Vascular anomalies consist of tumours or malformations made up of abnormal growth or collections of blood vessels that can result in functional or cosmetic problems. While many vascular anomalies are present at birth, some do not appear until later in life, making diagnosis more challenging. Although many vascular anomalies are benign, some are associated with serious complications and may involve multiple organ systems. This article highlights the important features of clinically significant vascular anomalies to help physicians promptly identify and refer these cases to a specialised multidisciplinary team for evaluation and management. The discussion includes the various presenting complaints of vascular anomalies in children, namely, rapidly growing birthmarks, painful lesions, seizures/neurological manifestations, bleeding diathesis, cardiac/airway abnormalities and part of an overgrowth syndrome.
Infant, Newborn ; Child ; Humans ; Vascular Malformations/pathology* ; Vascular Diseases ; Syndrome

Objective To analyze the disease spectrum and clinicopathological characteristics of central nervous system(CNS)diseases diagnosed based on pathological findings in Tibet. Methods We collected the data of all the cases with CNS lesions in Tibet Autonomous Region People's Hospital from January 2013 to December 2020.The clinicopathological features were analyzed via light microscopy,immunohistochemical staining,and special staining. Results A total of 383 CNS cases confirmed by pathological diagnosis were enrolled in this study,with a male-to-female ratio of 188∶195 and an average age of(40.03±17.39)years(0-74 years).Among them,127(33.2%)cases had non-neoplastic diseases,with a male-to-female ratio of 82∶45 and an average age of(31.99±19.29)years;256(66.8%)cases had neoplastic diseases,with a male-to-female ratio of 106∶150 and an average age of(44.01±14.87)years.The main non-neoplastic diseases were nervous system infectious diseases,cerebral vascular diseases,meningocele,cerebral cyst,and brain trauma.Among the infectious diseases,brain abscess,granulomatous inflammation,cysticercosis,and hydatidosis were common.The main neoplastic diseases included meningioma,pituitary adenoma,neuroepithelial tumor,schwannoma,metastatic tumor,and hemangioblastoma.The meningioma cases consisted of 95.4%(103/108)cases of grade Ⅰ,3.7%(4/108)cases of grade Ⅱ,and only 1(1/108,0.9%)case of grade Ⅲ.Among the neuroepithelial tumor cases,the top three were glioblastoma,grade Ⅲ diffuse glioma,and ependymoma. Conclusions There are diverse CNS diseases confirmed by pathological diagnosis in Tibet,among which non-neoplastic diseases account for 1/3 of all the cases.Infectious and vascular diseases are the most common non-neoplastic diseases in Tibet,and tuberculosis and parasitic infections are relatively common.The types and proportion of brain tumors in Tibet are different from those in other regions of China,and meningioma is the most common in Tibet,with higher proportion than neuroepithelial tumor.
Adolescent ; Adult ; Aged ; Brain Neoplasms/diagnosis* ; Central Nervous System Diseases/pathology* ; Child ; Child, Preschool ; Ependymoma ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Meningeal Neoplasms ; Middle Aged ; Retrospective Studies ; Tibet/epidemiology* ; Young Adult

Objective: To explore the characteristics of neonatal adenoid development and to study the relationship between neonatal adenoid development and disease. Methods: A retrospective analysis of neonates who received an electronic rhinopharyngolaryngoscope at Shenzhen Children's Hospital from January 2019 to December 2020 was conducted to track the children's medical history and to analyze the adenoid development status. All 131 neonates successfully completed the electronic laryngoscopy. According to the presence or absence of visible adenoid hyperplasia, they were divided into a hyperplasia group (81 cases, 61.83%) and an un-hyperplasia group (50 cases, 38.17%). Results: Compared with the un-hyperplasia group, the age and birth weight of the adenoid hyperplasia group were larger, and the difference was statistically significant (Z _age=-4.634,Z _weight=-2.273,all P<0.05), but there was no significant difference in gender and gestational age between the two groups. The number of neonates with rhinitis/sinusitis in the hyperplasia group were significantly more than those in the un-hyperplasia group (62.96% vs 48%). Conclusion: The development of neonatal adenoids is related to daily age, birth weight, but not significantly related to gender and gestational age.
Adenoids/pathology* ; Birth Weight ; Child ; Humans ; Hyperplasia/pathology* ; Infant, Newborn ; Nasopharyngeal Diseases ; Retrospective Studies ; Rhinitis/pathology*

