Spondylocostal dysostosis (SCDO) encompasses a group of skeletal disorders characterized by multiple segmentation defects in the vertebrae and ribs. SCDO has a complex genetic etiology. This study aimed to analyze and identify pathogenic variants in a fetus with SCDO. Copy number variant sequencing and whole exome sequencing were performed on a Chinese fetus with SCDO, followed by bioinformatics analyses, in vitro functional assays and a systematic review on the reported SCDO cases with LFNG pathogenic variants. Ultrasound examinations in utero exhibited that the fetus had vertebral malformation, scoliosis and tethered cord, but rib malformation was not evident. We found a novel homozygous variant (c.1078 C > T, p.R360C) within the last exon of LFNG. The variant was predicted to cause loss of function of LFNG by in silico prediction tools, which was confirmed by an in vitro assay of LFNG enzyme activity. The systematic review listed a total of 20 variants of LFNG in SCDO. The mutational spectrum spans across all exons of LFNG except the last one. This study reported the first Chinese case of LFNG-related SCDO, revealing the prenatal phenotypes and expanding the mutational spectrum of the disorder.

To report a case of prenatal diagnosis of ectopic intrathoracic kidney with diaphragmatic hernia managed surgically after birth, and to conduct a review of the literature on prenatal diagnosis of ectopic intrathoracic kidney and perinatal prognosis.
We report the case of a 28-week fetus in which, on ultrasound imaging, a mass was observed displacing the heart and lung in the right hemithorax, which was was confirmed by magnetic resonance (MR) to be an ectopic intrathoracic kidney (ITEK). After birth, the neonate was approached by laparoscopy to place a mesh in continuity with the diaphragm, leaving the kidney in the abdomen, with good evolution. A search was conducted in the PubMed, Embase and Cochrane databases for cohorts, case reports and case series of prenatal diagnosis of intrathoracic kidney in the fetus. Information was retrieved regarding design, population, imaging diagnosis, treatment and prognosis.
The search identified 8 studies that met the inclusion criteria, reporting a total of 8 cases. Ultrasound diagnosis showed ectopic intrathoracic kidney associated with diaphragmatic hernia in all the subjects. Fetal magnetic resonance imaging (MRI) was also used in 5 cases.
Ectopic intrathoracic kidney is a congenital abnormality amenable to prenatal diagnosis. Survival after corrective surgery performed in the neonatal period is common. There is a paucity of publications, limited to case reports, regarding the prenatal diagnosis of this condition.
reportar un caso de diagnóstico prenatal de riñón ectópico intratorácico (REI) con hernia diafragmática y manejo quirúrgico neonatal, y hacer una revisión de la literatura sobre diagnóstico prenatal de REI y el pronóstico perinatal.
se reporta el caso de un feto de 28 semanas en el que se observó imagen ecográfica sugestiva de masa en hemitórax derecho que desplazaba corazón y pulmón; se confirmó que correspondía a un riñón intratorácico. Por laparoscopia, al recién nacido se le colocó una malla en continuidad con el diafragma dejando el riñón en el abdomen, con buena evolución. Se realizó una búsqueda bibliográfica en PubMed, Embase y Cochrane. Se buscaron cohortes, reportes y series de caso de gestaciones con diagnóstico prenatal de riñón intratorácico fetal. Se extrajo información del diseño, la población, el diagnóstico por imágenes, el tratamiento y el pronóstico.
en la búsqueda se identificaron 8 estudios que cumplieron con los criterios de inclusión y que informan en total ocho casos. El diagnóstico ecográfico mostró REI asociado a hernia diafragmática en todos los sujetos. Se utilizó también la RM fetal en cinco casos. Seis neonatos sobrevivieron sin complicaciones, en uno hubo interrupción voluntaria del embarazo, y otro presentó sepsis y dificultad respiratoria, finalmente fue dado de alta en buenas condiciones.
el REI es una anomalía congénita susceptible de diagnóstico prenatal. La sobrevida a la cirugía correctora en el periodo neonatal es frecuente. La literatura disponible en torno al diagnóstico prenatal de REI es escasa y se limita a reportes de casos.

