Targeted gene sequencing and bioinformatics analysis of patients with gallbladder neuroendocrine carcinoma:A case report

BACKGROUND Gallbladder neuroendocrine carcinoma(NEC)represents a subtype of gallbladder malignancies characterized by a low incidence,aggressive nature,and poor prognosis.Despite its clinical severity,the genetic alterations,mechanisms,and signaling pathways underlying gallbladder NEC remain unclear.CASE SUMMARY This case study presents a rare instance of primary gallbladder NEC in a 73-year-old female patient,who underwent a radical cholecystectomy with hepatic hilar lymphadenectomy and resection of liver segments IV-B and V.Targeted gene sequencing and bioinformatics analysis tools,including STRING,GeneMANIA,Metascape,TRRUST,Sangerbox,cBioPortal and GSCA,were used to analyze the biological functions and features of mutated genes in gallbladder NEC.Twelve mutations(APC,ARID2,IFNA6,KEAP1,RB1,SMAD4,TP53,BTK,GATA1,GNAS,and PRDM3)were identified,and the tumor mutation burden was determined to be 9.52 muts/Mb via targeted gene sequencing.A protein-protein interaction network showed significant interactions among the twelve mutated genes.Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses were used to assess mutation functions and pathways.The results revealed 40 tumor-related pathways.A key regulatory factor for gallbladder NEC-related genes was identified,and its biological functions and features were compared with those of gallbladder carcinoma.CONCLUSION Gallbladder NEC requires standardized treatment.Comparisons with other gallbladder carcinomas revealed clinical phenotypes,molecular alterations,functional characteristics,and enriched pathways.

Stage IV malignant transformation of mature cystic teratoma palliatively treated with concurrent chemoradiotherapy:A case report

BACKGROUND Malignant transformation(MT)of mature cystic teratoma(MCT)has a poor prognosis,especially in advanced cases.Concurrent chemoradiotherapy(CCRT)has an inhibitory effect on MT.CASE SUMMARY Herein,we present a case in which CCRT had a reduction effect preoperatively.A 73-year-old woman with pyelonephritis was referred to our hospital.Computed tomography revealed right hydronephrosis and a 6-cm pelvic mass.Endoscopic ultrasound-guided fine-needle biopsy(EUS-FNB)revealed squamous cell carci-noma.The patient was diagnosed with MT of MCT.Due to her poor general con-dition and renal malfunction,we selected CCRT,expecting fewer adverse effects.After CCRT,her performance status improved,and the tumor size was reduced;surgery was performed.Five months postoperatively,the patient developed dis-semination and lymph node metastases.Palliative chemotherapy was ineffective.She died 18 months after treatment initiation.CONCLUSION EUS-FNB was useful in the diagnosis of MT of MCT;CCRT suppressed the disea-se and improved quality of life.

Brachioradialis tendon transfer and palmaris longus tendon graft for thumb avulsion:A case report and review of literature

BACKGROUND Thumb replantation following complete traumatic avulsion requires complex techniques to restore function,especially in cases of avulsion at the level of the metacarpophalangeal joint(MCP I)and avulsion of the flexor pollicis longus(FPL)at the musculotendinous junction.Possible treatments include direct tendon suture or tendon transfer,most commonly from the ring finger.To optimize function and avoid donor finger complications,we performed thumb replantation with flexion restoration using brachioradialis(BR)tendon transfer with palmaris longus(PL)tendon graft.CASE SUMMARY A 20-year-old left-handed male was admitted for a complete traumatic left thumb amputation following an accident while sliding from the top of a handrail.The patient presented with skin and bone avulsion at the MCP I,avulsion of the FPL tendon at the musculotendinous junction(zone 5),avulsion of the extensor pollicis longus tendon(zone T3),and avulsion of the thumb’s collateral arteries and nerves.The patient was treated with two stage thumb repair.The first intervention consisted of thumb replantation with MCP I arthrodesis,resection of avulsed FPL tendon and implantation of a silicone tendon prosthesis.The second intervention consisted of PL tendon graft and BR tendon transfer.Follow-up at 10 months showed good outcomes with active interphalangeal flexion of 70°,grip strength of 45 kg,key pinch strength of 15 kg and two-point discrimination threshold of 4 mm.CONCLUSION Flexion restoration after complete thumb amputation with FPL avulsion at the musculotendinous junction can be achieved using BR tendon transfer with PL tendon graft.

