BACKGROUND AND OBJECTIVE

Choledochal cysts (CC) are rare congenital, cystic dilations of the biliary tree occurring predominantly in Asian populations and in females. Patients are usually children presenting with any of the following: abdominal pain, palpable abdominal mass, and jaundice. Its congenital nature hints at a potential genetic cause. A possible causal gene is TP53, a tumor suppressor with a germline variant called rs201753350 (c.91G>A) that changed from a G allele to an A allele, decreasing the cell proliferation suppressing activity of its functional protein. Currently, there is no information on the TP53 rs201753350 germline variant available for the Filipino population. This study determined the prevalence of rs201753350 and the association between the functional G allele, the rs201753350 germline variant A allele, and the occurrence of CCs in Filipino pediatric patients in a tertiary government hospital.

Genomic DNA was extracted from blood samples of pediatric patients clinically diagnosed with CC. Controls were DNA samples collected from a previous study. The samples underwent PCR, electrophoresis, and sequencing.

A total of 109 participants (22 cases and 87 controls) were included in the study. The A allele (22.94%) occurs at a lower frequency than the G allele (77.06%) among both cases and controls. More individuals have a homozygous G/G genotype (54.13%) than a heterozygous A/G genotype (45.87%) while the homozygous A/A genotype was not observed. The estimated risk of choledochal cyst occurrence is significantly lower in individuals with the A allele (PR: 0.08, 95% CI: 0.01 – 0.55) and the A/G genotype (PR: 0.06, 95% CI: 0.01 – 0.40).

There is no significant evidence to suggest an association between the TP53 rs201753350 germline variant and the occurrence of choledochal cysts in Filipinos. It is recommended that other mutations within and beyond the TP53 gene be investigated for possible associations with choledochal cyst occurrence.

INTRODUCTION

Epidermal inclusion cysts require surgical intervention to prevent recurrence and symptoms. Elliptical excision is definitive but results in longer scar, while minimal incision techniques offer better cosmetic outcomes despite higher recurrence rates probably due to incomplete excision. To date, there are currently no local studies published.

A randomized controlled trial was conducted from October 2023 to May 2024 at a dermatology center in the Philippines. Patients were randomly assigned to minimal incision or elliptical excision techniques. Key metrics included operation time, scar length, post-operative complications, Hollander wound evaluation score (HWES), and histopathological completeness of excision.

Median operation duration was 31.86 minutes, with no significant difference between techniques (p = 0.5795). Post-operative scars were longer in the excision group (mean: 2.38 ± 0.66 cm) versus the minimal incision group (p < 0.001). Completeness of excision was higher in the excision group (83%) compared to the minimal incision group (27%) (p = 0.0123). Follow-up scar length was shorter in the minimal incision group (mean: 0.44 ± 0.21 cm) versus the excision group (mean: 2.1 ± 0.63 cm) (p < 0.001). HWES scores showed no significant difference in wound healing and aesthetic satisfaction.

Minimal incision technique results in shorter scars but lower completeness of excision compared to elliptical excision. Both techniques have similar long-term outcomes in wound healing and aesthetic satisfaction, with no recurrences or complications beyond two weeks. The choice should balance scar length and completeness of cyst removal, considering patient-specific factors.

Objective: To report a case of lingual thyroglossal duct cyst in an elderly man, excised via combined Trotter procedure and hyoid osteotomy.

Methods:
Design: Case Report
Setting: Tertiary Government Training Hospital
Participant: An elderly retired male office worker with dysphagia

Results: The cyst was completely excised via median labiomandibular glossotomy, with hyoid osteotomy providing additional exposure. Our patient was discharged in two weeks after decannulation and remains asymptomatic.

Conclusion: The Trotter procedure with hyoid osteotomy may be a viable alternative to the Sistrunk procedure for large lingual TGDCs.

Parasitic dermoid cysts may form from autoamputation of the ovarian mass secondary to torsion or rupture. It may then reimplant in surrounding structures and undergo subsequent neovascularization and further growth. The true incidence of these cases is unknown, however, a study reported a 0.04% incidence among 1,007 cases of dermoid cysts. This report describes the case of a 30-year-old multigravida who presented with an ultrasound finding of an ovarian dermoid cyst, which, upon laparoscopic surgery, turned out to be a parasitic dermoid cyst adherent to the bladder, with grossly normal bilateral ovaries. Theories on the development of parasitic dermoid cyst are also presented.
Human ; Female ; Adult: 25-44 yrs old ; dermoid cyst ; laparoscopy

