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Keywords = diaphragm hernia

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17 pages, 623 KB  
Review
Epithelial Dysfunction in Congenital Diaphragmatic Hernia: Mechanisms, Models and Emerging Therapies
by Ophelia Aubert, Olivia M. Dinwoodie, Richard Wagner and Xingbin Ai
Cells 2025, 14(10), 687; https://doi.org/10.3390/cells14100687 - 9 May 2025
Cited by 1 | Viewed by 2429
Abstract
Congenital diaphragmatic hernia (CDH) is a complex disorder whereby improper formation of the diaphragm allows herniation of the internal organs into the thoracic cavity, resulting in pulmonary hypoplasia among other complications. Although epithelial dysfunction is central to CDH pathology, relatively little attention has [...] Read more.
Congenital diaphragmatic hernia (CDH) is a complex disorder whereby improper formation of the diaphragm allows herniation of the internal organs into the thoracic cavity, resulting in pulmonary hypoplasia among other complications. Although epithelial dysfunction is central to CDH pathology, relatively little attention has been paid to the underlying mechanisms orchestrating epithelial malfunction. Proinflammatory signaling downstream of impaired mechanotransduction due to in utero lung compression has been elucidated to drive epithelial cell phenotypes. This has been illustrated by a reduction in nuclear YAP and the upregulation of NF-kB in CDH models. In this review, we draw from recent findings using emerging technologies to examine epithelial cell mechanisms in CDH and discuss the role of compression as a central and, crucially, sufficient driver of CDH phenotypes. In recognition of the limitations of using genetic knockout models to recapitulate such a heterogenic and etiologically complicated disease, we discuss alternative models such as the established nitrofen rat model, air–liquid interface (ALI) cultures, organoids and ex vivo lung explants. Throughout, we acknowledge the importance of involving mechanical compression in the modeling of CDH in order to faithfully recapitulate the disease. Finally, we explore novel therapeutic strategies from stem cell and regenerative therapies to precision medicine and the importance of defining CDH endotypes in order to guide treatments. Full article
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34 pages, 13453 KB  
Review
The Perception of the Diaphragm with Ultrasound: Always There Yet Overlooked?
by Kathleen Möller, Max Saborio, Heike Gottschall, Michael Blaivas, Adrian C. Borges, Susanne Morf, Burkhard Möller and Christoph F. Dietrich
Life 2025, 15(2), 239; https://doi.org/10.3390/life15020239 - 5 Feb 2025
Cited by 3 | Viewed by 8935
Abstract
Diaphragm ultrasound makes it possible to diagnose diaphragmatic atrophy and dysfunction. Important indications include unclear dyspnea; diaphragmatic elevation; assessment of diaphragm dysfunction in pulmonary, neuromuscular and neurovascular diseases; and in critically ill patients before noninvasive and mechanical ventilation and follow-up of diaphragm thickness [...] Read more.
Diaphragm ultrasound makes it possible to diagnose diaphragmatic atrophy and dysfunction. Important indications include unclear dyspnea; diaphragmatic elevation; assessment of diaphragm dysfunction in pulmonary, neuromuscular and neurovascular diseases; and in critically ill patients before noninvasive and mechanical ventilation and follow-up of diaphragm thickness and function during mechanical ventilation with potential prediction of prolonged weaning. In patients with respiratory insufficiency and potential diaphragm dysfunction, it is possible to objectify the contribution of diaphragm dysfunction. In addition, assessment of diaphragmatic hernias, tumors and diaphragmatic dysfunction in COVID-19 and diaphragmatic ultrasound in sports medicine have been described. This narrative review includes the sonomorphology of the diaphragm, standardization of ultrasonographic investigation with transducer positions and ultrasound techniques, normal findings and diagnostic criteria for pathological findings. The correct sonographic measurement, calculation and evaluation can ultimately influence further therapeutic procedures for the patient suffering from diaphragm dysfunction in various diseases. Full article
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18 pages, 1147 KB  
Entry
Understanding the Gut-Heart Axis in Roemheld Syndrome: Mechanisms and Clinical Insights
by Bryan J. Mathis, Ryuji Suzuki, Yukihito Kuroda, Hideyuki Kato and Yuji Hiramatsu
Encyclopedia 2024, 4(4), 1721-1738; https://doi.org/10.3390/encyclopedia4040113 - 21 Nov 2024
Cited by 1 | Viewed by 41506
Definition
This entry reviews the health condition known as Roemheld syndrome, or gastrocardiac syndrome in modern medicine. A pathology of gastrointestinal origin, the syndrome relies on a gut–brain–heart triad, interconnected by the vagus nerve. Pressure from the intestines pushes the stomach into the diaphragm [...] Read more.
