Database : MEDLINE
Search on : Diaphragmatic and Eventration [Words]
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[PMID]: 29449050
[Au] Autor:Ieda D; Hori I; Nakamura Y; Ohshita H; Negishi Y; Shinohara T; Hattori A; Kato T; Inukai S; Kitamura K; Kawai T; Ohara O; Kunishima S; Saitoh S
[Ad] Address:Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan.
[Ti] Title:A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.
[So] Source:Brain Dev;, 2018 Feb 12.
[Is] ISSN:1872-7131
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently been shown to additionally have Ehlers-Danlos-like collagenopathy or macrothrombocytopenia. In an attempt to establish a clearer correlation between clinical symptoms and genotype, we have investigated a phenotype that involves thrombocytopenia in a patient with a truncation of the FLNA gene. CASE REPORT: We present the case of a 4-year-old girl who, at birth, showed a ventral hernia. At 2 months of age, she was diagnosed with patent ductus arteriosus (PDA) and aortic valve regurgitation. At 11 months, she underwent ligation of the PDA. She was also diagnosed with diaphragmatic eventration by a preoperative test. At 19 months, motor developmental delay was noted, and brain MRI revealed bilateral PVNH with mega cisterna magna. Presently, there is no evidence of epilepsy, intellectual disability or motor developmental delay. She has chronic, mild thrombocytopenia, and a platelet count that transiently decreases after viral infection. Dilation of the ascending aorta is progressing gradually. Genetic testing revealed a de novo nonsense heterozygous mutation in FLNA (NM_001456.3: c.1621G > T; p.Glu541Ter). Immunofluorescence staining of a peripheral blood smear showed a lack of filamin A expression in 21.1% of her platelets. These filamin A-negative platelets were slightly larger than her normal platelets. CONCLUSION: Our data suggests immunofluorescence staining of peripheral blood smears is a convenient diagnostic approach to identify patients with a FLNA mutation, which will facilitate further investigation of the correlation between FLNA mutations and patient phenotype.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180216
[Lr] Last revision date:180216
[St] Status:Publisher

  2 / 820 MEDLINE  
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[PMID]: 29419953
[Au] Autor:Nez V; Romo M; Encinas JL; Bueno A; Herrero B; Antoln E; Parrn M; Martnez L; Lpez Santamara M
[Ad] Address:Servicio de Ciruga Peditrica. Hospital Universitario La Paz. Madrid.
[Ti] Title:El papel de la resonancia magntica fetal en el estudio de la hernia diafragmtica congnita. [The role of fetal magnetic resonance imaging in the study of congenital diaphragmatic hernia].
[So] Source:Cir Pediatr;31(1):15-20, 2018 02 01.
[Is] ISSN:0214-1221
[Cp] Country of publication:Spain
[La] Language:spa
[Ab] Abstract:INTRODUCTION AND OBJECTIVES: Different echographic and fetal magnetic resonance (MRI) measurements have been described in the diagnosis of associated malformations and the prognosis of congenital diaphragmatic hernia (CDH). We have reviewed our experience searching for useful isolated or combined parameters and how MRI can complement ultrasound. MATERIAL AND METHODS: We evaluated 29 fetuses with CDH. We examined ultrasonography: Lung to Head (LHR o/e) and in MRI: ipsilateral lung volume (IPV) and total expressed as percentage of observed / expected lung volume (VPT o/e) and percentage of herniated liver (PHH). We studied: survival, ECMO and associated malformations. RESULTS: LHR o/e was the measure that best predicted survival (p<0.05). VPT o/e did not predict survival or the need of ECMO (p>0.05). PHH ≥19% was related to the need of ECMO. IPV <2 cc required ECMO more frequently (p<0.018) and when it was 0 cc in all cases. No combination of MR measurements was superior to LHR o/e in prediction of survival. MRI complemented the ultrasound in 4 cases: diaphragmatic eventration diagnosed with HDC, right HDC with fluid in the sac that suggested thoracic cyst, differentiation between spleen and lung that measured together overestimated the LHR and/or suspicion of Cornelia de Lange due to facial malformations. CONCLUSIONS: Not a single or combined MRI measurement exceeds LHR o/e in survival prediction. MRI is related to prognosis and can be used to support ultrasound in making decisions. MRI occasionally provides complementary morphological information.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[St] Status:In-Data-Review

