OpenMed/multicare-articles huggingface dataset:
Hashimoto's thyroiditis presenting with cardiac tamponade: a case report
Authors: Muhammadnur Rachim Enoch, Muhammad Irfan, Rachmad Budianto, Achmad Hardin
Journal: Pan Afr Med J (2023)
Keywords: cardiac tamponade, hashimoto’s thyroiditis, case report, hypothyroidism
MeSH terms: Cardiac Tamponade / diagnosis, Cardiac Tamponade / etiology, Hashimoto Disease / complications, Hashimoto Disease / diagnosis, Hashimoto Disease / drug therapy, Hypothyroidism / complications, Pericardial Effusion / etiology, Case Reports, Adult, Female, Humans, Inflammation

Cardiac tamponade as the initial manifestation of Hashimoto's thyroiditis is an exceedingly uncommon occurrence. We present the case of a 36-year-old female who was admitted due to acute respiratory distress. A cardiac ultrasound revealed a severe pericardial effusion with tamponade signs. Subsequently, percutaneous pericardiocentesis was performed, resulting in a swift clinical improvement. Laboratory examinations confirmed severe hypothyroidism associated with Hashimoto's disease. Despite undergoing hormone replacement therapy, histological analysis of the pericardium revealed a chronic inflammation process. A follow-up cardiac ultrasound conducted six months later indicated the presence of a well-tolerated chronic pericardial effusion. In conclusion, clinicians should consider hypothyroidism as a potential cause when cardiac tamponade is observed, particularly in the absence of tachycardia. The prognosis is generally favorable with hormone replacement therapy, but regular ultrasound monitoring should be maintained until the patient achieves a euthyroid state.
Superficial ulnar artery diagnosed by vascular ultrasound: case report
Authors: Mariana Jordão França, Luciana Akemi Takahashi, Graciliano José França, Luiz Fernando Tosi Ferreira
Journal: J Vasc Bras (2024)
Keywords: doppler ultrasound, anatomical variation, case report, ulnar artery
MeSH terms: Case Reports

The largest branch of the terminal division of the brachial artery is the ulnar artery, which arises after the cubital fossa. This artery usually has a deep path in the muscles of the anterior forearm and is responsible for vascularization of the superficial and deep musculature on the ulnar side of the forearm and hypothenar area of the hand. We report an anatomical variant diagnosed by Doppler ultrasound in which the ulnar artery had a superficial position in the forearm. Occurrence of a superficial ulnar artery is rare, but it is an important fact for clinicians, surgeons, and nursing professionals.
Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease
Authors: Raffaele Scafa, Maurizio Merico, Alfonso Massimiliano Ferrara, Sara Watutantrige Fernando, Pava Srsen, Francesca Schiavi, Stefania Zovato, Alberto Ferlin
Journal: Front Oncol (2023)
Keywords: vhl, von hippel lindau, azoospermia, male infertility, papillary cystadenoma of the epididymis
MeSH terms: Case Reports

We report the case of a 38-year-old man whose diagnostic workup for primary infertility led to the discovery of obstructive azoospermia due to bilateral papillary cystadenoma of the epididymis (PCE). Given the rarity of this finding and because PCE could be a manifestation of Von Hippel-Lindau disease (VHL), although the patient had no family or personal history of VHL, the VHL gene was tested, and a known pathogenetic variant (c.464-1G>A; p.)? was found. Screening for other Von Hippel-Lindau disease-associated neoplasms revealed bilateral retinal capillary hemangioblastomas, clear cell renal cell carcinoma, and multiple pancreatic cysts. In this case, an accurate diagnostic workup for male infertility allowed the detection of a rare life-threatening syndrome, already presenting with several silent neoplasms. For this reason, this case report may be useful for reproductive medicine specialists in the management of male infertility.
Primary malignant melanoma of the female urethra A rare histopathology case report
Authors: Anahita Ansari Djafari, Babak Javanmard, Sina Samenezhad, Amir Hossein Eslami, Azadeh Rakhshan
Journal: Urol Case Rep (2023)
MeSH terms: Case Reports

