OpenMed/multicare-articles huggingface dataset:
New-Onset Focal Task Specific Oromandibular Dystonia in Association with Quran Recitation: A Case Series
Authors: Jasem Youssef Al-Hashel, Doaa Youssry Soliman, Ismail Ibrahim Ismail
Journal: Tremor Other Hyperkinet Mov (N Y) (2024)
Keywords: focal task-specific dystonia, quran, oromandibular dystonia
MeSH terms: Blepharospasm, Dystonia / drug therapy, Dystonic Disorders / drug therapy, Female, Humans, Male, Middle Aged, Dystonia, Focal, Task-Specific

Background:
Focal task-specific dystonia is a form of isolated focal dystonia that occurs during the performance of a specific skilled motor task. The occurrence of oromandibular dystonia (OMD) specifically in association with the recitation of Quranic verses have been rarely reported in the literature, in non-native Arabic-speaking patients. This case series describe a rare type of focal task-specific dystonia that occurs exclusively by reciting Quran in native Arabic-speaking patients, which has never been reported, to the best of our knowledge.
Methods:
In this case series, we identified five patients with new-onset OMD that was exclusively induced by reciting Quran. Cases were evaluated in our Movement Disorders outpatient clinic at Ibn Sina hospital; the main tertiary neurology center in Kuwait, between 2015 and 2023.
Results:
Five cases (3 males, 2 females) were identified in this study. Mean age of onset of the symptoms was 52.3 ± 4.1 years, while the median duration of the symptoms prior to diagnosis was 3 years. All patients were native Arab-speaking, with no previous history of other types of dystonia. No identifiable risk factors could be obtained including exposure to dopamine blocking agents or antipsychotics, or history of oral or dental surgery. Patients underwent a full clinical, laboratory, and radiological evaluation. All patients had OMD dystonia in varying forms and severity, while two patients had additional spasmodic dysphonia/ blepharospasm on progressive recitation. Most patients had minimal improvement with combination of oral medications and speech therapy. Four patients received botulinum toxin injections with better results.
Discussion:
The mental and physical stress in attempting to recite the Quranic verses could have contributed to the development of OMD. Moreover, the increased demand on the muscles of the jaw, lips, and tongue during recitation can trigger the dystonic symptoms.
Highlights:
OMD exclusively during Quran recitation is a rare phenomenon, and expands the spectrum of task-specific focal dystonia described in the literature. It was found to be distressing to the patients and a challenge to treat. Prompt recognition could minimize unnecessary testing and procedures, and facilitate earlier treatment.
Two cases of parathyroid carcinoma associated with multiple brown tumours
Authors: Akihiro Sakai, Toshihide Inagi, Hiroaki Iijima, Koji Ebisumoto, Kenji Okami
Journal: BJR Case Rep (2023)
Keywords: bone metastasis, multiple brown tumours, parathyroid carcinoma
MeSH terms: Case Reports

We present two rare cases of parathyroid carcinomas associated with multiple brown tumours. Plain radiographs, computed tomography, and neck ultrasonography revealed the presence of bone and parathyroid tumours. Despite the use of 99m Tc-methoxy isobutyl isonitrile (99mTc-MIBI) or 18F-fluorodeoxyglucose-positron emission tomography (18F-FDG PET)/CT, it was difficult to differentiate bone metastases from brown tumours. Parathyroid carcinoma was confirmed by histopathological examination following parathyroidectomy, resulting in spontaneous bone lesion improvement. In patients with parathyroid carcinoma presenting with bone lesions suggestive of metastasis, understanding the potential for brown tumour accumulation through 99mTc-MIBI or 18F-FDG PET/CT is pivotal. With this understanding, it is possible to diagnose brown tumours with parathyroidectomy and follow up for improvement of bone lesion and avoid invasive biopsy or surgery.
Progress in diagnosing and treating thyroid squamous cell carcinoma under the 5th edition of WHO classification
Authors: Wei Ding, Xiaofan Gao, Xuan Ran
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: anaplastic thyroid carcinoma, primary squamous cell carcinoma, secondary squamous cell carcinoma, squamous cell carcinoma, thyroid
MeSH terms: Carcinoma, Squamous Cell / diagnosis, Carcinoma, Squamous Cell / pathology, Carcinoma, Squamous Cell / therapy, Thyroid Neoplasms / diagnosis, Thyroid Neoplasms / pathology, Thyroid Neoplasms / therapy, Review, Research Support, Non-U.S. Gov't, Diagnosis, Differential, Humans, World Health Organization

