Case report: A case with atypical presentation oftesticular choriocarcinoma.

Testicular choriocarcinoma is a relatively rare malignancy with a highly aggressive nature. Timely diagnosis and treatment can help prolong the survival of patients and even cure them. This case reports a 29-year-old male who presented to the clinic for a month with epigastric pain. On examination, a massive mass of approximately 9*10 cm could be palpated in the upper abdomen. When asked about his previous history, the patient only described a history of a right inguinal hernia that had been repaired 12 years earlier. The admission diagnosis was considered the retroperitoneal tumor, which was found to have metastasized to the liver and lungs after the completion of relevant tests. We then performed a CT-guided lune puncture biopsy on day 8 of admission. The biopsy pathology suggested metastatic cancer was considered. As the symptoms of tumor compression gradually worsened, we performed surgical treatment (retroperitoneal tumor resection + partial duodenal resection + enteroanastomosis) on day 13 of admission. The postoperative pathology was choriocarcinoma. We subsequently conducted a detailed inquiry with the patient's family about his medical history and found a history of inguinal testicle. Through testicular ultrasound examination, it was preliminarily determined to be testicular choriocarcinoma (not yet pathologically confirmed). We wanted to start salvage chemotherapy as soon as possible after surgery. However, the patient's postoperative condition was poor, with rapid progression of hepatopulmonary metastases and gradually increased thyrotoxicosis, and we started salvage chemotherapy (EP regimen: etoposide and cisplatin) on postoperative day 12. However, the patient was forced to stop due to a severe chemotherapy reaction and died of respiratory and cardiac arrest in the hospital. For male patients with retroperitoneal mass, the possibility of germ-cell neoplasm should first be excluded. By inquiring in detail about a history of cryptorchidism and in the initial days of hospitalization, testicular exploration, ultrasounds, and serum tumor markers (AFP, ß-HCG) tests can be conducted to rule out the possibility of germ-cell neoplasm, thereby preventing misdiagnosis and treatment delays. If the clinical diagnosis is metastatic germ-cell tumor with severe symptoms of metastatic disease, surgery should never be used as the initial treatment.

Review of metastasis to meningiomas with case examples.

Introduction: A tumor-to-tumor metastasis (TTM) is a rare metastatic process where a primary malignant tumor metastasizes to another tumor, most commonly a benign tumor such as a meningioma. Here, we present two recent cases of tumor-to-meningioma metastases (TMM) from our clinical practice and review of recent literature. The primary cancers were prostate and breast cancer, respectively. Material and methods: We reviewed the electronic medical records of the two patients and conducted a literature review of TTM, focusing on biological mechanisms related to TMM. Results: Our first patient, a man with a history of stable prostate cancer, underwent resection of two WHO grade 1 meningiomas, and the largest tumor was found to have TMM. Our second patient, a woman with progressive breast cancer, was operated for a WHO grade II meningioma, and the meningioma harbored breast cancer metastases. TMM is a rare occurrence, but breast cancer is a much more frequent cause than prostate cancer and we reviewed 50 cases. Only 15 of cases of TMM from prostate cancer have been described. Discussion and conclusion: TMM is a rare phenomenon, but it is important to be aware of this as more and more patients live with cancer and meningiomas have a high prevalence, The possibility of TMM may impact not only both the surgical and oncological treatment but also surveillance of incidental meningiomas.

Combination approach for CDC73-related parathyroid carcinoma in an adolescent female patient: a case report and literature review.

Parathyroid carcinoma (PC) is extremely rare in children and adolescent. PC is more often sporadic, but also it could be associated with germline mutations. The clinical features of primary hyperparathyroidism (PHPT) are nonspecific in children and adolescent, which delays the diagnosis for years. This case of PC in a pediatric patient, caused by germline heterozygous pathogenic variant in exon 1 of the CDC73 gene (c.70 G > T, p. Glu24Ter) is the first to be reported in Russia. Due to the rarity of pediatric parathyroid malignancy, the diagnosis of this endocrine neoplasm remains a challenge. The main difficulties that we faced in the management of the patient were the morphological confirmation of diagnosis, multiple surgical interventions, and disseminated PC metastases. We describe a 13-year-old girl with delayed diagnosis of PC and subsequent local recurrence after several surgeries, who underwent specific radiation therapy that allowed controlling hypercalcemia.

