OpenMed/multicare-articles huggingface dataset:
Folie a famille
Authors: Ashish Srivastava, H A Borkar
Journal: Indian J Psychiatry (2010)
Keywords: folie a famille, folie imposee, paranoid schizophrenia, shared psychotic disorder

Shared psychotic disorder is often read as case report but not studied in length and rarely looked at in common clinical practice in psychiatry. Only a small percentage of cases involve families. Folie a famille is characterized as a shared psychotic disorder within a family in more than two members. The involved patients have an unusually close relationship and are isolated from others. We describe here a case of folie a famille involving a nuclear family consisting of the husband, the wife, and their three children. The primary patient was suffering from paranoid schizophrenia with prominent delusions of persecution that were imposed upon and later shared by his family. Temporary separation decreased the intensity of shared delusions in the other family members.
Multiple Splenic Artery Aneurysms: A Case Report and Review of the Literature
Authors: Wen Chun Chen, Tie Hao Wang, Ding Yuan, Ji Chun Zhao
Journal: Front Surg (2022)
Keywords: aneurysmectomy, endovascular embolization, leukopenia, splenectomy, splenic artery aneurysms, thrombocytopenia
MeSH terms: Case Reports

Background: Multiple splenic artery aneurysms (MSAAs) are rare and there are few reports about their treatment. We herein present a rare case of MSAAs treated with splenectomy combined with endovascular embolization. Methods: A 51-year-old female patient was incidentally diagnosed with MSAAs. Splenectomy combined with endovascular embolization was the chosen treatment. Outcomes: The patient recovered uneventfully and was discharged from the hospital 5 days after splenectomy. The patient has been doing well during the 27-months of follow-up. Conclusion: Combined with the experience of the previous literature, we think splenectomy combined with endovascular embolization is a safe, reliable and minimally invasive treatment for some selected multiple SAAs, depending on several patient parameters, such as the age, sex, aneurysm dimension, aneurysm location, complications, and severity of the clinical findings.
Metastasis of Malignant Melanoma to Urinary Bladder: A Case Report and Review of the Literature
Authors: Rashna Meunier, Gyan Pareek, Ali Amin
Journal: Case Rep Pathol (2015)

Aims. Metastatic malignant melanoma of the urinary bladder is a rare clinical entity, with only twenty-three published cases to date. We present a case of this rare entity, a thorough review of the literature, and differential diagnosis of melanoma in the bladder. Methods and Results. A 55-year-old woman with a history of malignant melanoma of the right thigh, excised eight years ago, presented with back pain, fatigue, and hematuria. She underwent computed tomography (CT) scan and was found to have metastases within the liver, spleen, lungs, and urinary bladder. She underwent cystoscopy and transurethral resection of three polypoid lesions. Histologic and immunohistochemical examination revealed metastatic malignant melanoma involving bladder mucosa. Conclusions. This case illustrates the importance of including malignant melanoma in the differential diagnosis of high grade neoplasms of bladder, especially in cases where the relevant clinical history is not available.
Segmental Testicular Infarction, an Underdiagnosed Entity: Case Report with Histopathologic Correlation and Review of the Diagnostic Features
Authors: Sahar Shiraj, Nisha Ramani, Andrij R Wojtowycz
Journal: Case Rep Radiol (2016)

A 30-year-old male presented with a 1-day history of left scrotal pain and a tender left testicle and epididymis on physical exam. Scrotal ultrasound showed an avascular, heterogeneous, hypoechoic lesion in the superior left testis suggestive of infarction or neoplasm. The patient was managed conservatively; however, his pain continued and follow-up ultrasound 6 days later showed interval increase in the size of the mass. Left radical orchiectomy was done and pathology result showed segmental infarction of the left testis.
Colchicine plus Dapsone in Colchicine-Resistant FMF Patients
Authors: Farhad Salehzadeh, A Enteshary, M Moshkbar
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

Five to ten percent of FMF patients have unfavorable response to the colchicine as a standard therapy. Biologic treatments have been shown to be highly effective, but there are often unavailable, because the price is unaffordably high. This study shows the striking effect of combined dapsone and colchicine therapy in such patients and recommends it as an alternative therapy in colchicine-resistant (CR) patients.
Intestinal obstruction due to phytobezoar induced in the Meckel's diverticulum-report of two cases
Authors: Necattin Firat, Baris Mantoglu, Fatih Altintoprak, Ali Muhtaroglu, Mertcan Akcay
Journal: North Clin Istanb (2022)
Keywords: intestinal obstruction, meckel’s diverticulum, mechanical ileus, phytobezoar
MeSH terms: Case Reports

