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SOLAMEN syndrome is a rare, recently recognized congenital syndrome that is characterized by progressive and hypertrophic diseases involving multiple systems, including segmental overgrowth, lipomatosis, arteriovenous malformation (AVM) and epidermal nevus. According to literatures, SOLAMEN syndrome is caused by heterozygous PTEN mutation. Phenotypic overlap complicates the clinical identification of diseases associated with PTEN heterozygous mutations, making the diagnosis of SOLAMEN more challenging. In addition, SOLAMEN often presents with segmental tissue overgrowth and vascular malformations, increasing the possibility of misdiagnosis as klipple-trenaunay syndrome or Parks-Weber syndrome. Here, we present a case of a child presenting with macrocephaly, patchy lymphatic malformation on the right chest, marked subcutaneous varicosities and capillaries involving the whole body, overgrowth of the left lower limb, a liner epidermal nevus on the middle of the right lower limb, and a large AVM on the right cranial thoracic entrance. Based on the typical phenotypes, the child was diagnosed as SOLAMEN syndrome. detailed clinical, imaging and genetic diagnoses of SOLAMEN syndrome was rendered. Next-generation sequencing (NGS) data revealed that except for a germline PTEN mutation, a PDGFRB variant was also identified. A subsequent echocardiographic examination detected potential cardiac defects. We suggested that given the progressive nature of AVM and the potential severity of cardiac damage, regular echocardiographic evaluation, imaging follow-up and appropriate interventional therapy for AVM are recommended.
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Fosfohidrolasa PTEN , Niño , Humanos , Masculino , Malformaciones Arteriovenosas/genética , Malformaciones Arteriovenosas/diagnóstico , Lipoma , Lipomatosis/genética , Lipomatosis/diagnóstico , Anomalías Musculoesqueléticas , Mutación , Nevo/genética , Nevo/diagnóstico , Fenotipo , Fosfohidrolasa PTEN/genética , Malformaciones VascularesRESUMEN
Background: In recent years, gallstones have become a major condition affecting people's health. Cholecystectomy remains an effective treatment method, but it has large risk factors. It is well known that the hepatoenteric axis plays a key role in gallstone formation, and it is gradually becoming a research focus. Cholesterol homeostasis can be regulated by the liver and intestinal tract in our bodies, and intestinal flora can regulate the digestion and absorption of cholesterol. These two factors are closely related to the formation of gallstones. Aim: To investigate the effects of tauroursodeoxycholic acid (TUDCA) and/or intestinal probiotics on serum biochemical indexes and bile composition in patients with cholecystolithiasis. Methods: For this study, 96 patients with cholecystolithiasis were recruited at our hospital. The patients were randomly divided into four groups according to a random number table: group â (TUDCA, 24 cases), group â ¡ (intestinal probiotics, 24 cases), group â ¢ (TUDCA and intestinal probiotics, 24 cases) and group â £ (control group, 24 cases). All patients underwent laparoscopic gallbladder-preserving lithotomy or laparoscopic cholecystectomy. Bile samples were identified and extracted during the operation. Results: The results revealed that the levels of serum total bile acid (TBA), serum total cholesterol (TCHOL) and serum triglyceride in groups I, II and III before and after the intervention were statistically significant (p < 0.05). There were significant differences in serum low-density lipoprotein cholesterol (LDL-C) between groups I and II before and after the intervention (p < 0.05), but the serum LDL-C level in group â ¢ before and after the intervention was similar (p > 0.05). Regarding bile, TBA levels demonstrated no significant difference between groups I and III (p > 0.05), and the differences between the other two groups were statistically significant (p < 0.05). No significant difference was identified in phospholipid and TCHOL levels between groups I and â ¢ (p > 0.05), and the differences between the other two groups were statistically significant (p < 0.05). There were significant differences in the levels of free Ca2+, pH value and glycoprotein in bile among the four groups (p < 0.05). The levels of cholic acid, chenodeoxycholic acid and deoxycholic acid in bile were significantly different among the four groups (p < 0.05). The level of lithocholic acid (LCA) in groups â ¡ and â ¢ was similar, as was the level of LCA in groups I and â V, but the difference in level between the other two groups was statistically significant (p < 0.05). Conclusion: The combination of TUDCA and intestinal probiotics did not enhance the effect of either treatment. The use of intestinal probiotics alone can maximise the reverse development of bile composition in patients with cholecystolithiasis compared with TUDCA alone and a combination of TUDCA and intestinal probiotics, thereby reducing gallstone formation.