Malignant melanoma in the urethra is a rare tumor that is difficult to diagnose and treat, leading to a poor prognosis. In this paper, we present the case of a 36-year-old woman with history of invasive rectal adenocarcinoma (PT2N0Mx) who was tumor free for 5 years presented to urology outpatient with history of poor stream, dysuria, and dyspareuria. On examination, there was a huge mass in the meatus of urethra. Urethral malignant melanoma shows a high rate of local recurrence, about 60 % in 1 year. Overall survival in a series of 11 cases at 3 years was 27 %.
Double somatic mutations in CTNNB1 and GNA11 in an aldosterone-producing adenoma
Authors: Kazutaka Nanba, Amy R Blinder, Aaron M Udager, Yuusuke Hirokawa, Takayoshi Miura, Hiroshi Okuno, Koki Moriyoshi, Yuto Yamazaki, Hironobu Sasano, Akihiro Yasoda, Noriko Satoh-Asahara, William E Rainey, Tetsuya Tagami
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: ctnnb1, cyp11b2, gna11, aldosterone-producing adenoma, primary aldosteronism, somatic mutation
MeSH terms: Adenoma / genetics, Adenoma / metabolism, Adenoma / surgery, Adrenocortical Adenoma / complications, Adrenocortical Adenoma / genetics, Adrenocortical Adenoma / surgery, Hyperaldosteronism / genetics, Hyperaldosteronism / surgery, Hypertension / complications, Case Reports, Adult, Aldosterone / metabolism, Cytochrome P-450 CYP11B2 / metabolism, Female, GTP-Binding Protein alpha Subunits / genetics, GTP-Binding Protein alpha Subunits / metabolism, Humans, Middle Aged, Mutation, Pregnancy, beta Catenin / genetics, beta Catenin / metabolism, Aldosterone, Cytochrome P-450 CYP11B2, beta Catenin, CTNNB1 protein, human, GNA11 protein, human, GTP-Binding Protein alpha Subunits

Double somatic mutations in CTNNB1 and GNA11/Q have recently been identified in a small subset of aldosterone-producing adenomas (APAs). As a possible pathogenesis of APA due to these mutations, an association with pregnancy, menopause, or puberty has been proposed. However, because of its rarity, characteristics of APA with these mutations have not been well characterized. A 46-year-old Japanese woman presented with hypertension and hypokalemia. She had two pregnancies in the past but had no history of pregnancy-induced hypertension. She had regular menstrual cycle at presentation and was diagnosed as having primary aldosteronism after endocrinologic examinations. Computed tomography revealed a 2 cm right adrenal mass. Adrenal venous sampling demonstrated excess aldosterone production from the right adrenal gland. She underwent right laparoscopic adrenalectomy. The resected right adrenal tumor was histologically diagnosed as adrenocortical adenoma and subsequent immunohistochemistry (IHC) revealed diffuse immunoreactivity of aldosterone synthase (CYP11B2) and visinin like 1, a marker of the zona glomerulosa (ZG), whereas 11β-hydroxylase, a steroidogenic enzyme for cortisol biosynthesis, was mostly negative. CYP11B2 IHC-guided targeted next-generation sequencing identified somatic CTNNB1 (p.D32Y) and GNA11 (p.Q209H) mutations. Immunofluorescence staining of the tumor also revealed the presence of activated β-catenin, consistent with features of the normal ZG. The expression patterns of steroidogenic enzymes and related proteins indicated ZG features of the tumor cells. PA was clinically and biochemically cured after surgery. In conclusion, our study indicated that CTNNB1 and GNA11-mutated APA has characteristics of the ZG. The disease could occur in adults with no clear association with pregnancy or menopause.
Development of Hydrosalpinx After Prior Vaginal Hysterectomy and Bilateral Salpingectomy
Authors: Jennifer M Lai, Megan Masten, Amy Markese
Journal: Cureus (2024)
Keywords: hydrosalpinx, laparoscopic hysterectomy, pelvic pain, salpingectomy, total vaginal hysterectomy
MeSH terms: Case Reports

Hydrosalpinx is defined as the obstruction and fluid distension of the fallopian tube. It is most often seen in the setting of pelvic inflammatory disease, but preserved fallopian tubes or tubal segments after hysterectomy can also develop hydrosalpinx. This case report highlights an instance of painful hydrosalpinx after vaginal hysterectomy and advocates for the complete removal of fallopian tubes as the standard of care at the time of hysterectomy of any route. In this case, a 40-year-old female, G4P3104, with a history of vaginal hysterectomy and prophylactic bilateral salpingectomy for abnormal uterine bleeding and symptomatic uterine leiomyoma two years prior, presented with one month of left lower quadrant pain. She was found to have an anechoic, tubular structure adjacent to the left ovary on transvaginal ultrasound. At the time of diagnostic laparoscopy, a 10x4 centimeter (cm) dilated hydrosalpinx was found and removed. Pathology confirmed the hydrosalpinx, and the patient's pain resolved after the surgery. Given our findings of painful hydrosalpinx following incomplete bilateral salpingectomy at the time of vaginal hysterectomy, attempts at the removal of the entire fallopian tube including the fimbriae are strongly recommended to prevent the morbidity of repeated surgery.
Acute lupus pneumonitis resembling miliary tuberculosis: A case-based review
Authors: Xin Li, Yuan Wang, Baoyu Zhang, Xiaoxia Jia, Lin Mu, Jing Ke
Journal: Open Life Sci (2023)
Keywords: acute lupus pneumonitis, miliary tuberculosis, systemic lupus erythematosus
MeSH terms: Case Reports