OBJECTIVE: To analyze clinical manifestations, diagnosis and treatment of annular pancreas in neonates. METHODS: Clinical data of 114 neonates with annular pancreas admitted in the Children's Hospital of Zhejiang University from January 2009 to December 2018 were reviewed. The demographic parameters (gestational age, birth weight), clinical manifestations, onset time, results of antenatal examination, associated anomalies, radiological findings, operations, postoperative complications were analyzed. RESULTS: One hundred and two cases were examined by abdominal echography, in which 68 cases showed duodenal obstruction, 4 cases showed annular pancreas. Plain abdomen X-ray examination performed in 113 cases before operation, 76 cases presented double-bubble sign, 12 cases presented single-bubble sign and 5 cases had high-position intestinal obstruction. Upper gastrointestinal radiography (UGI) was performed in 103 cases, which suggested duodenal obstruction in 102 cases. Operations were performed in all cases, of which 69 cases were operated under laparoscopy including 1 case converted to open laparotomy. The mean fasting time after surgery was (7.8±2.7) d, and the mean length of hospital stay was (16.9±10.1) d. Five patients had postoperative complications. The incidence of postoperative complications in antenatal abnormal group was lower than that in the antenatal non-abnormal group (<0.05); the average fasting time in laparoendscopic surgery group was shorter than that in traditional laparotomy group (<0.05). CONCLUSIONS Neonates with recurrent vomiting early after birth should be highly suspected to have annular pancreas. The fetal chromosome examination should be performed with abnormal antenatal screening. Surgery is the only effective way to diagnose and treat annular pancreas, and laparoscopic surgery could be the first choice for experienced doctors.
Duodenal Obstruction ; diagnostic imaging ; surgery ; Humans ; Infant, Newborn ; Laparoscopy ; Pancreas ; abnormalities ; diagnostic imaging ; pathology ; surgery ; Pancreatic Diseases ; diagnostic imaging ; pathology ; surgery ; Retrospective Studies

White matter damage, characterized by demyelination due to the damage of oligodendrocyte precursor cells (OPCs), is the most common type of brain damage in preterm infants. Survivors are often subject to long-term neurodevelopmental sequelae because of the lack of effective treatment. In recent years, it has been found that cell transplantation has the potential for the treatment of white matter damage. OPCs are frequently used cells in cell transplantation therapy. With abilities of migration and myelinization, OPCs are the best seed cells for the treatment of white matter damage. Several studies have found that OPCs may not only replace impaired cells to reconstruct the structure and function of white matter, but also inhibit neuronal apoptosis, promote the proliferation of endogenous neural stem cells, and enhance the repairment of the blood-brain barrier. However, the clinical application of OPC transplantation therapy faces many challenges, such as the effectiveness, risk of tumorigenesis and immune rejection. With reference to these studies, this article reviewed the development of myelination, the obtainment of OPCs, the therapeutic mechanism as well as application research, and analyzed the current challenges of OPC transplantation, in order to provide a new direction for clinical treatment of white matter damage in preterm infants.
Cell Separation ; Demyelinating Diseases ; therapy ; Humans ; Infant, Newborn ; Infant, Premature ; Oligodendrocyte Precursor Cells ; transplantation ; White Matter ; pathology

OBJECTIVETo detect potential mutations of MAT1A gene in a child suspected with simple hypermethioninemia by MS/MS neonatal screening.

METHODSClinical data of the child was collected. Genomic DNA was extracted by a standard method and subjected to targeted sequencing using an Ion AmpliseqInherited Disease Panel. Detected mutations were verified by Sanger sequencing.

RESULTSThe child showed no clinical features except evaluated methionine. A novel compound mutation of the MAT1A gene, i.e., c.345delA and c.529C>T, was identified in the child. His father and mother were found to be heterozygous for the c.345delA mutation and c.529C>T mutation, respectively.

