-
Frontiers in Pediatrics 2024This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland...
This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland China. Additionally, we provide a comprehensive review of the existing literature concerning CAIS with MDRs resulting from gene mutations. This study broadens the clinical spectrum of CAIS and offer novel insights for further exploration into Müllerian duct regression. A 14-year-old patient, initially raised as female, presented to the clinic with complaints of "primary amenorrhea." Physical examination revealed the following: armpit hair (Tanner stage 2), breast development (Tanner stage 4 with bilateral breast nodule diameter of 7 cm), sparse pubic hair (Tanner stage 3), clitoris measuring 0.8 cm × 0.4 cm, separate urethral and vaginal openings, and absence of palpable masses in the bilateral groin or labia majora. The external genital virilization score was 0 points. Serum follicle-stimulating hormone level was 13.43 IU/L, serum luteinizing hormone level was 31.24 IU/L, and serum testosterone level was 14.95 nmol/L. Pelvic magnetic resonance imaging (MRI) did not reveal a uterus or bilateral fallopian tubes, but nodules on both sides of the pelvic wall indicated cryptorchidism. The karyotype was 46,XY. Genetic testing identified a maternal-derived hemizygous variation c.2359C > T (p.Arg787*) in the gene. During abdominal exploration, dysplastic testicles and a dysplastic uterus were discovered. Histopathological analysis revealed the presence of fallopian tube-like structures adjacent to the testicles. The CAIS patient documented in this study exhibited concurrent MDRs, thus expanding the spectrum of clinical manifestations of AIS. A review of prior literature suggests that the incidence of CAIS combined with histologically MDRs is not uncommon. Consequently, the identification of MDRs in AIS cases may represent an integral aspect of clinical diagnosis for this condition.
PubMed: 38895190
DOI: 10.3389/fped.2024.1400319 -
Journal of Clinical Medicine May 2024Total hip arthroplasty (THA) has revolutionized patients' lives with hip osteoarthritis. However, the increasing prevalence of THA in individuals with prior lumbar... (Review)
Review
Total hip arthroplasty (THA) has revolutionized patients' lives with hip osteoarthritis. However, the increasing prevalence of THA in individuals with prior lumbar arthrodesis (LA) poses unique challenges. This review delves into the biomechanical alterations, complications, and surgical strategies specific to this patient subset, highlighting the need for tailored preoperative assessments and planning. Due to altered pelvic and spinal biomechanics, patients with LA undergoing THA face a higher risk of dislocation and revision. The complex interplay between spinal and hip biomechanics underscores the need for meticulous preoperative planning. Comprehensive clinical examination and radiographic evaluation are vital for understanding patient-specific challenges. Various radiographic techniques, including computed tomography (CT)/X-ray matching and standing/seated studies, provide insights into postural changes affecting pelvic and spinal alignment. Complications following THA in patients with LA highlight the necessity for personalized surgical strategies. Careful consideration of implant selection, the surgical approach, and component positioning are essential to prevent complications. In summary, THA in patients with prior LA demands individualized preoperative assessments and planning. This approach is crucial to optimize outcomes and mitigate the heightened risks of complications, underlining the importance of tailored surgical strategies.
PubMed: 38892866
DOI: 10.3390/jcm13113156 -
Cureus May 2024Chondrosarcomas are malignant cartilaginous tumors that usually affect the pelvic bone and long bones. Primary chondrosarcomas of the skull are rare, with the cranial...
Chondrosarcomas are malignant cartilaginous tumors that usually affect the pelvic bone and long bones. Primary chondrosarcomas of the skull are rare, with the cranial vault being an even more unusual localization. We report a case of a 75-year-old man presenting with headaches and outgrowth of the parietal scalp. CT scan of the head showed an extracranial cystic well-rounded mass originating at the parietal suture and eroding through the adjacent parietal bone. The patient underwent an en bloc surgical resection of the mass, and histological examination confirmed a grade I chondrosarcoma.
PubMed: 38883079
DOI: 10.7759/cureus.60398 -
Cureus May 2024Multimodality treatments, including chemotherapy, radiation, and surgery, have been evaluated to reduce the extent of resection and morbidity in patients with advanced...