Takayasu arteritis manifesting as acute kidney injury and congestion due to renal artery stenosis and myocarditis: a case report.

Background: Takayasu arteritis is a large-vessel vasculitis that affects the aorta and its primary branches. Myocarditis is a rare life-threatening complication and potential diagnostic pitfall in patients with Takayasu arteritis. Case summary: A previously healthy 18-year-old woman presenting with fever, back pain, and dyspnoea was admitted to another hospital for acute hypertension (blood pressure, 230/106 mmHg) and congestive heart failure. Intravenous methylprednisolone pulse with antihypertensive and diuretic medications slightly improved her congestion. However, she developed acute kidney injury and was transferred to our hospital. Transthoracic echocardiography indicated a left ventricular ejection fraction of 45% and diffuse left ventricular hypokinesis. Doppler ultrasound test and magnetic resonance angiography revealed severe bilateral renal artery stenosis. Her diagnosis was Takayasu arteritis, and she received high-dose glucocorticoids. She required temporary haemodialysis, but 2 months after admission, her serum creatinine improved to 1.1 mg/dL without surgical or cardiovascular interventions. Although the pre-discharge test with 1.5 T cardiac magnetic resonance initially failed to diagnose myocarditis, 3 T cardiac magnetic resonance imaging revealed increased native T1 values on T1 mapping (1283-1393 ms), moderate pericardial effusion, and systolic left ventricular wall motion abnormality, indicating active myocarditis. During 6-month subcutaneous tocilizumab treatment (162 mg/week), a left ventricular ejection fraction improved to 55-60% without a relapse. Discussion: This case report highlights the benefits of early multimodal imaging tests including cardiac magnetic resonance imaging for myocarditis and renal artery involvement in Takayasu arteritis. Tocilizumab might be an efficient therapeutic option for severe acute manifestations including myocarditis in young women of reproductive age.

Mature Cystic Teratoma in a Newborn With Down Syndrome.

Retroperitoneal teratomas are uncommon neoplasms that cause diagnostic dilemmas in neonates during the evaluation of abdominal cystic mass lesions. Down syndrome (DS) is a chromosomal abnormality with an extra third copy of chromosome 21. Due to chromosomal instability, DS is inferred to be a cancer predisposition syndrome. The malignancy pattern in DS is unique with higher incidence of hematological malignancies and solid tumors are rarely reported. Down syndrome neonate was incidentally diagnosed with a retroperitoneal cystic lesion along the left kidney during evaluation for poor feeding on ultrasonography, raising suspicion of an adrenal hemorrhagic cyst. CECT abdomen and pelvis revealed complex cystic lesions along the left renal hilum, with the possibility of cystic neuroblastoma, retroperitoneal cystic teratoma, and cystic lymphangioma. Tumor markers were within normal limits. Surgical exploration revealed a left renal hilar solitary cystic mass lesion, which was excised in toto with a probable intraoperative diagnosis of cystic lymphangioma. The postoperative course was uneventful. Histopathological examination confirmed that the lesion was a mature cystic teratoma. The child is doing well postoperatively at the one-year follow-up. Neonatal retroperitoneal teratomas are unusual neoplasms. A favorable outcome can be achieved, with early diagnosis and treatment.

Fluoropyrimidine Toxicities and DPYD Genotyping: A Clinical Case.

Fluoropyrimidines are metabolized mainly by the enzyme dihydropyrimidine dehydrogenase (DPD). Some variants in the coding gene, DPYD, have already been associated with increased toxicity, and their testing is recommended in patients proposed for treatment with these drugs. In this clinical case, a patient without the four variants recommended for testing showed toxicity from the second cycle of capecitabine onwards, requiring hospitalization in the third cycle. Sequencing of the DPYD gene showed the presence of three heterozygous variants which the laboratory interpreted as deleterious to the expression or function of DPD. In the absence of phenotypic testing, the patient stopped treatment, which is also the usual procedure in the case of compound heterozygosity of the variants usually tested. The literature review shows data for and against the role of each variant found in fluoropyrimidine toxicity, but there may be more concrete data in the study of haplotypes with multiple variants and the need to research alterations in other genes to better understand their relationship with toxicity.