This entry reviews the health condition known as Roemheld syndrome, or gastrocardiac syndrome in modern medicine. A pathology of gastrointestinal origin, the syndrome relies on a gut–brain–heart triad, interconnected by the vagus nerve. Pressure from the intestines pushes the stomach into the diaphragm and activates the vagus nerve, which affects the heart rate and gives the perception of cardiac issues. This distressing sensation, which usually comes after meals or with other digestive problems, causes anxiety or panic. Although events not arising from anatomic abnormalities are relatively harmless, hypersensitivity to these uncomfortable sensations may precipitate psychiatric problems (anxiety or depression) that cause repeated gastrocardiac events through sympathetic activation and the disruption of peristalsis. Treatment is usually symptomatic and may include diet, lifestyle changes, probiotics, or prescriptions that increase gut motility, but this specific set of reproducible symptoms may also be caused by hiatal hernia or side effects from medication/surgery and treated with respect to those mechanical causes. This review highlights details from the most current knowledge of the condition and offers suggestions for clinical management based on the literature. Full article
(This article belongs to the Section Medicine & Pharmacology)
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18 pages, 1052 KB  
Review
Adoption of the Robotic Platform across Thoracic Surgeries
by Kaity H. Tung, Sai Yendamuri and Kenneth P. Seastedt
J. Clin. Med. 2024, 13(19), 5764; https://doi.org/10.3390/jcm13195764 - 27 Sep 2024
Cited by 12 | Viewed by 3565
Abstract
With the paradigm shift in minimally invasive surgery from the video-assisted thoracoscopic platform to the robotic platform, thoracic surgeons are applying the new technology through various commonly practiced thoracic surgeries, striving to improve patient outcomes and reduce morbidity and mortality. This review will [...] Read more.
With the paradigm shift in minimally invasive surgery from the video-assisted thoracoscopic platform to the robotic platform, thoracic surgeons are applying the new technology through various commonly practiced thoracic surgeries, striving to improve patient outcomes and reduce morbidity and mortality. This review will discuss the updates in lung resections, lung transplantation, mediastinal surgeries with a focus on thymic resection, rib resection, tracheal resection, tracheobronchoplasty, diaphragm plication, esophagectomy, and paraesophageal hernia repair. The transition from open surgery to video-assisted thoracoscopic surgery (VATS) to now robotic video-assisted thoracic surgery (RVATS) allows complex surgeries to be completed through smaller and smaller incisions with better visualization through high-definition images and finer mobilization, accomplishing what might be unresectable before, permitting shorter hospital stay, minimizing healing time, and encompassing broader surgical candidacy. Moreover, better patient outcomes are not only achieved through what the lead surgeon could carry out during surgeries but also through the training of the next generation via accessible live video feedback and recordings. Though larger volume randomized controlled studies are pending to compare the outcomes of VATS to RVATS surgeries, published studies show non-inferiority data from RVATS performances. With progressive enhancement, such as overcoming the lack of haptic feedback, and future incorporation of artificial intelligence (AI), the robotic platform will likely be a cost-effective route once surgeons overcome the initial learning curve. Full article
(This article belongs to the Section General Surgery)
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11 pages, 3787 KB  
Case Report
True Diaphragmatic Hernia (Morgagni Hernia) Incidentally Diagnosed with Positive Contrast Peritoneography in a Cat: A Rare Case Report and a Review
by Jack-Yves Deschamps, Théo Corbarieu, Nour Abboud and Françoise A. Roux
Vet. Sci. 2024, 11(4), 159; https://doi.org/10.3390/vetsci11040159 - 1 Apr 2024
Viewed by 9584
Abstract
An 18-month-old neutered male domestic shorthair cat was presented for an emergency consultation after falling from the second floor. The cat sustained minor traumatic injuries but did not exhibit dyspnea. Routine radiographic examination raised suspicion of a diaphragmatic hernia, but the circumscribed nature [...] Read more.
