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Frontiers in Pediatrics 2022Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by motile ciliary dysfunction and impaired ultrastructure. Despite numerous studies, the...
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by motile ciliary dysfunction and impaired ultrastructure. Despite numerous studies, the genetic basis for about 30% of PCD cases remains to be elucidated. Here, we present the identification and functional analysis of two novel mutations in the gene encoding coiled-coil domain-containing protein 40 (CCDC40), which are found in a familial case of PCD. These novel mutations, NM_017950.4: c.2236-2delA and c.2042_2046delTCACA, NP_060420.2: p.(Ile681fs), were identified by whole-exome sequencing (WES). Sanger sequencing was then performed to confirm the WES results and determine the gene sequences of the proband's parents. The c.2042_2046delTCACA mutation disrupts the reading frame of the protein and is therefore predicted to produce a non-functional protein. Using a minigene assay with the pcDNA3.1(+) plasmid, we further investigated the potential pathogenic effects of the c.2236-2delA mutation and found that this mutation leads to formation of a truncated protein splicing disruption. Thus, in summary, we identified two mutations of the gene that can be considered pathogenic compound heterozygous mutations in a case of familial PCD, thereby expanding the known mutational spectrum of the gene in this disease.
PubMed: 36245716
DOI: 10.3389/fped.2022.996332 -
Current Problems in Surgery Oct 2018
Review
Topics: Crohn Disease; Diagnosis, Differential; Digestive System Surgical Procedures; Humans; Intestinal Obstruction; Intestine, Small; Pancreas; Pancreatic Diseases; Stomach Neoplasms; Superior Mesenteric Artery Syndrome; Tissue Adhesions; Tomography, X-Ray Computed
PubMed: 30526888
DOI: 10.1067/j.cpsurg.2018.09.001 -
Radiologia Brasileira 2019
PubMed: 31435094
DOI: 10.1590/0100-3984.2017.0196 -
Radiology Case Reports Jun 2022VACTERL Syndrome affects multiple body systems and can include various anomalies of the Vertebral column, Anus and/or rectum, heart (Cardiac), Tracheo-Esophagus, kidneys...
VACTERL Syndrome affects multiple body systems and can include various anomalies of the Vertebral column, Anus and/or rectum, heart (Cardiac), Tracheo-Esophagus, kidneys (Renal), and Limbs. Patients with VACTERL syndrome are at increased risk of having a congenital duodenal obstruction that may be extrinsic in the form of an annular pancreas or intrinsic in the form of duodenal atresia, stenosis or web. Simultaneous presentation of both the annular pancreas and duodenal web is a rare clinical entity and typically presents in neonates. However, late presentation of annular pancreas combined with a duodenal web is exceedingly uncommon. We present a case of late diagnosis of annular pancreas with duodenal web resulting in an entrapped ingested foreign body.
PubMed: 35401909
DOI: 10.1016/j.radcr.2022.02.062 -
Surgical Oncology Jun 2021A fundamental aspect of oncosurgical planning in organ resections is the identification of feeder vessel details to preserve healthy organ tissue while fully resecting...
BACKGROUND
A fundamental aspect of oncosurgical planning in organ resections is the identification of feeder vessel details to preserve healthy organ tissue while fully resecting the tumors. The purpose of this study was to determine whether three-dimensional (3D) cancer case models of computed tomography (CT) images will assist resident-level trainees in making appropriate operative plans for organ resection surgery.
METHODS
This study was based on the perception of surgery residents who were presented with 5 different oncosurgical scenarios. A five-station carousel including cases of liver mass, stomach mass, annular pancreas, pelvic mass and mediastinal mass was formed for the study. The residents were required to compare their perception level of the cases with their CT images, and 3D models in terms of identifying the invasion of the mass, making differential diagnosis and preoperative planning stage.
RESULTS
All residents have given higher scores for models. 3D models provided better understanding of oncopathological anatomy and improved surgical planning. In all scenarios, 70-80% of the residents preferred the model for preoperative planning. For surgical choice, compared to the CT, the model provided a statistically significant difference in terms of visual assessment, such as tumor location, distal or proximal organotomy (p:0.009). In the evaluation of presacral mass, the perception of model was significantly better than the CT in terms of bone-foramen relationship of chondrosarcoma, its origin, geometric shape, localization, invasion, and surgical preference (p:0.004). The model statistically significantly provided help to evaluate and prepare the case together with the colleagues performing surgery (p:0.007). Commenting on the open-ended question, they stated that the tumor-vessel relationship was clearly demonstrated in the 3D model, which has been very useful.
CONCLUSIONS
With the help of 3D printing technology in this study, it is possible to implement and evaluate a well-structured real patient scenario setup in cancer surgery training. It can be used to improve the understanding of pathoanatomical changes of multidisciplinary oncologic cases. Namely, it is used in guiding the surgical strategy and determining whether patient-specific 3D models change pre-operative planning decisions made by surgeons in complex cancer mass surgical procedures.
Topics: Humans; Imaging, Three-Dimensional; Internship and Residency; Liver Neoplasms; Mediastinal Neoplasms; Models, Anatomic; Pancreas; Pancreatic Diseases; Printing, Three-Dimensional; Sacrum; Spinal Neoplasms; Stomach Neoplasms; Surgical Oncology; Tomography, X-Ray Computed
PubMed: 33711767
DOI: 10.1016/j.suronc.2021.101537 -
Translational Pediatrics Oct 2023Annular pancreas is a rare congenital disorder that requires surgical management once diagnosed. Diamond-shaped and side-to-side duodenoduodenostomy are both popular...
Diamond-shaped versus side-to-side anastomotic duodenoduodenostomy in laparoscopic management of annular pancreas in children: a single-center retrospective comparative study.
