A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

Skeletal ciliopathies constitute a subgroup of ciliopathies characterized by various skeletal anomalies arising from mutations in genes impacting cilia, ciliogenesis, intraflagellar transport process, or various signaling pathways. Short-rib thoracic dysplasias, previously known as Jeune asphyxiating thoracic dysplasia (ATD), stand out as the most prevalent and prototypical form of skeletal ciliopathies, often associated with semilethality. Recently, pathogenic variants in GRK2, a subfamily of mammalian G protein-coupled receptor kinases, have been identified as one of the underlying causes of Jeune ATD. In this study, we report a new patient with Jeune ATD, in whom exome sequencing revealed a novel homozygous GRK2 variant, and we review the clinical features and radiographic findings. In addition, our findings introduce Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and midgut malrotation for the first time in the context of this recently characterized GRK2-related skeletal ciliopathy.

Recurrence of anterior congenital diaphragmatic hernia after laparoscopic repair in children.

PURPOSE: To report our experience with laparoscopic repair of anterior congenital diaphragmatic hernia (CDH) using extracorporeal subcutaneous knot tying and to define recurrence risk factors. METHODS: This retrospective unicentric study included children who underwent laparoscopic repair of anterior CDH without patch, using extracorporeal knot tying of sutures passed through the full thickness of the abdominal wall (2013-2020). A systematic review of the literature with meta-analysis was performed using the MEDLINE database since 2000. RESULTS: Eight children were included (12 months [1-183]; 10.6 kg [3.6-65]). Among the two patients with Down syndrome, one with previous cardiac surgery had a recurrence at 17 months postoperatively. In our systematic review (26 articles), among the 156 patients included, 10 had a recurrence (none with patch). Recurrence was statistically more frequent in patients with Down syndrome (19.4%) than without (2.5%) (p < 0.0001), and when absorbable sutures were used (50%) instead of non-absorbable sutures (5.3%) (p < 0.0001). CONCLUSION: Laparoscopic repair of anterior CDH without patch was a safe and efficient surgical approach in our patients. The use of a non-absorbable prosthetic patch should be specifically discussed in anterior CDH associated with Down syndrome and/or in case of previous cardiac surgery to perform a diaphragmatic tension-free closure.

Post-operative anterior diaphragmatic hernias in children with Trisomy 21 after cardiac surgery.

Morgagni hernias account for less than 5% of congenital diaphragmatic hernias. They are characteristically retrosternal and bilateral, with right-sided predominance. An association between Trisomy 21 and diaphragmatic hernias resembling Morgagni hernia has been reported, but the effect of cardiac surgery on its formation has not been investigated. The purpose of this study was to determine whether there is a higher incidence of anterior diaphragmatic hernias in children with Trisomy 21 after cardiac surgery. We compared the prevalence of anterior diaphragmatic hernias in 92 patients with Trisomy 21 who underwent cardiac surgery with its prevalence in 100 children without Trisomy 21 who underwent cardiac surgery. All available CXRs of all children underwent revision for the presence of an anterior diaphragmatic hernia by a pediatric radiologist. Within the study group, four cases of an anterior diaphragmatic hernia were detected, all upon presentation to the emergency room due to breathing difficulties. No cases of an anterior diaphragmatic hernia were found in the control group (P = 0.0094). CONCLUSIONS: A high index of suspicion for an anterior diaphragmatic hernia should be maintained in children with Trisomy 21 who have undergone cardiac surgery and present with breathing difficulty. If CXR findings are uncertain, UGI series and\or CT should be performed. In light of our findings, the surgical technique has been modified in patients with DS in our medical center. WHAT IS KNOWN: • Several studies reported an association between Trisomy 21 and diaphragmatic hernia resembling Morgagni hernia, but the effect of cardiac surgery on its formation has not been investigated. WHAT IS NEW: • There is a higher incidence of anterior diaphragmatic hernia resembling a Morgagni hernia in children with Trisomy 21 after cardiac surgery. • A high index of suspicion for an anterior diaphragmatic hernia should be maintained in children with Trisomy 21 who have undergone cardiac surgery and present with breathing difficulty. If CXR findings are uncertain, UGI series and\or CT should be performed.