An 18-month-old neutered male domestic shorthair cat was presented for an emergency consultation after falling from the second floor. The cat sustained minor traumatic injuries but did not exhibit dyspnea. Routine radiographic examination raised suspicion of a diaphragmatic hernia, but the circumscribed nature of the soft tissues visible in the thorax was atypical for a classic traumatic diaphragmatic hernia. A positive contrast peritoneography highlighted the likely presence of a hernial sac, which strongly suggested a “true diaphragmatic hernia”, also known as “pleuroperitoneal hernia”. This diagnosis was confirmed during laparotomy, which allowed for the visualization of a 3 cm radial diaphragmatic defect in the right ventral quadrant of the pars sternalis. The diaphragm’s edges were rounded. A portion of the falciform ligament and a part of the omentum were protruding through the defect and were contained within a hernial sac. Herniorrhaphy was performed. The cat recovered without complications. Given its presentation and location, ventrally and to the right, this anomaly is analogous to what is described in humans as “Morgagni hernia”. Six other cases of Morgagni hernias have probably been reported in cats but were not identified as such. This case underscores the utility of peritoneography, a straightforward technique useful for diagnosing diaphragmatic hernias, which enables differentiation between acquired traumatic forms and congenital forms, particularly peritoneopericardial hernias and pleuroperitoneal hernias. True diaphragmatic hernias are almost always serendipitous discoveries. Full article
(This article belongs to the Section Veterinary Surgery)
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16 pages, 2147 KB  
Article
Long-Term Evaluation of the Shape of the Reconstructed Diaphragm in Patients with Left-Sided Congenital Diaphragmatic Hernia Using Serial Chest Radiographs and Correlation to Further Complications
by Christoph von Schrottenberg, Maren Lindacker, Meike Weis, Sylvia Büttner, Thomas Schaible, Michael Boettcher, Lucas M. Wessel and Katrin B. Zahn
J. Clin. Med. 2024, 13(2), 620; https://doi.org/10.3390/jcm13020620 - 22 Jan 2024
Cited by 2 | Viewed by 1936
Abstract
Background: Defining risk factors for long-term comorbidities in patients after neonatal repair of congenital diaphragmatic hernia (CDH) is an important cornerstone of the implementation of targeted longitudinal follow-up programs. Methods: This study systematically assessed serial chest radiographs of 89 patients with [...] Read more.
Background: Defining risk factors for long-term comorbidities in patients after neonatal repair of congenital diaphragmatic hernia (CDH) is an important cornerstone of the implementation of targeted longitudinal follow-up programs. Methods: This study systematically assessed serial chest radiographs of 89 patients with left-sided CDH throughout a mean follow-up of 8.2 years. These geometrical variables for the left and right side were recorded: diaphragmatic angle (LDA, RDA), diaphragmatic diameter (LDD, RDD), diaphragmatic height (LDH, RDH), diaphragmatic curvature index (LDCI, RDCI), lower lung diameter (LLLD, RLLD) and thoracic area (LTA, RTA). Results: It was demonstrated that the shape of the diaphragm in patients with large defects systematically differs from that of patients with small defects. Characteristically, patients with large defects present with a smaller LDCI (5.1 vs. 8.4, p < 0.001) at 6 months of age, which increases over time (11.4 vs. 7.0 at the age of 15.5 years, p = 0.727), representing a flattening of the patch and the attached rudimentary diaphragm as the child grows. Conclusions: Multiple variables during early follow-up were significantly associated with comorbidities such as recurrence, scoliotic curves of the spine and a reduced thoracic area. Some geometrical variables may serve as surrogate parameters for disease severity, which is associated with long-term comorbidities. Full article
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15 pages, 2477 KB  
Article
Use of Barbed Sutures for Congenital Diaphragmatic Hernia Repair
by Nadine R. Muensterer, Elena Weigl, Anne-Sophie Holler, Christiane Zeller, Beate Häberle and Oliver J. Muensterer
Children 2024, 11(1), 35; https://doi.org/10.3390/children11010035 - 28 Dec 2023
Cited by 5 | Viewed by 2667
Abstract
Background: Congenital diaphragmatic hernia (CDH) repair can be challenging, particularly when a larger defect is present. Barbed sutures prevent the suture from slipping back after approximation of the tissues. Although introduced almost 2 decades ago, barbed sutures have not been widely used for [...] Read more.