Fetal inguinal hernia (FIH) is a rare event and only few cases were published in the medical literature. In the present study, we aimed to characterize the sonographic features, clinical presentation, management, outcomes, and differential diagnoses of FIH. Accordingly, we reviewed all 17 cases of FIH published in the medical literature, including one new case evaluated by our group. All 17 cases (100%) were male, and FIH is presented as a scrotal mass with a mean diameter of 38 ± 9.5 mm. The right side was dominant (62%). Peristalsis was reported in 80% of the cases, and blood flow was reported in two-thirds. Most cases were diagnosed in the third trimester (88%) at a mean gestational age (GA) of 33.1 ± 5.2 weeks. 60% of the cases had isolated FIH, and 40% had another sonographic or genetic abnormality. Three cases (18%) were syndromic with multiple malformations: trisomy 18, skeletal anomalies due to Jarcho-Levin syndrome, and undefined multiple joint contractures. Two cases (12%) had copathologies in the gastrointestinal tract: one had an echogenic bowel due to homozygosity for cystic fibrosis, and the other had low anorectal malformation. Bowel loop dilatation was observed prenatally in both cases and in another one isolated case (18%). GA at delivery was 38 ± 1.8 weeks, and the median time between diagnosis and delivery was 3 weeks. All three cases of neonatal death occurred in syndromic fetuses. All patients with nonsyndromic inguinal hernias underwent definitive surgical repair at a median of 13 days postpartum. No signs of strangulation and only one case of edematous bowel without necrosis have been reported. In conclusion, FIH should be suspected in male fetuses when an intrascrotal mass with peristalsis is diagnosed during the third trimester. Close follow-up until term in the absence of signs of bowel obstruction is reasonable, and in isolated FIH, the prognosis is favorable.

BACKGROUND: Post-hepatectomy diaphragmatic hernia is the second most common cause of acquired diaphragmatic hernia. This study aims to review the literature on this complication\'s incidence, treatment and prognosis.
METHODS: Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we systematically searched PubMed for all studies related to acquired diaphragmatic hernias after hepatectomy.
RESULTS: We included 28 studies in our final analysis, comprising 11,368 hepatectomies. The incidence of post-hepatectomy diaphragmatic hernia was 0.75% (n = 86). The most frequent type of hepatectomy performed was right hepatectomy (79%, n = 68), and the indications for liver resection were a liver donation for living donor transplantation (n = 40), malignant liver tumors (n = 13), and benign tumors (n = 11). The mean onset between liver resection and the diagnosis of diaphragmatic hernia was 25.7 months (range, 1-72 months), and the hernia was located on the right diaphragm in 77 patients (89.5%). Pain was the most common presenting symptom (n = 52, 60.4%), while six patients were asymptomatic (6.9%). Primary repair by direct suture was the most frequently performed technique (88.3%, n = 76). Six patients experienced recurrence (6.9%), and three died before diaphragmatic hernia repair (3.5%).
CONCLUSIONS: Diaphragmatic hernia is a rare complication occurring mainly after right liver resection. Repair should be performed once detected, given the not-negligible associated mortality in the emergency setting.

