OpenMed/multicare-articles huggingface dataset:
Swiss Cheese Heart: A Tale of Multiple Valve Perforations
Authors: Hussam Al Hennawi, Shayan Iqbal Khan, Aamna Khan, Usama Sadiq, Sung-Hae Cho
Journal: Methodist Debakey Cardiovasc J (2024)
Keywords: gerbode defect, bicuspid aortic valve, infective endocarditis, intracardiac shunting, ventricular septal defect
MeSH terms: Bicuspid Aortic Valve Disease, Endocarditis / diagnostic imaging, Endocarditis / surgery, Heart Septal Defects, Ventricular, Case Reports, Health Status, Heart Atria, Humans

Gerbode defect, an anomalous connection between the left ventricle and right atrium, is often congenital but can be acquired or iatrogenically formed. We present an exceedingly rare case of this defect associated with multiple valve perforation in an otherwise healthy patient with bicuspid aortic valve and endocarditis.
Gas Forming Pyogenic Liver Abscess Diagnosed by Point of Care Ultrasound
Authors: Wei Ven Chin, Mae Jane Khaw
Journal: POCUS J (2024)
Keywords: bedside ultrasound, case report, gas-forming abscess, liver abscess, point of care ultrasound (pocus)
MeSH terms: Case Reports

Gas-forming pyogenic liver abscess (GFLPA) carries a high mortality rate. Early identification of the source of infection in sepsis results in better survival. Bedside point of care ultrasound (POCUS) can be used to help localize a source of infection. A 59-year-old man presented with systemic inflammatory response syndrome (SIRS) and was diagnosed with GFLPA on the initial encounter via clinical assessment and POCUS examination. After commencing antibiotics, optimal glucose control, adequate fluid resuscitation, and early infective source control, he achieved full recovery and was followed up in outpatient medical and surgical clinics. This case illustrates the role of POCUS as a diagnostic tool in sepsis and raises awareness among clinicians to recognize the features of GFLPA on POCUS.
Iatrogenic Left Ventricle Outflow Tract Ventricular Tachycardia Following Transcatheter Aortic Valve Replacement: A Case Series
Authors: Ahmed Hassaan Qavi, Aditi Naniwadekar, Neeraj N Shah
Journal: Methodist Debakey Cardiovasc J (2023)
Keywords: left ventricular outflow tract, transcatheter aortic valve replacement, ventricular tachycardia
MeSH terms: Aortic Valve Stenosis / diagnostic imaging, Aortic Valve Stenosis / etiology, Aortic Valve Stenosis / surgery, Tachycardia, Ventricular / diagnosis, Tachycardia, Ventricular / etiology, Transcatheter Aortic Valve Replacement / adverse effects, Case Reports, Aortic Valve / diagnostic imaging, Aortic Valve / surgery, Heart Ventricles / diagnostic imaging, Humans, Iatrogenic Disease, Treatment Outcome

Focal left ventricular outflow tract ventricular tachycardia (LVOT-VT) is rarely reported following transcatheter aortic valve replacement (TAVR). Similarly, unexplained sudden cardiac death after TAVR also is rarely described and may be attributed to VT. We present two cases of patients who underwent TAVR and later presented with VT of suggested LVOT origin. Both patients were treated with amiodarone for suppression of VT.
Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations
Authors: Dalal S Ali, Francesca Marini, Farah Alsarraf, Hatim Alalwani, Abdulrahman Alamri, Aliya A Khan, Maria Luisa Brandi
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: adh1, casr gene, autosomal dominant hypocalcemia, familial hypocalcemic hypercalciuria, gain of function mutation, hypoparathyroidism
MeSH terms: Gain of Function Mutation, Receptors, Calcium-Sensing / genetics, Systematic Review, Case Reports, Calcium, Mutation, Research, Receptors, Calcium-Sensing, Calcium, Hypercalciuric Hypocalcemia, Familial

