Persistent pulmonary hypertension in newborn (PPHN) is a serious and possibly fatal syndrome characterized by sustained foetal elevation of pulmonary vascular resistance at birth. PPHN may manifest secondary to other conditions as meconium aspiration syndrome, infection and congenital diaphragmatic hernia. This MiniReview provides the reader with an overview of current and future treatment options for patients with PPHN without congenital diaphragmatic hernia. The study is based on systematic searches in the databases PubMed and Cochrane Library and registered studies on Clinicaltrials.gov investigating PPHN. Inhaled nitric oxide (iNO) is well documented for treatment of PPHN, but 30% fail to respond to iNO. Other current treatment options could be sildenafil, milrinone, prostaglandin analogues and bosentan. There are several ongoing trials with sildenafil, but evidence is lacking for the other treatments and/or for the combination with iNO. Currently, there is no evidence for effect in PPHN of other treatments, for example tadalafil, macitentan, ambrisentan, riociguat and selexipag used for pulmonary arterial hypertension in adults. Experimental studies in animal models for PPHN suggest effect of a series of approaches including recombinant human superoxide dismutase, L-citrulline, Rho-kinase inhibitors and peroxisome proliferator-activated receptor-γ agonists. We conclude that iNO is the most investigated and the only approved pulmonary vasodilator for infants with PPHN. In the iNO non-responders, sildenafil currently seems to be the best alternative either alone or in combination with iNO. Systematic and larger clinical studies are required for testing the other potential treatments of PPHN.

OBJECTIVE:

To study the evidence-based therapy of inhaled nitric oxide (iNO) for hypoxic respiratory failure (HRF) in term and near-term infants by analyzing the literature systematically.

METHODS:

The literature related to the treatment of HRF with iNO was retrieved from the following: PubMed, EMBASE, OVID, Springer and Chinese Journals Full-Text Database (CNKI). The relevant literature on randomized controlled trials (RCTs) that met the criteria was statistically analyzed by the software of Review Manager 4.2, as recommended by Cochrane Collaboration.

RESULTS:

A total of 162 articles were retrieved. Fifteen met the criteria and were selected for Meta analysis (4 single center and 11 multicenter randomized trials). Meta analysis showed that 30-60 minutes iNO therapy decreased the oxygenation index (P<0.05), increased PaO2 significantly, and reduced need of extracorporeal membrane oxygenation(ECMO) (P<0.05). However, for the neonates with HRF caused by congenital diaphragmatic hernia, iNO therapy did not result in a significant reduction in the oxygenation index and death rate. There was no significant difference in the occurrence of neurodevelopmental sequelae between the iNO and control groups.

CONCLUSIONS:

The currently published evidence from RCTs supports the use of iNO in term and near-term infants with HRF but except for the HRF infants caused by diaphragmatic hernia. The effect of iNO therapy on long-term neurodevelopment needs to be further studied.

OBJECTIVE:

The objective was to improve the prenatal diagnosis of Brachmann-de Lange syndrome (BDLS) by defining the sonographic criteria.

METHODS:

Retrospective review of Fetal Medicine Unit (FMU) notes from 1998 to 2009 to identify all cases seen with a final diagnosis of BDLS. Literature review undertaken to ascertain all cases where sonographic features of BDLS had been described. Information was pooled to define the most common features.

RESULTS:

Seven cases were identified from review of FMU records. The diagnosis was suspected prenatally in four of the seven. All had asymmetrical forearm defects with oligodactyly/polydactyly, five had intrauterine growth restriction (IUGR) and five had abnormal facial features including micrognathia and/or a long overhanging philtrum. A further 28 cases were identified in the literature, but the diagnosis was only suspected prenatally in nine. Overall the most common feature was IUGR (80%); upper limb anomalies were detected in nearly half of cases. Other common features included facial anomalies (40%), diaphragmatic hernia (34%), increased nuchal translucency/fold (37%) and cardiac anomalies (14%).

CONCLUSIONS:

Identification of asymmetrical oligodactyly with or without forearm anomalies associated with microcephaly and/or IUGR or diaphragmatic hernia are findings that should arouse suspicion of BDLS, although definitive diagnosis at present would have to await delivery in the majority of cases.

