RESUMO
Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like fatigue, a peculiar face with thickening of the lips, mucosal neuromas on the lips and tongue, and gastrointestinal phenomena. Most patients harbor pathological variants of the RET gene. Herein, we present the first case of a 14 year-old boy who experienced small intestinal volvulus along with a megacolon, and he was diagnosed with multiple endocrine neoplasia type 2B. The patient complained of constipation since he was 2 years old and slowly progressive abdominal distension at school age. At 14 years of age, he presented with remarkable megacolon mimicking Hirschsprung's disease and complicated with small intestinal volvulus. The volvulus was successfully repaired, and the particularly dilated transverse colon was resected following a rectal biopsy. Histopathological evaluation of the resected transverse colon revealed to be compatible with ganglioneuromatosis. After emergency surgery, the patient was diagnosed with multiple endocrine neoplasia type 2B with medullary thyroid carcinoma, and a de novo variant of RET was confirmed. Gastroenterologists should consider it when treating patients with constipation, especially those with megacolon. Therefore, timely diagnosis may lead to appropriate treatment of medullary thyroid carcinoma and improve mortality.
Assuntos
Volvo Intestinal , Megacolo , Neoplasia Endócrina Múltipla Tipo 2b , Neoplasias da Glândula Tireoide , Humanos , Neoplasia Endócrina Múltipla Tipo 2b/complicações , Neoplasia Endócrina Múltipla Tipo 2b/diagnóstico , Neoplasia Endócrina Múltipla Tipo 2b/patologia , Neoplasia Endócrina Múltipla Tipo 2b/cirurgia , Masculino , Volvo Intestinal/cirurgia , Volvo Intestinal/complicações , Adolescente , Megacolo/complicações , Megacolo/cirurgia , Megacolo/etiologia , Neoplasias da Glândula Tireoide/complicações , Neoplasias da Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/diagnóstico , Constipação Intestinal/etiologia , Proteínas Proto-Oncogênicas c-ret/genética , Carcinoma Neuroendócrino/complicações , Carcinoma Neuroendócrino/cirurgia , Carcinoma Neuroendócrino/patologia , Ganglioneuroma/complicações , Ganglioneuroma/cirurgia , Ganglioneuroma/patologia , Ganglioneuroma/diagnóstico , Intestino Delgado/patologiaRESUMO
RET gene variances confer susceptibility to Hirschsprung's disease (HSCR) with pathogenetic mutations being identified in half of familial cases. This investigation of familial HSCR was aimed to clarify the relationship between genetic mutations and clinical phenotype using next-generation sequencing. A novel c2313C > G(D771E) RET mutation was identified in all three affected family members. The mutation involved the kinase domain, which is believe to impair RET activity and intestinal function. A second RET mutation, c1465G > A(D489N), was found only in the extensive aganglionosis case. We conclude that the novel c2313C > A(D771E) mutation in RET may be pathogenic for HSCR, while the c1465C > G(D489N) mutation may be related to phenotype severity.
RESUMO
AIM OF THE STUDY: Laryngotracheal separation (LTS) is known to be the definitive solution for intractable aspiration pneumonia in neurologically impaired children. Postoperatively, a tracheostomy cannula is usually required. However, there are fatal cannula related complications such as a tracheo-innominate artery fistula (TIAF). We present our methods of preventing TIAF. METHODS: A retrospective review in a single center from 2011 to 2019 identified 57 cases treated with LTS. We divided them into three groups: no pre-existing tracheostomy (n = 26), pre-existing tracheostomy with preservation of the pre-existing fistula (n = 20), and pre-existing tracheostomy without preservation of the pre-existing fistula (n = 11). The first group underwent traditional modified Lindeman's procedure. The second received transection of the trachea above the tracheostomy site, while the third had transection of the trachea at the tracheostomy site and creation of a distal end tracheostomy. Proper length and the angle of the cannula were selected to prevent damaging the innominate artery by the tip of the cannula. If the innominate artery compressed the trachea anteriorly, prophylactic arterial transection was considered. RESULTS: Three patients (5.3%) died from causes unrelated to the surgical treatment. Only one patient had a postoperative TIAF followed by LTS (1.8%). Other postoperative complications were: wound infection (8.8%), intratracheal granuloma (12.3%), intratracheal minor bleeding (10.5%), wound granuloma (43.9%), leakage (1.8%). No one required revision of LTS. CONCLUSION: Success rates of LTS were high without major complications in all three groups and implies a safe operation and a definitive solution to intractable aspiration.