Autosomal dominant hypocalcemia (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of parathyroid hormone. The disease is caused by a heterozygous activating mutation of the calcium-sensing receptor (CaSR) gene, encoding a G-Protein-coupled cell membrane sensor of extracellular calcium concentration mainly expressed by parathyroid glands, renal tubules, and the brain. ADH1 has been linked to 113 unique germline mutations, of which nearly 96% are missense mutations. There is often a lack of a clear genotype/phenotype correlation in the reported literature. Here, we described a case series of 6 unrelated ADH1 probands, each one bearing a gain-of-function CaSR mutation, and two children of one of these cases, matching our identified mutations to the same ones previously reported in the literature, and comparing the clinical and biochemical characteristics, as well as the complication profile. As a result of these genetic and clinical comparisons, we propose that a genotype/phenotype correlation may exist because our cases showed similar presentation, characteristics, and severity, with respect to published cases with the same or similar mutations. We also contend that the severity of the presentation is highly influenced by the specific CaSR variant. These findings, however, require further evaluation and assessment with a systematic review.
Case report: Intracoelomic neoplastic mass of undetermined origin in an Asia minor spur-thighed tortoise (Testudo graeca ibera)
Authors: Camille François, Clément Paillusseau, Stefano Bagatella, Francesco Origgi, Lionel Schilliger
Journal: Front Vet Sci (2023)
Keywords: testudo graeca ibera, case report, neoplasia, plastrotomy, spur-thighed tortoise
MeSH terms: Case Reports

This article describes the diagnostic, treatment and attempted characterization of a neoplasia of undetermined origin in a Asia minor spur-thighed tortoise. A 21-year-old male Asia minor spur-thighed tortoise (Testudo graeca ibera) was admitted for a 4-month history of diarrhea, and a 2-month history of anorexia and lethargy. Physical examination revealed a firm midcoelomic mass in the right prefemoral fossa. Blood biochemistry indicated hypocalcemia and mild elevation of aspartate aminotransferase. Supportive care was administered in the form of heating, baths, and calcium injections. Ultrasound examination of the coelomic cavity revealed a 6-cm diameter, highly vascularized mass with liver-like echogenicity. Neoplasia was suspected, and endoscopy was performed, revealing a brown circumscribed mass with smooth edges. Surgical removal of the mass was evaluated by CT scan and achieved via a plastrotomy; however, the patient died 1 day post-surgery. The mass was located on the dorsal right side of the coelomic cavity in the anatomic location of the right testicle. Histopathology revealed neoplastic cells organized in packets supported by fibrous septa. Neoplastic cells showed moderate and inconsistent positive immunohistochemical labeling for S100 and NSE, and negative immunohistochemical labeling for pan-cytokeratin, vimentin, CD3, CD79a, chromogranin A, and synaptophysin. The prominent histological and anatomical characteristics of the mass indicated a possible testicular or neuroendocrine (e.g., adrenal gland) origin. Due to inconclusive immunohistochemical profiles and poorly differentiated neoplastic cells, only a final diagnosis of intracoelomic malignant tumor of undetermined origin could be established. This case underscores the difficulties encountered in achieving definitive diagnoses of neoplastic diseases in reptile medicine.
First Case of Nocardia wallacei From India: A Case Report and Literature Review
Authors: Rahul Ranjan, Jayanthi Gunasekaran, Raunak Bir, Umesh Kumar, Rajiv M Gupta
Journal: Cureus (2024)
Keywords: amikacin, cotrimoxazole, fatal, first case, hiv, immunocompetent, immunosupressed, india, nocardia spp, nocardia wallacei
MeSH terms: Case Reports

Nocardia is a type of bacteria that can cause infections in both immunocompromised and immunocompetent hosts. It is an obligate aerobe and is commonly found in the environment. Pulmonary nocardiosis may present as pneumonia, endobronchial inflammatory masses, lung abscess, and cavitary disease with contiguous extension, leading to effusion and empyema. We present a case of pulmonary nocardiosis in a 75-year-old male patient with type 2 diabetes mellitus. The patient presented with bilateral pneumonia and hypoxia with an oxygen saturation of 85%. Sputum samples were sent to the microbiology laboratory for testing. Acid-fast staining with 1% H2SO4 showed acid-fast branching filamentous rods, but Nocardia could not be isolated in culture. The sample was subjected to 16S rRNA gene sequencing, which identified the pathogen as Nocardia wallacei. The culture of the sputum did not grow any pathogenic organisms, and the blood culture was sterile. Unfortunately, the patient left the hospital against medical advice as he was advised for intubation. The patient could not survive and died the next day after leaving the hospital. N. wallacei can be fatal and cause disseminated infection in both immunosuppressed and immunocompetent patients. Only eight case reports of N. wallacei have been reported in the literature from various parts of the world. Our case is the first case report of N. wallacei from India.
Growth Modification of Developing Class II Division 1 Malocclusion Using Myofunctional Appliances
Authors: Ananto Ali Alhasyimi, Iman Syahfik
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Background and Overview. Interceptive orthodontics is a phase of orthodontics that identifies and corrects potential malocclusions in the growing dentofacial complex. At this point, myofunctional appliances are a necessary component. A 9-year-old girl appeared with a Class II division 1, a 6 mm overjet, a 6 mm overbite, a V-shaped maxillary arch, as well as lip hypertonicity, and an overdeveloped maxilla. Myobrace® combines the dental alignment abilities of rigid and soft appliances. Its structure replicates a fixed appliance: the soft outer part acts as the orthodontic wire, whereas the inner hard part engages the teeth individually. After 12 months of treatment, facial photos and a cephalogram were taken, both of which demonstrated an enhancement to the patient's facial profile. Conclusions and Practical Implications. This case demonstrates that Myobrace® may be a simple and good choice to treat skeletal malocclusion with oral habit because of its greater compliance and favorable results. In certain instances, an early approach, taking into account patient preferences and compliance, is practical and should be considered in future treatment planning and research.
Retinal Toxicity after Initial Administration of Nivolumab and Ipilimumab
Authors: Adnan Kilani, Efstathios Vounotrypidis, Susanna F König, Armin Wolf
Journal: Case Rep Ophthalmol Med (2023)
MeSH terms: Case Reports