Systemic lupus erythematosus (SLE) is an autoimmune disease involving multiple systems and organs, with pulmonary involvement known to be associated with disease prognosis and mortality. Acute lupus pneumonitis (ALP) resembling miliary tuberculosis (TB) is rare. Here, we present a case of ALP mimicking miliary TB and review the literature. A 19-year-old male student was referred to our hospital with fever. Although the patient met the diagnostic criteria for SLE, diffuse miliary nodules in both lungs were observed on a chest computed tomography scan. A series of tests, including pathological testing of bronchoscopy brushes, T-lymphocyte culture + interferon assay (A + B), tuberculin test, detection of mycobacterium TB DNA, and acid-fast bacilli smear in bronchoalveolar lavage fluid, were unable to confirm the presence of TB infection. We considered the patient to have ALP. After beginning ALP therapy, his symptoms disappeared, and the imaging and hematological results returned to normal. Miliary TB and ALP have similar clinical manifestations and imaging changes, which make diagnosis difficult. This case highlights the need to ensure accurate diagnosis and treatment to improve prognosis.
Case Report: A Case Report on an 18-Year-Old Female with Cerebral Vasculitis in Systemic Lupus Erythematosus (SLE)
Authors: Sakshi Dudhe, Gaurav V Mishra, Pratap Singh Parihar, Devyansh Nimodia, Dhananjay Shinde, Anjali Kumari
Journal: F1000Res (2024)
Keywords: cerebral vasculitis, immunological dysfunction, multiorgan failure, neurological complications, systemic lupus erythematosus (sle), treatment challenges
MeSH terms: Lupus Erythematosus, Systemic / complications, Vasculitis, Central Nervous System / complications, Vasculitis, Central Nervous System / etiology, Case Reports, Adolescent, Fatal Outcome, Female, Humans

Cerebral vasculitis is a rare but severe complication of Systemic Lupus Erythematosus (SLE), presenting significant challenges in management due to its potential for devastating neurological consequences and poor prognosis. We present a case of an 18-year-old female with known SLE who presented with seizures, declining cognitive function, and unresponsiveness. Neurological examination, laboratory investigations, and radiological imaging supported the diagnosis of cerebral vasculitis secondary to SLE. Despite aggressive immunosuppressive therapy, the patient's neurological status continued to deteriorate, leading to respiratory failure and multiorgan dysfunction. Ultimately, the patient succumbed to multiorgan failure attributed to severe CNS vasculitis and its complications. This case underscores the importance of early recognition and aggressive management of cerebral vasculitis in SLE while highlighting the need for further research into more effective therapeutic strategies to improve patient outcomes.
Major response of a peritoneal mesothelioma to nivolumab and ipilimumab: a case report, molecular analysis and review of literature
Authors: Marie-Florence Reveneau, Julien Masliah-Planchon, Manuel Fernandez, Abdenour Ouikene, Bernard Dron, Innocenti Dadamessi, Charles Dayen, Lisa Golmard, Bruno Chauffert
Journal: Front Oncol (2024)
Keywords: bap1, pd-l1, immune checkpoint inhibitors, ipilimumab, molecular stratification, nivolumab, peritoneal mesothelioma
MeSH terms: Case Reports

Malignant peritoneal mesothelioma (MPM) is a rare tumor associated with a poor prognosis and a lack of consensus regarding treatment strategies. While the Checkmate 743 trial demonstrated the superiority of first-line nivolumab and ipilimumab over chemotherapy in malignant pleural mesothelioma (MPlM), few studies have assessed the effectiveness of immunotherapy against MPM, due to its rarity. Here, we report a major and sustained 12-month response in a 74-year-old female patient who received the anti-PD-1 nivolumab and the anti-CTLA4 ipilimumab as first-line therapy for diffuse MPM. PD-L1 was expressed and BAP1 expression was lost, as shown by immunohistochemistry, however the BAP1 gene was not mutated. Our findings suggest a role for ICI in non-resectable diffuse MPM exhibiting PD-L1 overexpression and loss of BAP1 expression, and instill new hope in their treatment. To our knowledge, this is the second reported case of dual immunotherapy used as first-line in MPM with a major clinical response. To investigate the clinical outcome, we conducted additional molecular analyses of the MPM tumor and we reviewed the literature on immunotherapy in MPM to discuss the role of PD-L1 and BAP1.
Analysis of muscle synergy and gait kinematics during regain of gait function through rehabilitation in a monoplegic patient
Authors: Akira Ebihara, Mitsuki Hirota, Yasuhiro Kumakura, Masanori Nagaoka
Journal: Front Hum Neurosci (2024)
Keywords: gait kinematics, monoplegia, muscle synergy, non-negative matrix factorization, number of strides, recovery process, stroke