The Use of Point-of-Care Ultrasound in the Diagnosis and Percutaneous Aspiration of Liver Abscess in a Resource-Limited Country: A Case Report.

Diagnosis and management of liver abscesses in low- and middle-income countries (LMICs) is difficult due to limited diagnostic imaging availability. Limited data is available describing the use of point-of-care ultrasound (POCUS) in the diagnosis and percutaneous aspiration of liver abscesses in resource-limited countries. We describe a 21-year-old female who was diagnosed with a liver abscess. The diagnosis of liver abscess was made via POCUS, and the patient was successfully managed with empiric antimicrobials and repeated POCUS-assisted percutaneous needle aspiration. In resource-limited settings, adequate training of personnel and availability of POCUS may help in early diagnosis and treatment of liver abscess - thus helping to reduce its related morbidity and mortality - while also aiding in resource conservation.

Primary Hepatic Squamous Cell Carcinoma: A Case Report.

Primary squamous cell carcinoma (SCC) of the liver, a notably uncommon type of cancer, is frequently linked with diverse hepatic conditions including hepatic cysts, hepatolithiasis, and hepatic teratoma. Literature indicates that only approximately 30 cases of primary SCC of the liver have been documented. Herein, we report a 54-year-old previously healthy patient who was presented with cholangitis symptoms. Examinations revealed normal vitals. However, deranged liver function with transaminitis and hyperbilirubinemia were noticed. A CT scan showed a hepatic mass with bile duct dilation. Biopsy confirmed hepatic squamous cell carcinoma, leading to chemotherapy treatment. Despite treatment, the survival outcomes for this cancer remain limited, and the prognosis is generally unfavorable.

Application of Novel Wearable Self-Balancing Exoskeleton Robot Capable for Complete Self-Support in Post-stroke Rehabilitation: A Case Study.

Early weight-bearing and trunk control training are essential components for promoting lower limb motor recovery in individuals with stroke. In this case study, we presented the successful implementation of a three-week wearable self-balancing exoskeleton robot training program for a 57-year-old male patient who had suffered from a stroke. After carefully reviewing the patient's previous medical records, conducting a thorough assessment, and excluding other potential contraindications, we introduced wearable self-balancing exoskeleton robot training to complement conventional rehabilitation in managing balance and lower limb function. The training program included early initiation of weight bearing and trunk control training following an ischemic stroke, aimed at promoting motor recovery and improving functional independence. The findings indicated that training with a wearable self-balancing exoskeleton robot enhanced the balance and motor function of the hemiplegic patient, with commendable adherence. Furthermore, the participants consistently reported increased satisfaction and confidence during the training sessions. This case report not only provided preliminary evidence of the effectiveness of the wearable self-balancing exoskeleton robot in promoting functional recovery following a stroke but also outlined a comprehensive training program that may hold value for future clinical application.

Idiopathic Intracranial Hypertension as a Differential Diagnosis in Persistent Idiopathic Facial Pain: A Case Report.

Persistent idiopathic facial pain (PIFP), previously known as atypical facial pain (ATFP), is a chronic pain disorder with the characteristic of persistent, undulating pain in the face or the teeth without a known cause or any structural correlation. Women are more commonly affected than men. We report a case of a 38-year-old married female patient with a history of Crohn's disease who presented to the oral and maxillofacial surgery (OMFS) clinic with chronic dull bilateral facial pain and headache mainly affecting the right side of the face and neck without a known cause. She was initially diagnosed with PIFP due to a badly decayed right wisdom tooth. Wisdom teeth were extracted secondary to vague complaints of discomfort due to wisdom teeth; however, no significant improvement was noticed. Further investigations were carried out with new CT scans and magnetic resonance venography (MRV), which revealed evidence of having idiopathic intracranial hypertension (IIH), described as increased intracranial pressure with facial pain, headache, tinnitus, and papilledema. The patient was referred to neurology and received appropriate treatment. She began her treatment with topiramate, then transitioned to acetazolamide, underwent bilateral botulinum toxin (botox) injections into the temporal region, and underwent regular follow-up. The patient was significantly improved. Idiopathic intracranial hypertension must be ruled out in cases of PIFP that do not respond to ordinary treatment measures.

