OpenMed/multicare-articles huggingface dataset:
Androgen Insensitivity Syndrome: A rare genetic disorder
Authors: Sushrut Fulare, Satish Deshmukh, Jyoti Gupta
Journal: Int J Surg Case Rep (2020)
Keywords: androgen insensitivity syndrome, genetic disorder, hormonal substitution therapy, karyotype mapping orchidectomy, psychological counselling
MeSH terms: Case Reports

Background:
Androgen Insensitivity Syndrome (AIS) is a rare X-linked recessive androgen receptor (AR) disorder with 46XY karyotype. Partial AIS affects 5-7 per 1,000,000 genetically male individuals whereas Complete AIS affects 2-5 per 100,000 genetically male individuals. CAIS CAIS is characterized by complete resistance to the action of androgens.
Presentation of case:
17-year patient presented with swelling in bilateral inguinal region. Patient also complained of primary amenorrhea with serum FSH and LH levels being raised, serum testosterone level much above normal range. MRI Pelvis revealed agenesis of vagina, uterine body, both ovaries and cervix. Bilateral testes were noted in bilateral superficial inguinal ring. Bilateral orchidectomy was done and the patient was advised estrogen substitution therapy.
Discussion:
CAIS is usually diagnosed at puberty, when the patient presents with primary amenorrhea. Karyotype has to be mapped in order to differentiate from other genetic disorders. Orchidectomy should be done to avoid risk of malignancy of undescended intra-abdominal testes (3.6 % at 25 years old, and 33 % at 50 years old, reported by various studies). Hormonal substitution therapy should be administered. Comprehensive psychiatric assessment and intervention go a long way in alleviating distress and enhancing quality of life.
Conclusion:
Androgen Insensitivity Syndrome requires expert and sympathetic handling. Close collaboration between surgeon, gynaecologist and psychologist is essential for proper management of complete androgen insensitivity syndrome.
The Impact of Angle Lambda on Patient Satisfaction after Optiflex Trio Trifocal Intraocular Lens Implantation
Authors: Sultan Kaya Ünsal, Ertan Sunay
Journal: J Ophthalmol (2023)

Purpose:
To evaluate the vision-related quality of life (QOL), visual acuities, and refractive outcomes of patients with different angle lambda (λ) after a trifocal intraocular lens (IOL) implantation at Veni Vidi Eye Hospital, İstanbul, Turkey.
Methods:
This retrospective, nonrandomized, and noncomparative case series included patients who had phacoemulsification bilaterally with the implantation of a trifocal IOL (Optiflex Trio) and responded to a vision-related QOL questionnaire measuring patient satisfaction. The patients were divided into two groups according to the angle λ with a cutoff value of 0.5 mm. Evaluations were conducted to examine the monocular visual acuities, spherical equivalents, corneal astigmatism measured 3 months after surgery, and outcomes of the QOL questionnaire in the two groups.
Results:
The study examined 130 eyes from 65 patients aged from 41 to 78 years old. There were no statistically significant differences between the two groups at 3 months after surgery in terms of uncorrected distance visual acuity (UDVA), monocular uncorrected intermediate visual acuity (UIVA), monocular uncorrected near visual acuity (UNVA), spherical equivalent, and corneal astigmatism (P > 0.05). Patients with a greater angle λ had significantly more difficulty going out to see movies, plays, or sporting events (P=0.02), driving at night (P=0.002), and driving in difficult conditions (P < 0.001) than patients with a lower angle λ.
Conclusions:
The Optiflex Trio showed good results in terms of visual acuity at all distances, positive refractive outcomes, and high patient satisfaction in daily life according to the QOL questionnaire. An angle λ greater than 0.5 mm may potentially cause dysphotopsia symptoms, especially during nighttime activities.
Tracheal Diverticulum: A Unique Case with Intraoperative Morphologic Assessment
Authors: Rohini Chennuri, Pavithra Dissanayake, Urjeet A Patel, Gabor Tarjan
Journal: Case Rep Pathol (2015)