Basal cell nevus syndrome is a rare autosomal dominant disorder with a prevalence of between 1in 60,000 to 1in 120,000. This disorder is associated with a panoply of phenotypic that includes developmental anomalies and tumors particularly basal cell carcinoma. The genetic abnormality in almost all known cases is a mutation in the PATCHED] gene which is essential for normal body and limb patterning.? abnormalities We report a 50-year-old Filipina who suffered from multiple recurrent pigmented papules, plagues, nodules, and tumors on the face with the first tumor appearing at age 20.
Basal Cell Nevus Syndrome

A 38-year-old female was admitted due to recurrent right upper quadrant (RUQ) abdominal pain. Three years prior to admission, the patient complained of a sudden onset of RUQ pain radiating to the right flank area. A month after the onset of pain, she consulted a physician, and she was advised to undergo endoscopy, but she did not comply. Three months after the consultation, an abdominal ultrasound was done, revealing a simple hepatic cyst. She then underwent aspiration of the cyst. However there was no resolution of the pain. A contrast-enhanced abdominal computed tomography (CT) scan revealed a recurrence of the hepatic cyst. Subsequently, she underwent laparoscopic fenestration of the cyst in liver segments VI, VII, and VIII. The biopsy results confirmed that the hepatic cyst was a hydatid cyst caused by Echinococcus granulosus. A month after the procedure, the abdominal pain recurred, and a repeat CT scan revealed another recurrence of the cyst. The patient was advised to undergo open surgery, but she did not consent. The patient denied taking anthelmintic drugs in the past. She did not experience any other symptoms—such as jaundice, nausea, vomiting, anorexia, or weight loss—along with the RUQ pain. She previously worked in Lebanon as a domestic helper for seven years and then moved to Taiwan, where she was employed for three years for the same work. She denied any direct exposure to dogs or sheep. On physical examination, she had a non-tender, firm, palpable mass in the RUQ area of the abdomen measuring 4x4 cm. The rest of the physical examination findings were unremarkable. A contrast-enhanced CT scan of the whole abdomen done two months prior to her admission showed multiple, well-defined, hypodense lesions in the right hepatic lobe. These lesions exhibited mildly enhancing walls and internal septations with rosette or honeycomb appearance. The two largest lesions seen in hepatic segments V and VII measured 8.6 x 6.1 x 5.2 cm and 9.5 x 8.5 x 7.4 cm, respectively (Figure 1). Similar hypodense lesions were seen in the right retroperitoneal space. At least two lesions were visible in the right perirenal space, measuring 8.8 x 6.1 x 6.5 cm and 6.1 x 5.9 x 3.8 cm, and at least two other lesions were visible in the right anterior pararenal space, within the region of the distal ascending colon, measuring 6.0 x 5.5 x 5.4 cm and 7.9 x 6.4 x 5.1 cm (Figure 2). At this point, we diagnosed the patient as having a recurrent hydatid cyst in the right hepatic lobe, with intraperitoneal extension in the right perirenal space and right anterior pararenal space, based on the CT scan findings. After securing medical clearance and administering mebendazole prophylactically at a dosage of 40 mg/kg/day, taken 3 times a day for 7 days prior to surgery, we aimed to sterilize the hydatid cysts and prevent surgical contamination.1 We did an exploratory laparotomy through a reverse L (Makuuchi) skin incision on the right upper abdominal quadrant (Figure 3). We subsequently performed a layered dissection down to the peritoneum. Intraoperatively, we noted adhesions at the posterior segments of the liver, right diaphragm and mid transverse colon. We then meticulously performed adhesiolysis. With extreme caution, we ensured to prevent any spillage of the cystic contents into adjacent structures and the abdominal cavity. Then, we covered the abdomen with abdominal packs soaked in 95% ethanol. Intraoperative liver ultrasonography revealed only one cystic lesion involving hepatic segments V, VI, and VII. The cyst was adherent to the right subdiaphragmatic area. We also noted multiple intraperitoneal cysts: one adherent to the right perirenal area measuring 8 x 6 cm, another adherent to the distal ascending colon and the mid transverse colon measuring 7 x 6 cm, and a third one non-adherent and floating in the anterior pararenal area measuring 4 x 4 cm. Before excising the intrahepatic mother cyst, we aspirated approximately 30-40 ml of cyst fluid and infused the cyst with an equivalent amount of 95% ethanol. After 15 minutes, we reaspirated the infused ethanol. We first carefully excised the intraperitoneal extensions of the cyst, (Figure 4) starting with the cyst in the distal ascending colon, then the cyst in the anterior pararenal area, and