recognized problem among children with TIS. Polysomnogram may have a role as a non‐invasive screening tool used in conjunction with other functional respiratory assessments in children with TIS, and warrants further study in a prospective manner. Pediatr Pulmonol. 2010; 45:469–474. © 2010 Wiley‐Liss, Inc.     

Severe acute respiratory syndrome coronavirus 2-related multisystem inflammatory syndrome in children mimicking Kawasaki disease

Schematic distribution of the clinical signs in multisystem inflammatory syndrome in children (MIS-C) associated with SARS-CoV-2.

     

Insulin resistance syndrome in children

The insulin resistance syndrome (syndrome X, metabolic syndrome) has become the major health problem of our times. Associated obesity, dyslipidemia, atherosclerosis, hypertension, and type 2 diabetes conspire to shorten life spans, while hyperandrogenism with polycystic ovarian syndrome affect the quality of life and fertility of increasing numbers of women. Whereas a growing number of single genetic diseases affecting satiety or energy metabolism have been found to produce the clinical phenotype, strong familial occurrences, especially in racially prone groups such as those from the Indian subcontinent, or individuals of African, Hispanic, and American Indian descents, together with emerging genetic findings, are revealing the polygenetic nature of the syndrome. However, the strong lifestyle factors of excessive carbohydrate and fat consumption and lack of exercise are important keys to the phenotypic expression of the syndrome. The natural history includes small for gestational age birth weight, excessive weight gains during childhood, premature pubarche, an allergic diathesis, acanthosis nigricans, striae compounded by gynecomastia, hypertriglyceridemia, hepatic steatosis, premature atherosclerosis, hypertension, polycystic ovarian syndrome, and focal glomerulonephritis appearing increasingly through adolescence into adulthood. Type 2 diabetes, which develops because of an inherent and/or an acquired failure of an insulin compensatory response, is increasingly seen from early puberty onward, as is atheromatous disease leading to coronary heart disease and stroke. A predisposition to certain cancers and Alzheimer's disease is also now recognized. The looming tragedy from growing numbers of individuals affected by obesity/insulin resistance syndrome requires urgent public health approaches directed at their early identification and intervention during childhood. Such measures include educating the public on the topic, limiting the consumption of sucrose-containing drinks and foods with high carbohydrate and fat contents, and promoting exercise programs in our nation's homes and schools.     

Hand‐held echocardiography in children with hypoplastic left heart syndrome

Background: When performed by cardiologists, hand‐held echocardiography (HHE) can assess ventricular systolic function and valve disease in adults, but its accuracy and utility in congenital heart disease is unknown. In hypoplastic left heart syndrome (HLHS), the echocardiographic detection of depressed right ventricular (RV) systolic function and higher grade tricuspid regurgitation (TR) can identify patients who are at increased risk of morbidity and mortality and who may benefit from additional imaging or medical therapies.
Methods: Children with HLHS after Stage I or II surgical palliation (Norwood or Glenn procedures) were prospectively enrolled. Subjects underwent HHE by a pediatric cardiologist on the same day as standard echocardiography (SE). Using 4‐point scales, bedside HHE assessment of RV systolic function and TR were compared with blinded assessment of offline SE images. Concordance correlation coefficient (CCC) was used to evaluate agreement.
Results: Thirty‐two HHEs were performed on 15 subjects (Stage I: n = 17 and Stage II: n = 15). Median subject age was 3.4 months (14 days‐4.2 years). Median weight was 5.9 kg (2.6‐15.4 kg). Bedside HHE assessment of RV systolic function and TR severity had substantial agreement with SE (CCC = 0.80, CCC = 0.74, respectively; P < .001). HHE sensitivity and specificity for any grade of depressed RV systolic function were 100% and 92%, respectively, and were 94% and 88% for moderate or greater TR, respectively. Average HHE scan time was 238 seconds.
Conclusions: HHE offers a rapid, bedside tool for pediatric cardiologists to detect RV systolic dysfunction and hemodynamically significant TR in HLHS.     

Cryopyrin‐associated periodic fever syndrome in children: A case‐based review

Cryopyrin‐associated periodic fever syndrome (CAPS) represents an increasingly recognized disease group entity, with varied presentations. CAPS includes 3 clinical entities, namely, familial cold‐induced autoinflammatory syndrome (FCAS; MIM #120100), Muckle‐Wells syndrome (MWS; MIM #191900) and chronic inflammatory neurologic cutaneous and articular syndrome (CINCA; MIM #607115); which share several overlapping clinical features. These patients often present with early‐onset episodes of fever and rash, and variable systemic signs and symptoms, making it a great mimicker of other systemic autoimmune diseases. The episodes are transient and related to exposure to cold temperature and worsen in the winter season. We hereby present a case presenting with recurrent seasonal fever and rash, diagnosed as FCAS/ MWS overlap based on clinical signs and symptoms and positive testing for NLRP3 gene mutation. We also discuss the clinical presentation and complications of CAPS, chiefly FCAS and MWS, along with the previously described pediatric cases of CAPS. We tried to review the complexities of management of such patients, including the genetic diagnosis and the role of biological therapy. Based on the review of the literature, given the evident broad spectrum of symptoms and signs, use of next‐generation sequencing can help in prompt diagnosis and early initiation of biological agents, which may play a great role in reducing the complications that these patients may experience in the long run.     

Myelodysplastic syndrome in children and adolescents

Myelodysplastic syndromes (MDS) are clonal disorders characterized by ineffective hematopoiesis and subsequent frequent development of acute myeloid leukemia (AML). In children and adolescents, MDS are uncommon disorders, accounting for less than 5% of hematopoietic malignancy, with great heterogeneity in presentation and clinical course. The genetic changes predisposing children to MDS are largely obscure. Monosomy 7 is the most common chromosomal abnormality, often occurring as a sole abnormality. The recent pediatric modification of the World Health Organization (WHO) classification has greatly facilitated the diagnostic process. Refractory cytopenia (RC) is the most common MDS subtype in children, occurring in about half of all MDS cases. There is consensus that the relationship between MDS with increased blast count and de novo AML is better defined by biological and clinical features than by blast count. Because monosomy 7 is the only chromosomal abnormality strongly suggestive of MDS, children presenting with a low blast count and other chromosomal aberrations or normal karyotype must be closely observed before a diagnosis of MDS can be established. With an increasing number of children surviving primary cancer with chemotherapy or radiation therapy, the incidence of secondary therapy-related MDS is rising. The MDS risk is also increased in patients with inherited bone marrow failure disorders; this relationship provides valuable insights into MDS biology. Allogeneic hematopoietic stem cell transplantation (HSCT) from a matched related or suitable unrelated donor is the choice for most children with MDS and can rescue a large proportion of patients.