There are rare case reports of tracheal diverticula or paratracheal air cysts. These cases, however, were reported mostly as incidental sonographic or radiologic findings without histologic confirmation. Furthermore, the handful of studies that describe this entity histopathologically report only cases in patients with prior respiratory symptoms. Here, we report a rare case of an asymptomatic 60-year-old female with no significant past medical history who presented with primary hyperparathyroidism. She was found to have an incidental right paraesophageal air-filled diverticulum with multiple thin septations on her imaging studies. She was taken to surgery and the histologic examination of the specimen revealed multiloculated cystic cavity lined by respiratory-type columnar epithelium with lymphocytic infiltrate and minor salivary glands within the surrounding stroma, rendering the diagnosis of tracheal diverticula.
Resolution of Abfraction-Associated Gingival Fenestration Utilizing Connective Tissue Grafting
Authors: Braydon Haskell, J Kobi Stern, Jordan Ghiassi, Andrew Kurialacherry, Sadja Gaud-Quintana, Mark E Peacock
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Introduction:
Gingival fenestration (GF) is a distinct clinical entity of uncertain etiology that is seldom documented in the literature. It has been associated mainly with submucosal mechanical irritants such as calculus that subsequently create an opening in the oral soft tissue, usually at facial anterior sites. Surgical correction may be indicated to address functional and/or esthetic concerns.
Case presentation:
The patient, a 74-year-old male, presented to the clinic with a chief complaint of "something is poking through my gum." Clinical exam revealed a gingival fenestration on the facial of tooth #11, associated with what appeared to be a pronounced noncarious cervical lesion (NCCL). Surgical treatment consisted of a connective tissue graft and odontoplasty of the sharp protruding edge of the root surface. Healing was uneventful with excellent closure of the fenestration and no evidence of recurrence after 18 months of follow-up.
Conclusion:
GF is a perforation of the mucosa typically associated with underlying sharp mechanical etiology. This report describes a fenestration that developed from a probable abfractive lesion, which later was successfully closed and exhibits long-term stability.
Humoral Acute Rejection in a Kidney Transplant Recipient with Idiopathic Thrombocytopenic Purpura
Authors: Ana Paola Rico-Portillo, José Ignacio Cerrillos-Gutierrez, Jorge Andrade-Sierra, Alfredo Gutiérrez-Govea, Enrique Rojas-Campos, Claudia Alejandra Mendoza-Cerpa, Benjamín Gómez-Navarro
Journal: Case Rep Transplant (2021)
MeSH terms: Case Reports

A 47-year-old male was diagnosed with chronic kidney disease (CKD) in 2011; idiopathic thrombocytopenic purpura (ITP) was also diagnosed in 2011 refractory to medical treatment and finally treated with splenectomy (2017) without relapses since that date, 5 blood transfusions, and 4 platelet apheresis in 2017. Renal transplant from a living related donor (brother), ABO compatible, crossmatch were negative, sharing 1 haplotype. Donor-specific anti-HLA antibody was negative. Graft function was stable until the 5th day and graft biopsy on the 6th day; thrombotic microangiopathy (TMA), C4D negative and inflammatory infiltration of polymorphonuclear leukocytes inside peritubular capillary, and anti-MICA antibodies were positive. The treatment used were plasmapheresis, intravenous immunoglobulin, and rituximab. Serum creatinine began to decrease since the 14th day, and by day 33, post-RT graft function was restored.
Case Report: Chemotherapy Indication in a Case of Neurofibromatosis Type 1 Presenting Optic Pathway Glioma: A One-Year Clinical Case Study Using Differential Tractography Approach
Authors: Amir Mohammad Pajavand, Guive Sharifi, Amir Anvari, Farahnaz Bidari-Zerehpoosh, Mohammad A Shamsi, Saeedeh Nateghinia, Tohid Emami Meybodi
Journal: Front Hum Neurosci (2021)
Keywords: diffusion tensor imaging, immunohistochemistry, low-grade glioma, neurofibromatosis type 1, optic pathway glioma, short-wavelength automated perimetry, temozolomide, visual field index
MeSH terms: Case Reports