Meckel's diverticulum is generally asymptomatic, but it may become symptomatic due to various reasons and maybe the etiology of the acute abdominal syndrome. Bezoars are formed by the combination of non-digestible substances in the gastrointestinal tract, and which are among the rare causes of intestinal obstruction. The formation of bezoars in Meckel's diverticulum and subsequent intestinal obstruction is a rare condition. In this article, two cases with intestinal obstruction due to bezoar in Meckel's diverticulum and their surgical treatment had presented.
Passenger Lymphocyte Syndrome and Autoimmune Hypothyroidism Following Hematopoietic Stem Cell Transplantation
Authors: Denis F Noubouossie, Mohammed I A Zaanona, Luciano J Costa, Huy P Pham, Marisa B Marques, Antonio Di Stasi
Journal: Case Reports Immunol (2022)
MeSH terms: Case Reports

We present the case of a 24-year-old male, who received a minor ABO-incompatible allogeneic hematopoietic stem cell transplant (HSCT, blood group O+ ⟶ A+) from an HLA-matched unrelated female donor, as consolidation therapy for relapsed precursor-B-cell acute lymphoblastic leukemia. The donor had a known history of Hashimoto's thyroiditis before HSCT. At day +10 posttransplant, the patient developed severe hemolysis, which required emergent red blood cell exchange. Additionally, about a year posttransplant, he had circulating antithyroglobulin antibodies, decreased free-T4 (fT4) and increased serum thyroid-stimulating hormone (TSH). The potential causes of the posttransplant hemolytic episode and hypothyroidism are discussed. While the hemolysis was worsened by the transfusion of A red blood cells (RBCs) in the context of passenger lymphocyte syndrome, the thyroid dysfunction might be explained by an autoimmune disease transferred from the donor. The case highlights the possibility of several non-relapse-related complications of HSCT occurring in the same patient. It is critical that such adverse outcomes are distinguished from classical graft-versus-host disease (GVHD) for adequate recipient counseling, posttransplant screening, and prompt treatment.
Eye Comfort and Physiological Reconstruction of an Entire Upper Eyelid Defect
Authors: Yasuhiro Sakata, Katsuya Okuda, Yoshitaka Wada, Shinji Kumegawa, Hirohisa Kusuhara, Noritaka Isogai, Shinichi Asamura
Journal: Eplasty (2020)
Keywords: merkel cell carcinoma, forearm flap, free flap, reconstruction, upper eyelid
MeSH terms: Case Reports

Objective:
Reconstruction of an extensive full-thickness upper eyelid defect is challenging. The purpose of this report is to introduce this procedure with emphasis on reconstruction of the eyelid margin to obtain eye comfort.
Methods:
We designed a technique using a radial forearm flap for the outer layer to reconstruct the entire eyelid after resection of Merkel cell carcinoma. In additional, the inner layer and the eyelid margin were reconstructed with a buccal mucosal graft and a reverse Hughes flap.
Results:
There has been no recurrence of the tumor, opening and closing functions of the eyelid are maintained, and the patient has not complained of eye discomfort.
Conclusion:
Maintenance of mobility, flexibility, and a good ocular surface in contact with the sensitive cornea are the main foci of upper eyelid reconstruction, with an optimal fissure height and an appropriate contour of the eyelid. In addition, to obtain eye comfort, it is important to protect the cornea without significantly restricting eyelid mobility.
Case Report: Multi-Orifices Vertebral Arteriovenous Fistula With Severe Scoliosis in Neurofibromatosis Type 1: Might Be a Congenital Disease With Mesodermal Dysplasia
Authors: Yingjin Wang, Changwei Yuan, Shengli Shen, Yang Zhang, Jiayong Zhang, Hongzhou Duan
Journal: Front Neurol (2021)
Keywords: arteriovenous fistula, embolization treatment, multiple orifices, neurofibromatosis (nf1), scoliosis
MeSH terms: Case Reports