Assuntos
Fístula , Fístula Vascular , Tronco Braquiocefálico/cirurgia , Criança , Fístula/cirurgia , Hospitais Pediátricos , Humanos , Estudos Retrospectivos , Traqueia/cirurgia , Traqueostomia , Fístula Vascular/complicações , Fístula Vascular/prevenção & controleRESUMO
BACKGROUND: Sonographic assessment before congenital diaphragmatic hernia repair has rarely been studied. OBJECTIVE: To evaluate the accuracy of preoperative ultrasound in measuring the defect size and in anticipating the presence of a rim and thereby to determine ultrasound's usefulness in informing the surgical approach for definitive repair of congenital diaphragmatic hernia. MATERIALS AND METHODS: We performed a retrospective review of the medical records of seven children with left congenital diaphragmatic hernia who had undergone ultrasound and definitive repair between 2014 and 2017 at our institution. RESULTS: The estimated defect size by ultrasound to the actual defect size measured intraoperatively for each case were as follows: 23 × 25 mm to 20 × 26 mm (case 1); 23 × 30 mm to 20 × 30 mm (case 2); 43 × 25 mm to 30 × 30 mm (case 3); 21 × 23 mm to 20 × 25 mm (case 4); 19 × 24 mm to 10 × 30 mm (case 5); 32 × 33 mm to 30 × 50 mm (case 6); and almost total absence to 40 × 50 mm (case 7). Presence or absence of each part of the diaphragm rim evaluated by ultrasound was almost identical with the actual intraoperative findings. According to the ultrasound findings, we performed a successful thoracoscopic repair in cases 1-5 with relatively small defects and presence of all parts of the rim or absence of only posterolateral rim. CONCLUSION: There was good concordance between ultrasound findings and operative findings regarding the size of the defect and presence or absence of the diaphragm rim.
Assuntos
Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Ultrassonografia/métodos , Feminino , Hérnias Diafragmáticas Congênitas/cirurgia , Herniorrafia , Humanos , Recém-Nascido , Masculino , Cuidados Pré-Operatórios , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Intensive treatment including surgery for patients with trisomy 13 (T13) remains controversial. This study aimed to evaluate the safety and efficacy of noncardiac surgical intervention for T13 patients. Medical records of patients with karyotypically confirmed T13 treated in the neonatal intensive care unit in Nagano Children's Hospital from January 2000 to October 2016 were retrospectively reviewed, and data from patients who underwent noncardiac surgery were analyzed. Of the 20 patients with T13, 15 (75%) underwent a total of 31 surgical procedures comprising 15 types, including tracheostomy in 10 patients and gastrostomy in 4. Operative time, anesthesia time, and amount of bleeding are described for the first time in a group of children with T13. All the procedures were completed safely with no anesthetic complications or surgery-related death. The overall rate of postoperative complications was 19.3%. Patients receiving tracheostomy had stable or improved respiratory condition. Six of them were discharged home and were alive at the time of this study. These results suggest at least short-term safety and efficacy of major noncardiac surgical procedures, and long-term efficacy of tracheostomy on survival or respiratory stabilization for home medical care of children with T13. Noncardiac surgical intervention is a reasonable choice for patients with T13.