Multimodality treatments, including chemotherapy, radiation, and surgery, have been evaluated to reduce the extent of resection and morbidity in patients with advanced vulvar cancer. Here, we report the case of a 55-year-old woman diagnosed with advanced vulvar cancer with inguinal and pelvic lymph node metastasis. She exhibited cancerous labia, which were entirely covered with ulcerated and exophytic lesions of squamous cell carcinoma, and underwent systemic chemotherapy consisting of combined paclitaxel-cisplatin. After eight cycles of this regimen, the tumors had nearly regressed, and we performed a wide local vulvectomy with a plastic musculocutaneous flap. Pathological examination revealed no residual carcinoma in the excised labia, indicating that the chemotherapy elicited a pathological complete response. The paclitaxel-cisplatin regimen may provide sufficient efficacy for selected patients with stage IVB vulvar cancer. In addition, surgical strategies should be tailored to avoid complications associated with extensive surgery and more emphasis should be placed on the patient's expected quality of life.
PubMed: 38882968
DOI: 10.7759/cureus.60432 -
Case Reports in Urology 2024A 65-year-old man was diagnosed with bladder cancer invading the prostate and penis and multiple bone metastases. He underwent palliative radiation (30 Gy/10 fr)...
Bladder Cancer Invading the Prostate and Penis and Multiple Bone Metastases Showing Significant Improvement after a Short-Term Pembrolizumab Therapy following Radiation and Gemcitabine and Cisplatin Therapy Leading to a Pathologically Complete Remission.
A 65-year-old man was diagnosed with bladder cancer invading the prostate and penis and multiple bone metastases. He underwent palliative radiation (30 Gy/10 fr) through vertebral bones (Th3 and Th12-L5) and pelvic bones for pain control. The patient received pembrolizumab therapy after three courses of gemcitabine and cisplatin therapy. CT four weeks after starting pembrolizumab therapy showed that both the primary and metastatic lesions had notably reduced in size, and no new lesion was detected. He subsequently fell, resulting in a femoral neck pathological fracture, and underwent hemiarthroplasty. Pathological examination of the pathological fracture site revealed no residual tumor tissue.
PubMed: 38882557
DOI: 10.1155/2024/7525757 -
Oncology Letters Aug 2024Gastric-type endocervical adenocarcinoma (GEA) is an uncommon and highly aggressive malignancy, characterized by non-specific clinical manifestations. The limited number...
Gastric-type endocervical adenocarcinoma (GEA) is an uncommon and highly aggressive malignancy, characterized by non-specific clinical manifestations. The limited number of documented cases poses significant challenges in achieving an early preoperative diagnosis. In the present study, two cases of GEA in female patients, aged 46 and 39 years, who presented with the chief complaint of profuse vaginal discharge are described. Both patients underwent a total hysterectomy and bilateral adnexectomy, leading to the definitive diagnosis of GEA through routine pathological and immunohistochemical examination. Following surgery, case one received conventional chemotherapy with paclitaxel and carboplatin, demonstrating no evidence of recurrence during a follow-up period of >2 years. At present, patient B has been followed up for >1 year without any signs of disease recurrence. Given the rarity and diagnostic challenges associated with GEA, further investigations into its pathogenesis and diagnostic modalities are warranted. Additionally, due to its poor prognosis, close surveillance is essential for monitoring potential recurrences. Reporting such cases is crucial in aiding clinicians to make accurate diagnoses and treatment decisions.
PubMed: 38872865
DOI: 10.3892/ol.2024.14477 -
DEN Open Apr 2025Despite endometriosis being a relatively common chronic gynecological condition in women of childbearing age, small bowel endometriosis is rare. Presentations can vary...
Despite endometriosis being a relatively common chronic gynecological condition in women of childbearing age, small bowel endometriosis is rare. Presentations can vary from completely asymptomatic to reported symptoms of abdominal pain, bloating, and diarrhea. The following two cases depict very atypical manifestations of ileal endometriosis that presented as obscure intermittent gastrointestinal bleeding and bowel obstruction requiring surgical intervention. The first case describes a previously healthy 40-year-old woman with severe symptomatic iron deficiency anemia and intermittent melena. A small bowel enteroscopy diagnosed multiple ulcerated strictures in the distal small bowel as the likely culprit. Despite nonsteroidal anti-inflammatory drug-induced enteropathy being initially considered as the likely etiology, histopathological examination of the resected distal ileal segment revealed evidence of endometriosis. The second case describes a 66-year-old with a presumptive diagnosis of Crohn's disease who reported a 10-year history of intermittent perimenstrual abdominal pain, diarrhea, and nausea with vomiting. Following two subsequent episodes of acute bowel obstruction and surgical resection of the patient's stricturing terminal ileal disease, histopathological examination demonstrated active chronic inflammation with endometriosis. Small bowel endometriosis should be considered as an unusual differential diagnosis in women who may present with obscure gastrointestinal bleeding from the small bowel or recurrent bowel obstruction.
