OpenMed/multicare-articles huggingface dataset:
Sarcoidosis of the pineal region, dorsal mesencephalon, and periaqueductal region: Case report and systematic review
Authors: Khelifa Adel, Walid Bennabi, Fayçal Aichaoui, Salim Meziani, Abdelhalim Morsli
Journal: Qatar Med J (2021)
Keywords: neurosarcoidosis, pineal region, sarcoidosis

Background:
The central nervous system is an unusual location of sarcoidosis, which commonly affects the cranial nerves, meninges, hypothalamus, and pituitary gland. Involvement of the pineal region is extremely rare. This systematic review focused on the diagnosis and management of pineal region sarcoidosis, dorsal mesencephalon, and periaqueductal region.
Objectives:
This study aimed to discuss diagnostic modalities and best management tools of the aforementioned pathology.
Methods:
ScienceDirect, PubMed, and Google Scholar databases were searched for English or French articles about sarcoidosis of the pineal region, dorsal mesencephalon, and periaqueductal region. The clinical case of a patient managed at our department that we believe is directly relevant to this review is also presented. Patients' demographics, clinical presentations, presence of hydrocephalus, other sarcoidosis locations in the central nervous system, and medical treatment were collected. Surgical management, surgical approach, and outcomes and complications of each procedure were also obtained. This study was conducted in agreement with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement.
Results:
Fifteen cases were examined. The study sample consisted of nine (60%) male and six (40%) female, and the mean age was 32 years. Eight (53%) patients had hydrocephalus, and the predominant clinical presentations were signs of increasing intracranial pressure (headaches, vomiting, and papilledema). Six (40%) patients had diplopia, and convergence-retraction nystagmus was noted in three (20%) patients. Argyll Robertson sign was present in one patient and suspected in another patient (13%). Medical treatment consisted mainly of steroids (93% of cases). Open surgery on the pineal region was performed in five patients, and four of them reported to have serious complications (such as ophthalmoplegia, hemianopsia, hemiparesis, bilateral third cranial nerve paresis, and cerebellar syndrome). Endoscopic management was performed in two patients without complications.
Conclusion:
To treat hydrocephalus, brain imaging is mandatory in patients with sarcoidosis if intracranial hypertension is suspected. In pineal region sarcoidosis, management of hydrocephalus is the priority, followed by medical treatment of the lesion. Open surgery of any approach presents a high risk of complications; thus, an endoscopic approach is the preferred management, as it treats hydrocephalus and makes biopsy possible with minimal risk.
Incarcerated Uterus Presenting as Short Cervix and Placenta Previa
Authors: Ali Alhousseini, Salam Zeineddine, Adham Alsamsam, Bernard Gonik, Jacques Abramowicz, Karoline Puder, Homam Saker, Edgar Hernandez-Andrade
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Introduction:
Incarcerated uterus is a rare complication of pregnancy, usually associated with retroversion.
Case:
A 26-year-old woman presents at 19 4/7 weeks for evaluation of a short cervix and placenta previa. On ultrasound scan, the placenta was considered previa and the cervix was not visualized. The cervix was not identified by pelvic examination and the presumptive diagnosis of short cervix was done. The patient was followed up closely and remained asymptomatic. Retrospective analysis of the ultrasound images showed a retroverted uterus with an elongated cervix compressed towards the anterior vaginal wall. At 26 weeks of gestation, ultrasound showed a cervical length of 41 mm and a fundal placenta and the diagnosis of spontaneous correction of an incarcerated uterus was made. The patient had an uncomplicated vaginal delivery at 39 3/7 weeks.
Comment:
Identification and close follow-up of incarcerated uterus may potentially help in avoiding serious obstetrical and surgical complications.
Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies
Authors: Mathieu Marty, Carole Bonnaud, Natalie Jones, Michel Longy, Frédéric Vaysse, Eric Bieth, Isabelle Bailleul-Forestier
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Background:
Megalencephaly-capillary malformation (MCAP) is a rare overgrowth syndrome caused by postzygotic activating mutations in the PIK3CA gene.
Aim:
To illustrate the benefits of gingival biopsy in the genetic diagnosis of overgrowth syndromes.
Design:
Gingival biopsy was performed on a 13-year-old patient and a 16-year-old patient with MCAP and who suffered from periodontal disease. PIK3CA sequencing was performed on DNA extracted from gingival biopsies, blood, and saliva.
Results:
Pathogenic p.Glu365Lys and p.Glu545Asp PIK3CA mutations were found in the gingival biopsies with an allelic frequency of 22% and 35%, respectively, while they were undetectable in blood or saliva. The genetic diagnosis of MCAP through detection of PIK3CA somatic mosaicism in a periodontal biopsy is unprecedented.
Conclusions:
Considering the tissue distribution and level of somatic mosaicism for PIK3CA mutation, the composite embryologic origin of periodontium and its high fibroblast cell content make it an ideal target for molecular analysis in overgrowth syndromes, and multidisciplinary approach including paediatric dentists should be encouraged. In addition, our clinical findings suggest that periodontal disease is part of the MCAP phenotypic spectrum and should be systematically investigated.
Disseminated Intravascular Coagulopathy following Induced Second Trimester Curettage Abortion
Authors: Paulami Guha
Journal: ISRN Obstet Gynecol (2011)
MeSH terms: Case Reports