Background:
To present a rare case of a bilateral immune checkpoint inhibitor- (ICI-) induced photoreceptor injury with a bacillary layer detachment (BALAD) and a dissection of the photoreceptor inner and outer segment, accompanied by ICI-induced Vogt-Koyanagi-Harada- (VKH-) like uveitis after initial administration of nivolumab and ipilimumab. Case Presentation. A 52-year-old female with metastatic malignant cutaneous melanoma experiencing bilateral progressive visual acuity reduction, after treatment initiation with 1 mg/kg nivolumab and 3 mg/kg ipilimumab two weeks prior symptom onset. An extensive laboratory workup, including uveitis workup, onconeuronal and retinal antibodies, ruled out a paraneoplastic autoimmune disorder and a granulomatous disease. Furthermore, a B-scan was performed to exclude a posterior scleritis. Ensuing temporary treatment discontinuation of nivolumab and complete discontinuation of ipilimumab, treatment with high-dose systemic steroids was initiated, which resulted in alleviation of her symptoms and stability of ocular findings.
Conclusions:
ICIs can induce significant ocular side effects. As ocular inflammation can be well controlled using systemic steroids, treatment with ICIs can be continued whenever possible, in particular, if there is a good treatment response of the systemic malignancy.
Resection of a pure androgen secreting adrenal adenoma in a postmenopausal woman: a case report
Authors: Ahmad Dalal, Abdallah Dwayat, Natalie Khamashta, Mo'men Alashwas, Tariq Asi
Journal: J Surg Case Rep (2024)
Keywords: pasat, adrenal adenoma, postmenopausal hyperandrogenism, pure androgen secreting adrenal tumor, virilizing tumor
MeSH terms: Case Reports

Pure androgen secreting adrenal tumors are exceedingly rare, presenting in higher numbers in women compared with men, and are particularly rare in women of postmenopausal age. Postmenopausal hyperandrogenism is usually ovarian or adrenal in origin, with tumors representing an uncommon cause, which are more frequently ovarian but could also be adrenal. Herein we present a case of a 61-year-old postmenopausal woman, who had suffered multiple reproductive disturbances, presenting with a 10-year history of virilizing symptoms, most bothersome of which was generalized hirsutism, alongside clitoromegaly, irritability, and voice deepening. Work-up of the patient revealed a 1.5 cm left adrenal mass, which was removed through laparoscopic total adrenalectomy. Postoperatively, the patient's androgen levels dropped significantly. An adrenal androgen secreting tumor is a can't miss diagnosis that should always be considered in the evaluation of postmenopausal women with hyperandrogenism, alongside the more common etiologies. Regular hormonal follow-up is essential.
A Rare Case of a Subgaleal Hematoma With Global Developmental Delay, Scurvy, and Congenital Toxoplasmosis, Rubella, Cytomegalovirus, Herpes Simplex, and HIV (TORCH) Infection
Authors: Ankita Patel, Jayant D Vagha, Revat J Meshram, Rahul Khandelwal
Journal: Cureus (2024)
Keywords: congenital torch infection, global developmental delay, interdisciplinary management, pediatric neurology, scurvy, subgaleal hematoma
MeSH terms: Case Reports