A Radicular Cyst in the Mandibular Anterior Region of Primary Teeth.

Radicular cysts are common among odontogenic cysts but are rare in primary teeth. They occur more frequently in the mandibular molar region and rarely in the mandibular anterior region. This is a case of a radicular cyst in the mandibular anterior teeth during the primary dentition stage. In addition, after the fenestration of cystic lesions, gauze is generally changed to prevent the extraction socket from closing. However, in this case, the patient was six years old. Therefore, to alleviate the burden of changing the dressing gauze, we practiced putting on and taking off the obturator before fenestration and using it immediately after surgery under general anesthesia. This made it possible to change the dressing gauze after surgery. We were able to maintain an open wound without the burden of dressing gauze changes. The use of the device was shown to be effective in maintaining open wounds in young patients.

Metaplastic Breast Cancer: A Case Report on a Rare Neoplasm of the Breast.

Metaplastic breast cancer represents a very rare and histopathologically diverse subtype of breast cancer. It shows neoplastic epithelial differentiation into squamous cells and/or mesenchymal-like components, resulting in its aggressive behavior and poor prognosis compared to other types of breast cancer. Here, we describe the case of a 43-year-old woman diagnosed with metaplastic carcinoma of the breast who presented like any other case of breast lump in the right breast for six months. The tumor had a large size with an ulcerative lesion of the breast. Ultrasound showed heterogeneous echogenicity and lymph node involvement. Surgical resection with axillary lymph node dissection was done. The microscopic examination after tissue processing showed highly pleomorphic tumor cells along with chondromyxoid stroma and osseous differentiation, suggestive of metaplastic breast cancer which was triple-negative for estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 on immunohistochemistry. The axillary lymph nodes identified were negative for tumor cells. The rarity and aggressive nature of this cancer pose diagnostic challenges and highlight the importance of multidisciplinary approaches for effective management.

Bilateral Blistering Rash Following Gastric Bypass Procedure and Mushroom Soup Diet: Hepatitis C Virus-Seronegative Necrolytic Acral Erythema.

Necrolytic acral erythema (NAE) is an uncommon cutaneous disorder characterized by a symmetric acral distribution of erythematous plaques with underlying epidermal necrosis. While typically presenting in the context of hepatitis C virus (HCV) infection, NAE can also present secondary to nutritional deficiency or systemic disease. We present a case of NAE in a 66-year-old patient with no history of HCV infection status post gastric bypass who had a three-month history of eating only mushroom soup. The patient underwent a punch biopsy and was tested for a variety of nutritional deficiencies. Biopsy demonstrated partial necrosis of the upper epidermis, with subjacent re-epithelialization, squamatization, and vacuolopathy of the basal epidermis. He was treated with zinc replacement therapy after initial trials of tacrolimus and clobetasol were unsuccessful. At follow-up, he had significant improvement of the lesions. This case provides an example of an atypical presentation of NAE in the absence of HCV infection that presented as a complication of gastric bypass-associated nutritional deficiency.

TSC1 splicing mutation in renal angiomyolipoma with epithelial cysts without fat: A very rare case report and literature review.