Background: Vertebral arteriovenous fistula (AVF) associated with neurofibromatosis type 1 (NF-1) is a rare condition in the previous reports. However, whether vertebral AVF in NF-1 is congenital or NF-1 disease progression hasn't been clarified. Case Description: We reported a 48-year-old male case of vertebral AVF simultaneously combined with thoracic scoliosis and NF-1. Preoperative CT angiography showed the AVF with multiple orifices located on the vessel wall of the vertebral artery, which was proved during the procedure of endovascular treatment. By occluding the parent vertebral artery, the AVF was finally cured. Further whole-exome sequencing identified a novel germline heterozygous point nonsense mutation, c.G397T(p.E133X), in the NF1(NM_000267) gene exon4. Conclusions: From this patient, we speculate that vertebral AVF associated with NF-1 might be a congenital disease as a manifestation of mesodermal dysplasia.
Treating Penile Cancer in the Immunotherapy and Targeted Therapy Era
Authors: Gavin Hui, Sanaz N Ghafouri, John Shen, Sandy Liu, Alexandra Drakaki
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

While localized penile cancers are typically treated surgically and metastatic penile cancers benefit from standard chemotherapy, there have been studies on the horizon demonstrating immunotherapy as a novel approach to metastatic penile cancers that have failed standard chemotherapy. We report a case series of two patients who improved on immunotherapy after progressing with standard chemotherapy regimens. The first case describes a 64-year-old male with a penile mass and significant lymphadenopathy who had surgical resection and adjuvant chemotherapy prior to continued disease progression. He was started on anti-EGFR treatment and improved initially, but he eventually had progression of disease. The second case describes a 79-year-old male with a penile mass who was treated with surgical resection and started on adjuvant chemoradiation, but he developed recurrence and nodal involvement. Therefore, second-line therapy of the PD-L1 inhibitor was started in this patient. There were no available clinical trials for penile cancer patients who progressed beyond the standard surgical therapy and chemotherapy.
Combining Techniques to Treat Isolated Deep Recession-Type Defects: A Case Report with Long-Term Stability
Authors: João Carnio, Anna Tereza Carnio
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Introduction:
The purpose of this case report was to show the clinical long-term stability of a successful two-step root coverage procedure. A combination of two single techniques was used to treat an isolated deep-wide defect. Case Presentation. A 28-year-old female patient was referred in order to treat a single recession defect at #22. Due to her fear of dental procedures and a poor economic situation, the team developed an alternative solution. They used a modified apically repositioned flap (MARF) to increase the donor area and then a laterally positioned flap (LPF) to treat the root defect. Clinical evaluation at the three-year follow-up revealed complete resolution of the defect, a gain in clinical attachment, excellent esthetic results, and minor morbidity to the patient.
Conclusion:
The combination of the MARF and the LPF procedures was able to successfully treat a single deep recession defect with some advantages over traditional techniques such as simplicity, ideal color match of tissues, and the absence of palatal donor tissue.
Successful Salvage Radiotherapy for a Chemo-refractory, Non-resectable, Undifferentiated Pleomorphic Sarcoma Lung Metastasis with Pericardial Involvement: A Case Report
Authors: Thuraya Al-Hajri, Jessica Chan, Jean-Michel Caudrelier
Journal: Cureus (2016)
Keywords: imrt, lung mets, pericardial, sarcoma
MeSH terms: Case Reports

We report a case of an undifferentiated pleomorphic sarcoma in a 73-year-old female, with a solitary lung metastasis involving the pericardium that progressed on first-line chemotherapy. Partial removal of the lesion was achieved after lingular segmentectomy, which required en-bloc pericardial resection due to deep pericardial invasion. However, the residual disease significantly grew despite second-line chemotherapy, and the tumor became unresectable due to near encasement of the left anterior descending coronary artery. Therefore, we opted for a salvage radical dose of intensity-modulated radiotherapy (60Gy in 25 fractions) to the pericardial lesion. No acute side effects were observed, and after three years of follow-up, good local control has been achieved with no significant late effects observed. This case suggests that radical radiotherapy using IMRT could be considered to treat sarcomatous pericardial lesions in patients who do not respond to chemotherapy and who are inoperable or non-resectable.
CA19-9-producing lung metastasis after surgery for papillary thyroid carcinoma: report of a case
Authors: Emi Yamaguchi, Yoshinari Makino, Takashi Sato, Masaaki Uchida, Yuji Harada, Riruke Maruyama
Journal: Surg Today (2014)
MeSH terms: CA-19-9 Antigen / biosynthesis, Carcinoma, Papillary / diagnosis, Carcinoma, Papillary / secondary, Lung Neoplasms / diagnosis, Lung Neoplasms / secondary, Thyroid Neoplasms / pathology, Thyroid Neoplasms / surgery, Case Reports, Biomarkers, Tumor / analysis, Biomarkers, Tumor / blood, CA-19-9 Antigen / analysis, CA-19-9 Antigen / blood, Carcinoma, Papillary / metabolism, Fatal Outcome, Female, Humans, Iodine Radioisotopes / therapeutic use, Lung Neoplasms / metabolism, Lymph Node Excision, Lymphatic Metastasis, Mediastinum, Middle Aged, Radiopharmaceuticals / therapeutic use, Thyroidectomy, Biomarkers, Tumor, CA-19-9 Antigen, Iodine Radioisotopes, Radiopharmaceuticals