finally the right perirenal cyst, taking extreme caution to avoid rupturing the cyst. We then proceeded with the dissection of the hepatoduodenal ligament, where the portal triad is located, to provide access for our Pringle Maneuver. This step was followed by adhesiolysis at the right subdiaphragmatic area. Because of dense adhesions, there was a diaphragmatic injury, for which we performed phrenicorrhaphy. We then mobilized the right hepatic lobe through careful dissection of the triangular and coronary ligaments. The margins were marked under ultrasound guidance and the Pringle Maneuver was applied intermittently. We then carried out a parenchymal-sparing resection of segments V, VI, and VII. After securing hemostasis, we placed a Jackson Pratt drain in the subhepatic area. At the end of the surgery, we successfully resected hepatic segments V, VI, and VII, which contained an intrahepatic mother cyst with multiple spherical daughter cysts. Additionally, we excised three secondary cysts from the intraperitoneal area. Grossly, the excised specimen showed the right posterior segment of the liver with a surgically resected yellowish multiseptated cyst attached to it. This cyst has a fibrous rim and it contains several variable-sized daughter cysts (Figure 5). The excised intraperitoneal cyst from the distal ascending colon to mid transverse colon area (Figure 6), has a thick wall with a laminated external layer (Figure 7). The histopathological examination of the hydatid cyst showed E. granulosus protoscolices containing four acetabula and an armed rostellum with 30 to 36 hooks (Figure 8) . Sections of the liver showed liver parenchyma that was infiltrated by mononuclear cells. Adjacent to the liver parenchyma, the hydatid cyst wall contains an outer acellular laminated membrane, a germinal membrane, and remnants of the E. granulosus protoscolices, which resembled grains of sand (Figure 9 and 10). Postoperatively, the patient complained of dyspnea and tachypnea. On chest physical examination, we noted decreased breath sounds on the right. A chest x-ray done revealed a right-sided pneumothorax. Pneumothorax can occur during hepatectomy due to the escape of intraperitoneal carbon dioxide gas into the pleural cavity.2 We performed a chest tube thoracostomy insertion, and removed the tube after 5 days, once we observed full expansion of the patient’s right lung. We discharged the patient on the 9th postoperative day and prescribed oral antibiotics and pain relievers as home medications. Cystic echinococcosis (CE) or hydatid disease is a zoonotic parasitic disease caused by infection with the larval stage of the tapeworm E. granulosus. Dogs and other carnivores are definitive hosts, while sheep, cattle, and goats are intermediate hosts. Humans are accidental, intermediate hosts and become secondarily infected by ingesting food or water contaminated with eggs or gravid proglottids that are excreted in the definitive host’s feces. CE is endemic in North and East Africa, South America, China and Central Asia, and the Mediterranean countries.3 4 5 6 This disease has a low prevalence in Southeast Asia, particularly the Philippines.7 In our case, the patient probably acquired the infection when she worked in Lebanon, where echinococcosis is endemic. The liver and the lungs are the most common sites of the disease in humans. The concomitant occurrence of the cyst in the retroperitoneum or other intra-abdominal spaces is extremely rare,8 9 and it is associated with a high mortality and disability rate.10 Abdominal CT scan is a good imaging technique for visualizing wall calcifications in CE,11 and in our patient, enhancing walls and internal septations, which represent the walls of daughter cysts, were seen. Peritoneal seeding or cyst dissemination can occur due to a previous hepatic hydatid cyst surgery or after a spontaneous or traumatic rupture.12 These secondary cysts are formed from the liberated protoscolices caused by rupture of the daughter cysts.13 Although rare, when a cyst ruptures into the peritoneal cavity, it can lead to reactions ranging from mild hypersensitivity reaction to potentially fatal anaphylactic shock.14 A preoperative course of oral albendazole or mebendazole, as in the case of our patient’s medication, sterilizes the cysts and reduces their tension, thereby facilitating the surgery.15 16 It also kills most of the protoscolices within the hepatic hydatid cyst.17 Postoperatively, these drugs significantly reduce the risk of cyst recurrence.16 The prognosis of CE is generally good, and a complete cure is possible with total surgical excision without spillage.18 For hepatic echinococcosis, it is crucial to prioritize radical surgical resection in the initial surgery and preoperative anthelmintic therapy to minimize morbidity and recurrence often linked with conservative surgery.16 19
Cysts ; Echinococcus granulosus