Background: Congenital diaphragmatic hernia (CDH) repair can be challenging, particularly when a larger defect is present. Barbed sutures prevent the suture from slipping back after approximation of the tissues. Although introduced almost 2 decades ago, barbed sutures have not been widely used for CDH repair. We report our initial experience and pitfalls. Methods: All patients presenting with CDH from 2021 onward underwent repair using barbed sutures. Demographics, operative parameters, complications, and outcomes were prospectively recorded. Results: A total of 13 patients underwent CDH repair during the study interval (median age 6 days, range 3 days to 5.75 years). Median operative time was 89 min (range 46 to 288 min). Five thoracoscopic and eight open procedures were performed. Severe pulmonary hypertension and ECMO (extracorporeal membrane oxygenation) were considered contraindications for thoracoscopic repair. The included patients were compared to a historic controlled group performed without barbed sutures. The barbed suture facilitated easy and quick closure of the defects in most cases and obviated the need for knot tying. One patient in the thoracoscopic group had a patch placed due to high tension after the barbed sutures tore the diaphragm. At a median follow-up time of 15 months (range 2 to 34 months), one patient had died, and one patient with complete diaphragmatic agenesis was home-ventilated. There were no recurrences. Median operative time trended lower (89 min) than in the historic control group repaired without barbed sutures (119 min, p < 0.06) after eliminating outliers with large, complex patch repairs. Conclusions: Barbed sutures simplify congenital diaphragmatic hernia repair regardless of whether a minimal-invasive or open approach is performed. Patch repair is not a contraindication for using barbed sutures. The resulting potential time savings make them particularly useful in patients with cardiac or other severe co-morbidities in which shorter operative times are essential. In cases with high tension, though, the barbs may tear through and produce a “saw” effect on the tissue with subsequent damage. Full article
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7 pages, 14762 KB  
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Diaphragmatic Liver Herniation after Radiofrequency Ablation of a Secondary Liver Tumor
by David Hoskovec, Josef Hořejš, Zdeněk Krška, Soňa Argalácsová and Pavol Klobušický
Diagnostics 2024, 14(1), 26; https://doi.org/10.3390/diagnostics14010026 - 22 Dec 2023
Cited by 3 | Viewed by 1976
Abstract
Radiofrequency thermal ablation (RFA) is widely used and has been accepted for the treatment of unresectable tumors. The leading technique that is used is percutaneous RFA under CT or US guidance. Multicenter surveys report acceptable morbidity and mortality rates for RFA. The mortality [...] Read more.
Radiofrequency thermal ablation (RFA) is widely used and has been accepted for the treatment of unresectable tumors. The leading technique that is used is percutaneous RFA under CT or US guidance. Multicenter surveys report acceptable morbidity and mortality rates for RFA. The mortality rate ranges from 0.1% to 0.5%, the major complication rate ranges from 2% to 3%. Diaphragmatic injury is a rare complication and it is described after RFA of subdiaphragmatic tumors. Most of them are without clinical importance. There are some case reports about diaphragmatic herniation of the intestine into the pleural cavity. We present a case of diaphragmatic perforation resulting in the herniation of the liver into the pleural cavity. A thoracotomy was performed, the liver was lowered back into the peritoneal cavity and the perforation was closed with mesh. Full article
(This article belongs to the Collection Interesting Images)
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12 pages, 5899 KB  
Systematic Review
Prenatal Diagnosis of an Intrathoracic Left Kidney Associated with Congenital Diaphragmatic Hernia: Case Report and Systematic Review
by Giuliana Orlandi, Paolo Toscano, Olimpia Gabrielli, Enrica Di Lella, Antonia Lettieri, Luigi Manzo, Laura Letizia Mazzarelli, Carmine Sica, Letizia Di Meglio, Lavinia Di Meglio, Ferdinando Antonio Gulino, Giosuè Giordano Incognito, Attilio Tuscano, Stefano Cianci and Aniello Di Meglio
J. Clin. Med. 2023, 12(11), 3608; https://doi.org/10.3390/jcm12113608 - 23 May 2023
Cited by 11 | Viewed by 3103
Abstract
Introduction: A congenital intrathoracic kidney (ITK) is a rare anomaly that is recognized to have four causes: renal ectopia with an intact diaphragm, diaphragmatic eventration, diaphragmatic hernia, and traumatic diaphragmatic rupture. We report a case of a prenatal-diagnosed ITK related to a congenital [...] Read more.