Neurofibromatosis type 1 (NF1) is associated with peripheral and central nervous system tumors. It is noteworthy that the regions in which these tumors frequently arise are the optic pathways (OPs) and the brainstem. Thus, we decided to trace the procedure of diffusion Magnetic Resonance Imaging (dMRI) alterations along with Short-Wavelength Automated Perimetry (SWAP) examinations of the OPs after surgery and chemotherapy over 1 year, which enabled us to evaluate chemotherapy's efficacy in an NF1 patient with an OP tumor. In this study, a 25-year-old woman with NF1 and left optic radiation (OR) glioma underwent surgery to remove the glioma. Immunohistochemistry (IHC) revealed a Pilocytic Astrocytoma (PA) WHO grade I. Post-operation chemotherapy done using nine treatment cycles of administering Temozolomide (TMZ) for 5 days every 4 weeks. Applying the region of interest (ROI) differential tractography method and SWAP four times every 3 months allowed us to follow the patient's visual acuity alterations longitudinally. The differential deterministic tractography method and statistical analyses enabled us to discover the white matter (WM) tracts anisotropy alterations over time. Furthermore, statistical analyses on the SWAP results along time illustrated possible alterations in visual acuity. Then, we could compare and associate the findings with the SWAP examinations and patient symptoms longitudinally. Statistical analyses of SWAP tests revealed a significant improvement in visual fields, and longitudinal differential tractography showed myelination and dense axonal packing in the left OR after 1 year of treatment. In this study, we examined an old hypothesis suggesting that chemotherapy is more effective than radiotherapy for NF1 patients with OP gliomas (OPGs) because of the radiation side effects on the visual field, cognition, and cerebrovascular complications. Our longitudinal clinical case study involving dMRI and SWAP on a single NF1-OPG patient showed that chemotherapy did not suppress the OP myelination over time. However, it should be noted that this is a clinical case study, and, therefore, the generalization of results is limited. Future investigations might focus on genetic-based imaging, particularly in more cases. Further, meta-analyses are recommended for giving a proper Field Of View (FOV) to researchers as a subtle clue regarding precision medicine.
An intractable case of suspected psoriatic arthritis combined with Dupuytren's disease
Authors: Wen Quan Ding, Jian Hui Gu
Journal: Pak J Med Sci (2015)
Keywords: dupuytren's disease, psoriatic arthritis, rheumatoid arthritis
MeSH terms: Case Reports

Some cases of psoriatic arthritis (PsA) cannot be explicitly diagnosed, especially when the skin and nail lesions present years after the joint disease or are absent. Autoimmunity may also play a role in the development of Dupuytren's disease. However, the simultaneous presence of PsA and Dupuytren's disease is very rare. We present a patient displaying arthritis in multiple small joints, with bone erosions and bony fusions in all four extremities, combined with Dupuytren's disease. Because of the atypical clinical manifestation, the diagnosis perplexed doctors for decades. Without formal treatment, the disease followed a natural course over time. Reviewing the patient's data, a potential diagnosis of PsA, combined with Dupuytren's disease, was eventually made. After surgery, contractures of palmar and plantar fascia as well the thumb web were released, and the hallux valgus was corrected.
Leiomyosarcoma of the Right Gonadal Vein: Review of the Approach and Prognostic in a Rare Case
Authors: Noa de la Fuente, Manuel Rodríguez Blanco, Gemma Cerdán, Antonio Moral, Vicenç Artigas
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Background:
Venous leiomyosarcoma is a mesenchymal tumour that represents 5-7% of soft tissue sarcomas. It originates in the smooth muscle cells of the vessel wall and is frequently located in the inferior vena cava. Primary leiomyosarcomas of the gonadal vein are rare, with only 10 cases reported in the literature.
Case report:
We present the case of a 51-year-old woman diagnosed with a right retroperitoneal mass by computed tomography (CT). The differential diagnosis was between a neurogenic tumour and a mesodermic tumour. The tumour was dissected from the vena cava and right ureter by laparoscopy without performing resection en bloc. Histologic examination of the surgical specimen showed a high-grade leiomyosarcoma of the right gonadal vein. The postoperative course was uneventful. Three cycles of chemotherapy with epirubicin-ifosfamide were performed.
Discussion and conclusions:
Venous leiomyosarcoma is an aggressive tumour, and prognosis is poor due to haematogenous spread. No chemotherapy or radiotherapy has yet proven effective in improving survival, and complete surgical excision is currently considered to offer the best chance of cure. Despite the more conservative treatment approach used in the present case, the patient is alive three years after surgery and has a good quality of life. Although it was not used in this patient, the standard procedure for optimal survival is resection en bloc.
Giant esophageal diverticulum with stenosis treated with mediastinoscopic esophagectomy: A case report
Authors: Toshikatsu Tsuji, Hiroshi Saito, Kengo Hayashi, Shinichi Kadoya, Hiroyuki Bando
Journal: Int J Surg Case Rep (2020)
Keywords: esophageal diverticulum, esophageal structural stenosis, false diverticulum, mediastinoscopic esophagectomy
MeSH terms: Case Reports

