OpenMed/multicare-articles huggingface dataset:
Case report: A rare case of thyrotropin-secreting pituitary macroadenoma with diffuse calcification presenting with hyperthyroidism and literature review
Authors: Huiying Yan, Chaolong Yan, Jiannan Mao, Wei Jin
Journal: Front Oncol (2023)
Keywords: tshoma, calcification, hyperthyroidism, macroadenoma, pituitary adenoma (pa)
MeSH terms: Case Reports

Background:
Thyroid-stimulating hormone (TSH)-secreting pituitary adenomas (TSHomas) are rare and usually present with hyperthyroidism. Calcification in pituitary tumors is an infrequent finding. Herein, we report an extremely rare case of TSHoma with diffuse calcification.
Case description:
A 43-year-old man was admitted to our department with a complaint of palpitations. An endocrinological examination revealed elevated serum levels of TSH, free triiodothyronine (FT3), and free thyroxin, whereas the physical examination revealed no obvious abnormality. Computerized tomography (CT) showed a sellar mass with diffuse calcification. Contrast-enhanced T1-weighted images revealed a less-enhancing tumor without obvious suprasellar or parasellar expansion. The tumor was completely removed via endoscopic transnasal-sphenoidal surgery. Microscopically, nests of cells were inconspicuous among the diffuse psammoma bodies. Expression of TSH was patchy, and only several TSH-positive cells were observed. Postoperatively, the serum levels of TSH, FT3, and FT4 decreased to their normal range. Follow-up MR images showed no evidence of residual tumor or regrowth after the resection.
Conclusions:
Herein, we report a rare case of TSHoma with diffuse calcification that presented with hyperthyroidism. A correct and early diagnosis was made according to the European Thyroid Association guidelines. This tumor was completely removed via endoscopic transnasal-transsphenoidal surgery (eTSS), and thyroid function was normalized after the operation.
Molecular complexity analysis of the diagnosis of Gitelman syndrome in China
Authors: Wei Song, Yue Hu, Ling Zhao, Jinming Zhang, Yu Zhang, Jianxuan Wen
Journal: Open Life Sci (2023)
Keywords: gitelman syndrome, slc12a3, hypokalemia
MeSH terms: Case Reports

Gitelman syndrome (GS) is an autosomal recessive renal tubal disease characterized by hypomagnesemia, hypokalemia, and hypocalciuria. The disease is caused by defects in the SLC12A3 gene, which encodes the thiazide diuretic-sensitive sodium chloride cotransporter (NCCT). In this study, a 20-year-old female patient with recurrent hypokalemia was tested for a hypokalemia-related panel using Next Generation Sequencing. Pedigree analysis was performed on her parents (non-consanguineous) and sister using Sanger sequencing. The results revealed that the patient carried compound heterozygous variants of the SLC12A3 gene: c.179C > T (p.T60M) and c.1001G > A (p.R334Q). Furthermore, her asymptomatic 6-year-old sister also carried both mutations. While the p.T60M mutation had been reported previously, the p.R334Q mutation was novel, and amino acid position 334 was identified as a mutation hotspot. Our findings provide an accurate molecular diagnosis that is essential for the diagnosis, counseling, and management of not only the symptomatic patient but also her asymptomatic sister. This study contributes to our understanding of the GS, which has a prevalence of approximately 1 in 40,000 and a heterozygous mutation carrier rate of 1% in Caucasians. Specifically, we observed a compound heterozygous mutation of the SLC12A3 gene in a 20-year-old female patient presenting with clinical symptoms consistent with GS.
Osteoma Cutis of the Face in CBCT Images
Authors: Daniah Alhazmi, Fatma Badr, Fatima Jadu, Ahmed M Jan, Zainab Abdulsalam
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Osteoma cutis (OC) is a rare benign disorder where osseous nodules form in the reticular layer of normal skin. These nodules are formed by the deposition of lamellar bone and are characterized by osteocytes in the core and osteoclasts around the periphery. Interpretation of osteoma cutis cases has always been challenging especially using conventional two-dimensional (2D) radiographs, owing to difficulty in localization. Cone beam CT (CBCT), with its three-dimensional (3D) capabilities, offers a great tool to help detect and diagnose these calcific entities. We report a case of miliary type OC incidentally detected in the maxillofacial region using CBCT imaging.
Case report: Cortico-ocular interaction networks in NBA2K
Authors: Andreas Stamatis, Sergi Garcia-Retortillo, Grant B Morgan, Ana Sanchez-Moreno
Journal: Front Netw Physiol (2023)
Keywords: eeg, brain waves, curia, esports, eye tracking, pupillometry, sport neuroscience
MeSH terms: Case Reports