Measuring tumor marker levels following cancer treatment can be useful. Although serum thyroglobulin is a useful marker after total thyroidectomy for papillary thyroid carcinoma (PTC), it is not a reliable marker for patients with a high titer of anti-thyroglobulin antibodies or when transformation to undifferentiated carcinoma has occurred. The female patient in this case report underwent total thyroidectomy and oral I-131 therapy for PTC at the age of 47 years, followed by cervical lymph node and lung resections for metastases, 3 and 11 years later, respectively. She also received oral I-131 therapy and external beam radiotherapy for mediastinal lymph node metastases. The lymphadenopathy lesions progressed and multiple lung metastases were detected when she was 61 years of age. She died at the age of 62 years. The serum CA19-9 level had gradually increased in association with enlargement of the recurrent lesions and immunostaining of CA19-9 in the pulmonary metastasis was intense. Thus, we consider that measuring the level of serum CA19-9 is an effective tool for evaluating disease status after surgery for PTC.
Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy
Authors: Saud Alwatban, Haifa Alfaraidi, Abdulaziz Alosaimi, Iram Alluhaydan, Majid Alfadhel, Michel Polak, Angham Almutair
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: dnajc3, case report, diabetes, hypothyroidism, monogenic diabetes, neurodegeneration, pancreatic atrophy, short stature
MeSH terms: Diabetes Mellitus / genetics, HSP40 Heat-Shock Proteins / genetics, Pancreas / pathology, Case Reports, Adolescent, Adult, Atrophy, Body Height, Brain / diagnostic imaging, Child, Child, Preschool, Consanguinity, Diabetes Mellitus / pathology, Exome Sequencing, Gait Ataxia / etiology, Gait Ataxia / genetics, Humans, Hypothyroidism / etiology, Hypothyroidism / genetics, Infant, Intellectual Disability / etiology, Intellectual Disability / genetics, Magnetic Resonance Imaging, Male, Mutation, Thyroid Nodule / complications, DNAJC3 protein, human, HSP40 Heat-Shock Proteins

Introduction:
DNAJC3, abundant in the pancreatic cells, attenuates endoplasmic reticulum stress. Homozygous DNAJC3 mutations have been reported to cause non-immune juvenile-onset diabetes, neurodegeneration, hearing loss, short stature, and hypothyroidism.
Case description:
We report a case of homozygous DNAJC3 mutation in two siblings of a consanguineous family. A 3-year-old boy presented with short stature and a thyroid nodule. Laboratory findings confirmed hypothyroidism. Subsequently, levothyroxine was administered. Growth hormone (GH) stimulation test results were within the normal limits. His stature was exceedingly short (80.5 cm) (-3.79 SDS). The patient developed sensorineural hearing loss at age 6 years; his intellectual functioning was impaired. Recombinant Human Growth Hormine (rhGH) treatment was postponed until the age of 6.9 years due to a strong family history of diabetes. At age 9 years, he developed an ataxic gait. Brain magnetic resonance imaging (MRI) revealed neurodegeneration. The patient developed diabetes at the age of 11 years-5 years after the initiation of rhGH treatment. Tests for markers of autoimmune diabetes were negative. Lifestyle modification was introduced, but insulin therapy was eventually required. Whole-exome-sequencing (WES) revealed a homozygous DNAJC3 mutation, which explained his clinical presentation. MRI revealed a small, atrophic pancreas. At the age of 17, his final adult height was 143 cm (-4.7 SDS). His elder brother, who had the same mutation, had a similar history, except that he had milder ataxia and normal brain MRI finding at the age of 28 years.
Conclusion:
We propose that DNAJC3 mutation can be considered as a cause of maturity onset diabetes of the young. Patients with DNAJC3 mutations may possess a small atrophic pancreas.
A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report
Authors: Karolina Maciak, Anna Adamowicz-Salach, Jaroslaw Poznanski, Monika Gora, Jan Fronk, Beata Burzynska
Journal: Front Genet (2020)
Keywords: tmprss6 (matriptase-2), congenital non-spherocytic hemolytic anemia, hepcidin, iron metabolism, pyruvate kinase deficiency