Congenital diaphragmatic hernia in adults: a decade of experience from a single tertiary center.

INTRODUCTION: Congenital diaphragmatic hernias (CDHs) in adults remain rare, with limited data on them available. However, CDHs can cause respiratory and gastrointestinal symptoms in adults, even resulting in the strangulation of the bowel when incarcerated. Here, we aimed to analyze surgical outcomes among adult patients. The primary outcome of interest was the complication rate, reoperations and 90-day mortality after laparoscopic and open hernia repair. METHODS: We identified all adult patients diagnosed with a Morgagni or Bochdalek hernia treated operatively between 2010 and 2019 in a single tertiary care hospital. Data on patient demographics, surgical characteristics, mortality and morbidity were collected. RESULTS: In total, we identified 37 patients (67.6% female; average age, 57 years). Overall, 78.4% patients underwent minimally invasive operations, while 35.1% underwent emergency operations. A Clavien-Dindo grade II-V complication was experienced by 18.9% of patients. No deaths occurred within 90 days of surgery, and we detected no recurrences in short-term or long-term follow-up. A minimally invasive technique correlated with a shorter hospital stay of 3.6 days versus 6.8 days in the open surgery group (p = .007, t = 3.3, 95% confidence interval = 1.04-5.21). CONCLUSION: Our findings indicate that the laparoscopic repair of a congenital diaphragmatic hernia is safe and effective, offering short hospital stay and a low amount of complications.

Laparoscopic management of symptomatic congenital diaphragmatic hernia of Morgagni in the adult.

BACKGROUND: Currently, there is a relative paucity of literature regarding the management of symptomatic congenital diaphragmatic hernia of the foramen of Morgagni in the adult. This study aims to describe our unique surgical technique and outcomes in adult patients undergoing laparoscopic repair of symptomatic Morgagni hernia. METHODS: This is a retrospective review of adult patients from 2003 to 2020 who underwent a laparoscopic Morgagni hernia repair at our institution. All patients underwent a similar laparoscopic approach, utilizing the surgical principles of reduction of intra-abdominal contents, complete resection of the hernia sac, followed by primary repair of the hernia defect and mesh reinforcement with permanent mesh if the primary repair was subjectively under tension. RESULTS: The study population consisted of 12 consecutive patients with a Morgagni hernia. Patients presented with a variety of symptoms attributed to the hernia, including pain 83% (n = 10), respiratory symptoms and shortness of breath 58% (7), and gastrointestinal obstruction 25% (3). Other complaints included: nausea 33% (4), reflux 50% (6), early satiety 8% (1), palpitations 16% (2), a gurgling sensation in the chest 8% (1), and weight loss 8% (1). Primary repair was possible in all patients following complete reduction of hernia contents including the hernia sac. Mesh reinforcement was used in 5 of 12 patients. Average surgical operative time was 93 (± 37) min. Median length of stay was 1.3 days (range 0.5-5.5 days). At a median follow-up of 10.9 months (IQR 8.0-41.5 months), all symptoms attributed to the hernia had resolved. No recurrences were identified. CONCLUSIONS: Adults with symptomatic Morgagni hernia should undergo surgical repair. A laparoscopic approach utilizing the surgical principles of reduction of intra-abdominal contents, complete resection of the hernia sac, followed by primary repair of the hernia defect (when possible), with or without mesh reinforcement can be performed safely and effectively.

Acute Respiratory Failure, Ischemic Modifications on Electrocardiogram: Alternative Etiology-A Case of Morgagni Hernia.

