共查询到20条相似文献,搜索用时 109 毫秒
1.
膈的解剖学特点与创伤性膈破裂及膈疝的救治 总被引:5,自引:0,他引:5
目的:探讨创伤性膈疝/创伤性膈破裂的诊断及治疗特点。方法:总结经手术证实的32例创伤性膈破裂与膈疝病例,其中开放性损伤18例(56.2%),以刀刺伤为主;闭合性损伤14例(43.8%),以交通伤多见。膈破裂18例,膈疝14例中有2例慢性(延迟期)膈疝:分析不同致伤原因造成的损伤类别,临床症状特点及手术方式。结果:术前确诊膈破裂与膈疝的13例(40.6%);31例(96、8%)在第一次手术中发现膈破裂与膈疝,予以修补;1例漏诊(3.2%);死亡3例(9、6%)。结论:(1)创伤性膈破裂与膈疝是一种特殊类型的损伤,伤情危重、复杂,死亡率高;(2)可根据受伤机制及胸腹腔出血量对诊断作判断;(3)正确选择手术入路与受损器官处理先后顺序能提高抢救成功率。 相似文献
2.
A retrospective anatomical, family, and epidemiological study was made of 143 patients (81 female and 62 male) with diaphragmatic hernia who were born in the south-west of England between 1943 and 1974. Thirty-nine cases were stillborn. Seventy-five per cent of patients had a left-sided diaphragmatic defect, 22% had a right-sided defect, and 3% had a bilateral defect. Fifty per cent of the patients had other congenital malformations, most frequently of the nervous system. No maternal age or birth order effect was noted. Cases of diaphragmatic hernia without other malformations had in general a normal fetal growth rate. Eight per cent of the cases were illegitimate. There were two pairs of twins discordant for diaphragmatic hernia, one pair being dizygotic and the other monozygotic. In no case of diaphragmatic hernia was there a relative affected with a diaphragmatic hernia. The most common type of diaphragmatic defect was a posterolateral hernia (92%), followed in frequency by an eventration of the diaphragm (5%), the least common defect being a retrocostosternal hernia (2%). Diaphragmatic hernia appears to be aetiologically as well as anatomically heterogeneous. In this series there were two cases of trisomy 18, one case of trisomy 21, one case trisomic for a small part of chromosome 20, and two cases with the Pierre Robin syndrome. It seems likely that diaphragmatic hernia is a non-specific consequence of several teratological processes. 相似文献
3.
A study of diaphragmatic hernia in Avon suggests that the incidence of this malformation is increasing. The incidence in Avon from 1974 to 1977 was 0.54 per 1000 births, higher than any previously published figure for the incidence of diaphragmatic hernia. 相似文献
4.
Yannick Schreiner Thomas Schaible Neysan Rafat 《European journal of human genetics : EJHG》2021,29(12):1729
Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidity and mortality in affected newborns are very high and at present, there is no precise prenatal or early postnatal prognostication parameter to predict clinical outcome in CDH patients. Most cases occur sporadically, however, genetic causes have long been discussed to explain a proportion of cases. These range from aneuploidy to complex chromosomal aberrations and specific mutations often causing a complex phenotype exhibiting multiple malformations along with CDH. This review summarises the genetic variations which have been observed in syndromic and isolated cases of congenital diaphragmatic hernia.Subject terms: Respiratory tract diseases, Mutation, Genetics research 相似文献
5.
《European journal of medical genetics》2014,57(6):247-252
Using exome sequencing we identify a heterozygous nonsense mutation in ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia in 2 affected siblings. This mutation displays variable phenotypic expression being present in a third sibling with a mild diaphragmatic eventration and a cardiovascular malformation. The same variant is seen in 2 additional family members, both of whom are asymptomatic, thus highlighting that ZFPM2 haploinsufficiency is associated with reduced penetrance. Our finding adds further evidence for ZFPM2 having a role in diaphragm and cardiovascular development. 相似文献
6.