Introduction:
An esophageal diverticulum is a rare condition, and surgery is indicated if symptomatic. We successfully performed mediastinoscopic esophagectomy for a giant esophageal diverticulum with stenosis.
Presentation of case:
A 63-year-old man visited our hospital because of dysphagia. He had been pointed out an esophageal diverticulum at a local hospital 13 years before visiting our hospital. Upper gastrointestinal endoscopy revealed an esophageal diverticulum at the lower thoracic esophagus and the structural stenosis in the anal side of the diverticulum. Computed tomography showed a 54 mm esophageal diverticulum at the lower thoracic esophagus. Esophagectomy was required because of the structural stenosis. His medical history included chronic obstructive pulmonary disorder. So, we chose the mediastinal approach to avoid a respiratory complication. We performed mediastinoscopic esophagectomy and esophagogastrostomy via the retrosternal route. The postoperative course was good. At 9 months postoperation, there were no symptoms.
Discussion:
Recently, laparoscopic diverticulectomy with myotomy and fundoplication has been considered the best approach in most cases. In the case with the structural stenosis, esophagectomy may be required.
Conclusion:
Mediastinoscopic esophagectomy for the patient with poor respiratory function and who need esophagectomy could be an effective and noninvasive candidate procedure.
Wound healing in a patient with psoriasis vulgaris and femur megaprosthesis implantation
Authors: Markus Nottrott, Jendrik Hardes, Winfried Winkelmann, Georg Gosheger
Journal: Sarcoma (2008)
MeSH terms: Case Reports

Extraskeletal mesenchymal chondrosarcoma is extremely rare and, in combination with psoriasis, it has never been described before. We report a case of wide resection of an extraskeletal chondrosarcoma of the thigh and reconstruction with a femoral megaprosthesis in a patient with psoriasis vulgaris. Special emphasis has been laid to postoperative wound healing in psoriatic skin which did not show any problems.
An unusual cause of vomiting in an infant of 3 months of age
Authors: Kumara Nibhanipudi, Akram Al-Husaini, Samrina Kahlon, Richard K Stone
Journal: Case Rep Emerg Med (2012)
MeSH terms: Case Reports

This is a 3-month-old infant with a diagnosis of acute cholecystitis presenting with projectile vomiting and no fever and no abdominal pain.
Successful treatment of critically ill chronic kidney disease patient with multi-organ dysfunction associated with H1N1 infection
Authors: V B Kute, P R Shah, K R Goplani, A V Vanikar, H L Trivedi
Journal: Indian J Nephrol (2011)
Keywords: ckd, h1n1, multi-organ dysfunction, oseltamivir
MeSH terms: Case Reports

Chronic kidney disease (CKD) patients are at higher risk of H1N1 influenza A infection and associated complications. To our knowledge, this is the first case report of a febrile CKD patient with multi-organ dysfunction and associated H1N1 virus infection successfully treated with oseltamivir, hemodialysis, and mechanical ventilation. Oseltamivir is safe, effective, and well tolerated in our CKD patient.
Case Report: Molecular Diagnosis of Fungal Keratitis Associated With Contact Lenses Caused by Fusarium solani
Authors: Laura Trovato, Antonio Marino, Giovanni Pizzo, Salvatore Oliveri
Journal: Front Med (Lausanne) (2021)
Keywords: fungal keratitis, fusarium solani, pcr, contact lenses, diagnosis
MeSH terms: Case Reports

Fusarium is a filamentous fungus commonly found in the environment and is the major cause of fungal keratitis. We report a case of keratomycosis caused by Fusarium solani in a patient using disposable soft contact lenses. A delay in diagnosis led to the initiation of an empirical antifungal treatment with the subsequent deterioration of the patient's clinical condition. The use of the real-time quantitative PCR assay confirmed keratitis from F. solani providing a result in <48 h and therefore giving the possibility of quickly starting targeted antifungal therapy. The patient had an improvement in eye condition after the diagnosis of keratitis by F. solani and the rapid change to targeted antifungal treatment. For the rapid identification of corneal fungal pathogens, we believe that PCR may be added for the diagnosis of mycotic keratitis pending the isolation in culture that is necessary for in vitro susceptibility testing.
Case report: Dueling etiologies: Longitudinally extensive spinal cord lesion mimicking spinal cord infarct with simultaneous positive Lyme serology and amphiphysin antibody
Authors: Marianna Kalaszi, Eoghan Donlon, Marzuki Wan Ahmad, Abdirahman Sheikh Mohamed, Peter Boers
Journal: Front Neurol (2022)
Keywords: lyme neuroborreliosis, amphiphysin antibody, longitudinally extensive spinal cord lesion, spinal cord infarct, transverse myelitis
MeSH terms: Case Reports