Squamous cell carcinoma of the thyroid (SCCT) is a rare thyroid gland malignancy, with only a few hundred cases reported in the literature, mostly as case reports or small sample studies. In the previous WHO classification, squamous cell carcinoma of the thyroid was defined as a carcinoma composed entirely of squamous cells without differentiated carcinoma components. It was once included in the WHO tumor classification separately. However, the 2022 WHO classification of squamous cell carcinoma of the thyroid was reclassified as a morphologic subtype of anaplastic thyroid carcinoma (ATC). The squamous cell carcinoma pattern is similar to the other histologic types of ATC, but the phenotype associated has a poorer prognosis. The typical clinical manifestation of this condition is a cervical mass, accompanied by indications and symptoms of compression on adjacent structures such as the esophagus and trachea in advanced stages. Secondary squamous cell carcinoma of the thyroid may occur due to the spread of squamous carcinoma of the larynx or esophagus or distant metastases from other sites. Diagnosis of squamous cell carcinoma of the thyroid includes neck Ultrasound (US), Computed Tomography (CT) or Magnetic Resonance Imaging (MRI), puncture tissue biopsy, and full endoscopy to identify metastatic lesions from the nasopharynx, oropharynx, hypopharynx, larynx, esophagus, or bronchi and to help with the initial staging of the tumor. Current treatment modalities include surgery, radiotherapy, chemotherapy, or a combination. Because of the poor prognosis of patients with this disease, the short survival period, usually less than one year, and the difficulty of preoperative diagnosis, this article reviews the epidemiological features, origin, clinical features, pathological features, and differential diagnosis to improve the diagnosis and treatment of this disease by clinicians.
Recurrent high creatine kinase levels under clozapine treatment - a case report assessing a suspected adverse drug reaction
Authors: Florine M Wiss, Samuel S Allemann, Henriette E Meyer Zu Schwabedissen, Céline K Stäuble, Thorsten Mikoteit, Markus L Lampert
Journal: Front Psychiatry (2024)
Keywords: cyp2d6, cyp3a5, adherence, adverse drug reaction, clozapine, pharmacogenetic, therapeutic drug monitoring
MeSH terms: Case Reports

Suspected adverse drug reactions (ADRs) during treatment with clozapine often prompt therapeutic drug monitoring (TDM) in clinical practice. Currently, there is no official recommendation for pharmacogenetic (PGx) testing in the context of clozapine therapy. In this case report, we demonstrate and discuss the challenges of interpreting PGx and TDM results highlighting the possibilities and limitations of both analytical methods. A 36-year-old male patient with catatonic schizophrenia was treated with clozapine. He experienced multiple hospitalizations due to elevated creatine kinase (CK) levels (up to 9000 U/L, reference range: 30-200 U/L). With no other medical explanation found, physicians suspected clozapine-induced ADRs. However, plasma levels of clozapine were consistently low or subtherapeutic upon admission, prompting us to conduct a PGx analysis and retrospectively review the patient's TDM data, progress notes, and discharge reports. We investigated two possible hypotheses to explain the symptoms despite low clozapine plasma levels: Hypothesis i. suggested the formation and accumulation of a reactive intermediate metabolite due to increased activity in cytochrome P450 3A5 and reduced activity in glutathione S-transferases 1, leading to myotoxicity. Hypothesis ii. proposed under-treatment with clozapine, resulting in ineffective clozapine levels, leading to a rebound effect with increased catatonic symptoms and CK levels. After considering both data sources (PGx and TDM), hypothesis ii. appeared more plausible. By comprehensively assessing all available TDM measurements and examining them in temporal correlation with the drug dose and clinical symptoms, we observed that CK levels normalized when clozapine plasma levels were raised to the therapeutic range. This was achieved through hospitalization and closely monitored clozapine intake. Therefore, we concluded that the symptoms were not an ADR due to altered clozapine metabolism but rather the result of under-treatment. Interpreting TDM and PGx results requires caution. Relying solely on isolated PGx or single TDM values can result in misinterpretation of drug reactions. We recommend considering the comprehensive patient history, including treatment, dosages, laboratory values, clinic visits, and medication adherence.
Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies
Authors: Min Xie, Jiangyang Xue, Yuxin Zhang, Ying Zhou, Qi Yu, Haibo Li, Qiong Li
Journal: Front Genet (2023)
Keywords: case report, cryptic balanced translocation, multiple anomalies, optical genome mapping, unbalanced chromosomal rearrangements
MeSH terms: Case Reports