Wu J Yamamoto H Gratacos E Ge X Verbeken E Sueishi K Hashimoto S Vanamo K Lerut T Deprest J 《Human reproduction (Oxford, England)》2000,15(12):2483-2488
Diaphragmatic hernia was created in 39 rabbit fetuses on day 23 of gestation. Fifteen fetuses underwent a sham thoracotomy (SHAM). Thirty-nine non-operated littermates served as internal controls (CTR). Fetuses were harvested by Caesarean section on days 25, 27, 29 and 30 of gestation. Pulmonary response was evaluated by lung to body weight ratio (LBWR), morphometry, and density of type II pneumocytes. No difference was found between CTR and SHAM fetuses at term. CDH fetuses had smaller lungs (LBWR 0.014 +/- 0.004 versus 0.030 +/- 0.04 in CTR, P < 0.0001), a less complex acinus [mean terminal bronchial density (MTBD) 1.786 +/- 0.408 versus 0.917 +/- 0. 188, P < 0.0001], thicker alveolar septa [mean wall transection length (LMW) 0.0221 +/- 0.008 versus 0.0142 +/- 0.002, P = 0.0003], and a lower type II cell count (144.5 +/- 19.33 versus 216.2 +/- 27.85 per high power field, P < 0.0001). The differences in MTBD and LMW were significant from gestational day 25 onwards, and the differences in type II cell count from day 27 onwards. Surgical diaphragmatic hernia in rabbit fetuses in the late pseudoglandular phase reproduces many features of the pulmonary hypoplasia associated with human congenital diaphragmatic hernia, including the delayed maturation. The effects are present within 2 days following experimental diaphragmatic hernia and progress over time. 相似文献
7.
Aniruddha Sarkar Debi Sankar Ghosh Hajra 《Journal of the Anatomical Society of India》2012,61(1):53-56
Congenital diaphragmatic hernia occurs in 1 in 2000-4000 live births and accounts for 8% of all major congenital anomalies. Congenital diaphragmatic hernia (CDH) is a major surgical emergency in newborns because the key to survival depends on the prompt diagnosis and treatment. We are presenting here one such congenital diaphragmatic hernia. In North Bengal Medical College a fullterm female baby was delivered with respiratory distress, scaphoid abdomen and cyanosis. Immediately chest X-ray and CT scan of thorax and abdomen was done to assess symptomatically and clinically suspected case of congenital diaphragmatic hernia. It was a case of right sided congenital diaphragmatic hernia. The presented case report might help us to remain conscious about such congenital anomaly in a case of respiratory distress and help us to chalk out the immediate measurements accordingly to save lives of those unfortunate newborns. 相似文献
8.
O Fajolu 《Journal of the National Medical Association》1984,76(12):1163-1164
A review of ten years of experience with traumatic diaphragmatic hernia, an often-missed injury, is presented. The unusual occurrence of a right diaphragmatic hernia following blunt trauma, which occurred in one patient, prompted this retrospective review. A high index of suspicion is still a safeguard against missing this injury. The mechanism of diaphragmatic tear with blunt trauma is described and modes of diagnosis and treatment are discussed. 相似文献
9.
目的探讨影响先天性膈疝(CDH)患儿生存率的危险因素。方法青岛市第八人民医院产科1995年10月至2010年09月15年间分娩临床资料完整的CDH患儿11例,回顾性分析出生胎龄、母体分娩方式、诊断时机、患儿染色体核型、膈疝发生的部位、合并的其他结构畸形、是否有肝突出、纵膈移位等因素。结果 11例CDH中单纯CDH 6例,染色体核型异常CDH 3例,伴相关结构畸形者4例(其中2例同时伴染色体核型异常)。左侧膈疝8例,右侧膈疝3例。产前诊断1例,其余均产后诊断或死亡后尸检诊断。患儿的总体病死率为81.8%。其中围产儿死亡率72.7%(8/11),新生儿晚期死亡率9.1%(1/11),幸存率18.2%(2/11)。结论 CDH患儿病死率很高。右侧膈疝、肝突出、纵膈移位等可能是单纯性CDH预后不良的危险因素。CDH合并相关结构畸形和染色体核型异常者预后不良。加强产前诊断中高危因素的评估有望提高CDH幸存率。 相似文献
10.