Background:
Red cell pyruvate kinase deficiency (PKD) is a defect of glycolysis causing congenital non-spherocytic hemolytic anemia. PKD is transmitted as an autosomal recessive trait. The clinical features of PKD are highly variable, from mild to life-threatening anemia which can lead to death in the neonatal period. Most patients with PKD must receive regular transfusions in early childhood and as a consequence suffer from iron overloading.
Patient:
Here, we report a Polish family with life-threatening hemolytic anemia of unknown etiology. Whole exome sequencing identified two heterozygous mutations, c.1529 G > A (p.R510Q) and c.1495 T > C (p.S499P) in the PKLR gene. Molecular modeling showed that the both PKLR mutations are responsible for major disturbance of the protein structure and functioning. Despite frequent transfusions the patients do not show any signs of iron overload and hepcidin, a major regulator of iron uptake, is undetectable in their serum. The patients were homozygous for the rs855791 variant of the TMPRSS6 gene which has earlier been shown to down-regulate iron absorption and accumulation.
Conclusion:
The lack of iron overload despite a reduced level of hepcidin in two transfusion-dependent PKD patients suggests the existence of a hepcidin-independent mechanism of iron regulation preventing iron overloading.
Stauffer's syndrome as a prominent manifestation of renal cancer: a case report
Authors: Georgios P Kranidiotis, Paraskevi T Voidonikola, Meletios K Dimopoulos, Maria I Anastasiou-Nana
Journal: Cases J (2009)

Background:
Renal cell carcinoma is associated with a wide spectrum of para-neoplastic syndromes, which may be precursors of primary or recurrent disease. Non-metastatic hepatic dysfunction in patients suffering from renal cell carcinoma is known as Stauffer's syndrome. It is associated with the production of cytokines by the tumour, and several biochemical abnormalities, including elevated serum alkaline phosphatase.
Case presentation:
We describe a 36-year-old woman presenting with various non-specific, systemic disease manifestations, and elevated liver enzymes due to cholestasis as the main laboratory abnormality. Imaging studies showed a solid mass in the left kidney, which, after surgical excision, was identified as renal cell carcinoma. No metastasis was found.
Conclusion:
Stauffer syndrome may precede other manifestations of renal cell carcinoma. In case of unexplained abnormal liver function, particularly in presence of systemic symptoms, underlying renal cell carcinoma should be excluded by focused investigations.
Urachal Cyst Causing Small Bowel Obstruction in an Adult with a Virgin Abdomen
Authors: Michael P O'Leary, Zane W Ashman, David S Plurad, Dennis Y Kim
Journal: Case Rep Surg (2016)

Introduction. A patent urachus is a rare congenital or acquired pathology, which can lead to complications later in life. We describe a case of urachal cystitis as the etiology of small bowel obstruction in an adult without prior intra-abdominal surgery. Case Report. A 64-year-old male presented to the acute care surgery team with a 5-day history of right lower quadrant abdominal pain, distention, nausea, and vomiting. He had a two-month history of urinary retention and his past medical history was significant for benign prostate hyperplasia. On exam, he had evidence of small bowel obstruction. Computed tomography revealed high-grade small bowel obstruction secondary to presumed ruptured appendicitis. In the operating room, an infected urachal cyst was identified with adhesions to the proximal ileum. After lysis of adhesions and resection of the cyst, the patient was subsequently discharged without further issues. Conclusion. Although rare, urachal pathology should be considered in the differential diagnosis when evaluating a patient with small bowel obstruction without prior intraabdominal surgery, hernia, or malignancy.