A diaphragmatic hernia is the protrusion of abdominal tissues into the thoracic cavity secondary to a defect in the diaphragm. Reviewing the literature, we found only 44 references to diaphragmatic hernia secondary to percutaneous radiofrequency treatment. The vast majority of these cases were secondary to the treatment of hepatocellular carcinoma in segments V and VIII. Nevertheless, to date, this is the first reported case of diaphragmatic hernia after radiofrequency ablation of a liver metastasis from colorectal cancer. Complications secondary to diaphragmatic hernias are very diverse. The principal risk factor for complications is the contents of the hernia; when small bowel or colon segments protrude in the thoracic cavity, they can become incarcerated. Asymptomatic cases have also been reported in which the diaphragmatic hernia was discovered during follow-up. The pathophysiological mechanism is not totally clear, but it is thought that these diaphragmatic hernias might be caused by locoregional thermal damage. Given that most communications correspond to asymptomatic and/or treated cases, it is likely that the incidence is underestimated. However, due to the advent of percutaneous treatments, this complication might be reported more often in the future. Most cases are treated with primary herniorrhaphy, done with a laparoscopic or open approach at the surgeon\'s discretion; no evidence supports the use of one approach over the other. Nevertheless, it seems clear that surgery is the only definitive treatment, as well as the treatment of choice if complications develop. However, in asymptomatic patients in whom a diaphragmatic hernia is discovered in follow-up imaging studies, management should probably be guided by the patient\'s overall condition, taking into account the potential risks of complications (contents, diameter of the opening into the thoracic cavity …).

BACKGROUND: Radiofrequency ablation is an effective management modality for irresectable primary and secondary liver tumors. Some serious complications have been reported including diaphragmatic hernia. Diaphragmatic hernia is the protrusion of abdominal viscera into the thoracic cavity through a diaphragmatic defect and usually classified into congenital and acquired. After RFA, diaphragmatic hernia is a rarely-reported complication.
METHODS: A 62-year-old male patient, known to have liver cirrhosis on top of hepatitis C virus, presented to the emergency department with generalized abdominal pain and vomiting four months after having a RFA procedure for a liver tumor in segment VIII. Computed tomography showed diaphragmatic hernia with strangulated terminal ileum in the chest. Emergency laparotomy was performed with resection of an ileal segment and creation of double barrel ileostomy. The patient was discharged in a good condition after tolerating oral intake.
CONCLUSIONS: Radiofrequency ablation is an effective modality for management of the primary and secondary liver tumors. Despite its safety, some complication may happen owing to its thermal effect and the associated patients general condition. Many techniques have been described to decrease its thermal injury. Diaphragmatic hernia is a rare complication after RFA. Its clinical presentation may be confusing and it may occur as early as one month after RFA. Its diagnosis depends mainly on computed tomography. Emergency surgical management is the standard approach.

We present three new cases and review of the literature on the prenatal diagnosis of Emanuel syndrome (ES). Twenty-one foetuses have been analysed. In all three cases diagnosed in our department, posterior fossa abnormalities were seen and in one hypoplastic right ventricle was diagnosed at the first trimester scan. Defects of the posterior fossa (62% of foetuses; 13/21) and left diaphragmatic hernia (29% of foetuses; 6/21) are the most frequently reported prenatal findings in ES syndrome. No pattern of specific prenatal ultrasound markers of ES exists. Abnormalities of the posterior fossa are frequent and may be diagnosed as early as in the first trimester of pregnancy. Specific diagnosis can be made only after invasive genetic testing.IMPACT STATEMENTWhat is already known on this subject? Emanuel syndrome (ES) is a rare genetic disorder. No pattern of specific prenatal ultrasound markers exists. The great majority of cases is diagnosed postnatally and only a few cases of prenatal diagnosis have been published to date.What do the results of this study add? The most frequent structural abnormalities in prenatally detected ES involved central nervous system (80.9%), namely posterior fossa defects (57.1%) and mild ventriculomegaly (23.8%). Other frequent abnormalities include left diaphragmatic hernia (28.6%), renal defects (23.8%) and foetal growth restriction (FGR) (23.8%).What are the implications of these findings for clinical practice and/or further research? Abnormalities of the posterior fossa are the most frequent defects in ES and may be diagnosed as early as in the first trimester of pregnancy. Specific diagnosis can be made only after invasive genetic testing.