Background:
Longitudinally extensive spinal cord lesions are challenging diagnostic entities as they are uncommon, but various etiologies can cause them.
Case report:
We report a case of a 55-year-old man with a past medical history of hypertension. He is an ex-smoker. He presented with chest pain, followed by right lower limb weakness, preceded by 2 weeks of constipation and voiding dysfunction. The examination revealed right lower limb mild flaccid paresis, absent reflexes, reduced anal tone, and urinary retention. His symptoms deteriorated over 24 h, and he developed severe flaccid paraparesis with impaired pinprick sensation below the T4 level. MRI spine showed an abnormal, non-enhancing signal in the anterior aspect of the spinal cord extending from the T4 level to the conus without associated edema. He was commenced on intravenous steroids and had significant improvement after one dose. The imaging was felt to be consistent with spinal cord infarction, and aspirin was started. The cerebrospinal fluid analysis showed elevated protein (0.8 mg/ml). Investigations for stroke and autoimmune pathologies were negative. The Lyme immunoblot confirmed intrathecal production of IgG to Borrelia antigens. The patient was started on ceftriaxone. The paraneoplastic screen identified amphiphysin antibodies. CT-TAP and PET-CT did not identify occult malignancy. The patient had a significant improvement over 2 months, strength was almost fully recovered, and autonomic functions returned to normal.
Conclusion:
We describe an unusual steroid-responsive, longitudinally extensive spinal cord lesion with radiological features of spinal cord infarct and a simultaneous finding of intrathecal Lyme antibodies and serum amphiphysin antibodies.
Case Report: Combined Intra-Lesional IL-2 and Topical Imiquimod Safely and Effectively Clears Multi-Focal, High Grade Cutaneous Squamous Cell Cancer in a Combined Liver and Kidney Transplant Patient
Authors: Dejan Vidovic, Gordon A Simms, Sylvia Pasternak, Mark Walsh, Kevork Peltekian, John Stein, Lucy K Helyer, Carman A Giacomantonio
Journal: Front Immunol (2021)
Keywords: aldara, cutaneous squamous cell carcinoma (cscc), imiquimod, interleukin-2 (il2), intralesional, intralesional il-2, intralesional immunotherapy, organ transplant recipient
MeSH terms: Antineoplastic Agents / adverse effects, Carcinoma, Squamous Cell / drug therapy, Imiquimod / adverse effects, Immunocompromised Host, Interleukin-2 / adverse effects, Kidney Transplantation, Liver Transplantation, Skin Neoplasms / drug therapy, Transplant Recipients, Case Reports, Review, Administration, Cutaneous, Aged, Antineoplastic Agents / administration & dosage, Carcinoma, Squamous Cell / immunology, Graft Rejection / prevention & control, Humans, Imiquimod / administration & dosage, Immunosuppression Therapy / adverse effects, Infusions, Intralesional, Interleukin-2 / administration & dosage, Male, Neoplasm Recurrence, Local / drug therapy, Skin Neoplasms / immunology, Treatment Outcome, Antineoplastic Agents, Interleukin-2, Imiquimod

Cutaneous squamous cell carcinoma (cSCC) is the second most common non-melanoma skin cancer worldwide, with ever increasing incidence and mortality. While most patients can be treated successfully with surgical excision, cryotherapy, or radiation therapy, there exist a subset of patients with aggressive cSCC who lack adequate therapies. Among these patients are solid organ transplant recipients who due to their immunosuppression, develop cSCC at a dramatically increased rate compared to the normal population. The enhanced ability of the tumor to effectively undergo immune escape in these patients leads to more aggressive tumors with a propensity to recur and metastasize. Herein, we present a case of aggressive, multi-focal cSCC in a double organ transplant recipient to frame our discussion and current understanding of the immunobiology of cSCC. We consider factors that contribute to the significantly increased incidence of cSCC in the context of immunosuppression in this patient population. Finally, we briefly review current literature describing experience with localized therapies for cSCC and present a strong argument and rationale for consideration of an IL-2 based intra-lesional treatment strategy for cSCC, particularly in this immunosuppressed patient population.