BACKGROUND
Annular pancreas is a rare congenital disorder that requires surgical management once diagnosed. Diamond-shaped and side-to-side duodenoduodenostomy are both popular worldwide nowadays in the surgical management of annular pancreas. Here we present our experience with laparoscopic management of annular pancreas in the last 5 years and compare the clinical results of the diamond-shaped versus side-to-side anastomotic techniques.
METHODS
Fifty-two patients diagnosed with annular pancreas who underwent duodenoduodenostomy at our medical center between January 2016 and April 2021 were included in the study. Forty-four patients underwent laparoscopic diamond-shaped duodenoduodenostomy (DS group) and eight underwent laparoscopic side-to-side duodenoduodenostomy (STS group). Clinical data, including surgical indices and early outcomes after surgery, with at least 19 months of follow-up, were collected and analyzed.
RESULTS
Of the 52 patients, 61.5% were prenatally diagnosed, and vomiting was the most common clinical manifestation after birth. The operative time and bleeding volume were 187.5 [interquartile range (IQR), 150-228)] min and 2 (IQR, 2-5) mL in the DS group, compared to 175 (IQR, 155-270) min and 2 (IQR, 2-4.25) mL in the STS group (P=0.89 and 0.32 respectively). The mean time from surgery to initial oral feeding and full oral feeding was 6 (IQR, 4-10) and 12 (IQR, 10-15) days in the DS group, compared to 8 (IQR, 4.75-11.25) and 14.5 (IQR, 13-16.75) days in the STS group (P=0.61 and 0.46 respectively). The mean hospital stay was 16 (IQR, 14-19) and 20 (IQR, 17.75-26) days in the DS and STS groups respectively (P=0.13). No severe complications such as anastomotic leakage, anastomotic stenosis, reoperation or unsuspected rehospitalization were noted in either group. Feeding intolerance was revealed in six cases in the DS group and two cases in the STS group, and there was no significant difference between the two groups (P=0.50).
CONCLUSIONS
Both laparoscopic diamond-shaped and side-to-side techniques showed good clinical results in treating annular pancreas. The surgical technique, trans-anastomotic tube and early feeding are not likely to increase the risk of postoperative feeding intolerance.
PubMed: 37969116
DOI: 10.21037/tp-23-156 -
Journal of Medical Imaging and... Oct 2018
Topics: Diagnosis, Differential; Humans; Pancreas; Pancreatic Diseases; Tomography, X-Ray Computed
PubMed: 30309083
DOI: 10.1111/1754-9485.17_12784 -
Case Reports in Gastroenterology 2016The patient was a 56-year-old woman who had experienced epigastralgia and dorsal pain several times over the last 20 years. She was admitted for a diagnosis of acute...
The patient was a 56-year-old woman who had experienced epigastralgia and dorsal pain several times over the last 20 years. She was admitted for a diagnosis of acute cholecystitis, and severe intra- and extrahepatic bile duct dilatation with inner air density was noted. No papilla of Vater was present in the descending duodenum, and 2 small holes were present in the pyloric ring. Bile excretion from one of the small holes was observed under forward-viewing endoscope. It was considered that the pancreatic and bile ducts separately opened into the pyloric ring. Based on these findings, malformation of the pancreaticobiliary duct was diagnosed. She did not wish treatment, but the obstruction associated with duodenal stenosis was noted after 2 years. Pancreatoduodenectomy was performed as curative treatment for duodenal stenosis and retrograde biliary infection through the bile duct opening in the pyloric ring. The ventral pancreas encompassed almost the entire circumference of the pyloric ring, suggesting a subtype of annular pancreas. Generally, lesions are present in the descending part of the duodenum in an annular pancreas, and the pancreatic and bile ducts join in the papillary region. However, in this patient, (1) the pancreas encompassed the pyloric ring, (2) the pancreatic and bile ducts opened separately, and (3) the openings of the pancreatic and bile ducts were present in the pyloric ring. The pancreas and biliary tract develop through a complex process, which may cause various types of malformation of the pancreaticobiliary system, but no similar case report was found on a literature search. This case was very rare and could not be classified in any type of congenital anomaly of the pancreas. We would classify it as a subtype of annular pancreas with separate ectopic opening of the pancreatic and bile ducts into the pyloric ring.
PubMed: 27721721
DOI: 10.1159/000447292 -
Journal of Surgical Case Reports Jul 2023The annular pancreas (AP) is an uncommon congenital anomaly, characterised by a circumferential envelope in the second portion of the duodenum. In recent years, some...
The annular pancreas (AP) is an uncommon congenital anomaly, characterised by a circumferential envelope in the second portion of the duodenum. In recent years, some genetic component has been found in the etiology. A newborn full-term male, weighing at 1910 g at birth, had a history of intrauterine growth restriction and diagnosis of tetralogy of Fallot, Down syndrome and congenital hypothyroidism. Duodenal membrane is suspected after persistent postprandial vomiting and abdominal distension; his abdomen was distended, hyperresonant and soft. The gastroduodenal series showed data compatible with a duodenal membrane so exploratory laparotomy was performed, finding the pancreas completely wrapping the second portion of the duodenum, so a diamond-shaped-duodenoduodenostomy anastomosis was performed. The AP should be considered, especially in male neonates with postprandial vomiting, abdominal distension, who show some other congenital anomaly, and in the abdominal X-ray, the sign of the double bubble is observed.
PubMed: 37489161
DOI: 10.1093/jscr/rjad407 -
Asian Journal of Surgery Jun 2019
Topics: Anatomic Variation; Female; Humans; Middle Aged; Pancreas; Pancreatic Diseases; Portal Vein; Tomography, X-Ray Computed
PubMed: 30852073
DOI: 10.1016/j.asjsur.2019.02.001