Assuntos
Procedimentos Cirúrgicos Operatórios , Síndrome da Trissomia do Cromossomo 13/cirurgia , Gerenciamento Clínico , Feminino , Humanos , Tempo de Internação , Masculino , Procedimentos Cirúrgicos Operatórios/efeitos adversos , Procedimentos Cirúrgicos Operatórios/métodos , Resultado do Tratamento , Síndrome da Trissomia do Cromossomo 13/diagnósticoRESUMO
PURPOSE: We present a first report of the long-term follow-up of biliary atresia (BA) patients who became anicteric with the native liver (ANL; total bilirubin <1.5mg/dL) after redo-Kasai. METHODS: Forty-six redo-Kasai cases (1984-2015) were the subjects for this study. ANL ratios were determined using the Kaplan-Meier estimate. RESULTS: BA type was I (n=3), II (n=1), and III (n=42). Mean ages (initial/redo) at Kasai were 60.3/231.9days, respectively. Jaundice persisted after the initial Kasai in 24/46 cases while 22 had recurrence of jaundice after initially becoming anicteric. After redo, 5/24 of the persistent jaundice cases and 14/22 of the initially anicteric cases became anicteric (p<.05). Of these 19, 7 (one type I, six type III) are currently ANL while the remaining 12 had LTx or died. Morbidity/Complications documented in the 7 post-redo ANL cases after a mean follow-up of 16.7years (range: 10.0-31.1) included 4 episodes of cholangitis, 3 episodes of portal hypertension, 4 episodes of esophageal varices, 3 episodes of splenomegaly, one splenectomy, and 4 episodes of thrombocytopenia. CONCLUSIONS: Ours is the first long-term follow-up study of redo-Kasai cases. We found that the ANL ratio after redo-Kasai was low at 7/46 (15.2%) and that ANL were prone to multiple morbidity. LEVEL OF EVIDENCE: Retrospective comparative study, level III.
Assuntos
Atresia Biliar/cirurgia , Portoenterostomia Hepática/métodos , Atresia Biliar/mortalidade , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Japão/epidemiologia , Estimativa de Kaplan-Meier , Masculino , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Fatores de Tempo , Resultado do TratamentoRESUMO
We propose an ultra-broadband full-mesh wavelength router supporting the T- and O-bands using 3 stages of cascaded arrayed waveguide gratings (AWGs). The router architecture is based on a combination of waveband and channel routing by coarse and fine AWGs, respectively. We fabricated several T-band-specific silica-based AWGs and quantum dot semiconductor optical ampliers as part of the router, and demonstrated 10 Gbps data transmission for several wavelengths throughout a range of 7.4 THz. The power penalties were below 1 dB. Wavelength routing was also demonstrated, where tuning time within a 9.4-nm-wide waveband was below 400 ms.
RESUMO
Extraosseous ewing sarcoma (EES) is a rare soft-tissue tumor usually found in the extremities or paraspinal region. We describe the case of a 4-year-old boy with a large cystic mass in the mesentery diagnosed as mesenteric lymphangioma preoperatively and as EES after partial resection and histopathological examination. EES in the mesentery is extremely rare, with only 2 reports described in the English literature. This represents the first report of EES in a child.
Assuntos
Mesentério/cirurgia , Tumores Neuroectodérmicos Primitivos Periféricos/diagnóstico , Tumores Neuroectodérmicos Primitivos Periféricos/cirurgia , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/cirurgia , Pré-Escolar , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Mesentério/diagnóstico por imagem , Mesentério/patologia , Tomografia Computadorizada por Raios XRESUMO
Lipoprotein-X (LP-X) in cholestatic jaundice causes abnormal reaction in assays for low-density lipoprotein-cholesterol, but the effects on other test items are unknown. Here, we report an infant with biliary atresia showing abnormal reaction in total serum protein assay using the biuret method, and lipoprotein-X (LP-X) was then detected. In this 11-month-old female infant, jaundice was observed at 2 months old, and a diagnosis of biliary atresia was made. On biochemical tests at 12 months old, the total serum protein concentrations detected by the biuret method were very high, and the response curve and linearity of dilution were abnormal. LP-X was detected by agar electrophoresis. In addition and recovery experiments with normal serum fractionation of the patient's LP-X-rich lipoprotein fraction prepared by ultracentrifugation, normal γ-globulin fractionation showed an abnormal reaction by the biuret method. In infants with biliary atresia, we showed that the total serum protein assay by the biuret method was influenced by LP-X-rich lipoprotein, which may be caused by abnormal reaction of LP-X and γ-globulin. [Case Report].