CONCLUSIONThe compound mutation c.345delA and c.529C>T of the MAT1A gene probably underlie the disease in the child. The semi-conductor sequencing has provided an important means for the diagnosis of hereditary diseases.

Amino Acid Metabolism, Inborn Errors ; genetics ; pathology ; Base Sequence ; DNA Mutational Analysis ; methods ; Family Health ; Fathers ; Female ; Genetic Predisposition to Disease ; genetics ; Glycine N-Methyltransferase ; deficiency ; genetics ; Heterozygote ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; genetics ; pathology ; Male ; Methionine Adenosyltransferase ; genetics ; Mothers ; Mutation

OBJECTIVETo observe the effect of intrapartum and postpartum factors on abnormal neurological findings in the extremely preterm infants.

METHODClinical data of 62 premature infants (33 of male, 29 of female) were retrospectively analyzed. None of the premature infants had birth defect; their gestational ages were all less than 28 weeks (23(+ 6)-27(+ 6) weeks). They were hospitalized within 12 hours after birth in the neonatal intensive care unit (NICU) of BAYI Children's Hospital from November 2010 to June 2013. The blood gas, birth condition, complications, the mechanical ventilation and the ultrasonic encephalography were recorded. The 62 cases were divided into 2 groups, alive group and died group. Meanwhile, all cases of survial were divided into brain injuries group and normal brain group. Data were analyzed with t-test, Chi square test and Spearman correlation analysis.

RESULTFifty-six cases were alive, and 6 cases died (3 were during the treatment and 3 were after parents gave up). The average birth weight of brain injuries group was (954 ± 182) g; and that of the normal brain group was (1 071 ± 136) g. There were significant differences between the two groups in gender (χ(2) = 4.314, P = 0.038), gestational age (χ(2) = 11.622, P = 0.001), birth weight (t = 2.728, P = 0.009), which had significant correlation with neurological outcomes. The Spearman correlative coefficients were -0.278, 0.456 and 0.364 respectively. And P values were 0.038, 0.000 and 0.006. The rates of multiple pregnancy, lung hemorrhage and surgical operation in brain injuries group were 45%(9/20), 55%(11/20), 40%(8/20), which were significantly higher than those in normal brain group, 3%(1/36), 17%(6/36), 11%(4/36)(χ(2) = 12.800, 8.936, 4.773, P all < 0.05). These three factors were the high risk factors for adverse neurological outcomes, the odds ratios were 28.64, 6.11 and 5.33 respectively. There was no significant difference in delivery mode, amniotic fluid, maternal infection, asphyxia, necrotizing enterocolitis, patent ductus arteriosus, sepsis, mechanical ventilation, inhaled nitric oxide therapy, blood glucose, blood gas analysis, doses of dopamine between brain injuries group and normal brain group. The birth weight in alive group was (1 029 ± 163) g, which was significantly higher than those in died group (870 ± 144)g (r=0.29, P=0.022). There was no significant difference in other factors between alive group and died group(P all>0.05).

CONCLUSIONGender, gestational age and birth weight may have relation with the neurological outcomes of extremely preterm infants. Multiple pregnancy, pulmonary hemorrhage and surgical operation are the risk factors of brain injuries. Birth weight is related to the survival of extremely preterm infants.

Birth Weight ; Brain Injuries ; physiopathology ; Female ; Gestational Age ; Humans ; Infant, Extremely Premature ; Infant, Newborn ; Infant, Premature, Diseases ; Lung ; pathology ; Male ; Pregnancy ; Pregnancy, Multiple ; Retrospective Studies ; Risk Factors

BACKGROUNDCollagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). Muscle magnetic resonance imaging (MRI) has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies.

METHODSEleven patients with collagen VI gene mutation-related myopathies were enrolled in this study. MRI of the thigh muscles was performed in all patients with collagen VI gene mutation-related myopathies and in 361 patients with other neuromuscular disorders (disease controls). T1-weighted images were used to assess fatty infiltration of the muscles using a modified Mercuri's scale. We assessed the sensitivity and specificity of the MRI features of collagen VI-related myopathies. The relationship between fatty infiltration of muscles and specific collagen VI gene mutations was also investigated.