We discovered a rare pathology described in adulthood, followed by the development of a long asymptomatic evolution, which underlined the importance of multidisciplinary collaboration. We present the case of a 62-year-old female smoker patient, with a known previous medical history of chronic ischemic heart disease, hypertension, chronic obstructive pulmonary disease (COPD), gastric ulcer and gastritis. The patient was rushed to the emergency room (ER) with acute respiratory failure, chest discomfort, ankle and facial edema and a chest X-ray showing a right lower pulmonary lobe consolidation, with an alarming ischemic electrocardiogram (ECG) modification without increasing myocardial cytolysis indicators. This led our medical team to investigate a possible cardiovascular event that might have been in development. After immediate admission, thoracic computer tomography (CT) imaging was carried out, which found a Morgagni diaphragmatic hernia, containing adipose tissue and the hepatic flexure of the colon with approximate dimensions of 50/100 mm. We faced differential diagnostic problems. We knew the subject's existing cardiac and chronic respiratory tract pathologies from their previous medical history; therefore, multiple investigations and check-ups were carried out. A chest CT and surgery intervention were needed to resolve this case. Subsequently, the acute respiratory failure and alarming ischemic ECG modification disappeared.

[Hyperostosis frontalis interna : etiology and differential diagnosis]. / Hyperostose frontale interne : étiologie et diagnostic différentiel.

Hyperostosis frontalis interna was first described in 1719 in association with obesity and hirsutism, forming Morgagni's syndrome. A high prevalence and a lack of studies demonstrating a strong correlation between these different signs currently question the existence of such a syndrome. Hyperostosis frontalis interna predominates in women. The anomaly exclusively involves the inner table and constantly spares the diploe and the external table. The main differential diagnosis of cranial hyperostosis is made between meningioma, osteoma, Paget's disease and fibrous dysplasia. The clinical implication of hyperostosis as well as its etiology are also debated.

L'hyperostose frontale interne a initialement été décrite en 1719, en association avec une obésité et de l'hirsutisme, formant ainsi le syndrome de Morgagni. Une prévalence élevée et un manque d'études confirmant une corrélation entre ces différents signes remettent actuellement en doute l'existence de ce syndrome. L'hyperostose frontale interne prédomine largement chez la femme. L'affection concerne exclusivement la table interne et épargne constamment le diploé et la table externe. Le diagnostic différentiel principal des hyperostoses crâniennes s'établit entre le méningiome, l'ostéome, la maladie de Paget et la dysplasie fibreuse. L'implication clinique de l'hyperostose ainsi que son étiologie sont également débattues.

A novel scarless laparoscopic method for morgagni hernia repair.

Background: Morgagni hernia (MH) is a rare congenital defect of the diaphragm. Although the various surgical method has been proposed, there is no surgical consensus. Aim: In this study, we aimed to report the outcome of the patients that underwent surgery which is completed using a single port laparoscopic-assisted transabdominal closure of MH. Patients and Methods: This is a retrospective analysis of 18 pediatric patients who underwent novel laparoscopic MH repair at a single tertiary pediatric hospital between March 2018 and December 2020. Results: Of the 18 patients, 72% (n = 13) were male and 28% (n = 5) were female. The symptoms at admission included repeated chest infection (39%), dyspnea (33%), vomiting (17%), and abdominal pain (22%). The colon (78%) was the most frequently herniated organ. Hernias were bilateral, on the left, and on the right in seven, four, and seven cases, respectively. All surgical interventions were completed within 25-50 min. All patients started enteral feeding within 24 hours. All patients were discharged within 1-3 days without any complications. The mean follow-up period was 27 months. Conclusions: In conclusion, our method is characterized by a shorter operation time, early return to feeding, early discharge, excellent cosmetic results, low cost, and low recurrence rate. Further prospective trials are needed to compare our novel scarless technique to other methods.

Our surgical experience in traumatic and congenital diaphragmatic hernia: Single-center study.