Background. This is a case of 18-year-old adolescent girl admitted with profuse vaginal bleeding following induced second trimester curettage abortion at 13 weeks of gestation. Case. Her transvaginal sonogram detected retained products of conceptus, and her blood reports revealed a full blown picture of DIC. Dilatation and evacuation was done after initial resuscitation with packed RBCs and platelet concentrates. She had an uneventful recovery period. Conclusion. DIC is an extremely life-threatening condition which can occur as a very infrequent complication of second trimester abortion.
Case report: Prompt response to radiotherapy and chemotherapy combined with crizotinib in gingival sarcomatoid squamous cell carcinoma with MET 14 mutation
Authors: Zhenhua Sun, Bingjie Xia, Ming Zhang, Shuai Xu, Yingqian Ma, Xianbo Zhang
Journal: Front Oncol (2022)
Keywords: met, chemotherapy, crizotinib, gingival carcinoma, radiotherapy
MeSH terms: Case Reports

Background:
As a kind of squamous cell carcinoma of head and neck (HNSCC), gingival sarcomatoid squamous cell carcinoma (GSSCC) is a rare biphasic malignant neoplasm. To date, surgical resection was often utilized for gingival squamous cell carcinoma (GSCC), while for patients with advanced gingival carcinoma who cannot tolerate surgery, radiotherapy and chemotherapy can be regarded as a treatment strategy. Many molecular-targeted drugs were investigated and approved for the treatment of malignant diseases, including hematologic diseases and solid tumors. Although targeted therapies such as EGFR inhibitors have shown therapeutic efficacy in HNSCC, there are still some patients who cannot benefit from it. New therapeutic targets and strategies should be further explored.
Case presentation:
An 83-year-old woman was referred to our hospital with left lower gingival mass for more than 1 month in June 2021. Pathologic diagnosis is sarcomatoid squamous cell carcinoma. Due to the large tumor at the time of diagnosis and poor quality of life, the patient was intolerant to surgery, so she was given radiotherapy (RT) combined with concurrent chemotherapy (CT) with albumin bound paclitaxel. According to next-generation sequencing (NGS) results (MET exon 14 skipping mutation-positive), she was treated with crizotinib, a tyrosine kinase inhibitor that targets MET. Through the comprehensive treatment, the patient's condition promptly improved, clinical complete remission (CR) was achieved in 2 months, and 9-month progression-free survival (PFS) was obtained. She finally died from non-cancer-related diseases.
Conclusion:
Here we report the treatment of a GSSCC patient with MET mutation, who responded to crizotinib promptly and positively. It provides a new reference for understanding MET abnormalities in GSSCC and offers a new idea for the targeted treatment of gingival carcinoma.
Bilateral Anterior and Intermediate Uveitis with Occlusive Vasculitis as Sole Manifestation of Relapse in Multiple Sclerosis
Authors: Angelica Pedraza-Concha, Karin Brandauer, Alejandro Tello, Carlos Mario Rangel, Christian Scheib
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