Renal angiomyolipoma is a benign mesenchymal tumor that can be divided into classical and other subtypes. Angiomyolipoma with epithelial cysts (AMLEC) is an extremely rare non classical subtype. AMLEC without fat component is even rarer. We report a case of AMLEC without fat in a 29-year-old man who was provisionally diagnosed with cystic renal carcinoma by ultrasonography, abdominal enhanced CT and MRI. He had no complaints, or personal or family history of TSC, or other malignancies. Based on imaging findings, robot-assisted laparoscopic nephron-sparing partial nephrectomy through a retroperitoneal approach was performed for the purpose of both diagnosis and treatment. We diagnosed AMLEC after considering the differential diagnosis of other cystic renal neoplasms, such as cystic renal carcinoma, multilocular cystic renal cell neoplasm of low malignant potential, adult cystic nephroma and mixed epithelium and stromal tumor. Meanwhile, the whole-exon sequencing (WES) results showed insert-splicing mutation in the 21st exon and 20th exon of the TSC1 gene. No treatments were performed after the operation and no evidence of recurrence or metastasis at regular follow-up.

Primary mucinous adenocarcinoma of the anterior mediastinum with HER-2 mutation: A rare case report.

We report the case of a 68-year-old male whose Computed Tomography (CT) scan presented a mass (68*62*54 mm) of the right anterior mediastinal and pathologically diagnosis was mucinous adenocarcinoma(MA). The peripheral vessels are surrounded by the big mass in the anterior mediastinum which was associated with multiple metastases, thus we performed palliative chemoradiotherapy and we tried Human Epidermal Growth Factor Receptor-2 (HER-2) inhibitors based on the Next Generation Sequencing. The patient passed away 16 months after the onset of the disease. In this report, we review the rare case of anterior mediastinum MA as well as perspectives for potential future treatments.

Pioneering robotic-assisted surgery for insulinoma during pregnancy: The first case report and literature review.

Introduction: Insulinoma during pregnancy is a rare condition with vague clinical symptoms, making diagnosis challenging. The standard treatment for insulinoma is surgical tumor removal, preferably using a minimally invasive method. However, there have been no recorded examples of employing a robotic platform in pregnant women with insulinoma. In this report, we present the first successful case of robotic enucleation for insulinoma during pregnancy. Case presentation: A 30-year-old pregnant woman presented with recurrent hypoglycemic symptoms throughout her first trimester that were relieved by food intake. After confirming endogenous hyperinsulinemia, an abdominal magnetic resonance imaging scan was performed to locate the tumor. A well-defined 2-cm mass was found in the pancreatic body. Robotic enucleation was performed at week 18 of gestation, and the patient experienced relief from hypoglycemic episodes postoperatively. Her blood glucose levels returned to normal, and she had an uneventful pregnancy. The patient eventually delivered a healthy baby via cesarean section without any complications. Conclusions: For a subset of pregnant individuals with insulinoma, a minimally invasive approach as robotic-assisted surgery is safe and feasible. This innovative technique has the potential to both mothers and fetuses.

Refractory pruritus caused by sintilimab and its clinical management: A case report.

Several immune related adverse events (irAEs) were reported with the wide application of immune checkpoint inhibitors (ICIs) in tumors. ICI-related skin reactions are the most common, which are manifested as maculopapules, rash, pruritus, vitiligo, psoriasis, and lichenoid rash.Among them, the incidence of pruritus is second only to maculopapule/rash, but both often co-exist. The severity of pruritus is mostly mild to moderate and can be relieved after symptomatic treatment with antihistamines. Symptoms are slightly relieved after conventional treatment in patients with severe pruritus, but it easily recurs and eventually develops into refractory pruritus.The patient's quality of life may be affected and may also be life-threatening. We report a case of a patient with postoperative recurrence of gallbladder neuroendocrine carcinoma,who developed refractory pruritus after sintilimab use, which was relieved after naloxone infusion after unsuccessful conventional drug therapy. By analyzing the treatment plan of this typical case of immune-related refractory pruritus after using sintilimab, this report discusses how clinical pharmacists can provide individualized treatment of patients by using their expertise and clinicians' cooperation and complementation in treating clinically difficult cases. This case report may be used as a reference in treating patients with refractory pruritus after the clinical use of sintilimab.

Ayurveda Management of IUGR due to single umbilical artery: A case report.