Alain Verloes Laurence Perrin Kathy Delbecque Marie Gonzales Martine Demarche Guy Dekoster 《European journal of medical genetics》2010,53(3):133-135
Congenital absence of the left pericardium (allowing communication between pericardial and pleural cavities) is a rare developmental defect that results from faulty partitioning of the pleuropericardic cavity during the 5th week of development. It occurs sporadically in most instances, and may be associated with other malformations of the thoracic viscera. We report here two sibs born to consanguineous parents with absent left fibrous pericardium and developmental defects of the septum transversum: left posterolateral diaphragmatic hernia in one child, left diaphragmatic eventration in the other sib. This appears to be the first familial report of this rare association. 相似文献
11.
Morgagni hernia is a rare diaphragmatic hernia accounting for only 2% of the congenital diaphragmatic defects. A case of Morgagni hernia was diagnosed radiologically in a 12-months-old male with Down syndrome, with recurrent respiratory distress and chest deformity. The 2-dimensional echocardiography was normal. The diagnosis of Morgagni hernia was confirmed by barium studies. The patient underwent a corrective surgery at 18 months of age following which his symptoms subsided. Literature review revealed only 18 cases of Morgagni hernia with Down syndrome reported till date, with age of presentation varying from neonatal age group to 12 years of age. The mode of presentations varied from asymptomatic detection to severe respiratory distress. The possible mechanism of association and its clinical implication has been discussed. The case emphasises a need for diaphragmatic hernia to be looked for as a possible cause of respiratory distress in Down syndrome. 相似文献
12.
Familial prevalence of uterine fibroids is associated with distinct clinical and molecular features 总被引:3,自引:0,他引:3
BACKGROUND: Although uterine fibroids are very common, their pathogenesis and clinical behaviour are poorly understood. Since they may be prevalent in some families, we investigated whether such a prevalence was associated with distinctive clinical and molecular features. METHODS: A case-control questionnaire study of 300 multi-ethnic women with uterine fibroids at a London university hospital was undertaken, with review of case notes and immunohistochemical determination of vascular endothelial growth factor (VEGF-A) in fibroids. RESULTS: When compared with families with sporadic fibroids, familial prevalence of fibroids was associated with a higher incidence of abdominal swelling (59.1% versus 41.6%; P=0.037), menorrhagia (84.4% versus 51.9%; P=0.042), dysmenorrhoea (64.4% versus 46.3%; P=0.004), dyspareunia (43.2% versus 27.9%; P=0.012) and family history of cancers (52.3% versus 32.4%; P<0.01). The fibroids were also more multiple (mean +/- SEM: 7 +/- 0.86 versus 3 +/- 0.42; P<0.011) and strong VEGF-A expression in fibroids was more common in the familial group (64% versus 28%). Racial distribution was the same in both groups (blacks 49%, whites 33.4%, others 18.6%). CONCLUSIONS: Familial prevalence of uterine fibroids is associated with distinct clinical and molecular features that differ from those found when fibroids occur sporadically in families. 相似文献
13.
We report on a pair of monozygotic twins with Fryns syndrome discordant for severity of diaphragmatic defect. Both twins had macrocephaly, "coarse" facial appearance, hypoplasia of distal phalanges, and an extra pair of ribs. Twin A lacked an apparent diaphragmatic defect, and at 1 year of age had mild developmental delay. Twin B had a left congenital diaphragmatic hernia and died neonatally. Absence of diaphragmatic defect in Fryns syndrome may represent a subpopulation of more mildly affected patients whose developmental outcome is currently undetermined. 相似文献
14.