RESULTSEleven patients with collagen VI gene mutation-related myopathies included six UCMD patients and five BM patients. There was no significant difference between UCMD and BM patients in the fatty infiltration of each thigh muscle except sartorius (P = 0.033); therefore, we combined the UCMD and BM data. Mean fatty infiltration scores were 3.1 and 3.0 in adductor magnus and gluteus maximus, while the scores were 1.3, 1.3, and 1.5 in gracilis, adductor longus, and sartorius, respectively. A "target" sign in rectus femoris (RF) was present in seven cases, and a "sandwich" sign in vastus lateralis (VL) was present in ten cases. The "target" and "sandwich" signs had sensitivities of 63.6% and 90.9% and specificities of 97.3% and 96.9% for the diagnosis of collagen VI-related myopathies, respectively. Fatty infiltration scores were 2.0-3.0 in seven patients with mutations in the triple-helical domain, and 1.0-1.5 in three of four patients with mutations in the N- or C-domain of the collagen VI genes.

CONCLUSIONSThe "target" sign in RF and "sandwich" sign in VL are common MRI features and are useful for the diagnosis of collagen VI-related myopathies. The severity of fatty infiltration of muscles may have a relationship with the mutation location of collagen VI gene.

Adolescent ; Adult ; Child ; Child, Preschool ; Collagen Type VI ; genetics ; metabolism ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Muscle, Skeletal ; pathology ; Muscular Diseases ; genetics ; metabolism ; pathology ; Mutation ; genetics ; Sensitivity and Specificity ; Thigh ; pathology ; Young Adult

We reviewed the data of 38 neonates who died of respiratory failure. Paraffin sections of the autopsy lung samples were examined with HE staining or immunolabeling for CD34, CD68 and CK to observe the development of the pulmonary vessels and detect potential pulmonary vascular diseases (PVDs). Five cases were identified to have PVDs, including pulmonary hypertensive vascular remodeling in 3 cases and alveolar capillary dysplasia in 2 cases. The result indicated that PVD was one of the important reasons for respiratory failure in these neonates.
Death ; Humans ; Infant, Newborn ; Lung ; pathology ; Lung Diseases ; diagnosis ; Persistent Fetal Circulation Syndrome ; pathology ; Pulmonary Alveoli ; abnormalities ; pathology ; Respiratory Insufficiency ; mortality ; Vascular Diseases ; diagnosis ; Vascular Remodeling

OBJECTIVETo investigate the effect of premature rupture of the membrane (PROM) on neonatal complications in premature infants.

METHODSThe registration information of 7684 preterm infants with gestational age <37 weeks were collected from the cooperative units in the task group between January 1, 2014 to December 31, 2014. Specially trained personnel from each cooperative units filled in the unified form in a standardized format to record the gender, gestational age, birth weight, PROM, placental abruption, antenatal corticosteroid, Apgar score, amniotic fluid pollution, and complications of the infants. The data were analyzed comparatively between the cases with PROM and those without (control).

RESULTSThe preterm mortality rate was significantly lower but the incidences of ICH, NEC, ROP and BPD were significantly higher in PROM group than in the control group (P<0.05). The 95% confidence interval of the OR value was <1 for mortality, and was >1 for ICH, NEC, ROP and BPD. After adjustment for gestational age, birth weight, gender, mode of delivery, placental abruption, placenta previa, prenatal hormones, gestational diabetes mellitus (GDM), gestational period hypertension and 5-min Apgar score <7, the incidences of NEC, ROP and BPD were significantly different between the two groups (P<0.05) with 95% confidence interval of OR value >1, but the mortality rate and incidence of ICH were not significantly different between the two groups (P>0.05).

CONCLUSIONPROM is a risk factor for NEC, ROP and BPD in preterm infants, and adequate intervention of PROM can reduce the incidences of such complications as NEC, ROP and BPD in the infants.

Apgar Score ; Birth Weight ; Female ; Fetal Membranes, Premature Rupture ; pathology ; Gestational Age ; Humans ; Incidence ; Infant, Newborn ; Infant, Newborn, Diseases ; etiology ; Infant, Premature ; Pregnancy ; Risk Factors