Background and Aim: Diaphragmatic hernias can develop congenitally or secondary to trauma. Congenital diaphragmatic hernias occur with Bochdalek hernia and Morgagni hernia (MH). In this study, we aimed to present laparoscopic and open surgical treatment for traumatic and congenital diaphragmatic hernias, and complications and length of hospital stay in the light of the literature. Patients and Methods: Twenty-two patients who were diagnosed with diaphragmatic hernia between January 2013 and January 2020 in our clinic were examined retrospectively in terms of demographic features, clinical and radiological findings, and length of hospital stay. Results: The complaints of the patients diagnosed with diaphragmatic hernia were often abdominal pain, shortness of breath, early satiety, nausea, vomiting, and abdominal distention. The mean age of the patients was 54 (19-88) years. Sixteen patients were females and six were males. Two patients were operated due to stab injury, six patients were operated due to ileus, and the remaining fourteen patients were operated due to congenital diaphragmatic hernia. Eight patients were operated under emergency conditions. The remaining patients were operated under elective conditions. The average hospital stay was 6(3-15) days. The length of hospital stay of those who underwent laparoscopic surgery was 4 (3-5) days. No patient had an exitus. All patients were discharged with healing. This rare pathology should be remembered especially in patients presenting with acute abdominal complaints accompanied by respiratory complaints. Conclusion: We think that cases with MH detected incidentally should be operated laparoscopically before becoming complicated.

[Diagnostics and treatment of morgagni-larrey hernia]. / Diagnostika i lechenie gryzh Morgan'i­Larreya.

OBJECTIVE: To analyze the peculiarities of diagnosis, surgical treatment and laparoscopic suturing of Morgagni-Larrey hernia. MATERIAL AND METHODS: Morgagni-Larrey hernias were diagnosed in 20 out of 78 patients (26%) with diaphragmatic hernias. Mean age was 56 years. Nineteen patients had right-sided hernia, 1 patient - left-sided hernia. Abdominal approach was used in all cases. RESULTS: In 50% of patients, hernias were asymptomatic and found during X-ray examination. Symptoms were shortness of breath (4), cough (3), chest pain (1), epigastric pain (6), stool and gas retention (3), vomiting (1), belching (1). Hernia sac included omentum in all patients, transverse colon in 9 cases and small bowel in 1 patient. CT data completely coincided with intraoperative findings. Intraoperative dimension of hernia was 7.4±1.7 cm. Hernia sac was excised in all cases. Median laparotomy was performed in 10 patients, transrectal incision - in 3 cases. Laparoscopic suturing of hernia orifice with imposing 3-5 extracorporeal transfascial-muscular U-shaped polypropylene sutures was performed in 7 cases. We passed the thread through abdominal wall (two skin incisions up to 2 cm) and diaphragm using a straight needle for suturing the wound from the port EndoClose. Ligatures were tied in subcutaneous fatty tissue. No postoperative complications and recurrent hernias were observed. CONCLUSION: Morgagni-Larrey hernias occur in adults aged over 50 years as a rule. These hernias are usually right-sided, asymptomatic in 50% of cases and detected during routine X-ray examination. Laparoscopic suturing of hernia orifice using extracorporeal transfascial-muscular sutures with fixation of ligatures in subcutaneous tissue ensures adequate closure of defect.

Recurrent convulsive syncope misdiagnosed as seizures due to a diaphragmatic hernia.

Differential diagnosis of seizures and convulsive syncope may be challenging in clinical practice. Furthermore, a misleading diagnosis of epilepsy may be detrimental for the patient as it often implies an over-prescription and an over-use of antiepileptic drugs which can cause adverse reactions. Moreover, a wrong diagnosis also causes distress to the patient with the risk of performing plenty of investigations without any benefits on the symptoms. In this case, we present a 57-year-old patient suffering from recurrent convulsive syncope over the last 7 years for which he underwent several cardiological and neurological tests and took plenty of antiepileptic drugs without any benefits on his convulsive episodes with loss of consciousness. During hospitalization, a chest X-ray was performed revealing an unknown diaphragmatic hernia with eventration of the transverse colon in the right hemitorax and mild cardiac compression. The patient underwent laparotomic surgery and diaphragmatic reconstruction with complete recovery. After 6-month follow-up, the patient no longer had episodes of convulsive syncope.