76-year-old female patient, with past medical history of relapsing-remitting multiple sclerosis manifested by retrobulbar optic neuritis in both eyes with an interval of one year between the first episode in the left eye and the one in the right eye and after three decades of remission, who consulted due to bilateral blurred and foggy vision. Subsequently, several differential diagnoses where ruled out. Diagnosis of bilateral anterior and intermediate uveitis with occlusive vasculitis attributed to a new relapse episode of multiple sclerosis was made, as the association between multiple sclerosis and intermediate uveitis is known, though the causal association is still questioned. This case shows how multiple sclerosis may only manifest with ocular involvement and exemplifies the broad spectrum of manifestations and complications, taking into account that ischemic areas from vasculitis and other comorbidities led to macular edema and unfortunately, prognosis became poorer. The complex course of the case enables emphasizing the responsibility role of the ophthalmologists in such systemic entities that may compromise the eye, in which suspicion of the disease and an adequate timing management approach is essential.
Management of an acute thermal injury with subatmospheric pressure
Authors: Joseph A Molnar, Jordan L Simpson, Denise M Voignier, Michael J Morykwas, Louis C Argenta
Journal: J Burns Wounds (2005)
MeSH terms: Case Reports

Objective:
This article reports the first application of subatmospheric pressure management to a deep, partial-thickness human thermal burn.
Methods:
After cleaning the wound, the decision was made to treat the hand and distal forearm with subatmospheric pressure (V.A.C., KCI, Inc, San Antonio, Tex). The sponge was applied directly to the burned skin without additional interface at approximately 6 hours after injury. The dressing was maintained at a continuous negative pressure of 125 mm Hg over the next 40 hours, with interruption only for routine clinical evaluation at 5, 16, and 24 hours after initiation of treatment. This was accomplished by opening the dressing without completely changing it. The treatment was tolerated well by the patient, requiring no excessive pain medication. After the subatmospheric pressure treatment was stopped, the wound appeared to be of indeterminate depth and the patient was started on twice daily applications of silver sulfadiazine.
Results:
The clinical impression at this time was that the hand burn had not progressed but had stabilized and had minimal edema. He was followed as an outpatient and returned to work by 8 weeks. At approximately 4 weeks postinjury, his skin not only was functional but also appeared more normal, with less hyperemia than adjacent areas treated with topical antibacterials.
Conclusion:
The present case does not prove that subatmospheric pressure treatment prevents burn wound progression. However, when combined with the previously reported laboratory studies it suggests the need for further research. Currently, a prospective, randomized, blinded, controlled multicenter trial is underway to evaluate the clinical importance of these observations.
Rotationplasty for Unplanned Fixation of Pathological Fracture Distal Femoral Osteosarcoma
Authors: Chindanai Hongsaprabhas, Wittavat Chenboonthai, Phoomchai Suvaraksakul, Chris Charoenlap
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Introduction:
Rotationplasty had been reported as a salvage procedure for many decades. However, this procedure has not been used for unplanned fixation for pathological fracture of osteosarcoma. Therefore, this is the first case report of rotationplasty for this particular indication. Case Presentation. We report a case of a 22-year-old Thai female patient who sustained a supracondylar fracture at the distal femur and underwent a surgical treatment by open reduction and internal fixation with a distal femoral locking plate and screws. Follow-up radiographic imaging revealed that there were abnormal osteolytic lesions, and conventional high-grade osteosarcoma was diagnosed by a pathological study. There were no distant metastases from Computed Tomography (CT) scan or Technitium-99m bone scintography. After discussing with the patient for treatment options, rotationplasty was chosen for her definitive treatment after 3 courses of neoadjuvant chemotherapy. All of the contaminated tissues were removed during the surgery. The neurovascular bundles were preserved. A standard rotationplasty type A-1 according to the Winkelmann Classification was performed. Postoperative imaging showed satisfactory outcomes, and the wound healed uneventfully. The patient was able to move her ankle as a knee, and external prosthetic fitting was made. Adjuvant chemotherapy was given after a free margin with good tumor necrosis which was achieved as shown in the pathological study. At the patient's 3-year follow-up visit, she has stable size of lung nodules. She can walk with external prosthesis, limping slightly. Her new knee could move as expected, and she was satisfied with the result of the treatment.
Conclusion:
Rotationplasty for unplanned fixation of pathological fracture is a complex procedure. Patients often do not select this type of treatment because of the cosmetic acceptance even though it yields a good functional result. Therefore, awareness of the pathological fracture should initially be taken into account to prevent inappropriate fixation which could result in an unnecessary amputation.
Case Report: Hemispherotomy in the First Days of Life to Treat Drug-Resistant Lesional Epilepsy
Authors: Konstantin L Makridis, Christine Prager, Anna Tietze, Deniz A Atalay, Sebastian Triller, Christian E Elger, Ulrich-Wilhelm Thomale, Angela M Kaindl
Journal: Front Neurol (2021)
Keywords: eeg, drug-resistant epilepsy, epilepsy, epilepsy surgery, hemispherotomy, infant, pediatrics
MeSH terms: Case Reports