PubMed: 38868705
DOI: 10.1002/deo2.395 -
Surgical Case Reports Jun 2024The incidence of sterilisation clip migration is reportedly 25%. However, less than 1% of those who experience clip migration will present with pain, an abscess, or...
BACKGROUND
The incidence of sterilisation clip migration is reportedly 25%. However, less than 1% of those who experience clip migration will present with pain, an abscess, or spontaneous extrusion. Here we present a rare case of sterilisation clip migration through the entire pelvic floor.
CASE PRESENTATION
A 66-year-old female was referred from community to the Surgical Emergency Unit with a possible metallic foreign body under the skin following an attempted routine gluteal cyst excision. The patient first noticed a lump under the skin 2 years ago which gradually became more apparent and tender over the previous 2 months. The patient denied recent trauma, had no co-morbidities and had a sterilisation procedure 24 years prior. Examination revealed a non-mobile solid structure just beneath the skin 5 cm laterally from the anal verge. Inflammatory markers were normal and an ultrasound confirmed a 15 × 7 mm foreign body in the subcutaneous tissues. The foreign body was excised easily under local anaesthesia, revealing a closed Filshie sterilisation clip. The wound was closed primarily, and recovery was uncomplicated.
CONCLUSIONS
This was a case of sterilisation clip migration to the subcutaneous gluteal region. A literature review revealed 34 case reports of sterilisation clip migration, mostly to the bladder. Patients with a previous sterilisation procedure and suspected subcutaneous foreign body without trauma should elicit a high index of suspicion for migrated sterilisation clips. These clips can migrate through multiple layers of muscle and fascia, including the pelvic floor.
PubMed: 38865023
DOI: 10.1186/s40792-024-01937-3 -
Iranian Journal of Pathology 2024The occurrence of rectosigmoid junction inflammatory myofibroblastic tumor (IMT) is uncommon in children. This is a rare form of mesenchymal tumor, belonging to the...
The occurrence of rectosigmoid junction inflammatory myofibroblastic tumor (IMT) is uncommon in children. This is a rare form of mesenchymal tumor, belonging to the category of soft tissue tumors, and can be found at any anatomical site from the central nervous system to the gastrointestinal tract. Our patient was a 10-year-old male subject complaining of lack of defecation and constipation. The patient had decreased the frequency of defecation and constipation about two weeks before his referral and had not improved despite the use of laxatives. The abdomen was completely distended and there was no tenderness or guarding in the examination. Several airfluid levels are shown on the abdominal X-ray. In the ultrasound, free fluid was reported in the interlobular and pelvic spaces. The patient was transferred into the operating room. A tumor of the rectosigmoid junction was detected. Histopathologic studies showed evidence of IMT. IMT is a rare neoplasm of unknown origin, which may occur in various sites of the body. Complete surgical removal is usually curative, but early detection of recurrence is required. Treatment options include chemotherapy, radiation therapy, and immunotherapy. Further investigations are needed to improve the understanding and management of this rare tumor.
PubMed: 38864087
DOI: 10.30699/ijp.2024.2003653.3122 -
Journal of Surgical Case Reports Jun 2024Colorectal cancer typically metastasizes to the peritoneum, liver, and lungs. However, metastases to the fallopian tube and uterus are uncommon. This case report delves...
Colorectal cancer typically metastasizes to the peritoneum, liver, and lungs. However, metastases to the fallopian tube and uterus are uncommon. This case report delves into this rare occurrence of metastasis and discusses its characteristics, diagnostic methods, and treatments based on an extensive literature review. We present the case of a 61-year-old female patient who underwent her initial hospitalization for da Vinci robotic surgery to address colorectal cancer, stage pT3N0M0. However, during routine postoperative follow-up 6 months later, a localized rectal recurrence was detected. The patient commenced chemoradiotherapy with full response. Subsequently, the patient was readmitted due to pelvic pain again, and a magnetic resonance imaging scan revealed an abnormal mass in the patient's left fallopian tube and uterine corpus, infiltrating the myometrium. Consequently, total hysterectomy with bilateral adnexectomy was performed, along with omentectomy, which confirmed metastatic involvement from rectal cancer upon postoperative pathological examination. This case may inform further diagnosis and treatment of colorectal cancer metastasis to the fallopian tube.
PubMed: 38859968
DOI: 10.1093/jscr/rjae400