Denosumab combined with immunotherapy,radiotherapy,and granulocyte-macrophage colony-stimulating factor for the treatment of metastatic nasopharyngeal carcinoma:A case report

BACKGROUND Bone is a major site of metastasis in nasopharyngeal carcinoma(NPC).Recently,nuclear factor kappa-beta ligand(RANKL)inhibitors have garnered attention for their ability to inhibit osteoclast formation and bone resorption,as well as their potential to modulate immune functions and thereby enhance the efficacy of programmed cell death protein 1(PD-1)inhibitor therapy.CASE SUMMARY We present a case of a patient with NPC who developed sternal stalk metastasis and multiple bone metastases with soft tissue invasion following radical chemoradiotherapy and targeted therapy.Prior to chemotherapy,the patient experienced severe bone marrow suppression and opted out of further chemotherapy sessions.However,the patient received combination therapy,including RANKL inhibitors(denosumab)alongside PD-1,radiotherapy,and granulocyte-macrophage colonystimulating factor(PRaG)therapy(NCT05435768),and achieved 16 months of progression-free survival and more than 35 months of overall survival,without encountering any grade 2 or higher treatment-related adverse events.CONCLUSION Denosumab combined with PRaG therapy could be a new therapeutic approach for the second-line treatment in patients with bone metastases.

Performance of a Combined Energy System Consisting of Solar Collector, Biogas Dry Reforming and Solid Oxide Fuel Cell: An Indian Case Study

An energy production system consisting of a solar collector, biogas dry reforming reactor and solid oxide fuel cell (SOFC) was assumed to be installed in Kolkata, India. This study aims to understand the impact of climate conditions on the performance of solar collectors with different lengths of parabolic trough solar collector (dx) and mass flow rate of heat transfer fluid (m). In addition, this study has evaluated the amount of H2 produced by biogas dry reforming (GH2), the amount of power generated by SOFC (PSOFC) and the maximum number of possible households (N) whose electricity demand could be met by the energy system proposed, considering the performance of solar collector with the different dx and m. As a result, the optimum dx was found to be 4 m. This study revealed that the temperature of heat transfer fluid (Tfb) decreased with the increase in m. Tfb in March, April and May was higher than that in other months, while Tfb from June to December was the lowest. GH2, PSOFC and N in March, April and May were higher than those in other months, irrespective of m. The optimum m was 0.030 kg/s.

Complete response of gallbladder cancer treated with gemcitabine and cisplatin chemotherapy combined with durvalumab:A case report and review of literature

BACKGROUND Gallbladder cancer(GBC)is the most common and aggressive subtype of biliary tract cancer(BTC)and has a poor prognosis.A newly developed regimen of gemcitabine,cisplatin,and durvalumab shows promise for the treatment of advanced BTC.However,the efficacy of this treatment for GBC remains unclear.CASE SUMMARY In this report,we present a case in which the triple-drug regimen exhibited marked effectiveness in treating locally advanced GBC,thus leading to a long-term survival benefit.A 68-year-old man was diagnosed with locally advanced GBC,which rendered him ineligible for curative surgery.Following three cycles of therapy,a partial response was observed.After one year of combined therapy,a clinical complete response was successfully achieved.Subsequent maintenance therapy with durvalumab monotherapy resulted in a disease-free survival of 9 months for the patient.The patient experienced tolerable toxicities of reversible grade 2 nausea and fatigue.Tolerable adverse events were observed in the patient throughout the entirety of the treatment.CONCLUSION The combination of gemcitabine and cisplatin chemotherapy with durvalumab was proven to be an effective treatment approach for advanced GBC,with manageable adverse events.Further research is warranted to substantiate the effectiveness of the combined regimen in the context of GBC.