Assuntos
Atresia Biliar/diagnóstico , Proteínas Sanguíneas/análise , Lipoproteína-X/sangue , Atresia Biliar/sangue , Biomarcadores/sangue , Feminino , Humanos , Lactente , gama-GlobulinasRESUMO
Trisomy 18 is a common chromosomal aberration syndrome involving growth impairment, various malformations, poor prognosis, and severe developmental delay in survivors. Although esophageal atresia (EA) with tracheoesophageal fistula (TEF) is a potentially fatal complication that can only be rescued through surgical correction, no reports have addressed the efficacy of surgical intervention for EA in patients with trisomy 18. We reviewed detailed clinical information of 24 patients with trisomy 18 and EA who were admitted to two neonatal intensive care units in Japan and underwent intensive treatment including surgical interventions from 1982 to 2009. Nine patients underwent only palliative surgery, including six who underwent only gastrostomy or both gastrostomy and jejunostomy (Group 1) and three who underwent gastrostomy and TEF division (Group 2). The other 15 patients underwent radical surgery, including 10 who underwent single-stage esophago-esophagostomy with TEF division (Group 3) and five who underwent two-stage operation (gastrostomy followed by esophago-esophagostomy with TEF division) (Group 4). No intraoperative death or anesthetic complications were noted. Enteral feeding was accomplished in 17 patients, three of whom were fed orally. Three patients could be discharged home. The 1-year survival rate was 17%: 27% in those receiving radical surgery (Groups 3 and 4); 0% in those receiving palliative surgery (Groups 1 and 2). Most causes of death were related to cardiac complications. EA is not an absolute poor prognostic factor in patients with trisomy 18 undergoing radical surgery for EA and intensive cardiac management.
Assuntos
Atresia Esofágica/etiologia , Atresia Esofágica/cirurgia , Trissomia , Causas de Morte , Pré-Escolar , Cromossomos Humanos Par 18 , Atresia Esofágica/mortalidade , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mortalidade , Complicações Pós-Operatórias , Diagnóstico Pré-Natal , Prognóstico , Resultado do Tratamento , Trissomia/diagnóstico , Síndrome da Trissomía do Cromossomo 18RESUMO
An oleate-dependent Enterococcus faecalis isolate representing small-colony variants (SCVs) was isolated from the umbilical exudate of a 31-month-old Japanese male patient in Nagano Children's Hospital, Azumino, Japan. The patient had been suffering from recurrent omphalitis since early infancy. The initial E. faecalis SCV isolate formed small colonies on sheep blood agar plates and tiny colonies on chocolate and modified Drigalski agar, although no visible growth was observed in HK-semi solid medium after 48 h incubation in ambient air. Moreover, the SCV isolate, the colonial morphology of which was reminiscent of Streptococcus species, could not be identified using the MicroScan WalkAway-40 and API 20 Strep systems, both of which yielded profile numbers that did not correspond to any bacterial species, probably as a result of insufficient growth of the isolate. The SCV isolate was subsequently identified as E. faecalis based on its morphological, cultural and biochemical properties, and this was confirmed by sequencing the 16S rRNA gene of the organism. Investigations revealed that the addition of oleate, an unsaturated fatty acid, enabled the isolate to grow on every medium with normal-sized colony morphology. Although it has long been known that long-chain fatty acids, especially unsaturated oleic acid, have a major inhibitory effect on the growth of a variety of microorganisms, including not only mycobacteria but also streptococci, this is, to the best of our knowledge, the first clinical isolation of an oleate-dependent E. faecalis SCV isolate. In addition, oleic acid might be considered to affect the cell membrane permeability of carbohydrates or antimicrobial agents such as ß-lactams.