Purpose:
We conducted muscle synergy and gait analyses in a monoplegic patient whose gait function improved through training, to explore the possibility of using these parameters as indicators of training.
Case presentation:
A 49-year-old male had monoplegia of the right lower limb caused by infarction of the left paracentral lobule. After 2 months of training, he was able to walk and returned to work.
Methods:
Consecutive analyses were done after admission. Muscle synergy analysis: during walking, surface electromyograms of gluteus maximus, quadriceps femoris, adductor femoris, hamstrings, tibialis anterior, medial/lateral gastrocnemius, and soleus on both sides were recorded and processed for non-negative matrix factorization (NNMF) analysis. Gait analysis: markers were placed at foot, and walking movements were video recorded as changes in position of the markers.
Results:
Compared with three muscle synergies detected on the non-paretic side, two muscle synergies were extracted on the paretic side at admission, and the number increased to three and then four with progress in rehabilitation training. Changes in weighting and activity of the muscle synergies were greater on the non-paretic side than on the paretic side. With training, the knee joint flexor and the ankle dorsiflexor activities on the paretic side and the gluteus maximus activity on the non-paretic side increased during swing phase as shown by weight changes of muscle synergies, and gait analysis showed increased knee joint flexion and ankle joint dorsiflexion during swing phase in the paretic limb. On the non-paretic side, however, variability of muscle activity was observed, and three or four muscle synergies were extracted depending on the number of strides analyzed.
Conclusion:
The number of muscle synergies is considered to contribute to motor control. Rehabilitation training improves gait by increasing the number of muscle synergies on the paretic side and changing the weights of the muscles constituting the muscle synergies. From the changes on the non-paretic side, we propose the existence of compensatory mechanisms also on the non-paretic side. In muscle synergy analysis, in addition to the filters, the number of strides used in each analysis set has to be examined. This report highlights the issues of NNMF as analytical methods in gait training for stroke patients.
Disseminated Gastrointestinal Basidiobolomycosis: A Case Report with Review of Diagnostic Clues
Authors: Neda Soleimani, Mohammad Hossein Anbardar, Hamed Nikoupour, Faranak Derakhshan, Mojtaba Shafiekhani, Sahand Mohammadzadeh, Seyed Mohamad Sakhaei, Mahsa Farhadi
Journal: Case Rep Med (2024)
MeSH terms: Case Reports

Introduction:
Basidiobolomycosis is a rare fungal infection caused by an environmental saprophyte, Basidiobolus ranarum. It usually presents as a chronic subcutaneous infection; however, few cases of gastrointestinal involvement have been reported. The exact transmission route of gastrointestinal cases is not clear, and diagnosis always requires a high index of suspicion because it tends to mimic other inflammatory and neoplastic conditions. Case Report. A 31-year-old immunocompetent woman presented with abdominal pain and an advanced colon mass. She was completely well until about 1.5 years ago, when she underwent bariatric surgery. One year after surgery, chronic abdominal pain developed. A colonoscopy showed an ulcerative lesion in the descending colon, and the biopsy was in favor of ulcerative colitis. Despite immunosuppressive treatment, there was no improvement, and with worsening symptoms, more investigations revealed advanced colon mass with entrapment of the stomach and pancreas. Colonic mucosa biopsy and trucut biopsy of the mass showed just necrosis and acute inflammation; thus, she underwent exploratory laparotomy with colectomy, partial gastrectomy, distal pancreatectomy, and left nephrectomy. On pathologic examination, there was granulomatous inflammation plus the Splendore-Hoeppli phenomenon around fungal hyphae, which was diagnostic for gastrointestinal basidiobolomycosis. Previous pathology slides were reviewed and revealed a tiny focus of basidiobolomycosis. After 6 months of treatment with itraconazole, she is relatively well without any clinical or radiologic abnormalities.
Conclusion:
Our case highlights the significance of suspicion for basidiobolomycosis in ulcerative and necrotic lesions with increased eosinophils, especially in the presence of abdominal mass and systemic eosinophilia.
Mucocutaneous relapse during late latent syphilis as initial presentation of HIV infection
Authors: Luca Pipitò, Irene Russotto, Dalila Arena, Cinzia Calà, Antonio Cascio
Journal: IDCases (2024)
Keywords: hiv, late latent syphilis, relapse
MeSH terms: Case Reports