Systemic thrombosis with prothrombin Belgrade mutation in a Chinese patient:A case report

BACKGROUND Thrombophilia contributes to a significant increased risk of venous thromboembolism and can be either inherited or acquired.Hereditary thrombophilia may arise from various gene mutations,some of which have not even been adequately reported or poorly understood.Previous studies reported a rare and novel missense mutation in the prothrombin gene(p.Arg596Gln),known as prothrombin Belgrade.The mechanisms and therapeutic strategies associated with prothrombin Belgrade mutation have not been fully elucidated.CASE SUMMARY We present the case of a 26-year-old woman with recurrent systemic thrombosis induced by prothrombin Belgrade mutation.The patient suffered from cerebral venous sinus thrombosis that rapidly progressed to systemic thrombosis,alongside a family history of cerebral thrombosis,and no traditional risk factors or abnormal coagulation function.Whole-genome sequencing detected a novel and rare heterozygous prothrombin missense mutation,c.1787G>T(p.Arg596Gln),which was responsible for the major etiology of the systemic thrombosis.CONCLUSION This case strengthens our understanding about hereditary basis of thrombophilia and provokes considerations for therapeutic options on prothrombin Belgrade mutation.

Scapular metastasis from acinic cell carcinoma of parotid gland:A case report

BACKGROUND Acinic cell carcinoma(ACC)is a malignant epithelial neoplasm that commonly occurs in the parotid gland.It is known to have a high recurrence rate and the potential to metastasize to the lung or cervical lymph nodes.However,few cases of ACC with bone metastasis have been reported in the medical literature.CASE SUMMARY The clinical significance of this case report lies in the unique site of occurrence of the metastasis:To the best of our knowledge,this report is the only literature documenting ACC arising in a shoulder mass.CONCLUSION Unusual presentations of uncommon malignancies can present diagnostic challenges for both surgeons and histopathologists.It is important to be aware of these rare occurrences in order to provide the best possible treatment for patients.

Multiple liver metastases of unknown origin:A case report

BACKGROUND The liver is the most common site of digestive system tumor metastasis,but not all liver metastases can be traced back to the primary lesions.Although it is unusual,syphilis can impact the liver,manifesting as syphilitic hepatitis with inflammatory nodules,which might be misdiagnosed as metastasis.CASE SUMMARY This case report involves a 46-year-old female who developed right upper abdominal pain and intermittent low fever that persisted for more than three months.No definitive diagnosis of a tumor had been made in the past decades,but signs of multiple liver metastases were recognized after a computed tomo-graphy scan without evidence of primary lesions.With positive serological tests for syphilis and a biopsy of the liver nodules,a diagnosis of hepatic syphilis was made and confirmed with follow-up nodule reduction after anti-syphilis therapy.CONCLUSION Clinicians must be aware of the possibility that syphilis can cause hepatic inflam-matory masses,especially when liver metastasis is suspected without evidence of primary lesions.A definitive diagnosis should be established in conjunction with a review of the patient’s medical history for accurate therapeutic intervention.

Ultrasound features of congenital cytomegalovirus infection in the first trimester:A case report

BACKGROUND Congenital cytomegalovirus(CMV)infection represents a significant public health concern as the most prevalent viral infection in newborns,potentially leading to severe neurological and developmental complications.The majority of cases are asymptomatic and remain undetected during pregnancy due to the absence of effective screening methods.CASE SUMMARY A 27-year-old primigravida presented for early pregnancy ultrasound,which revealed an atypical finding:A normal anechoic thalamus appearing hyperechoic on the mid-sagittal view of the fetal head.Subsequent ultrasound examinations during mid and late gestation demonstrated classic intracranial features sug-gestive of congenital CMV infection.Chromosomal karyotyping and microarray analysis of the fetus yielded no significant abnormalities.Following compre-hensive prenatal counseling regarding potential adverse fetal outcomes,the patient elected to continue her pregnancy.She ultimately underwent cesarean delivery at 42 weeks gestation at another facility,resulting in the birth of a female neonate.At five months of age,the infant presented with epilepsy and significant growth and developmental delays.CONCLUSION Congenital CMV infection occurs during the first trimester may manifest as hyperechoic thalamus which can be revealed by ultrasound in the mid-saggital view of the fetal head.Future research should investigate the correlation between echogenic thalamus and developmental outcomes,as well as explore early sc-reening techniques for suspected congenital CMV infection cases.

Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia:A case report

BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.

Saccharomyces boulardii as a single trigger of food protein-induced enterocolitis syndrome: Seven case reports

BACKGROUND Food protein-induced enterocolitis syndrome(FPIES)is the most serious type of non-immunoglobulin E(IgE)-mediated food allergic reaction manifesting as sepsis-like symptom,which can lead to shock.Saccharomyces boulardii(S.boulardii),a probiotic prescribed frequently in clinical settings,has been reported to trigger FPIES in an infant with soy-triggered FPIES.In this report,we describe a new clinical FPIES in which S.boulardii was the sole triggering factor of acute FPIES adverse reaction in seven healthy infants.CASE SUMMARY Seven FPIES cases triggered by only S.boulardii were gathered from 2011 to the present.None of the patients had previously experienced any allergic reaction to cow’s milk,soy,or complementary food.The age of the patients was 4-10-months old,and the symptoms of FPIES developed after ingestion of S.boulardii,which is mostly prescribed for the treatment of gastroenteritis or antibiotic-associated diarrhea.All patients experienced severe repetitive vomiting 1-3 hours after S.boulardii ingestion.Extreme lethargy,marked pallor,and cyanosis were also observed.No IgE-mediated hypersensitivity developed in any patient.Diarrhea was followed by initial intense vomiting in approximately 5-10 hours after S.boulardii ingestion,and only one case showed bloody,purulent,and foul-smelling diarrhea.The patients stabilized quickly,mostly within 6 hours.Symptoms got all improved within 24 hours after discontinuation of S.boulardii.CONCLUSION S.boulardii can be the sole trigger of acute FPIES and be prescribed cautiously even in healthy children without FPIES.

Masquelet technique using an allogeneic cortical bone graft for a large bone defect:A case report

BACKGROUND The induced-membrane technique was initially described by Masquelet as an effective treatment for large bone defects,especially those caused by infection.Here,we report a case of chronic osteomyelitis of the radius associated with a 9 cm bone defect,which was filled with a large allogeneic cortical bone graft from a bone bank.Complete bony union was achieved after 14 months of follow-up.Previous studies have used autogenous bone as the primary bone source for the Masquelet technique;in our case,the exclusive use of allografts is as successful as the use of autologous bone grafts.With the advent of bone banks,it is possible to obtain an unlimited amount of allograft,and the Masquelet technique may be further improved based on this new way of bone grafting.CASE SUMMARY In this study,we reported a case of repair of a long bone defect in a 40-year-old male patient,which was characterized by the utilization of allograft cortical bone combined with the Masquelet technique for the treatment of the patient's long bone defect in the forearm.The patient's results of functional recovery of the forearm were surprising,which further deepens the scope of application of Masquelet technique and helps to strengthen the efficacy of Masquelet technique in the treatment of long bones indeed.CONCLUSION Allograft cortical bone combined with the Masquelet technique provides a new method of treatment to large bone defect.