The sport industry has never seen growth such as eSports'. Using synchronized monitoring of two biological processes on a 25-year-old gamer, we investigated how his brain (via EEG) and eyes (via pupil dilation) interacted dynamically over time as an integrated network during NBA2K playing time. After the spectral decomposition of the different Brain and Eye signals into seven frequency bands, we calculated the bivariate equal-time Pearson's cross-correlation between each pair of EEG/Eye spectral power time series. On average, our results show a reorganization of the cortico-muscular network across three sessions (e.g., new interactions, hemispheric asymmetry). These preliminary findings highlight the potential need for individualized, specific, adaptive, and periodized interventions and encourage the continuation of this line of research for the creation of general theories of networks in eSports gaming. Future studies should recruit larger samples, investigate different games, and explore cross-frequency coordination among other key organ systems.
Deep Vein Thrombosis and Pulmonary Embolism in the Setting of Mycoplasma Infection
Authors: Sandal Saleem, Brian Berman
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Thirteen-year-old female twins presented one week apart with documented Mycoplasma pneumoniae respiratory infection. Each developed venous thrombosis and pulmonary emboli in association with transient self-limited para-infectious anti-phospholipid antibodies. Comprehensive evaluation revealed no identifiable genetic prothrombotic variables. Both children recovered after receiving antibiotics and anticoagulation therapy. Thrombotic complications associated with Mycoplasma pneumoniae infections are rare, particularly in children; the occurrence of this complication in identical twins has not been previously reported.
Gallstone Ileus Post-cholecystectomy: A Case Review
Authors: Nader A Helmy, Ondrej Ryska
Journal: Cureus (2023)
Keywords: biliary-enteric fistula, gallstone ileus, post-cholecystectomy, rigler’s triad, small bowel obstruction
MeSH terms: Case Reports

Gallstone ileus is an unusual cause of small bowel obstruction, in general, let alone after cholecystectomy. It occurs in patients with chronic calculous cholecystitis and gallstones who develop a cholecystoduodenal fistula over time. The diagnosis is made based on clinical presentation and examination findings and is confirmed with the use of radiological modalities, such as computed tomography (CT) scan, which has been proven to be the most sensitive investigation in diagnosis. Here, we present a case of gallstone ileus that occurred 25 years after laparoscopic cholecystectomy. CT scan on admission showed adhesional small bowel obstruction given the patient's previous abdominal surgery. The patient was managed conservatively as per guidelines for the management of adhesional small bowel obstruction for 72 hours. Obstructive symptoms did not resolve despite all conservative measures, and a gastrografin challenge showed no contrast reaching the colon. Hence, the patient underwent an exploratory laparotomy to manage his ongoing bowel obstruction. Laparotomy revealed gallstone ileus as the cause of obstruction. This case highlights the importance of considering gallstone ileus in the differential diagnosis for patients who present to the emergency department with small bowel obstruction even years after cholecystectomy. Post-cholecystectomy gallstone ileus is very rare with very few cases reported in the literature. This condition poses diagnostic challenges both because of its rarity and because the gallbladder had been previously removed. A high index of suspicion by the surgeon is needed for diagnosis.
Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome
Authors: Oleg Kozhevnikov, Svetlana Kralina, Yulia Yurasova, Vladimir Kenis, Susanne Gerit Kircher, Ali Al Kaissi
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Purpose:
Progressive deformity of the lower limbs can be encountered in a long list of syndromic associations. The baseline tool in the management of such disorders is to approach to a definite diagnosis.
Methods:
We describe a 4-year-old girl who presented with the clinical phenotype and genotype of congenital erythrokeratoderma, keratosis, and sensorineural hearing loss (keratitis-ichthyosis-deafness syndrome) (KID syndrome). She manifested progressive contractures of the knees associated with talipes equinovarus of the feet. The latter deformities were the main reasons behind her severe retardation in acquiring the normal locomotor functions.
Results:
The analysis revealed mutations in intron 1 of the GJB2 gene of C.32G>A (p.Gly11Glu) and c.35delG in the compound heterozygous state. The presence in the genotype of the "dominant" mutation c.32G>A (p.Glu11Glu) was compatible with the clinical phenotype of KID syndrome.
Conclusion:
Surgical interventions through the extension of the hamstring tendons have been performed successfully via the application of an external distraction apparatus, namely, Volkov- Oganesyan. The latter procedures resulted in total release of her awkward knee contractures. Eventually, the child was able to regain the physiological alignment of her lower limbs and resume walking. To the best of our knowledge, the overall management of this child could be the first in the literature.
Atypical Presentation of Amyloidosis in a Female Patient with Muscle Weakness
Authors: Raziyeh Lashkari, Maryam Loghman, Leila Aghaghazvini, Hiva Saffar, Bentolhoda Ziaadini, Reza Shahriarirad, Mohammad Nekooeian, Mohammad Nejadhosseinian, Majid Alikhani
Journal: Case Rep Med (2023)
MeSH terms: Case Reports