Syphilis is a re-emerging sexually transmitted infection. According to the definition, latent syphilis is characterized by seroreactivity without clinical manifestations. Here, we reported an atypical case of syphilis in a patient with HIV naïve to the antiretroviral treatment characterized by mucocutaneous relapse that occurred in the late latent stage. The patient reported his last sexual intercourse about 18 months ago and had self-healing genital and palmoplantar lesions more than 1 year before the presentation. He denied any other types of sexual relationship. He presented with mucocutaneous scattered lesions on his face, neck, palms, soles, penis, and scrotum. He was compliant with arthralgias, myalgias, asthenia, new onset stypsis, and mild anorectal pain. Testing for Syphilis and HIV returned positive. Opportunistic infections were excluded, and antiretroviral therapy with a bictegravir-based regimen was started. Syphilis was treated successfully with three doses of 2.4 million units of benzathine penicillin.
Combined antiviral therapy as effective and feasible option in allogenic hematopoietic stem cell transplantation during SARS-COV-2 infection: a case report
Authors: Serena Vita, Alessandra D'Abramo, Andrea Coppola, Chiara Farroni, Anna Paola Iori, Francesca Faraglia, Alessandro Sette, Alba Grifoni, Cecilia Lindestam Arlehamn, Michele Bibas, Delia Goletti, Emanuele Nicastri
Journal: Front Oncol (2024)
Keywords: hsct, sars-cov-2 infection, antigen-specific response, antivirals, dual antiviral therapy, immunocompromised, prolonged infection
MeSH terms: Case Reports

Here we describe the case of a 51 years old Italian woman with acute lymphoblastic leukemia who underwent to hematopoietic stem cell transplantation (HSCT) during SARS-COV-2 infection. She presented a prolonged COVID-19 successfully treated with dual anti SARS-COV-2 antiviral plus monoclonal antibody therapy.
Neonatal cholestasis as the onset symptom of McCune-Albright syndrome: case reports and a literature review
Authors: Weiyuan Fang, Yanhui Zhang, Lian Chen, Xinbao Xie
Journal: Front Pediatr (2023)
Keywords: gnas, mccune–albright syndrome (mas), liver, liver histology, neonatal cholestasis

Aim:
This study aimed to summarize and show the characteristics and evolutionary process of neonatal cholestasis caused by McCune-Albright syndrome (MAS), as neonatal cholestasis may be the initial manifestation of MAS before other classic clinical features appear.
Methods:
The clinical characteristics, treatment methods, and outcomes of three neonatal cholestasis cases caused by MAS in our center were retrospectively studied. In addition, all the reported cases of MAS combined with cholestasis were reviewed and summarized to show the cholestatic features in them.
Results:
We have confirmed three MAS cases in our center, presenting onset symptoms of jaundice, pale stool, and neonatal cholestasis soon after birth. The cholestasis subsided spontaneously at around the sixth month. The literature review showed that the levels of total bilirubin, conjugated bilirubin, ALT, AST, and GGT in neonatal MAS cholestasis cases were 207 μmol/L (range 65-445 μmol/L), 162 μmol/L (range 46-412 μmol/L), 821 U/L (range 85-3,597 U/L), 532 U/L (range 127-3,633 U/L), and 244 U/L (range 79-3,800 U/L), respectively. Liver histology showed canalicular and hepatocellular cholestasis, giant hepatic cell transformation, and bile paucity. Extrahepatic manifestations such as café-au-lait pigmented skin lesions, Cushing's syndrome, hyperthyroidism, renal tubular dysfunction, and skeletal abnormalities could occur simultaneously when jaundice occurred. GNAS mutations had a high positive rate (83.3%-100%) in liver tissue with cholestasis. Neonatal cholestasis caused by MAS could be self-resolved, but hepatic lesions persist and have malignant potential.
Conclusion:
MAS can be one of the causes of neonatal cholestasis, which may be the first manifestation of the disease. Extrahepatic coexisting symptoms of MAS and liver histology can help to distinguish MAS from other etiology of cholestasis. Detecting GNAS mutations in liver tissue may shorten diagnostic time and is of particular interest in the partial and atypical forms of MAS with neonatal cholestasis. Neonatal cholestasis in children with MAS can self-resolve, but liver dysfunction and malignant lesions persist.