OBJECTIVES:

A pericardial hernia is defined as the protrusion of abdominal viscera through the central tendon of the diaphragm into the pericardial sac. It is a rare clinical entity whose symptoms vary considerably. The objective of this study was to evaluate the clinical manifestations of and the optimal surgical treatments for pericardial hernias.

METHODS:

PubMed and the Cochrane bibliographical databases were searched (last search: 20 April 2019) for studies on pericardial diaphragmatic hernias in the adult population.

RESULTS:

Eighty studies met our inclusion criteria and reported on 85 patients (62 men and 23 women) with a mean age of 55.86 ± 15.79 years (mean ± standard deviation) presenting with a pericardial hernia at health care facilities. The leading aetiology was trauma (56.5%) followed by iatrogenic interventions (30.6%). The most common herniated organs were the transverse colon (49.4%) and the greater omentum (48.2%). Seventy-one patients (83.5%) underwent an open surgical repair, whereas 14 (16.5%) had a laparoscopic approach. Mesh or a patch was applied in 41.9% of cases. A postoperative morbidity rate of 16.9% was recorded, whereas the mortality rate reached 2.4%.

CONCLUSIONS:

Pericardial hernia is a rare disease characterized by abdominal organs herniating into the pericardium. It requires a high degree of suspicion for early diagnosis, and all medical professionals should be encouraged to report such cases to clarify the best available therapeutic approach.

Both pseudomyxoma peritonei and Morgagni hernias in adults are rare clinical conditions. A 70-year-old woman who was diagnosed with pseudomyxoma peritonei with Morgagni hernia underwent cytoreductive surgery and primary repair. Pseudomyxoma peritonei causes increased intra-abdominal pressure that may lead to acquired congenital diaphragmatic hernia when there is a local fragility in the diaphragmatic musculature. Parietal peritonectomy of the right diaphragmatic peritoneum can safely remove the hernia sac. The high rate of infections associated with cytoreductive surgery causes hesitation for concurrent mesh repair for Morgagni hernia. This is the first report of pseudomyxoma peritonei with Morgagni hernia. Cytoreductive surgery including parietal peritonectomy of the right diaphragmatic peritoneum plus primary repair of hernial defect was performed safely and successfully, which achieved positive short-term results for patients with pseudomyxoma peritonei-associated Morgagni hernia.

PURPOSE:

Bochdalek hernia is a congenital diaphragmatic hernia. The incidence in adults is estimated around 0.17%. Right-sided hernias are much more seldom than left-sided ones because of faster closure of the right pleuroperitoneal canal and the protective effect of the liver. Due to its rarity, there have been no large prospective or retrospective studies following great need for evidence-based diagnostics and treatment strategies. In this systematic review, we evaluated the current evidence of diagnostics, treatment, and follow-up of adult right-sided Bochdalek hernias.

METHODS:

According to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines a systematic literature review was conducted in PubMed and Cochrane library from 2004 to January 2021. The literature search included all studies with non-traumatic right-sided Bochdalek hernias. Literature on left- or both-sided, pregnancy-associated, pediatric, and other types of hernias were explicitly excluded. Quality assessment of the included studies was performed.

RESULTS:

Database search identified 401 records. After eligibility screening 41 studies describing 44 cases of right-sided non-traumatic Bochdalek hernias in adulthood were included for final analysis. Based upon the systematic literature review, the current diagnostic, therapeutic, and follow-up management pathway for this rare surgical emergency is presented.

CONCLUSION:

This systematic review underlined that most studies investigating management of adult non-traumatic right-sided Bochdalek hernias are of moderate to low methodological quality. Hernias tend to occur more frequently in middle-aged and older women presenting with abdominal pain and dyspnea. A rapid and accurate diagnosis following surgical repair and regular follow-up is mandatory. High-quality studies focusing on the management of this rare entity are urgently needed.

BACKGROUND:

Morgagni's hernia (MH) is defined by the protrusion of abdominal viscera through an anterior retrosternal diaphragmatic defect. The objective of this study was to systematically review current literature on MHs in adult population and assess their clinical characteristics and therapeutic approach.

METHODS:

PubMed and Cochrane bibliographical databases were searched (last search: 15th January 2021) for studies concerning MHs.