Muscle involvement represents a well-recognized but rare manifestation of amyloidosis. Here, we report a 40-year-old female who presented with muscle weakness, musculoskeletal pain, and proteinuria, which was eventually diagnosed as myopathic amyloidosis based on muscle biopsy results. A multidisciplinary approach appears to be the cornerstone of the diagnostic work up for recognizing the unusual amyloid myopathy.
Giant Left Ventricular Thrombus in a Patient with Acute Ischemic Stroke: A Case Report and Minireview
Authors: Fan Ye, Burton V Silverstein, Matheen A Khuddus, Christopher L Bray, Arthur C Lee
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

A 56-year-old healthy male with no obvious risk factors or significant past medical history was admitted to the emergency room with acute ischemic stroke. On his transthoracic echocardiography (TTE), an extremely large thrombus was detected at the apex involving the distal anterior wall. The thrombus was predominantly adherent but with a mobile tip. The patient was subsequently managed with dual antiplatelet therapy. In this report, we present an interesting case of an acute ischemic stroke secondary to a giant left ventricular thrombus in a patient with no past significant cardiac or neurologic medical history.
Case Report: Immune Checkpoint Blockade Plus Interferon-Γ Add-On Antifungal Therapy in the Treatment of Refractory Covid-Associated Pulmonary Aspergillosis and Cerebral Mucormycosis
Authors: Alexandra Serris, Amani Ouedrani, Fabrice Uhel, Marianne Gazzano, Vincent Bedarida, Claire Rouzaud, Marie-Elisabeth Bougnoux, Jean-Herlé Raphalen, Sylvain Poirée, Olivier Lambotte, Guillaume Martin-Blondel, Fanny Lanternier
Journal: Front Immunol (2022)
Keywords: anti-pd 1, cerebral mucormycosis, covid-associated pulmonary aspergillosis, immunotherapy, invasive fungal disease
MeSH terms: COVID-19 Drug Treatment, COVID-19 / complications, Mucormycosis / complications, Mucormycosis / drug therapy, Pulmonary Aspergillosis, Case Reports, Antifungal Agents / therapeutic use, Humans, Immune Checkpoint Inhibitors / therapeutic use, Interferon-gamma / therapeutic use, Antifungal Agents, Immune Checkpoint Inhibitors, Interferon-gamma

Invasive fungal diseases (IFD) still cause substantial morbidity and mortality, and new therapeutic approaches are urgently needed. Recent data suggest a benefit of checkpoint inhibitors (ICI). We report the case of a diabetic patient with refractory IFD following a SARSCoV-2 infection treated by ICI and interferon-gamma associated with antifungal treatment.
Lichen Sclerosus Atrophicus [LSA] in the Areolae: A Case Report
Authors: L Padmavathy, L Lakshmana Rao, M Dhana Lakshmi, N Sylvester, N Ethirajan
Journal: Case Rep Dermatol Med (2012)

Lichen sclerosus (LS) is a chronic inflammatory disorder of an unknown aetiology most commonly affecting the anogenital area. However, extragenital involvement also occurs uncommonly. A case of extra-genital LS involving the areolae of both breasts, in a 15-year-old boy, is reported for its rarity.
IgE Plasma Cell Leukemia Harboring t(11;14) and 1q Amplification
Authors: Wataru Nakahara, Takahito Ogawa, Hitomi Matsunaga, Yuki Iwasa, Momoka Horita, Mako Ikeda, Mizuki Asako, Sadaharu Iio, Yuki Iwama, Kazumasa Oka, Shuji Ueda
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