Combined BRAF G469A mutation and echinoderm microtubule associated protein like-4-anaplastic lymphoma kinase rearrangement with resistance:A case report and review of literature

BACKGROUND Through deeper understanding of targetable driver mutations in non-small-cell lung cancer(NSCLC)over the past years,some patients with driver mutations have benefited from the targeted molecular therapies.Although the anaplastic lymphoma kinase and BRAF mutations are not frequent subtypes in NSCLC,the availability of several targeted-drugs has been confirmed through a series of clinical trials.But little is clear about the proper strategy in rare BRAF G469A mutation,not to mention co-exhibition of anaplastic lymphoma kinase and BRAF G469A mutations,which is extremely rare in NSCLC.CASE SUMMARY We present a patient to stage IVA lung adenocarcinoma with coexisting echinoderm microtubule associated protein like-4 rearrangement and BRAF G469A mutation.She received several targeted drugs with unintended resistance and suffered from unbearable adverse events.CONCLUSION Due to the rarity of co-mutations,the case not only enriches the limited literature on NSCLC harbouring BRAF G469A and echinoderm microtubule associated protein like-4 mutations,but also suggests the efficacy and safety of specific multiple-drug therapy in such patients.

Application of Dorzagliatin in peritoneal dialysis patients with type 2 diabetes mellitus:A case report

BACKGROUND Treating diabetes in dialysis patients remains a challenge,with many hypoglycemic drugs requiring dose adjustments or avoidance in these patients.CASE SUMMARY This report describes an 83-year-old female patient with a 30-year history of type 2 diabetes(T2DM)who had struggled to control her blood sugar for more than a year.She had a history of high blood pressure for 30 years,had undergone continuous ambulatory peritoneal dialysis for more than two years,was 163 cm tall,weighed 77 kg,and had a body mass index of 28.98 kg/m2.Despite intensive insulin therapy at a daily dose of 150 units,adding Dorzagliatin at a dosage of 75 mg orally twice daily led to immediate blood sugar improvement and a gradual reduction in insulin dosage.After one month of follow-up,the fasting plasma glucose was 6-8 mmol/L,and the 2-hour postprandial glucose was 8-12 mmol/L.CONCLUSION To our knowledge,this report is the first to use Dorzagliatin to treat type 2 diabetes peritoneal dialysis patients with challenging glucose control.Dorzagliatin,a novel glucokinase activator primarily metabolized by the liver,exhibits no pharmacokinetic differences among patients with varying degrees of chronic kidney disease.It has a high plasma protein binding rate and may not be cleared by peritoneal dialysis,potentially offering a new glycemic control option for Type 2 diabetic patients on peritoneal dialysis.

Primary parenchymal squamous cell carcinoma of the kidney:A case report

BACKGROUND Primary squamous cell carcinoma(SCC)of the renal parenchyma is extremely rare,with only nine cases reported.CASE SUMMARY This study reports a 51-year-old man with primary SCC of the renal parenchyma.The patient was admitted with recurrent dull pain and discomfort in the right lumbar region,which had worsened over 2 weeks,accompanied by painful gross hematuria.SCC antigen(SCCA)levels were elevated,and imaging revealed a renal mass with associated calculi.The patient underwent laparoscopic unilateral nephrectomy and lymph node dissection.Postoperative pathology confirmed highly differentiated SCC with necrosis in the right renal parenchyma,with negative renal pelvis and ureter.The pathological stage was Pt3aN1M0.Four months after surgery,the tumor recurred with involvement of the liver,right psoas major muscle,and inferior vena cava.The patient refused chemotherapy and succumbed to the disease 6 months postoperatively due to disease progression.CONCLUSION We report a case of primary SCC of the renal parenchyma,a rare renal malignancy.The clinical symptoms,laboratory tests,and imaging findings are nonspecific,making accurate and timely diagnosis challenging.According to the literature,for patients with renal calculi accompanied by a renal mass,elevated serum SCCA levels,and magnetic resonance imaging showing cystic or cystic-solid masses within the kidney with pseudocapsules and heterogeneous mild enhancement,the possibility of this disease should be considered.