This case report details the complex presentation of a six-year-old female child with global developmental delay (GDD), scurvy, congenital toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and HIV (TORCH) infection and a subgaleal hematoma. The patient's medical history included delayed developmental milestones, bilateral congenital cataract, and a previous generalized tonic-clonic seizure. Thorough investigations revealed cerebral atrophy, bilateral ventricular dilatation, and periosteal thinning consistent with scurvy. The interdisciplinary approach involving neurology, ophthalmology, and orthopedics resolved the subgaleal hematoma. This case underscores the intricate interplay of neurological, nutritional, and infectious factors in pediatric conditions and highlights the importance of a collaborative, multidisciplinary approach for accurate diagnosis and effective management.
Case Report: C3 deficiency in two siblings
Authors: Agustín Bernacchia, Alejandra Ginaca, Sabrina Rotondo, María Pilar Tejada, Daniela Di Giovanni
Journal: Front Pediatr (2024)
Keywords: b-lymphocyte subsets, c3 deficiency, complement system, intravenous immunoglobulin, recurrent infections
MeSH terms: Case Reports

The complement system, a vital component of innate immunity, consists of various proteins and pathways crucial for the recognition and elimination of pathogens. In addition, it plays a major role in the initiation of adaptive response through the opsonization of antigens, contributing to B-cell activation and memory maintenance. Deficiencies in complement proteins, particularly C3, can lead to severe and recurrent infections as well as immune complex disorders. Here, we present a case report of two siblings with total C3 deficiency resulting from compound heterozygous mutations in C3 (NM_000064.4): c.305dup; [p.Asn103GlnfsTer66] and c.1269 + 5G>T, previously unreported in C3-related diseases. Both, the index case and her sister, presented a history of recurrent infections since early childhood and one of them developed hemolytic uremic syndrome (HUS). Immunological evaluation revealed absent plasma C3 levels, decreased memory B cells, hypogammaglobulinemia, and impaired response to polysaccharide antigens. The siblings showed partial responses to antimicrobial prophylaxis and vaccination, requiring intravenous immunoglobulin replacement therapy, resulting in clinical improvement. Genetic analysis identified additional risk polymorphisms associated with atypical HUS. This case highlights the importance of comprehensive genetic and immunological evaluations in complement deficiencies, along with the potential role of immunoglobulin replacement therapy in managing associated antibody defects.
Analysis of brain activity for speech stimuli and child development of an infant with neurosyphilis: case report
Authors: Isabelle Costa de Vasconcelos, Thalita da Silva Oliveira, Ana Beatriz Santos, Mylena Taise Azevedo Lima, Joseli Soares Brazorotto, Aryelly Dayane da Silva Nunes Araujo, Edgard Morya, Sheila Andreoli Balen
Journal: Codas (2024)
MeSH terms: Neurosyphilis / complications, Neurosyphilis / diagnosis, Neurosyphilis / physiopathology, Spectroscopy, Near-Infrared, Case Reports, Brain / diagnostic imaging, Brain / physiopathology, Child Development / physiology, Female, Humans, Infant

Neurosyphilis is an infection of the central nervous system caused by Treponema pallidum and may be symptomatic or asymptomatic in children with congenital syphilis. This study aims to describe the cortical activation pattern of a four-month-old infant with neurosyphilis using functional near-infrared spectroscopy (fNIRS). Born at term weighing 3,475 kg, she presented a Venereal Disease Research Laboratory (VDRL) test of 1:32 and changes in the cerebrospinal fluid test. She underwent treatment with crystalline penicillin for 10 days before discharge from the hospital. In the audiological evaluation, she presented normal tympanometry, otoacoustic emissions evoked by transient stimulus, brainstem auditory evoked potential with click stimulus at 80 and 30 dB nHL bilaterally. The Bayley III Scale was applied to assess language, cognition and motor development, showing delays in expressive language and broad motor skills. In the fNIRS acquisition, data were collected through 20 channels divided between the cerebral hemispheres. The /ba/ and /da/ stimuli were presented at 40 dB HL with the Psychopy software through a headphone. Data analysis used the MNE and MNE-NIRS toolboxes in the Spyder environment. The average by channel, ROI, and condition was exported for analysis. A similar theta coefficient was observed between the conditions and channels evaluated in both cerebral hemispheres, with a greater amplitude of oxyhemoglobin (HbO) being observed in the anterior position when compared to the posterior region of the temporal lobe. Therefore, this case report highlights the need to monitor the child development of babies with neurosyphilis.
Severe flea-borne typhus complicated by hemophagocytic lymphohistiocytosis: A case report and review of literature
Authors: Rolando A Zamora Gonzalez, Mark S Mayo, Arthur C Jeng
Journal: IDCases (2024)
Keywords: flea-borne typhus, hemophagocytic lymphohistiocytosis
MeSH terms: Case Reports