Background: Neonatal drug-resistant epilepsy is often caused by perinatal epileptogenic insults such as stroke, ischemia, hemorrhage, and/or genetic defects. Rapid seizure control is particularly important for cognitive development. Since early surgical intervention and thus a short duration of epilepsy should lead to an optimal developmental outcome, we present our experience with hemispherotomy in an infant at the corrected age of 1 week. Methods: We report successful hemispherotomy for drug-resistant epilepsy in an infant with hemimegalencephaly at a corrected age of 1 week. Results: The infant was diagnosed with drug-resistant lesional epilepsy due to hemimegalencephaly affecting the left hemisphere. Given congruent electroclinical findings, we performed a left vertical parasagittal transventricular hemispherotomy after critical interdisciplinary discussion. No complications occurred during the surgery. Intraoperatively; 118 ml of red blood cells (30 ml/kg) and 80 ml of plasma were transfused. The patient has been seizure-free since discharge without further neurological deficits. Conclusion: We demonstrate that early epilepsy surgery is a safe procedure in very young infants if performed in a specialized center experienced with age-specific surgical conditions and perioperative management. The specific surgical difficulties should be weighed against the risk of life-long developmental drawbacks of ongoing detrimental epilepsy.
Colorectal Intussusception with an Invasive Adenocarcinoma as Lead Point
Authors: Stijn Marcelis, Erik Van Hul
Journal: J Belg Soc Radiol (2021)
Keywords: abdomen, adenocarcinoma, bowel, colorectal, intussusception, invagination
MeSH terms: Case Reports

Teaching Point: Always look for an underlying (malignant) lead point as cause of a large bowel intussusception in adults.
Serous Papillary Adenocarcinoma of Unknown Primary in a Recurrent Paravaginal Cyst
Authors: Khilen Patel, Advaita Punjala-Patel, Angela Stephens, John Lue
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Cystic lesions located in the paravaginal region are rare. When present, paravaginal cysts are typically benign and are incidentally found on routine gynecological exams; however, rarely they can be malignant. Treatment options for paravaginal cancers are not well studied and early diagnosis may help improve prognosis in these patients. Our case describes a 55-year-old female with a recurrent paravaginal cyst that was remarkable for serous papillary adenocarcinoma despite biopsy and fluid cytology negative for malignancy. This case demonstrates that malignancy should be considered highly with a recurrent paravaginal cyst, especially when present over a short interval.
One 6-F Guiding Catheter and One Microcatheter to Accomplish a Retrograde Chronic Total Occlusion Approach: The "Reverse Tip-In" or "Introspect" Technique
Authors: Ata Firouzi, Zahra Hosseini, Ehsan Khalilipur
Journal: Case Rep Cardiol (2022)
MeSH terms: Case Reports

The retrograde approach has significantly increased the overall success rate of chronic total occlusion (CTO) percutaneous coronary intervention (PCI), up to 90% in the hands of experienced CTO operators. The "tip-in" technique involves inserting an antegrade microcatheter over the retrograde guidewire, allowing for antegrade intervention on the CTO segment. Through the presentation of the following case, we want to illustrate how to undertake a retrograde approach to bridge the occluded segment via the "reverse tip-in" or "introspect" technique, using a single guiding catheter with one microcatheter inside.
Feasibility of transapical aortic valve replacement through a left ventricular apical diverticulum
Authors: Enrico Ferrari, Mathieu Van Steenberghe, Jegaruban Namasivayam, Denis Berdajs, Lars Niclauss, Ludwig Karl von Segesser
Journal: J Cardiothorac Surg (2013)
MeSH terms: Aortic Valve / surgery, Diverticulum / surgery, Heart Valve Prosthesis Implantation / methods, Heart Valve Prosthesis, Heart Ventricles / surgery, Ventricular Dysfunction, Left / surgery, Case Reports, Aged, 80 and over, Aortic Valve Stenosis / surgery, Female, Humans