Intrathoracic migration of ventriculo-peritoneal shunt via Morgagni hernia.

We present the case of a 5-month-old patient presenting with pleural migration of ventriculo-peritoneal shunt catheter who returned 2 months later with respiratory distress. Ultimately, the diagnosis of a Morgagni hernia was made. This diagnosis, though rare, should be entertained in certain clinical settings.

Perforated Appendicitis and Bowel Incarceration within Morgagni Hernia: A Case Report.

Morgagni hernia (MH) is a result of abdominal organ protrusion through the congenital defect in the anterior retrosternal aspect of the diaphragm. The colon and omentum are the most commonly involved organs, followed by the small intestine, stomach and liver. Symptoms of MH may be absent, although the majority of patients will experience mild dyspnea or abdominal discomfort. We present a case of MH complicated with intrathoracic acute perforated appendicitis and intestinal obstruction.

An 18th century description of endometriosis : The autopsy of the Countess von Reitzenstein.

Descriptions of endometriosis in 18th century monographs and manuscripts are rare and the recorded macroscopic features of endometriosis seldom support this attribution to the described cases. Recently, we became aware of an anonymous German autopsy report from the 18th century. After transcription, the manuscript was assessed by pathologists with historical expertise. This revealed that the patient died because of a malignant tumor, most probably of a gynecological origin. Furthermore, the described ovarian pathologic findings strongly support the diagnosis endometriotic ovarian cyst. Like Giovanni Battista Morgagni (1668-1772) in his landmark publication De Sedibus et Causis Morborum per Anatomen Indagatis (1761), the author correlated the pathological findings at autopsy with the symptoms of the patient. The identity of the patient could, with high probability, be established as being the Countess of Reitzenstein, the wife of a Prussian general major in the army of Friedrich the Great: Karl Erdmann von Reitzenstein (1722-1789).

Morgagni and Boerhaave in 1719 : The European academic network in the 18th century demonstrated by a letter from Giovanni Battista Morgagni.

The European academic network in 18th century Europe and the interaction between two eminent 18th century scientists is illustrated by a recently recovered letter from 25.IX.1719 by Giovanni Battista Morgagni (1682-1771). It appears from this letter that Morgagni was interested in the latest edition of Boerhaave's Institutiones Medicae exactly in the same year that Boerhaave tried in vain to persuade him to transfer from the University of Padua to the University of Leiden.

Morgagni hernia - case reports.

Morgagni hernia is a rare form of diaphragmatic hernia. It is a congenital defect of the diaphragm, often asymptomatic in adulthood and thus usually found only incidentally. Its treatment is predominantly surgical. This article presents three case reports of patients operated in our department.

Usefulness of Ultrasound in Evaluating the Diaphragm in Neonates and Infants With Congenital Diaphragmatic Hernias.

This report describes the evaluations of 2 patients with congenital diaphragmatic hernias using ultrasound (US). Identifying the size of the diaphragmatic defect is important when determining the type of surgical repair required. In case 1, the US evaluation of a Bochdalek hernia showed the rim of the anterolateral diaphragm; therefore, thoracoscopic primary repair was performed. In case 2, (Morgagni-Larrey hernia), US revealed the left side of a retrosternal diaphragmatic hernia sac; therefore, thoracoscopic repair from the left thorax was performed. Ultrasound was useful for detecting the location and defect size of the diaphragmatic hernia and determining optimal surgical management.

Gastric volvulus through Morgagni hernia and intestinal diverticulosis in an adult patient: a case report.