Assuntos
Enterococcus faecalis/genética , Enterococcus faecalis/isolamento & purificação , Infecções por Bactérias Gram-Positivas/microbiologia , Ácido Oleico/metabolismo , Cordão Umbilical/microbiologia , Ágar/metabolismo , Animais , Povo Asiático , Proteínas de Bactérias/genética , Proteínas de Bactérias/metabolismo , Pré-Escolar , Meios de Cultura/metabolismo , DNA Bacteriano/genética , Ácidos Graxos/metabolismo , Infecções por Bactérias Gram-Positivas/metabolismo , Humanos , Masculino , Complexos Multienzimáticos/genética , Complexos Multienzimáticos/metabolismo , RNA Ribossômico 16S/genética , Ovinos/metabolismo , Cordão Umbilical/metabolismoRESUMO
Communicating bronchopulmonary foregut malformation (CBPFM) and congenital tracheal stenosis (CTS) are difficult developmental disorders especially when they are presented simultaneously in a patient. The authors report a case of a newborn boy born at 37 weeks of gestation weighing 2356 g with CBPFM (right esophageal lung) and long segment CTS. Staged surgical repair (by-force endotracheal intubation for securing the airway followed by bronchotracheal anastomosis for CBPFM, tracheostomy with handmade, length-adjustable tracheostomy tube, and slide tracheoplasty) was performed. He has been healthy without tracheostomy for 25 months after slide tracheoplasty. This is the first report of a successful tracheobronchial reconstruction for a patient with a long segment CTS and CBPFM preserving the affected lung function.
Assuntos
Anormalidades Múltiplas/cirurgia , Brônquios/cirurgia , Anormalidades do Sistema Respiratório/cirurgia , Traqueia/cirurgia , Estenose Traqueal/cirurgia , Anormalidades Múltiplas/diagnóstico , Anastomose Cirúrgica , Brônquios/anormalidades , Humanos , Lactente , Recém-Nascido , Pulmão/anormalidades , Pulmão/cirurgia , Masculino , Anormalidades do Sistema Respiratório/diagnóstico , Traqueia/anormalidades , Estenose Traqueal/congênito , Estenose Traqueal/diagnósticoRESUMO
In mice lacking IL-15, NK cell development is arrested at immature stages, providing an opportunity to investigate the earliest developing NK cells that would respond to IL-15. We show in this study that immature NK cells were present in the spleen as well as bone marrow (BM) and contained IL-15-high-responder cells. Thus, mature NK cells were generated more efficiently from IL-15(-/-) than from control donor cells in radiation BM chimeras, and the rate of IL-15-induced cell division in vitro was higher in NK cells in the spleen and BM from IL-15(-/-) mice than in those from wild-type mice. Phenotypically, NK cells developed in IL-15(-/-) mice up to the minor but discrete CD11b(-)CD27(+)DX5(hi)CD51(dull)CD127(dull)CD122(hi) stage, which contained the majority of Ly49G2(+) and D(+) NK cells both in the spleen and BM. Even among wild-type splenic NK cells, IL-15-induced proliferation was most prominent in CD11b(-)DX5(hi) cells. Notably, IL-15-mediated preferential expansion (but not conversion from Ly49(-) cells) of Ly49(+) NK cells was observed in vitro only for NK cells in the spleen. These observations indicated the uneven distribution of NK cells of different developing stages with variable IL-15 responsiveness in these lymphoid organs. Immature NK cells in the spleen may contribute, as auxiliaries to those in BM, to the mature NK cell compartment through IL-15-driven extramarrow expansion under steady-state or inflammatory conditions.