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BACKGROUND: Congenital melanocytic naevi (CMN) are known to be associated with mosaic NRAS or BRAF variants. However, the exact correlations of the allele load of mosaic variants in CMN with phenotypic characteristics have not been determined. AIM: To determine the correlation of variants allele load and different phenotypes of CMN. METHODS: A panel of genes in the Ras/Raf/MAPK signalling pathway was selected for sequencing in 110 patients with CMN. Correlations between variant allele load and clinical phenotypes, including anatomical localization, projected adult size of the lesion, satellites, subcutaneous nodules, surface rugosity, colour variation and hypertrichosis, were analysed. RESULTS: In addition to the predominant NRAS p.Q61R/K (61.8%) and BRAF p.V600E variants (10%) in patients, we also detected additional variants of NRAS (p.G13R and p.M72fs), BRAF (p.D22N) and MAP2K1 (p.I107fs, p.F209fs, p.Q354H and p.G91_L92insHDQARRLVGDLEHHKPSG). Furthermore, a higher allele load of NRAS p.Q61R/K was found in the trunk and limbs of CMN. It was also found in CMN with larger size, higher colour variation and more significant hypertrichosis, surface rugosity and asymmetry. CONCLUSION: We discovered more genetic variants of NRAS, BRAF and MAP2K1 and established a correlation between the allele load of NRAS p.Q61R/K and various phenotypes in CMN. The findings of this study potentially facilitate a more accurate and comprehensive classification of CMN in addition to the phenotypic or pathological characteristics used in clinical practice.
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Hipertricosis , Nevo Pigmentado , Neoplasias Cutáneas , Humanos , Proteínas Proto-Oncogénicas B-raf/genética , Alelos , Neoplasias Cutáneas/patología , Fenotipo , Nevo Pigmentado/patología , Mutación , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , GTP Fosfohidrolasas/genética , GTP Fosfohidrolasas/metabolismoRESUMEN
LEOPARD syndrome (OMIM #151,100) caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafe´-au-lait spots, electrocardiographic conduction abnormalities, ocular hypertelorism/obstructive cardiomyopathy, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness. Phenotype overlap complicates clinical discrimination within RASopathies, making the diagnosis of LEOPARD more confusing and challenging. Besides, LEOPARD patients do not usually present with all these typical clinical features, increasing the possibility of underdiagnosis or misdiagnosis.Herein, we report a case of LEOPARD syndrome in a patient who only presented with pigmented skin spots and was initially diagnosed with multiple acquired melanocytic nevi. Subsequent pathological examination confirmed the diagnosis of multiple lentigines rather than melanocytic nevi. A genetic study showed a germline PTPN11 (Tyr279Cys) mutation and raised the suspicion of LEOPARD syndrome. A subsequent ECG examination detected potential cardiac defects and confirmed the diagnosis of LEOPARD. We considered that the potential damage of other systems underlying the skin multiple lentigines should not be ignored. The diagnosis of LEOPARD syndrome in an early stage before cardiac damage has reached a serious and irreversible stage can be meaningful for patients to fully understand the potential risks, complications and prognosis of the disease and to take appropriate precautions to prevent the potential risk of cardiac damage.
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Síndrome LEOPARD , Neoplasias Cutáneas , Humanos , Síndrome LEOPARD/genética , Mutación , Fenotipo , PielRESUMEN
OBJECTIVE: To improve the method of vermillion flap and orbicularis oris bundle anastomosis in repair of transverse facial cleft. METHODS: Based on the precise fixed point, the modified vermillion flap was designed slender at the new corner of the upper lip, and was inserted into the lower lip after removing part tissue. The orbicularis oris was divided into two bands and cross-stitched. RESULTS: Fifteen patients with unilateral transverse facial cleft form the Children's Hospital of Zhejiang University during September 2016 and December 2018 were operated, and the position and shape of the commissure were almost normal. CONCLUSIONS: The cosmetic effect and oral function are satisfactory when the modified vermillion flap and bundle anastomosis of orbicularis oris is used to repair transverse facial cleft.