RESULTS:

Inclusion criteria were met by 189 studies that included 310 patients (61.0% females) with an age of 57.37 ± 18.41 (mean ± SD) years. Pulmonary symptoms, abdominal pain, and nausea-vomit were among the most frequent symptomatology. MHs were predominantly right-sided (84.0%), with greater omentum (74.5%) and transverse colon (65.1%) being the most commonly herniated viscera. The majority of cases underwent an open procedure, while 42.3% of patients had a minimally invasive procedure. Abdominal approach was mostly preferred, while a thoracic one was chosen at 20.6% of cases and a thoracoabdominal at 3.2%. Thirty-day postoperative complications were recorded at 29 patients and 30-day mortality was 2.3%.

CONCLUSIONS:

MH is a rare type of congenital diaphragmatic hernia which rarely manifests in adult population with atypical pulmonary and gastrointestinal symptoms. Surgery is the gold standard for their management. Open surgical approach is preferable in emergency cases, while laparoscopic surgery is favored in elective setting and is associated with shorter hospitalization. Further studies are crucial in order to elucidate etiology and optimal therapeutic approach.

Background: There is a lack of systematic review on the global prevalence of major congenital anomalies. We performed a systematic review and meta-analysis of population-based studies on global birth prevalence of eight major congenital anomalies (esophageal atresia, congenital diaphragmatic hernia, duodenal atresia, intestinal atresia, gastroschisis, omphalocele, Hirschsprung’s disease and anorectal malformation). Methods: Population-based studies reporting the birth prevalence of these anomalies were included from 1969 to 2024. Data from eligible studies were pooled in meta-analysis to get global estimates of birth prevalence and prevalence in subgroups of geographic regions, countries with varying income levels and time periods. Results: One hundred and twenty-three studies including a total of 256,507 cases of congenital anomalies and 769,455,220 births were included in this study. Overall birth prevalence of theses eight anomalies ranged from 0.86 to 3.11 cases per 10,000 births. Anorectal malformation had the highest birth prevalence among these anomalies with 3.11 cases (95% confidence intervals (CI): 2.77–3.50) per 10,000 births. Birth prevalence of congenital diaphragmatic hernia had a great decrease from 4.19 per 10,000 births in the 1960s to 1.30 per 10,000 births in the 2020s. Omphalocele had high prevalence in Africa and low-income countries. Conclusion: This systematic review summarizes birth prevalence of eight major congenital anomalies. The burdens of these anomalies had variations in the world. Information of this study could help with better understanding of epidemiology and etiology of these anomalies. © The Author(s) 2025.

PURPOSE:

The protrusion of abdominal viscera through an intercostal space under an intact diaphragm is a very rare condition. The aim of this study is to elucidate the etiology, clinical features, and therapeutic options on what several authors call "abdominal intercostal hernia" (AIH).

METHODS:

A typical case of AIH of the 9th left intercostal space in a 48-year-old man is presented. A literature search was conducted on the Medline and Scopus databases. Only acquired AIHs (AAIHs) were considered, while lung, transdiaphragmatic, and congenital intercostal hernias were excluded.

RESULTS:

Eighteen studies met selection criteria and a total of 20 patients were useful for analysis. Etiology was related mainly to traumatism (65 %) or to previous surgery (20 %). The intercostal defects were mostly located under the 9th rib without significant differences as to side. The main symptom was chest swelling (85 %), often associated with discomfort or pain (76 %). Acute complications such as incarceration and strangulation occurred in three patients. CT was the most employed diagnostic tool (80 %). Early diagnosis was made in 25 % of cases. Seventeen patients underwent hernia repair with either open (73 %) or laparoscopic approach (28 %), and various techniques with and without prosthesis were described. Recurrence occurred in 28.6 % of patients, during a mean follow-up of 8.6 months.

CONCLUSIONS:

AAIH should be always suspected when chest swelling occurs after a minor or major trauma, and CT must be promptly performed to rule out diaphragmatic or abdominal viscera injury. This condition requires surgery to prevent serious complications, the first-choice technique should be mesh tension-free repair.

Diaphragmatic hernias are the most common abnormalities of gastrointestinal system especially in elderly patients. The radiographic findings of diaphragmatic hernias on esophagram are well known, but when incidentally found in an asymptomatic patient on axial computed tomography (CT) sections, the appearance of diaphragmatic hernia may mimic many other conditions. Our purpose is to present the CT findings of sliding hernia in an incidentally found asymptomatic patient, and to differentiate it from the other abnormalities that can be located in the distal paraesophageal area with the same appearance characteristics.