IUGR is defined as a rate of fetal growth that is less than normal for the expected growth potential of a specific infant. Fetuses with isolated single umbilical artery are at higher risk of prematurity, IUGR(Intra uterine growth restriction), and intrauterine death. Ayurveda provides a holistic approach towards garbhini paricharya (antenatal care). Nabhinadi (umbilical cord) nourishes the fetus, and abnormalities result in garbhashosha. This is a case report of IUGR associated with a single umbilical artery with no other abnormalities. The obstetric scan revealed decreased abdominal circumference and falling growth parameters. Ayurvedic medicines with brimhana, balya, prajasthapana actions were given. The outcome was a full-term baby of birth weight 2.5kg through vaginal delivery.

Swallowed secrets - Plastic bezoar-induced gastric outlet obstruction in a 14-year-old girl: A case report.

INTRODUCTION: Gastric outlet obstruction (GOO) is a rare but serious condition that can arise from various etiologies, including foreign body ingestion. We present a unique case of GOO in a 14-year-old girl resulting from the accumulation of plastic materials, known as a plastic bezoar, due to pica behavior. CASE PRESENTATION: A 14-year-old girl with a history of pica presented with symptoms suggestive of acute gastric obstruction. Imaging studies revealed the presence of a large foreign body extending from the stomach to the jejunum, consistent with a plastic bezoar. Despite attempts at endoscopic removal, surgical intervention was ultimately required due to the size and location of the bezoar. DISCUSSION: This case underscores the challenges associated with diagnosing and managing gastric outlet obstruction secondary to plastic bezoar formation, particularly in pediatric patients with underlying pica behavior. The diagnostic workup involved a multidisciplinary approach, including imaging studies and endoscopic evaluation. Surgical intervention, although invasive, proved necessary for definitive treatment in this case. Postoperative care focused on monitoring for complications and addressing the underlying pica behavior through psychological intervention and support. CONCLUSION: This case highlights the importance of early recognition, thorough diagnostic evaluation, and prompt intervention to prevent complications and ensure favorable outcomes. Collaborative efforts between medical and surgical teams are essential for the comprehensive management of such cases, emphasizing the need for tailored approaches to address both the physical and psychological aspects of care.

SMARCB1 (INI-1) deficient sinonasal carcinoma of the right maxillary sinus - A rare entity.

INTRODUCTION AND IMPORTANCE: SMARCB1 (INI-1) is a vital tumour suppressor gene on chromosome 22q11.2, preventing tumour development in the SWI/SNF complex. Mutations cause SMARCB1-deficient tumours with distinct features. Loss of INI-1 expression is seen in malignancies, including sinonasal carcinoma and atypical teratoid/rhabdoid tumours. Recently recognized as a separate entity, SMARCB1-deficient sinonasal carcinomas (SDSC) are rare, clinically aggressive, and mimic other malignancies, emphasizing their significant diagnosis due to poorer prognosis, particularly in the elderly. CASE PRESENTATION: A 66-year-old male presented with a 4-month-old right cheek swelling, diagnosed initially as a sinonasal neoplastic mass. The biopsy revealed sinonasal mucosal fragments infiltrated by a tumour with plasmacytoid morphology. Immunohistochemistry (IHC) of the tumour cells was positive for p63 and pan-cytokeratin and showed INI-1 loss. Subsequent subtotal maxillectomy was performed, and the patient received adjuvant chemotherapy and radiotherapy. At a thirteen-month follow-up, the patient achieved his daily activities with no signs of recurrence. CLINICAL DISCUSSION: The loss of protein expression in sinonasal cancer is predominantly attributed to the homozygous deletion of SMARCB1. SDSC, a profoundly invasive malignant carcinoma, tends to infiltrate sinuses and extend into the intracranial regions. The IHC findings of our case were in coherence with previous studies in SMARCB1. The prognosis is particularly unfavourable in males and advanced tumours. CONCLUSION: The tumour's microscopic and immunohistochemical characteristics indicated the SDSC. Due to its aggressive nature and high mortality rates, dealing with a paranasal mass, one should be suspicious of this tumour.