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Anastomosis Quirúrgica , Labio Leporino , Colgajos Quirúrgicos , Niño , Labio Leporino/cirugía , Músculos Faciales/cirugía , Humanos , Labio/cirugía , Colgajos Quirúrgicos/cirugía , Resultado del TratamientoRESUMEN
The aim of the present study was to examine the combined efficacy of simvastatin and kallistatin treatment for pediatric burn sepsis. A total of 72 pediatric patients with burn sepsis were recruited and randomly divided into 3 groups, receiving simvastatin (40 mg/day), kallistatin (20 mg/day) or combined treatment. ELISA, reverse transcription-quantitative polymerase chain reaction, western blotting and flow cytometry were used to analyze the therapeutic effects of simvastatin and kallistatin. The results revealed that combined treatment in pediatric burn sepsis patients decreased the inflammatory cytokine tumor necrosis factor α and interleukin (IL)-1ß serum levels, whereas it increased IL-10 and human leukocyte antigen-D related levels. In addition, administration of combined simvastatin and kallistatin decreased the blood urea nitrogen and serum creatinine levels in the patients. It was also demonstrated that Toll-like receptor 4 expression on the surface of monocytes was markedly decreased, while suppressor of cytokine signaling-3 expression was increased in the combined treatment group as compared with the kallistatin or simvastatin treatment alone. Combined treatment also promoted human endothelial cell (HEC) growth compared with the single treatment groups and inhibited the high mobility group box-1 (HMGB1) levels, HMGB1-induced nuclear factor-κB activation and inflammatory gene expression levels in these cells. The study further demonstrated that combined treatment significantly decreased HEC apoptosis through the upregulation of B-cell lymphoma 2 (Bcl-2) and P53 expression levels, as well as downregulation of Bcl-2-associated X protein and caspase-3 levels. In conclusion, these observations indicated that combined treatment with simvastatin and kallistatin inhibited HEC apoptosis, which may be a potential therapeutic strategy for the treatment of pediatric burn sepsis patients.
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Kasabach-Merritt phenomenon (KMP) is a rare potentially life-threatening consumptive coagulopathy characterized by thrombocytopenia and hypofibrinogenemia occurring associated with the vascular tumors kaposiform hemangioendothelioma (KHE) and tufted angioma (TA). A 10-month old male infant, diagnosed with KHE on his left leg, underwent a rapid increase of the lesion and severe thrombocytopenia, one day after the first dose of inactivated Japanese encephalitis (JE) vaccination. The episode of KMP was treated successfully by steroid. KMP is a rare complication of vaccination that physicians should be aware of. Giving up the following vaccination to provide the recurrence of KMP is not recommended.
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Vacunas contra la Encefalitis Japonesa/efectos adversos , Síndrome de Kasabach-Merritt/etiología , Vacunación/efectos adversos , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Encefalitis Japonesa/prevención & control , Humanos , Lactante , Vacunas contra la Encefalitis Japonesa/administración & dosificación , Síndrome de Kasabach-Merritt/diagnóstico , Síndrome de Kasabach-Merritt/tratamiento farmacológico , Masculino , Esteroides/administración & dosificación , Esteroides/uso terapéutico , Trombocitopenia/etiologíaRESUMEN
To clarify the benefits of enteral nutrition (EN) versus total parenteral nutrition (TPN) in patients with gastrointestinal cancer who underwent major abdominal surgery. Medline, Cochrane, EMBASE, and Google Scholar were searched for studies published until July 10, 2015, reporting outcomes between the two types of postoperative nutritional support. Only randomized controlled trials (RCTs) were included. A χ(2)-based test of homogeneity was performed using Cochran's Q statistic and I(2) A total of 2540 patients (1268 who received EN and 1272 who received TPN; average age range: 58.3-67.7â years) from 18 RCTs were included for assessment. Patients who received EN had shorter lengths of hospital stay (pooled difference in mean=-1.74, 95% CI -2.41 to -1.07, p<0.001, shorter time to flatus (pooled difference in mean=-1.27, 95% CI -1.69 to -0.85, p<0.001), and significantly greater increases in albumin levels (pooled difference in mean=-1.33, 95% CI -2.18 to -0.47, p=0.002) compared with those who received TPN after major abdominal surgery, based on a random-effects model of analysis. EN after major abdominal surgery provided better outcomes compared with TPN in patients with gastrointestinal cancer.
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Abdomen/cirugía , Nutrición Enteral , Neoplasias Gastrointestinales/cirugía , Neoplasias Gastrointestinales/terapia , Nutrición Parenteral , Fuga Anastomótica/etiología , Nutrición Enteral/mortalidad , Neoplasias Gastrointestinales/sangre , Neoplasias Gastrointestinales/mortalidad , Humanos , Tiempo de Internación , Evaluación de Resultado en la Atención de Salud , Nutrición Parenteral/mortalidad , Complicaciones Posoperatorias/etiología , Sesgo de Publicación , Garantía de la Calidad de Atención de Salud , Sensibilidad y Especificidad , Albúmina Sérica/metabolismoRESUMEN
OBJECTIVE: To study the relationship of nonsyndromic cleft lip and/or palate (NSCL/P) and poliovirus receptor-related 1 exon3 (PVRL1exon3) polymorphisms in Han People of Jiangzhe area. METHODS: PVRL1exon3 was examined by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique in the 50 patients with NSCL/P and 85 healthy parents. RESULTS: No W185X mutation was found in the PVRL1exon 3. CONCLUSION: It indicates that there is no relationship between NSCL/P and PVRL1exon3 in Han People in Jiangzhe area.