  3 / 820 MEDLINE  
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[PMID]: 29424874
[Au] Autor:Kasdallah N; Ben Salem H; Kbaier H; Blibech S; Douagi M
[Ti] Title:Congenital diaphragmatic eventration complicated with neonatal gastric perforation.
[So] Source:Tunis Med;95(2):136-138, 2017 Feb.
[Is] ISSN:0041-4131
[Cp] Country of publication:Tunisia
[La] Language:eng
[Ab] Abstract:Congenital diaphragm eventration is a rare and usually asymptomatic developmental defect. Neonatal gastric perforation is also a rare but lifethreatening condition. In our knowledge, the association of these two pathologies has been, exceptionally reported. We report a case who illustrates clinical and radiological features of this possible co-morbidity. A full-term male neonate was born from uneventful pregnancy and delivery. The antenatal scan was reported as normal. At birth, clinical exam was normal, no special resuscitation was necessary. The newborn was examined and admitted the 4th day of life for fever, tachypnea, cyanosis, hemodynamic shock and refusing feeds. Clinical examination suggested peritonitis. Chest radiography and ultrasonography suggested congenital hernia. A laparotomy was performed after a brief resuscitation and confirmed the presence of diaphragm eventration with gastric perforation. Suturing of gastric perforation with a diaphragmatic plication was performed with favorable evolution.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[St] Status:In-Data-Review

  4 / 820 MEDLINE  
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[PMID]: 29167010
[Au] Autor:Lu L; Zhang C; Cheng Y
[Ad] Address:Department of Thoracic Surgery, Xiangya Hospital, Central South University, Changsha 410008, China.
[Ti] Title:[Solitary AAH Arising from Extralobar Sequestration in A Less Than 3-year-old Boy: A Case Report].
[So] Source:Zhongguo Fei Ai Za Zhi;20(11):787-788, 2017 Nov 20.
[Is] ISSN:1999-6187
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:We present a case of two-year old boy with solitary atypical adenomatous hyperplasia (AAH) in extralobar sequestration (ELS), which was misdiagnosed as diaphragmatic hernia before surgery. Review of AAH and pulmonary sequestration (PS) revealed that the present case is the youngest of solitary AAH and also the first report of solitary AAH arising in ELS without a primary lung cancer. In a sense, the present case firstly supports the hypothesis that ELS may be an underlying cancer predisposition syndrome, so aggressive surgical therapy should be recommended for ELS.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171123
[Lr] Last revision date:171123
[St] Status:In-Process
[do] DOI:10.3779/j.issn.1009-3419.2017.11.11

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[PMID]: 29127959
[Au] Autor:Clifton MS; Wulkan ML
[Ad] Address:Department of Surgery, Division of Pediatric Surgery, Emory University School of Medicine, 1405 Clifton Road NE, Atlanta, GA 30322, USA.
[Ti] Title:Congenital Diaphragmatic Hernia and Diaphragmatic Eventration.
[So] Source:Clin Perinatol;44(4):773-779, 2017 Dec.
[Is] ISSN:1557-9840
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Congenital diaphragmatic hernia can be approached successfully using minimally invasive techniques. Although there are may be a suggestion of higher recurrence rates with thoracoscopic repair, this may be due to the learning curve. However, open repair is associated with additional morbidity, most notably an increased rate of small bowel obstruction. Appropriate patients who have congenital diaphragmatic hernia should be offered the benefits of minimally invasive repair.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1711
[Cu] Class update date: 171112
[Lr] Last revision date:171112
[St] Status:In-Process

  6 / 820 MEDLINE  
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[PMID]: 28892984
[Au] Autor:Rajkumar JS; Ganesh D; Rajkumar A; Syed A; Guru V
[Ad] Address:Chief Consultant Surgeon, Department of Minimal Access Surgery, Lifeline Hospital, Chennai, Tamil Nadu, India.
[Ti] Title:Thoracoscopic Diaphragmatic Plication for Eventration in Pregnant Woman: A Case Report.
[So] Source:J Clin Diagn Res;11(7):QD03-QD04, 2017 Jul.
[Is] ISSN:2249-782X
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Diaphragmatic eventration is an uncommon malady, underdiagnosed and often treated only in emergent situations. Eventration of the diaphragm is best treated by plication of diaphragm with or without meshplasty. Various studies have shown that thoracoscopic plication is as efficient as laparotomy or laparoscopic plication. We present here the report of thoracoscopic diaphragmatic plication for eventration performed in the third trimester of pregnancy in a 28-year-old woman who presented with acute respiratory distress. To our knowledge, we believe this to be the first published case in medical literature.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170914
[Lr] Last revision date:170914
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.7860/JCDR/2017/24277.10150