Cauda equina syndrome with urinary retention as a postoperative complication of lumbar spine surgery:A case report

BACKGROUND Cauda equina syndrome(CES)is characterized by a group of symptoms that may be caused by inflammation,spinal cord compression,venous congestion,or ischemia.This syndrome is commonly an indication for surgical intervention but has not been determined as a postoperative complication following surgery for lumbar spine disease.CASE SUMMARY To report the case of a 54-year-old male patient who had CES following spinal surgery,with no obvious compression lesions found during re-exploration,suggesting that vascular insufficiency may have contributed to the condition.Furthermore,a series of urodynamic studies on bladder recovery patterns in such complications have also been investigated.CONCLUSION Postoperative CES requires urgent imaging and exploration to rule out compression;noncompressive cases,including vascular insufficiency may performed conservative management.

Pulp health and calcific healing of a complicated crown–root fracture with additional root fracture in a maxillary incisor: A case report

BACKGROUND Complicated crown–root fracture (CRF) involves severe injury to the crown, root,and pulp, and may be accompanied by multiple root fractures. The loss of a toothhas lifelong consequences for children and teenagers, but the maintenance of pulphealth and the calcific healing of multiple root fractures are rarely reported in theliterature.CASE SUMMARY This case reports healing of a permanent tooth with complicated crown–root andadditional root fractures, in which pulp health was maintained. A 10-year-old girlfell and fractured the root of her maxillary left central incisor at the cervical level.After the coronal fragment was repositioned, the tooth was splinted until thetooth was no longer mobile, 2 years later. Eight years after treatment, the toothhas remained asymptomatic with vital pulp and localized gingival overgrowth.Cone-beam computed tomography revealed not only calcified healing of the CRFbut also spontaneous healing in an additional undiagnosed root fracture. Thefracture line on the enamel could not be healed by hard tissue and formed agroove in the cervical crown. It was speculated that the groove was related to thelocalized gingival overgrowth.CONCLUSION This case provides a clinical perspective of the treatment of a tooth with acomplicated CRF and an additional root fracture.

Individualized treatment guided by endoscopic ultrasound-guided fine-needle aspiration for adrenocortical oncocytoma:A case report

BACKGROUND Adrenocortical oncocytoma is a rare,mostly benign,nonfunctional tumor that is typically detected incidentally.Its diagnosis is challenging because of the absence of distinctive imaging characteristics,necessitating pathological validation.CASE SUMMARY We present a case report of a 35-year-old woman with an adrenal mass located on the left side,where endoscopic ultrasound-guided fine-needle aspiration(EUSFNA)was performed after comprehensive diagnostic assessment.Our results are consistent with those of previously documented cases regarding tumor demographics and anatomical location.Given the limited number of reports on this condition,long-term follow-up is crucial to enhance our understanding of its prognosis.CONCLUSION For patients with adrenocortical oncocytoma,EUS-FNA can enables collection of preoperative tissue specimens leading to suitable treatment strategies.

Discovery of primary lung cancer following resection of rectal cancer lung metastasis:A case report

BACKGROUND Colorectal cancer(CRC)ranks high among the most common types of malignant tumors.The primary cause of cancer-related mortality is metastasis,with lung metastases accounting for 32.9%of all cases of metastatic CRC(MCRC).However,cases of MCRC in the lungs,which present concurrently with primary peripheral lung adenocarcinoma,are exceptionally rare.CASE SUMMARY This report describes the case of a 52-year-old female patient who,following a colonoscopy,was diagnosed with moderately differentiated adenocarcinoma based on rectal mucosal biopsy findings.A preoperative chest computed tomography scan revealed a ground-glass nodule in the right lung and a small nodule(approximately 0.6 cm in diameter)in the extramural basal segment of the left lower lobe,which suggested multiple lung metastases from rectal cancer.Subsequent treatment and follow-up led to a diagnosis of rectal cancer with left lung metastasis and peripheral adenocarcinoma of the lower lobe of the right lung.CONCLUSION This case report describes the therapeutic journey of a patient with lung metastasis from rectal cancer in addition to primary peripheral adenocarcinoma,thus underscoring the critical roles of multidisciplinary collaboration,personalized treatment strategies,and comprehensive patient rehabilitation guidance.