Introduction: A congenital intrathoracic kidney (ITK) is a rare anomaly that is recognized to have four causes: renal ectopia with an intact diaphragm, diaphragmatic eventration, diaphragmatic hernia, and traumatic diaphragmatic rupture. We report a case of a prenatal-diagnosed ITK related to a congenital diaphragmatic hernia (CDH) and conducted a systematic review of all cases of the prenatal diagnosis of this association. Case presentation: A fetal ultrasound scan at 22 gestational weeks showed left CDH and ITK, hyperechoic left lung parenchyma, and mediastinal shift. The fetal echocardiography and karyotype were normal. Magnetic resonance imaging at 30 gestational weeks confirmed the ultrasound suspicion of left CDH in association with bowel and left kidney herniation. The fetal growth, amniotic fluid, and Doppler indices remained within the normal range over time. The woman delivered the newborn via an at-term spontaneous vaginal delivery. The newborn was stabilized and underwent non-urgent surgical correction; the postoperative course was uneventful. Conclusions: CDH is the rarest cause of ITK; we found only eleven cases describing this association. The mean gestational age at diagnosis was 29 ± 4 weeks and 4 days. There were seven cases of right and four cases of left CDH. There were associated anomalies in only three fetuses. All women delivered live babies, the herniated kidneys showed no functional damage after their surgical correction, and the prognosis was favorable after surgical repair. The prenatal diagnosis and counseling of this condition are important in planning adequate prenatal and postnatal management in order to improve neonatal outcomes. Full article
(This article belongs to the Special Issue Clinical Imaging Applications in Obstetrics and Gynecology)
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5 pages, 909 KB  
Interesting Images
Combined Disruption of the Thoracic Spine and Costal Arch Fracture: An Indicator of a Severe Chest Trauma
by Stefan Schulz-Drost, Stephan Kloesel, Jan Carsten Kühling, Axel Ekkernkamp and Mustafa Sinan Bakir
Diagnostics 2022, 12(9), 2206; https://doi.org/10.3390/diagnostics12092206 - 12 Sep 2022
Cited by 1 | Viewed by 3286
Abstract
Blunt high-energy chest trauma is often associated with thoracic and abdominal organ injuries. Literature for a hyperextension-distraction mechanism resulting in a costal arch fracture combined with a thoracic spine fracture is sparse. A 65-year-old male suffered a fall from a height of six [...] Read more.
Blunt high-energy chest trauma is often associated with thoracic and abdominal organ injuries. Literature for a hyperextension-distraction mechanism resulting in a costal arch fracture combined with a thoracic spine fracture is sparse. A 65-year-old male suffered a fall from a height of six meters. Initial X-ray of the chest shows left-sided high-riding diaphragm and CT scan proves anterior cartilage fracture, posterolateral serial rib fractures, traumatic intercostal pulmonary hernia, avulsion of the diaphragm, and 7th thoracic vertebral fracture. An exploratory thoracotomy was performed and the rupture of the diaphragm, creating a two-cavity injury, had been re-fixed, the pulmonary hernia was closed, and locking plate osteosyntheses of the fractured ribs including the costal arch were performed. We generally recommend surgical therapy of the thorax to restore stability in this severe injury entity. The spine was fixed dorsally using a screw-rod system. In conclusion, this thoracovertebral injury entity is associated with high overall injury severity and life-threatening thoracoabdominal injuries. Since two-cavity traumata and particularly diaphragmatic injuries are often diagnosed delayed, injuries to the costal arch can act as an indicator of severe trauma. They should be detected through clinical examination and assessment of the trauma CT in the soft tissue window. Full article
(This article belongs to the Special Issue Diagnosis and Management in Trauma Surgery)
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12 pages, 2254 KB  
Article
‘Back-and-Forth Stomach’ CT Imaging Findings of a Pathophysiologic Entity Causing Acute Gastric Volvulus
by Antonio Jesús Láinez Ramos-Bossini, Eduardo Ruiz Carazo and María Dolores Rabadán Caravaca
Tomography 2022, 8(1), 245-256; https://doi.org/10.3390/tomography8010019 - 21 Jan 2022
Cited by 9 | Viewed by 5142
Abstract
Background: Gastric volvulus (GV) is a life-threatening emergency condition that prompts emergent surgical management. With the advent of high-resolution computed tomography (CT), the role of radiologists in its diagnosis has become essential. Although many cases of GV have been described in the literature, [...] Read more.