Objective To evaluate the accuracy of different convolutional neural networks (CNN),representative deep learning models,in the differential diagnosis of ameloblastoma and odontogenic keratocyst,and subsequently compare the diagnosis results between models and oral radiologists. Methods A total of 1000 digital panoramic radiographs were retrospectively collected from the patients with ameloblastoma (500 radiographs) or odontogenic keratocyst (500 radiographs) in the Department of Oral and Maxillofacial Radiology,Peking University School of Stomatology.Eight CNN including ResNet (18,50,101),VGG (16,19),and EfficientNet (b1,b3,b5) were selected to distinguish ameloblastoma from odontogenic keratocyst.Transfer learning was employed to train 800 panoramic radiographs in the training set through 5-fold cross validation,and 200 panoramic radiographs in the test set were used for differential diagnosis.Chi square test was performed for comparing the performance among different CNN.Furthermore,7 oral radiologists (including 2 seniors and 5 juniors) made a diagnosis on the 200 panoramic radiographs in the test set,and the diagnosis results were compared between CNN and oral radiologists. Results The eight neural network models showed the diagnostic accuracy ranging from 82.50% to 87.50%,of which EfficientNet b1 had the highest accuracy of 87.50%.There was no significant difference in the diagnostic accuracy among the CNN models (P=0.998,P=0.905).The average diagnostic accuracy of oral radiologists was (70.30±5.48)%,and there was no statistical difference in the accuracy between senior and junior oral radiologists (P=0.883).The diagnostic accuracy of CNN models was higher than that of oral radiologists (P<0.001). Conclusion Deep learning CNN can realize accurate differential diagnosis between ameloblastoma and odontogenic keratocyst with panoramic radiographs,with higher diagnostic accuracy than oral radiologists.
Humans ; Ameloblastoma/diagnostic imaging* ; Deep Learning ; Diagnosis, Differential ; Radiography, Panoramic ; Retrospective Studies ; Odontogenic Cysts/diagnostic imaging* ; Odontogenic Tumors

Humans ; Infant ; Biliary Atresia/diagnosis* ; Choledochal Cyst/diagnosis* ; RNA, Circular ; Diagnosis, Differential

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up. METHODS: A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis. RESULTS: In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001). CONCLUSION Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.
Female ; Pregnancy ; Humans ; Holoprosencephaly ; Prenatal Diagnosis/methods* ; Central Nervous System ; Fetus/abnormalities* ; Nervous System Malformations/genetics* ; Microarray Analysis ; Central Nervous System Diseases ; Cysts ; Chromosome Aberrations ; Ultrasonography, Prenatal/methods*

OBJECTIVE: To investigate the safety and efficacy of reinforced radiculoplasty in the treatment of symptomatic sacral Tarlov cysts (TCs). METHODS: A retrospective analysis was performed on the clinical data and follow-up data of 71 patients with symptomatic sacral TCs who underwent reinforced radiculoplasty in the Neurosurgery Department of Peking University Third Hospital from June 2018 to March 2021. All the operations were performed under neuroelectrophysiological monitoring. Intraoperative cyst exploration, partial resection of the cyst wall, narrowing of the leak, nerve root sleeve radiculoplasty and artificial dural reinforcement were performed. The incidence of postoperative complications and new neurological dysfunction was analyzed. Visual analogue scale (VAS) was used to assess the changes of pain before and after surgery. The Japanese Orthopedics Association (JOA) low back pain score was used to evaluate the changes in nerve function before and after surgery. RESULTS: In the study, 71 patients had 101 TCs, 19 (18.8%) TCs originated from the left S1 nerve, 26 (25.7%) originated from the left S2 nerve, 3 (3.0%) originated from the left S3 nerve, 14 (13.9%) originated from the right S1 nerve, 33 (32.7%) originated from the right S2 nerve, 6 (5.9%) originated from the right S3 nerve, all the TCs underwent reinforced radiculoplasty. Deep infection (1 case), subcutaneous effusion (1 case), fat li-quefaction (1 case) and urinary tract infection (4 cases) were recorded postoperatively. The patients were followed up for 12-43 months (median, 26 months). Two cases had new urinary retention after operation, and the catheter was removed at the end of the first and second months respectively. One case had new fecal weakness, which improved after 3 months. Compared with preoperation, VAS decreased significantly at the last follow-up [median, 6 (4-9) vs. 1 (0-5), Z=-7.272, P < 0.001], JOA score increased significantly [median, 20 (16-25) vs. 27 (18-29), Z=-7.265, P < 0.001]. There were 18 cured cases (25.4%), 41 excellent cases (57.7%), 8 effective cases (11.3%), and 4 invalid cases (5.6%). The total efficiency was 94.4% (67/71). Two (1.98%) cysts recurred. CONCLUSION For patients with symptomatic sacral TCs, reinforced radiculoplasty can significantly improve the pain and nerve function, which is safe and reliable.
Humans ; Tarlov Cysts/epidemiology* ; Retrospective Studies ; Neoplasm Recurrence, Local/complications* ; Cysts/surgery* ; Pain