Assuntos
Diferenciação Celular/imunologia , Interleucina-15/biossíntese , Células Matadoras Naturais/imunologia , Células Matadoras Naturais/metabolismo , Subfamília A de Receptores Semelhantes a Lectina de Células NK/metabolismo , Animais , Células da Medula Óssea/citologia , Células da Medula Óssea/imunologia , Células da Medula Óssea/metabolismo , Diferenciação Celular/genética , Células Cultivadas , Inflamação/imunologia , Inflamação/metabolismo , Inflamação/patologia , Interleucina-15/deficiência , Interleucina-15/genética , Células Matadoras Naturais/citologia , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Subfamília A de Receptores Semelhantes a Lectina de Células NK/biossíntese , Subfamília A de Receptores Semelhantes a Lectina de Células NK/deficiência , Baço/citologia , Baço/crescimento & desenvolvimento , Baço/imunologiaRESUMO
A sutureless gastroschisis closure provides a cosmetically appealing outcome. The umbilical cord is usually used as a covering material in a sutureless closure because it is a native tissue. However, during the staged closure with a silo placement, special attention is required to keep the umbilical cord moist. The authors report a simple technique to preserve the feasibility of the umbilical cord as a biologic dressing during the silo placement in staged gastroschisis closures.
Assuntos
Gastrosquise/cirurgia , Curativos Oclusivos , Procedimentos de Cirurgia Plástica/métodos , Cordão Umbilical/transplante , Umbigo/cirurgia , Humanos , Recém-Nascido , Masculino , Resultado do TratamentoRESUMO
We present a unique case of umbilical cord cysts of allantoic and omphalomesenteric remnants with progressive cord edema during pregnancy. Enlargement of the umbilical cord was observed initially at 28 weeks' gestation; the cord cysts were first recognized at 17 weeks. At 37 weeks, a cesarean section was performed and a male infant weighing 2,300 g was delivered. The entire length of the umbilical cord was 80 cm; the 50-cm proximal portion was strikingly edematous and was 7 cm in diameter. On the 1st day of life, operative exploration was undertaken via an infraumbilical incision. It was evident that a patent urachus protruded from the bladder. The lesion was excised and the bladder was closed in a two-layer anastomosis. Histologically, the intestinal epithelium was connected to the transitional epithelium at the top of the urachus, indicating allantoic remnants fused with omphalomesenteric remnants. Such a case has not been reported previously. It was considered that the overflow of urine from allantoic remnants to omphalomesenteric remnants caused the extraordinary edema of the umbilical matrix. Based on our experience, finding progressive umbilical cord edema may indicate a patent urachus co-existing with allantoic and omphalomesenteric remnants.
Assuntos
Alantoide/diagnóstico por imagem , Cistos/diagnóstico por imagem , Hidropisia Fetal/diagnóstico por imagem , Cordão Umbilical/diagnóstico por imagem , Úraco/anormalidades , Ducto Vitelino/diagnóstico por imagem , Adulto , Cistos/complicações , Feminino , Humanos , Hidropisia Fetal/etiologia , Recém-Nascido , Masculino , Gravidez , UltrassonografiaRESUMO
BACKGROUND: It is quite unusual for a fistula to communicate directly with the surface of the hernia sac, and associated prolapse of the ileum through a patent omphalomesenteric duct is also extremely rare. OBJECTIVES: We report a unique case of a fetus exposed to methimazole in utero, with a hernia of the umbilical cord and associated ileal prolapse through a patent omphalomesenteric duct. METHODS AND RESULTS: In this case, the umbilical cord was attached to a small unruptured omphalocele, to the right of which a small everted loop of the ileum had evaginated. The hernia sac measured 2.5 cm and contained only ileum. The ileal prolapse was T shaped and had two visible mucosal ostia, and meconium was discharging from the ostium on the oral side. We confirmed that this loop of small bowel had prolapsed through a patent omphalomesenteric duct, which had a fistulous communication with the surface of the hernia sac. This resulted in the misleading prenatal findings on ultrasound and MRI, which were suggestive of a gastroschisis. Such a case with prenatal ultrasound and MRI findings has not been reported previously. CONCLUSION: The observed congenital anomaly in our fetus might be associated with prenatal exposure to methimazole.