Reijo Norio Helena Kriinen Juhani Rapola Ritta Herva Martti Kekomki 《American journal of medical genetics. Part A》1984,17(2):471-483
We present 14 familial cases from five Finnish families affected with a life-threatening congenital diaphragmatic defect (CDD) and review data on 53 previously published familial cases. CDD occurred in three sibs and their half brother's son, and probably in all four offspring of parents consanguineous as both first and second cousins. In the remaining three Finnish families and in the vast majority of the previously reported familial cases, only two sibs were affected. Two thirds of those affected were males both in the Finnish and the overall series. Pedigree data, delayed fusion of the diaphragm as the primary pathogenetic mechanism, varying anatomical structure of the defective hemidiaphragm, association with other congenital anomalies, and data on animal experiments are more in accordance with multifactorial determination than with recessive inheritance. This does not exclude other genetic causes in some familial cases. The recurrence risk for sibs after one affected sib is about 2%. As the prognosis, especially in familial cases of CDD has remained grave, the development of fetal surgical treatment is desirable. This emphasizes the future role of prenatal diagnosis by ultrasound. 相似文献
15.
Congenital diaphragmatic hernia in WAGR syndrome 总被引:5,自引:0,他引:5
Scott DA Cooper ML Stankiewicz P Patel A Potocki L Cheung SW 《American journal of medical genetics. Part A》2005,134(4):430-433
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. WT1 is required for normal formation of the genitourinary system and the high incidence of Wilms tumor and genitourinary anomalies found in patients with WAGR are attributed to haploinsufficiency of this gene. It has been hypothesized that WT1 also plays an important role in the development of the diaphragm. During mammalian embryonic development, WT1 is expressed in the pleural and abdominal mesothelium that forms part of the diaphragm. Furthermore, mice that are homozygous for a deletion in the mouse homolog of WT1 have diaphragmatic hernias. Case reports describing congenital diaphragmatic hernias in infants with Denys-Drash and Frasier syndromes, both of which can be caused by mutations in WT1, provide additional support for this hypothesis. We report an infant with aniridia, bilateral cryptorchidism, vesicoureteral reflux, and a right-sided Morgagni-type diaphragmatic hernia. G-banded chromosome analysis revealed a deletion of 11p12-p15.1. Breakpoint regions were refined by fluorescence in situ hybridization (FISH) and deletion of the WAGR critical region, including WT1, was confirmed. A review of the medical literature identified a second patient with a deletion of 11p13, a left-sided Bochdalek-type diaphragmatic hernia, and anomalies that suggest a diagnosis of WAGR including bilateral microphthalmia, a small penis, bilateral cryptorchidism, and a hypoplastic scrotum. These cases demonstrate that congenital diaphragmatic hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital diaphragmatic hernia. 相似文献
16.
Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree.
下载免费PDF全文
![点击此处可从《Journal of medical genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
We report four cases of congenital diaphragmatic hernia occurring in two generations of a consanguineous Pakistani family. The affected subjects resembled no recognised genetic syndrome. This family provides further evidence for possible autosomal recessive inheritance of congenital diaphragmatic hernia in some cases. 相似文献
17.