IgE plasma cell neoplasm is the rarest subtype of plasma cell neoplasms and is known for its poor prognosis and high incidence of t(11;14). However, t(11;14) has been classified as a standard-risk rather than high-risk cytogenetic abnormality in multiple myeloma. We have been unable to explain the discrepancy that the hallmark of IgE plasma cell neoplasm with a poor prognosis is a standard-risk cytogenetic abnormality. Here, we report a case of IgE primary plasma cell leukemia with extramedullary lesions of the liver, stomach, and lymph nodes. Plasma cell infiltration was pathologically confirmed in each organ. Cytogenetic analysis of plasma cells revealed t(11;14) and amplification of 1q21. Chemotherapy, with immunomodulatory imide drugs, proteasome inhibitors, and CD38 antibodies, was unsuccessful. In IgE plasma cell neoplasm, coexistence of other cytogenetic abnormalities with t(11;14) may be important. Investigating the presence of cytogenetic abnormalities coexisting with t(11;14) is not only useful for evaluating prognosis but also important for understanding the pathogenesis of the disease. Recently, venetoclax, an oral BCL2 inhibitor, has demonstrated promising efficacy in plasma cell neoplasm patients harboring t(11;14). Development of an effective venetoclax-based regimen for treating aggressive IgE plasma cell neoplasm with t(11;14) is expected.
Fat grafting associated with negative pressure wound therapy
Authors: Gustavo Moreira Costa de Souza, Camila Camargos Bizzotto Amorim, Cristian Esteban Astudillo Vallejo, Marcelo Back Sternick, Sergio Moreira da Costa, Christiane Steponavicius Sobral, Lydia Masako Ferreira
Journal: Acta Cir Bras (2019)
MeSH terms: Adipose Tissue / transplantation, Negative-Pressure Wound Therapy / methods, Osteomyelitis / surgery, Wound Healing, Case Reports, Glass, Humans, Male, Middle Aged, Surgical Flaps, bioactive glass S53P4

Purpose:
To describe a case report of FG associated with NPWT in the treatment of complex wound on the distal third of the lower limb with bone exposure.
Case report:
A 59-year-old patient with chronic left tibial osteomyelitis since childhood underwent extensive debridement of the distal tibial diaphysis (40% of bone thickness per 10 cm extension) and placement of bioactive glass S53P4. Distal necrosis occurred in the fasciocutaneous flap used as the primary bone coverage. After flap debridement, the case was resolved with FG, directly on the exposed bone and biomaterial, associated with NPWT. Three weeks after the first FG session over bony tissue, 100% granulation was achieved with NPWT. The closure was completed with thin laminated skin graft over the granulated wound area.
Discussion:
The association of FG and NPWT is not known in the clinical practice. Except for the only one experimental study described by Kao et al.4, the theme was not addressed in the medical literature before. In this clinical case, the result obtained regarding the granulation tissue formation drew attention and prevented the use of more complex flaps such as the microsurgical ones. Accelerated granulation tissue formation was observed, filling an extensive and deep bone defect, even with infected bone and biomaterial. Low morbidity and no complications were observed with the use of FG associated with NPWT. When the grafted fat was compacted with the NPWT, it seemed to behave as a true autologous biological matrix with large amount of cells. To date, scientific studies on fat grafting have focused on the cellular aspect (adipocytes and mesenchymal cells), growth factors and fat differentiation in different tissues. The property of aspirated adipose tissue as a biological matrix seemed to be revealed by the application of NPWT in association with FG. This new roll for the aspirated fat tissue may represent a new research field in plastic surgery.
Potential therapeutic use of the ketogenic diet in autism spectrum disorders
Authors: Eleonora Napoli, Nadia Dueñas, Cecilia Giulivi
Journal: Front Pediatr (2014)
Keywords: autism spectrum disorders, bioenergetics, dietary intervention, epilepsy, ketogenic diet, mitochondria, oxidative stress
MeSH terms: Review