Flea-borne typhus (FBT), also known as murine typhus, is a zoonotic infection caused by R. typhi with world-wide distribution. In the United States, the infection is uncommon but remains endemic in some areas, including Los Angeles County. It typically manifests as a benign acute febrile illness but can be complicated in a minority of cases. Associated hemophagocytic lymphohistiocytosis (HLH) has been described in a limited number of cases. Here, we present a case of a patient with FBT complicated by HLH treated empirically with doxycycline with subsequent resolution of HLH. Also included is a review of the literature of other published cases.
Surgery after combination therapy with a tyrosine kinase inhibitor and anti-PD-1 antibody in sarcomatoid hepatocellular carcinoma: case report and literature review
Authors: Bin Liang, Tao Huang, Shao-Lei Kuang, Guang-Yuan Xie, Tian-Qi Liu, Yuan-Yuan Chen
Journal: Front Oncol (2023)
Keywords: anti-pd-1 antibody, anti-angiogenic therapy, combination therapy, sarcomatoid hepatocellular carcinoma, surgery
MeSH terms: Case Reports

Introduction:
Although surgery is the preferred treatment for sarcomatoid hepatocellular carcinoma (SHC), the prognosis remains considerably poor due to early postoperative recurrence and metastasis. Reports on surgery after combined treatment with a tyrosine kinase inhibitor and anti-programmed cell death (PD)-1 antibody are unavailable.
Case presentation:
A 69-year-old male patient with SHC was admitted to our hospital for treatment of a liver tumor that was detected on ultrasonography. Abdominal computed tomography with triple-phase enhancement revealed a lesion in the right hepatic lobe that measured 86.0 mm × 75.0 mm × 71.0 mm. Biopsy revealed a pathological diagnosis of liver sarcoma or sarcomatoid carcinoma. The patient subsequently received transcatheter arterial chemo-embolization, as he did not consent to surgery. More than two months later, he received a combination of lenvatinib with camrelizumab, as computed tomography showed an increase in the lesion size (to 123.0 mm × 90.0 mm × 80.0 mm) and lateral growth posterior to the upper pole of the right kidney. Liver resection was performed after 6 months of systemic therapy; pathological examination confirmed a diagnosis of SHC and showed extensive necrosis of tumor cells. Combined treatment with lenvatinib and camrelizumab was continued for 6 months after surgery. The patient has survived for over 24 months after initial diagnosis and is currently tumor-free.
Conclusion:
Combined systemic therapy with a tyrosine kinase inhibitor and anti-PD-1 antibody may represent a feasible treatment strategy for improving resectability in cases of unresectable SHC. The outcomes with this combination may also be explored in cases of resectable SHC that have a high-risk of recurrence; this may improve the therapeutic effect.
Case Report: Case series: association between blood concentration and side effects of sotorasib
Authors: Ryota Shigaki, Ryohei Yoshida, Akari Yagita, Kazunori Nagasue, Taeka Naraoka, Kiichi Nitanai, Hiraku Yanada, Toshiyuki Tenma, Ryotaro Kida, Yasuhiro Umekage, Chie Mori, Yoshinori Minami, Hideki Sato, Kuninori Iwayama, Yasuhisa Hashino, Masahide Fukudo, Takaaki Sasaki
Journal: Front Oncol (2023)
Keywords: kirsten rat sarcoma viral oncogene homologue, blood level, patients, side effect, sotorasib
MeSH terms: Case Reports

Introduction:
Sotorasib is a crucial therapeutic agent for patients with non-small cell lung cancer (NSCLC) harboring the KRAS p.G12C mutation. Despite its efficacy, the relationship between blood sotorasib concentrations and side effects remains largely unexplored.
Methods:
This study enrolled five patients with KRAS p.G12C-positive NSCLC treated with sotorasib (LUMAKRAS® Tablets, Amgen, Japan) between July 2022 and February 2023 at Asahikawa Medical University Hospital. Blood sotorasib levels were monitored, and their association with adverse events was examined, with no adjustments made to drug dosages based on these levels.
Results:
Variable blood sotorasib levels were observed among the participants. Notably, one patient developed interstitial pneumonitis, although a definitive attribution to sotorasib was uncertain due to prior pembrolizumab treatment. The study revealed no consistent association between blood sotorasib levels and adverse events or therapeutic outcomes, with some patients experiencing severe side effects at higher concentrations, while others did not.
Conclusion:
Preliminary findings suggested that monitoring blood sotorasib levels may aid in anticipating adverse events in this small cohort. However, future studies with larger sample sizes and extended follow-up periods are required to validate these initial observations. Such studies could potentially offer insights into personalized dosing strategies, thereby mitigating adverse effects and enhance patient care for individuals with KRAS p.G12C-positive NSCLC.