《European journal of medical genetics》2022,65(5):104501
We report on three male siblings who presented prenatally with a nearly identical combination of congenital anomalies and who died shortly after preterm birth. The first baby was a singleton pregnancy, and the other two babies were dichorionic diamniotic twins. Key features included: left-sided congenital diaphragmatic hernia, inferior vermian dysgenesis/hypoplasia, prenasal edema, cleft palate, micropenis/ambiguous genitalia (in 2 of 3 babies), bilateral renal pelvic dilatation (in twins, first baby showed slightly enlarged kidneys) and polyhydramnios (in 2 of 3). Whole genome sequencing performed on DNA from all three babies revealed homozygous missense PIGL gene variants: c.438C>A, p.(Phe146Leu). Both parents were heterozygous carriers of the variant. The reporting clinical laboratory classified the change as a variant of uncertain significance (VUS), and concluded “A genetic diagnosis of autosomal recessive CHIME syndrome is possible”. The PIGL gene has been reported to cause two different autosomal recessive conditions: CHIME syndrome and Mabry syndrome. CHIME (Zunich neuroectodermal syndrome) is characterized by ocular Colobomas, Heart defects, Ichthyosiform dermatosis, Mental retardation (intellectual disability), and Ear anomalies, including conductive hearing loss. Mabry [aka hyperphosphatasia mental retardation syndrome (HPMRS)] is characterized by severe developmental delay, moderate to severe intellectual disability, distinctive facial features, brachytelephalangy, increased serum levels of alkaline phosphatase (ALP), and recurrent seizures. Neonatal demise and lack of postmortem examination precluded assessment of some key features (including seizures, developmental delay, ALP levels, colobomas and deafness), but overlapping features observed included cleft palate, brain anomalies, genitourinary abnormalities and prenasal edema. Notably, diaphragmatic hernia is not a common feature of either condition, but is a cardinal feature of Fryns syndrome. The genetic etiology of Fryns syndrome has not been definitively established, although, much like CHIME and Mabry syndrome, can be caused by variants in glycosylphosphatidylinositol (GPI) anchor pathway genes. Our findings suggest further overlap between inherited GPI deficiencies, and possible expansion of the clinical phenotype of PIGL-related disorders to include prenatal presentations with congenital diaphragmatic hernia. Although reported as a VUS, we present phenotypic and familial segregation evidence that supports likely pathogenicity of the c.438C>A variant. 相似文献
18.
Y Nakamura I Yamamoto S Fukuda T Hashimoto 《Archives of pathology & laboratory medicine》1991,115(4):372-376
Pulmonary acinar development was assessed in 17 autopsy cases of pulmonary hypoplasia associated with diaphragmatic hernia. Morphologic examination was conducted by light and electron microscopy, and morphometric study was achieved by radial alveolar count and biochemical quantitation of surfactant phospholipid. In most cases of unilateral diaphragmatic hernia, the ipsilateral lung was underdeveloped morphologically and biochemically compared with the contralateral lung. However, both ipsilateral and contralateral lungs were well developed in some cases of unilateral diaphragmatic hernia. Thus, acinar development of hypoplastic lung in diaphragmatic hernia is varied. The influence of other conditions, such as oligohydramnios, polyhydramnios, and other anomalies that may influence retention of lung fluid or fetal respiratory movement, should be considered to assess the acinar development of hypoplastic lung in diaphragmatic hernia. 相似文献
19.
Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia
Petit F Andrieux J Holder-Espinasse M Bouquillon S Pennaforte T Storme L Manouvrier-Hanu S 《European journal of medical genetics》2011,54(5):e525-e527
Congenital diaphragmatic hernia (CDH) has an incidence of around 1/3000 births. Chromosomal anomalies constitute an important etiology for non-isolated CDH, and may participate to the identification of candidate genes for diaphragm development. We report on a microduplication identified by array-CGH (comparative genomic hybridization) including five contiguous genes (OPHN1, YIPF6, STARD8, EFNB1 and PJA1) and arising de novo in a male presenting a congenital diaphragmatic hernia (CDH). Our case is the second report of EFNB1 duplication associated with CDH in a male patient, supporting its implication sensitive to gene dosage in diaphragm development. 相似文献
20.
Sanford EF Bermudez-Wagner K Jeng LJ Rauen KA Slavotinek AM 《American journal of medical genetics. Part A》2011,(11):2816-2820
We report on a 7-month-old girl with Smith-Magenis syndrome (SMS) due to a 4.76-Mb deletion of 17p12-17p11.2 detected by array comparative genomic hybridization. She was also affected with a left-sided congenital diaphragmatic hernia (CDH) and cardiac anomalies including an atypical atrioventricular canal defect and a cleft mitral valve. To our knowledge, this is the first reported case of a patient with both SMS and CDH. There are numerous chromosomal regions in which duplications, deletions, inversions, or translocations have been associated with CDH, but none have previously been reported at or close to 17p11.2. We discuss candidate genes for the diaphragmatic defect in this patient. Our case demonstrates that it is important to consider the possibility of SMS in non-isolated cases of diaphragmatic hernia. 相似文献