Background: Balanced translocation (BT) carriers can produce imbalanced gametes and experience recurrent spontaneous abortions (RSAs) and even give birth to a child with complex chromosomal disorders. Here, we report a cryptic BT, t(5; 6) (p15.31; p25.1), in the proband's grandmother, which caused unbalanced chromosomal rearrangements and various anomalies in the two subsequent generations. We also provide a thorough overview of the application of optical genome mapping (OGM) to identify chromosomal structural variants (SVs). Methods: Trio-based whole exome sequencing (Trio-WES) was conducted to explore the genetic basis of the phenotype of the proband and her mother. High-resolution karyotype analysis and OGM detection were performed on the proband's grandparents to trace the origin of the unbalanced rearrangements between chromosomes 5 and 6. A PubMed search was conducted with the following keywords: "OGM" and "SVs." Then, relevant studies were collected and systematically reviewed. Results: The proband and her mother presented with various anomalies, whereas the grandmother was healthy but had a history of four abnormal pregnancies. Trio-WES revealed a heterozygous duplication on the terminal region of chromosome 5p and a heterozygous deletion on the proximal end of chromosome 6p in the proband and her mother. High-resolution karyotype analysis revealed no aberrant karyotypes in either grandparent, whereas OGM detection revealed a cryptic BT, t(5; 6)(p15.31; p25.1), in the proband's grandmother. An overwhelming majority of research publications have verified the clinical utility of OGM in detecting SVs. Conclusion: The results of this study revealed that the unbalanced chromosomal rearrangements and many anomalies observed in multiple members of the family were attributable to the cryptic BT carried by the proband's grandmother. This study supports that OGM has a unique advantage for detecting cryptic BTs, and can be used as a first-tier genetic test for the etiological diagnosis of infertility, RSAs, and other complex genetic disorders.
Duplication of the transverse colon in adults: a case report and literature review
Authors: Xiaochun Zhang, Guangci Di, Wei Cheng, Cuizhong Wang, Guanwen Gong, Zhiwei Jiang
Journal: Front Oncol (2023)
Keywords: abdominal pain, adult, duplication of deformity, space-occupying lesion, surgical resection, transverse colon
MeSH terms: Case Reports

Background:
Duplication of the transverse colon is a rare gastrointestinal malformation. Its pathogenesis is still unclear, and it is extremely rare in adults. Patients often present with symptoms of tumor compression such as abdominal mass, abdominal pain, and constipation as the first manifestation.
Methods and result:
A patient with a duplication of the transverse colon was admitted to the Department of General Surgery of our hospital. Laparoscopic exploration found a mass at the rear of the transverse colon near the splenic flexure, and the root was connected to the middle portion of the transverse colon.
Conclusion:
Surgery is a radical treatment and reduces the possibility of perforation, bleeding, obstruction, and cancer.
Left bundle branch pacing in third-degree atrioventricular block following morrow surgery: a case report
Authors: Keqiang Huang, Hongmei Gan, Jingjing Jiang, Cheng Tang
Journal: Front Cardiovasc Med (2024)
Keywords: left bundle area pacing, left bundle block, morrow, pacemaker, septal myectomy
MeSH terms: Case Reports