Background: Gastric volvulus (GV) is a life-threatening emergency condition that prompts emergent surgical management. With the advent of high-resolution computed tomography (CT), the role of radiologists in its diagnosis has become essential. Although many cases of GV have been described in the literature, its pathophysiology is still poorly understood. In addition, there is substantial terminological confusion with associated entities such as paraesophageal hernia, upside-down stomach, organo-axial or chronic GV. Methods: We conducted a retrospective review of clinical, radiological findings and other relevant data for seven patients with previous radiological diagnoses of a large hiatus hernia who presented with acute GV to the emergency department of our institution. We report data on age, sex, medical history, clinical presentation, imaging, treatment and outcomes for each case. Results: The CT findings at acute presentation showed the antrum lying above the diaphragm and dilated fundus below the diaphragm. By comparing the position of the stomach at acute presentation with previous imaging examinations, we confirmed a hypothesis put forward by a few authors decades ago that re-herniation of the gastric fundus into the abdomen is a common pathophysiologic trigger leading to acute GV. This hypothesis has not been supported by modern imaging examinations. Conclusions: We have provided imaging evidence supporting that the pathophysiology of many GVs is based on caudal re-descent of hiatal hernia into the abdominal cavity. Given the terminological disparity used in the literature in this context, we believe it appropriate to introduce and extend the term ‘back-and-forth stomach’ to refer to this type of GV. Full article
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11 pages, 3780 KB  
Article
Total Perineal Prostatectomy: A Retrospective Study in Six Dogs
by Daniele Zambelli, Giulia Ballotta, Simona Valentini and Marco Cunto
Animals 2022, 12(2), 200; https://doi.org/10.3390/ani12020200 - 14 Jan 2022
Cited by 2 | Viewed by 6795
Abstract
Perineal hernia refers to the herniation of pelvic and abdominal viscera into the subcutaneous perineal region through a pelvic diaphragm weakness: a concomitant prostatic disease is observed in 25–59% of cases. Prostatectomy involves the removal of the prostate, either partially (partial prostatectomy) or [...] Read more.
Perineal hernia refers to the herniation of pelvic and abdominal viscera into the subcutaneous perineal region through a pelvic diaphragm weakness: a concomitant prostatic disease is observed in 25–59% of cases. Prostatectomy involves the removal of the prostate, either partially (partial prostatectomy) or completely (total prostatectomy). In case of complicated perineal hernia, staged procedures are recommended: celiotomy in order to perform colopexy, vasopexy, cystopexy, and/or to treat the prostatic disease, and perineal access in order to repair the perineal hernia. Very few reports relate prostatectomy using a perineal approach and, to the extent of the author’s knowledge, this technique has not been thoroughly investigated in the literature. The aim of this article is to retrospectively describe the total perineal prostatectomy in dogs presenting perineal hernia with concomitant prostatic diseases which required the removal of the gland. The experience in six dogs (three dogs with the prostate within hernial contents and three dogs with intrapelvic prostate) is reported as well as advantages, disadvantages, and limitations of the surgical procedure. In the authors’ clinical practice, total perineal prostatectomy has been a useful surgical approach to canine prostatic diseases, proven to be safe, well tolerated, and effective. Full article
(This article belongs to the Section Companion Animals)
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24 pages, 21079 KB  
Review
Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics
by Giulia Cannata, Chiara Caporilli, Federica Grassi, Serafina Perrone and Susanna Esposito
Int. J. Mol. Sci. 2021, 22(12), 6353; https://doi.org/10.3390/ijms22126353 - 14 Jun 2021
Cited by 22 | Viewed by 18157
Abstract
Congenital diaphragmatic hernia (CDH) is a relatively common major life-threatening birth defect that results in significant mortality and morbidity depending primarily on lung hypoplasia, persistent pulmonary hypertension, and cardiac dysfunction. Despite its clinical relevance, CDH multifactorial etiology is still not completely understood. We [...] Read more.