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[PMID]: 28853592
[Au] Autor:Shwaartz C; Duggan E; Lee DS; Divino CM; Chin EH
[Ad] Address:Icahn School of Medicine at Mount Sinai , New York , US.
[Ti] Title:Diaphragmatic eventration presenting as a recurrent diaphragmatic hernia.
[So] Source:Ann R Coll Surg Engl;99(7):e196-e199, 2017 Sep.
[Is] ISSN:1478-7083
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Diaphragmatic eventration is an uncommon condition, usually discovered incidentally in asymptomatic patients. Even in symptomatic patients, the diagnosis can be challenging and should be considered among the differential diagnoses of diaphragmatic hernia. The correct diagnosis can often only be made in surgery. We describe the case of a 31-year-old patient with diaphragmatic eventration that was misdiagnosed as a recurrent congenital diaphragmatic hernia and review the corresponding literature.
[Mh] MeSH terms primary: Diaphragmatic Eventration/diagnosis
Hernia, Diaphragmatic/diagnosis
[Mh] MeSH terms secundary: Adult
Diagnosis, Differential
Diagnostic Errors
Diaphragmatic Eventration/diagnostic imaging
Diaphragmatic Eventration/surgery
Hernia, Diaphragmatic/diagnostic imaging
Hernias, Diaphragmatic, Congenital/diagnosis
Hernias, Diaphragmatic, Congenital/diagnostic imaging
Humans
Male
Radiography
Recurrence
Tomography, X-Ray Computed
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1709
[Cu] Class update date: 170913
[Lr] Last revision date:170913
[Js] Journal subset:IM
[Da] Date of entry for processing:170831
[St] Status:MEDLINE
[do] DOI:10.1308/rcsann.2016.0342

  8 / 820 MEDLINE  
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[PMID]: 28770137
[Au] Autor:Kadam R; Prasad V
[Ad] Address:Department of Neonatology, Lotus Hospital for Women and Children, Hyderabad.
[Ti] Title:Intrathoracic Gastric Volvulus presenting with GIT Bleed.
[So] Source:J Neonatal Surg;6(2):40, 2017 Apr-Jun.
[Is] ISSN:2226-0439
[Cp] Country of publication:Pakistan
[La] Language:eng
[Ab] Abstract:Intrathoracic gastric volvulus in neonatal period is a life-threatening surgical emergency. We report a case of neonate with respiratory distress and GI bleeding who was diagnosed to have congenital diaphragmatic eventration with Intrathoracic gastric volvulus.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 170806
[Lr] Last revision date:170806
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.21699/jns.v6i2.489

  9 / 820 MEDLINE  
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[PMID]: 28680786
[Au] Autor:Glasberg T; Jackson P; Pavlova Z; Nair S
[Ad] Address:Neonatology, Children's Hospital of Los Angeles.
[Ti] Title:Infant with Clinical Evidence of Pulmonary Hypoplasia: A Case Report.
[So] Source:Cureus;9(5):e1298, 2017 May 30.
[Is] ISSN:2168-8184
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Pulmonary hypoplasia is the incomplete development of lung tissue. A reduced number of lung cells, airways, and alveoli is the hallmark and can be seen unilaterally or in both lungs. The diagnosis, however, is usually made upon pathologic examination. Here we have presented a case of a term infant presenting with severe hypoxemic respiratory failure.Despite optimizing medical and respiratory management, the infant passed away at 22 hours of life.On autopsy, she was discovered to have bilateral diaphragmatic eventrations, which is a rare cause of secondary pulmonary hypoplasia.She also was found to have some other minor abnormalities on autopsy but no unifying cause for the eventrations and other abnormalities was elucidated.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.7759/cureus.1298

  10 / 820 MEDLINE  
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[PMID]: 28588837
[Au] Autor:Donahue ML; Rohena LO
[Ad] Address:Department of PediatricsSan Antonio Military Medical CenterSan AntonioTexas.
[Ti] Title:Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.
[So] Source:Clin Case Rep;5(6):905-914, 2017 Jun.
[Is] ISSN:2050-0904
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:We present a patient with a 17.31 MB interstitial deletion of 6q16.3-6q22.31, who demonstrates a unique constellation of 6q- features. Among 6q- patients, he has limb reduction among the most severe reported, he is the second patient with duodenal atresia, and is the first documented case of diaphragmatic eventration.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1002/ccr3.916


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