The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy. More recently, its use has been advocated in a number of neurological disorders prompting a newfound interest in its possible therapeutic use in autism spectrum disorders (ASD). One study and one case report indicated that children with ASD treated with a KGD showed decreased seizure frequencies and exhibited behavioral improvements (i.e., improved learning abilities and social skills). The KGD could benefit individuals with ASD affected with epileptic episodes as well as those with either PDH or mild respiratory chain (RC) complex deficiencies. Given that the mechanism of action of the KGD is not fully understood, caution should be exercised in ASD cases lacking a careful biochemical and metabolic characterization to avoid deleterious side effects or refractory outcomes.
Chromobacterium violaceum: A Rare Cause of Urinary Tract Infection
Authors: Ujjwal Laghu, Manami Yanagawa, Konosuke Morimoto, Bhim Gopal Dhoubhadel
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

A 41-year-old man with a neurogenic bladder due to spinal cord injury (SCI) attended the outpatient department with chief complaints of fever, pain in the lower abdomen, and persistent hematuria for 10 days. From the urine culture and the microbiological and biochemical tests, the causative organism was identified as Chromobacterium violaceum. The isolate was resistant to cephalosporins, while it was sensitive to ofloxacin, gentamicin, and imipenem. Clinicians should be aware of this rare cause of urinary tract infection (UTI), the choice of antibiotic, length of treatment, and necessity of prompt treatment in SCI patients.
Safe Administration of anti-PD-L1 Atezolizumab in a Patient with Metastatic Urothelial Cell Carcinoma and End-Stage Renal Disease on Dialysis
Authors: Alessandro Parisi, Alessio Cortellini, Katia Cannita, Melissa Bersanelli, Corrado Ficorella
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Anti-PD-L1 (programmed cell death-ligand 1) agents, such as atezolizumab, have been approved for the treatment of different advanced cancers. However, no study enrolled end-stage renal disease (ESRD) patients, and to our knowledge, there are no significant published data about safety and efficacy of PD-L1 inhibitors in this population. Here, we report the first case of a male patient with metastatic urothelial cell carcinoma and ESRD on dialysis, safely treated with atezolizumab.
Robotic modified radical hysterectomy with pelvic lymphadenectomy
Authors: A Maggioni, L Bocciolone, M Peiretti, F Landoni, V Zanagnolo, L Minig, G Roviglione, N Colombo
Journal: Ecancermedicalscience (2007)
MeSH terms: Case Reports

Radical hysterectomy, the complete removal of a woman's uterus, is usually performed via an abdominal incision that requires a 3-5 day hospital stay and a 6-8 week recovery period. Now, in a handful of hospitals around the world, new robotic technology allows doctors to perform this procedure through small incisions that require a recovery time of only one night in the hospital and a significantly shorter recovery period at home. Watch such a procedure being carried out at the European Institute of Oncology.
Acute fatty liver of pregnancy: a case report of an uncommon disease
Authors: Kalpana S Vora, Veena R Shah, Geeta P Parikh
Journal: Indian J Crit Care Med (2009)
MeSH terms: Case Reports

A 24-year-old female at 34-week gestation, presented with malaise, nausea, vomiting, jaundice, and absent foetal movements. A clinical diagnosis of acute fatty liver of pregnancy was made. Although early caesarean section was performed, postoperative course was complicated by acute respiratory distress syndrome (ARDS) sepsis, and continuing coagulopathy. Supportive management in an intensive care unit resulted in successful outcome.
Presence of anti-mitochondrial antibodies and elevated serum immunoglobulin G levels: is this primary biliary cirrhosis-autoimmune hepatitis overlap syndrome?
Authors: Najihan Abdul Samat Muttaqillah, Asrul Abdul Wahab, Chuan Hun Ding, Marlyn Mohammad, Suvra Biswas, Md Mostafizur Rahman
Journal: EXCLI J (2015)
Keywords: anti-mitochondrial antibody, anti-nuclear antibody, autoimmune hepatitis, overlap syndrome, primary biliary cirrhosis
MeSH terms: Case Reports

Primary biliary cirrhosis in combination with autoimmune hepatitis has been termed "overlap syndrome", but its diagnosis is challenging. We report a case of a 43-year-old lady who presented with a six-month history of jaundice and pruritus. She subsequently developed gum bleeds. Laboratory investigations revealed hypochromic microcytic anemia, abnormal coagulation profiles, elevated serum alanine transferase and alkaline phosphatase levels, and raised serum IgG and IgM levels. Her serum was also positive for anti-nuclear and anti-mitochondrial antibodies. The findings from her abdominal CT scan were suggestive of early liver cirrhosis and the histopathological examination results of her liver biopsy were consistent with primary biliary cirrhosis. The patient was treated with ursodeoxycholic acid and her liver function test parameters normalized after six months.