Mesh implants are regularly used to help repair both hiatus hernias (HH) and diaphragmatic hernias (DH). In vivo studies are used to test not only mesh safety, but increasingly comparative efficacy. Our work examines the field of in vivo mesh testing for HH and DH models to establish current practices and standards.
This systematic review was registered with PROSPERO. Medline and Embase databases were searched for relevant in vivo studies. Forty-four articles were identified and underwent abstract review, where 22 were excluded. Four further studies were excluded after full-text review-leaving 18 to undergo data extraction.
Of 18 studies identified, 9 used an in vivo HH model and 9 a DH model. Five studies undertook mechanical testing on tissue samples-all uniaxial in nature. Testing strip widths ranged from 1-20 mm (median 3 mm). Testing speeds varied from 1.5-60 mm/minute. Upon histology, the most commonly assessed structural and cellular factors were neovascularisation and macrophages respectively (n = 9 each). Structural analysis was mostly qualitative, where cellular analysis was equally likely to be quantitative. Eleven studies assessed adhesion formation, of which 8 used one of four scoring systems. Eight studies measured mesh shrinkage.
In vivo studies assessing mesh for HH and DH repair are uncommon. Within this relatively young field, we encourage surgical and materials testing institutions to discuss its standardisation.

UNASSIGNED: Acquired diaphragmatic hernia is a rare complication following liver surgery in adult and pediatric patients. This study aims to describe main features occurring in adult and pediatric patients after liver surgery and report an up-date review of the literature.
UNASSIGNED: All adult and pediatric patients who were diagnosed with postoperative acquired diaphragmatic hernia in Lyon and Marseille University Hospitals were included in this study. Diagnosis, clinical, radiologic, and therapeutic data were analysed retrospectively from medical papers and/or electronic records.
UNASSIGNED: Thirteen adults with a median age of 50 years (range, 30-67 years) and 5 children aged 2.4 years (range, 0.9-4 years) were diagnosed with acquired diaphragmatic hernia after a median time of 65.1 (range, 1.8-244.7) and 2 (range, 0.33-10.9) months, respectively, following surgeries (5 live-donor right hepatectomies, 5 right and 1 left hepatectomies for tumors and cysts, and 2 whole liver transplantations in adults; and 5 liver transplantations with left lateral section in children). Eleven patients presented digestive and/or thoracic symptoms whereas seven were asymptomatic and diagnosed by routine imaging follow-up. All patients were re-operated with a median delay of 2.4 months (range, 0-25.3 months) for adults and 1 day (range, 0-2 days) for children. Two recurrences resulted in a secondary surgical repair.
UNASSIGNED: Acquired diaphragmatic hernia is a rare and potentially serious event after liver surgery. Recognition and surgical repair of this particular complication should be considered in the setting of unexplained abdominal and/or thoracic symptoms. Preventive measures should be taken intraoperatively.

An iatrogenic diaphragmatic hernia after major hepatic resection is a rare complication. Incarceration of the abdominal organ through a diaphragmatic defect can have a fatal prognosis. Here, we report a case of incarcerated diaphragmatic hernia after right hepatectomy, which was diagnosed only after the autopsy. The deceased, who had right hepatectomy 1 year previously, complained of severe chest pain, and 4 days later was found dead. Localized decomposition in his chest and abdomen suggested a late complication of the surgery because the location was consistent with the prior surgical area. In the autopsy, there was a small defect in his right diaphragm, resulting in the herniation and incarceration of the small intestine. Gross and microscopic findings of the herniated small intestine were consistent with ischemic enteritis. Different from our case, most of the previously reported cases showed a good prognosis after surgical repair, except one lethal one. Even though its overall incidence is very low, an incarcerated diaphragmatic hernia is one of the critical complications of major hepatic resection. The clinicians should warn the patients to avoid preventable morbidity and mortality. Reviewing this fatal complication would be also helpful for forensic pathologists and death investigators.