Left bundle branch pacing (LBBP) has proven to be an alternative method for delivering physiological pacing to achieve electrical synchrony of the left ventricle (LV), especially in patients with atrioventricular block and left bundle branch block (LBBB). However, it is unclear whether it still achieved in patients whose left bundle branch (LBB) has had surgery-induced damage. The Morrow operation (Morrow septal myectomy) is regarded as one of the most effective treatments for hypertrophic obstructive cardiomyopathy (HOCM). The surgery resects small sections of muscle tissue in the proximal ventricular septum nearby or contains the LBB, which means that physical damage to the LBB is almost inevitable. Approximately 2%-12% of patients may need pacemaker implanted after Morrow surgery. LBBP is a feasible and effective method for achieving electric resynchronization of LBBB compared to right ventricular pacing (RVB). Nevertheless, there is a dearth of data on LBBP in third-degree atrioventricular block (AVB) following Morrow surgery. We report a case of successful LBBP in those patients.
Neglected extensive Aspergillus osteomyelitis of the pelvis, femur, and vertebra in an immunocompetent patient: A case report
Authors: Roop Singh, Anas Delair, Svareen Kaur, Monika Gupta
Journal: Qatar Med J (2023)
Keywords: aspergillosis, antifungal, femur, osteomyelitis

De novo Aspergillus infections of the appendicular skeleton are rare. A 72-year-old female presented with pain and deformity in her left lower limb and an inability to bear weight that had persisted for the last six months. A femur biopsy confirmed the diagnosis of extensive Aspergillus osteomyelitis, and the patient was treated with amphotericin B and oral voriconazole. The patient died of COVID-19 after 2.5 months of treatment. A diagnosis of Aspergillus osteomyelitis may be delayed because of its varied clinical presentation. To the best of our knowledge, this is the first known case of de novo neglected and extensive (multisite, multibone) Aspergillus osteomyelitis in an immunocompetent patient. This case highlights the importance of awareness in patients and treating physicians of this rare infection and its early diagnosis to prevent extensive spread.
Case Report: Cutaneous melanocytic schwannoma with concomitant melanocytoma in a canine
Authors: Olwam H Monakali, Nicolize O'Dell, Louise van der Weyden
Journal: Wellcome Open Res (2024)
Keywords: schwannoma, dog, melanin, melanocytoma, melanoma, neoplasm, verocay body
MeSH terms: Case Reports

Schwannoma is a nerve sheath tumour arising from differentiated Schwann cells, and melanocytic schwannoma (MS) is a rare variant where the Schwan cells produce melanin pigment. MS is typically associated with spinal nerve roots and there have been only ~20 reports of cutaneous or subcutaneous MS to-date in humans. In canines, there have only been two reports of MS, both associated with spinal root nerves. In this report, we describe a 7-year-old Weimaraner cross breed dog that presented with two pigmented lesions on the eyelids. The lesions were surgically removed and histological analysis revealed well-circumscribed, non-encapsulated, expansile, neoplasms that were displacing most of the dermis and adnexa. The first lesion was composed of spindloid cells arranged in short interlacing streams with large amounts of pale eosinophilic cytoplasm that sometimes contained fine melanin granules. In areas there were spindle cells arranged in verocay bodies which led to a diagnosis of MS. In contrast, the second lesion was composed of polygonal cells arranged in thick sheets with large amounts of pale eosinophilic cytoplasm that sometimes contained fine melanin granules. The diagnosis was melanocytoma (which is one of the macroscopic differential diagnoses for MS). Whilst melanocytoma is a commonly occurring cutaneous lesion in canines and surgical removal is considered curative, due to little being known about MS in dogs, the outcome remained guarded, as MS in humans has an unpredictable nature, and recurrence and metastasis have been reported.
Chronic Appendicitis: Possible Differential Diagnosis in Patients with Chronic Abdominal Pain
Authors: Iva Ljubas, Ivana Jurca, Dora Grgić
Journal: Case Rep Surg (2024)
MeSH terms: Case Reports