BACKGROUND: Morgagni's hernia (MH) is a rare type of congenital diaphragmatic hernia with limited available literature. Late presentations are infrequent and the ones complicated due to gastric volvulus are even rarer. Another uncommon association of MH is with small bowel diverticulosis. We herein discussed a case of gastric volvulus as the content of MH, and small bowel diverticulosis present in a patient concomitantly. CASE PRESENTATION: A 30 year old woman, who presented with a one year history of epigastric burning and indigestion, occasionally associated with pain and vomiting. On clinical examination, no clue to the diagnosis could be ascertained. Her chest and abdominal x-ray indicated an abnormal air-fluid level at right hemithorax, which prompted a Computed Tomography (CT) scan, showing organo-axial gastric volvulus. MH with gastric volvulus was observed during laparotomy and trans-thoracic reduction of the contents was performed, along with repair of the defect. Multiple intestinal diverticuli were also found and the largest diverticulum was excised. CONCLUSIONS: Gastric volvulus through MH is a rare but potentially life-threatening condition. Non-specific symptoms like epigastric pain and vomiting can delay the diagnosis and management, however, advanced imaging techniques like CT scan can speed up this process. After the diagnosis is made, surgical repair should be attempted regardless of symptoms.

Pathfinders in oncology from the end of the Middle Ages to the beginning of the 19th century.

During the 3 centuries reviewed herein, all that was known regarding cancer was limited to Italy, France, Germany, and England. Practically nothing was written about cancer in the rest of the known world, including the newly discovered geographic areas in the Americas, Africa, and Australia. The 7 pioneer physicians considered in this review lived through some of the most turbulent geopolitical, social, and religious upheavals that Europe had experienced during the Renaissance. Despite their diverse social, political, and religious backgrounds and disparate personalities, they were united in their commitment to the advancement of medicine and oncology and to spreading knowledge through printed texts. Collectively, they established the groundwork for modern anatomy, physiology, chemistry, pathology, surgical oncology, and chemotherapy. It perhaps is noteworthy that 5 of the 7 physicians who contributed the most to the advancement of surgery and surgical oncology served in various wars as army surgeons. Considering everything together, the refusal of physicians of this epoch to use the microscope is a historical enigma. Cancer 2017;123:1888-1897. © 2017 American Cancer Society.

Technical standardization of laparoscopic repair of Morgagni diaphragmatic hernia in children: results of a multicentric survey on 43 patients.

BACKGROUND: This study aimed to standardize the surgical correction technique of congenital Morgagni diaphragmatic hernia (CMDH), analyzing the results of an international multicentric survey. METHODS: The medical records of 43 patients (29 boys, 14 girls) who underwent laparoscopic repair of CMDH in 8 pediatric surgery units in a 5-year period were retrospectively reviewed. Their average age was 3.3 years. Ten patients (23.2%) presented associated malformations: 9 Down syndrome (20.9%) and 1 palate cleft (2.3%). Thirty-five patients (81.4%) were asymptomatic, whereas 8 patients (18.6%) presented symptoms such as respiratory distress, cough or abdominal pain. As for preoperative work-up, all patients received a chest X-ray (100%), 15/43 (34.8%) a CT scan, 8/43 (18.6%) a barium enema and 4/43 (9.3%) a US. RESULTS: No conversion to open surgery was reported. Average operative time was 61.2 min (range 45-110 min). In 38/43 (88.3%) patients, a trans-parietal stitch was positioned in order to reduce the tension during the repair. In 14/43 cases (32.5%), the sac was resected; in only 1/43 case (2.3%) a dual mesh of goretex was adopted to reinforce the closure. Average hospital stay was 2.8 days. The average follow-up was 4.2 years, and it consisted in annual clinical controls and chest X-ray. We recorded 2 complications (4.6%): one small pleural opening that required no drain and one recurrence (2.3%), re-operated in laparoscopy, with no further recurrence. CONCLUSIONS: To the best of our knowledge, this is the largest series published in the literature on this topic. Laparoscopic CMDH repair is well standardized: The full-thickness anterior abdominal wall repair using non-resorbable suture with interrupted stitches is the technique of choice. Postoperative outcome was excellent. Recurrence rate was very low, about 2% in our series. We believe that children with CMDH should be always treated in laparoscopy following the technical details reported in this paper.