Congenital diaphragmatic hernia (CDH) is a relatively common major life-threatening birth defect that results in significant mortality and morbidity depending primarily on lung hypoplasia, persistent pulmonary hypertension, and cardiac dysfunction. Despite its clinical relevance, CDH multifactorial etiology is still not completely understood. We reviewed current knowledge on normal diaphragm development and summarized genetic mutations and related pathways as well as cellular mechanisms involved in CDH. Our literature analysis showed that the discovery of harmful de novo variants in the fetus could constitute an important tool for the medical team during pregnancy, counselling, and childbirth. A better insight into the mechanisms regulating diaphragm development and genetic causes leading to CDH appeared essential to the development of new therapeutic strategies and evidence-based genetic counselling to parents. Integrated sequencing, development, and bioinformatics strategies could direct future functional studies on CDH; could be applied to cohorts and consortia for CDH and other birth defects; and could pave the way for potential therapies by providing molecular targets for drug discovery. Full article
(This article belongs to the Special Issue Molecular Diagnosis in Congenital Fetal Anomalies)
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6 pages, 2733 KB  
Case Report
Video-Assisted Thoracic Surgery for Late Recurrence of Congenital Diaphragmatic Hernia
by Walther Brochier, Maryam Monfared Rezai and Julien Mahieu
Surgeries 2021, 2(2), 144-149; https://doi.org/10.3390/surgeries2020014 - 10 Apr 2021
Cited by 1 | Viewed by 4021
Abstract
Congenital diaphragmatic hernia (CDH) is often diagnosed and treated in the perinatal period. Recurrence is a known complication that may very rarely occur years after the operation. We report here the case of a patient who had an operation for a CDH at [...] Read more.
Congenital diaphragmatic hernia (CDH) is often diagnosed and treated in the perinatal period. Recurrence is a known complication that may very rarely occur years after the operation. We report here the case of a patient who had an operation for a CDH at birth that then recurred in adulthood. Given the risk of complications and the symptomatology of the patient, we decided to treat the patient surgically. We successfully performed a video-assisted thoracic surgery (VATS) procedure during which we reduced the hernia and closed the breach. Given the recurrent nature of the hernia, we decided to reinforce the repair with a mesh. Full article
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3 pages, 1704 KB  
Interesting Images
Diaphragmatic Hernia after Radiofrequency Ablation
by Asahiro Morishita, Joji Tani and Tsutomu Masaki
Diagnostics 2021, 11(2), 307; https://doi.org/10.3390/diagnostics11020307 - 14 Feb 2021
Cited by 2 | Viewed by 2013
Abstract
Diaphragmatic hernia (DH) is a defect, which can be congenital or can develop later in life. Moreover, chromosomal and genetic abnormalities, environmental exposures, and nutritional deficiencies may be related to the development of congenital DH. In contrast, the risk factors of acquired DH [...] Read more.
Diaphragmatic hernia (DH) is a defect, which can be congenital or can develop later in life. Moreover, chromosomal and genetic abnormalities, environmental exposures, and nutritional deficiencies may be related to the development of congenital DH. In contrast, the risk factors of acquired DH include traumas, such as blunt injuries due to traffic accidents and surgical procedures. We report the case of a 71-year-old man admitted to our gastroenterology department for the treatment of esophageal varices. Four days after the endoscopic treatment, the patient vomited severely and reported severe right upper abdominal pain. He was diagnosed with DH, and surgical fixation was performed. The diaphragmatic injury lesion was located on the estimated needle track of percutaneous radiofrequency ablation, which was performed through the thoracic diaphragm with artificial pleural effusion for hepatocellular carcinoma. Full article
(This article belongs to the Section Biomedical Optics)
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