Transapical aortic valve replacement is an established technique performed in high-risk patients with symptomatic aortic valve stenosis and vascular disease contraindicating trans-vascular and trans-aortic procedures. The presence of a left ventricular apical diverticulum is a rare event and the treatment depends on dimensions and estimated risk of embolisation, rupture, or onset of ventricular arrhythmias. The diagnosis is based on standard cardiac imaging and symptoms are very rare. In this case report we illustrate our experience with a 81 years old female patient suffering from symptomatic aortic valve stenosis, respiratory disease, chronic renal failure and severe peripheral vascular disease (logistic euroscore: 42%), who successfully underwent a transapical 23 mm balloon-expandable stent-valve implantation through an apical diverticulum of the left ventricle. Intra-luminal thrombi were absent and during the same procedure were able to treat the valve disease and to successfully exclude the apical diverticulum without complications and through a mini thoracotomy. To the best of our knowledge, this is the first time that a transapical procedure is successfully performed through an apical diverticulum.
Look at This Swelling: Retroauricular Mass as Atypical Progression in Long-Survivor Endometrial Endometrioid Adenocarcinoma
Authors: Marco De Felice, Elena Tammaro, Mariagrazia Tammaro, Giacinto Turitto, Rodolfo Cangiano
Journal: Cureus (2023)
Keywords: adjuvant radiation therapy, atypical pattern of progression, endometrioid endometrial carcinoma, long-term clinical outcomes, retroauricular mass
MeSH terms: Case Reports

Endometrial endometrioid adenocarcinoma is the most common histology in gynecological malignancies. Most women present loco-regional relapsing or peritoneal and liver involvement within three years from diagnosis. However long-survivor patients may be affected by atypical disease evolutions. Here we describe an extremely rare case of retroauricular metastasis in a patient affected by endometrial endometrioid adenocarcinoma, who had a total abdominal hysterectomy and bilateral salpingo-oophorectomy six years earlier and subsequent salvage surgery three years later for loco-regional relapsed disease.
Immunomodulation in the Treatment of Refractory Catastrophic Antiphospholipid Syndrome
Authors: Karthik Nath, Andrew McCann
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Catastrophic antiphospholipid syndrome is a rare condition with high morbidity and mortality. We present a refractory case of catastrophic antiphospholipid syndrome with a view to highlight the importance of early identification and aggressive treatment of this condition. A 36-year-old female presented with clinical manifestations of multiorgan vascular occlusion with a known history of primary antiphospholipid syndrome. The presentation was on a background of a recent change of her long-term anticoagulation from warfarin to therapeutic low-molecular-weight heparin. Given that multiorgan involvement with 3 organ systems occurred nearly simultaneously, a diagnosis of probable catastrophic antiphospholipid syndrome was made. Prompt therapeutic anticoagulation, antiplatelet, and glucocorticoid therapy was commenced. Despite this, the patient continued to demonstrate clinical features concerning for ongoing small vessel occlusion necessitating aggressive immunomodulatory therapy in the form of intravenous immunoglobulin, plasma exchange, and rituximab.
Persistent vs Recurrent Cushing's Disease Diagnosed Four Weeks Postpartum
Authors: Leena Shah, Emily V Nosova, Joshua B Bederson, Khadeen Christi Cheesman
Journal: Case Rep Endocrinol (2022)
MeSH terms: Case Reports

Background:
Cushing's disease (CD) recurrence in pregnancy is thought to be associated with estradiol fluctuations during gestation. CD recurrence in the immediate postpartum period in a patient with a documented dormant disease during pregnancy has never been reported. Case Report. A 30-year-old woman with CD had improvement of her symptoms after transsphenoidal resection (TSA) of her pituitary lesion. She conceived unexpectedly 3 months postsurgery and had no symptoms or biochemical evidence of recurrence during pregnancy. After delivering a healthy boy, she developed CD 4 weeks postpartum and underwent a repeat TSA. Despite repeat TSA, she continued to have elevated cortisol levels that were not well controlled with medical management. She eventually had a bilateral adrenalectomy. Discussion. CD recurrence may be higher in the peripartum period, but the link between pregnancy and CD recurrence and/or persistence is not well studied. Potential mechanisms of CD recurrence in the postpartum period are discussed below.
Conclusion:
We describe the first report of recurrent CD that was quiescent during pregnancy and diagnosed in the immediate postpartum period. Understanding the risk and mechanisms of CD recurrence in pregnancy allows us to counsel these otherwise healthy, reproductive-age women in the context of additional family planning.