In the emergency department, patients frequently present with abdominal pain, with a variety of different causes ranging from intra-abdominal to extra-abdominal and retroperitoneal pathologies which can affect all age groups. Chronic appendicitis is a rare medical condition characterized by less severe and continuous abdominal pain and a clinical picture lasting longer than 1-2 days and extending over months, even years, and it is not always possible to consider it as a preliminary diagnosis. We represent a case report of chronic appendicitis where the patient's clinical picture led the diagnostics and treatment in different directions and delayed the diagnosis. Namely, our patient was radiologically diagnosed with a collection of denser content retroperitoneally in the right lower quadrant of the abdomen, which in the first place was not related to possible appendicitis, regarding complaints. The existence of chronic appendicitis is a diagnosis unfamiliar to many clinicians and has no official diagnostic criteria. After diagnosis, treatment usually begins with antibiotics, and the next most common step is surgery. The optimal treatment for this condition is unknown. With this case report, we wish to draw attention to chronic appendicitis as a possible differential diagnosis in patients with chronic abdominal pain.
Oral Squamous Cell Carcinoma: Features and Medico-Legal Implications of Diagnostic Omission
Authors: Davide Albano, Antonina Argo, Giuseppa Bilello, Enzo Cumbo, Melania Lupatelli, Pietro Messina, Fabio Massimo Sciarra, Mario Sessa, Stefania Zerbo, Giuseppe Alessandro Scardina
Journal: Case Rep Dent (2024)
Keywords: diagnostic delay, diagnostic omission, litigation, malpractice, medico-legal issues, oral squamous cell carcinoma (oscc)
MeSH terms: Case Reports

Early diagnosis of oncologic pathologies has a crucial role to determine patient's prognosis and therapeutic path. Nonetheless, clinical errors and omissions that can occur during diagnostic, as well as detection of preneoplastic or neoplastic condition, may result in devasting consequences both for patients in terms of health and for professionals in terms of medico-legal responsibility. This study is aimed at examining in depth, through the presentation of a specific clinical case, the medico-legal aspects inherent to the diagnosis of oral cancer, analyzing the preventive, interceptive, and diagnostic strategies, the legal implications of clinical evaluation errors and diagnostic omission, and the type of medical damage produced and professional liability. The medico-legal landscape surrounding oral squamous cell carcinoma is multifaceted and characterized by diagnostic challenges, treatment complexities, and legal considerations. Health-care providers must remain vigilant in navigating these complexities to ensure optimal patient care while mitigating legal risks. By prioritizing high-quality medical records, fostering transparent communication with patients, and implementing preventive strategies, health-care institutions can strive to minimize the incidence of litigation and uphold standards of ethical practice in oral carcinoma cases. Additionally, continued research and education in forensic and legal medicine are essential in informing evidence-based practices and promoting patient safety in this evolving field.
Case report: Successful treatment of renal-limited thrombotic microangiopathy secondary to chronic lymphocytic leukemia
Authors: Kristina Nasr, Sabine Karam, Marshall Mazepa, Jan Czyzyk, Nattawat Klomjit
Journal: Front Nephrol (2024)
Keywords: cll, tma, chronic lymphocytic leukemia, nephrotic syndrome, thrombotic microangiopathy
MeSH terms: Case Reports

Thrombotic microangiopathy (TMA) is a rare renal complication of patients with chronic lymphocytic leukemia (CLL) and is often associated with peripheral features. We present the first case of CLL patients with renal-limited TMA. A 70-year-old female patient with a history of well-controlled type 2 diabetes and baseline albuminuria of 87.2 mg/g 1 year prior and CLL was on active surveillance only. Her baseline white blood cell (WBC) was 202.6 x 103/µl. She presented with nephrotic syndrome with proteinuria of 10 g/g and a subsequent unremarkable serologic work-up. A kidney biopsy revealed diabetic glomerulosclerosis and chronic TMA. Initially, she was treated conservatively with angiotensin receptor blockade and sodium glucose cotransporter-2 inhibition but progressed with increased proteinuria of 17 g/g. Complement functional panel testing was pursued and showed dysregulation of the classical and alternative complement pathways. We decided to treat CLL which was suspected to be the culprit. At 9 months post-ibrutinib initiation, there was a 90% reduction in the WBC as well as a 94% reduction in proteinuria (17 g/g to 0.97 g/g). This case emphasizes the role of complement dysregulation in the pathogenesis of TMA in CLL patients. Treatment of CLL can restore complement dysregulation and improve renal outcomes.
Case report: Life threatening hyponatremia in infants with urinary tract infections: two cases of type III pseudohypoaldosteronism and review of the literature
Authors: Cécile Carl, Lars Dinkelbach, Julia Mohr, Ruy Perez, Tobias Vera Lopez, Susanne Fricke-Otto, Tim Niehues
Journal: Front Pediatr (2024)
Keywords: congenital anomalies of the kidney and urinary tract, hydronephrosis, hyperkalemia, hyponatremia, pseudohypoaldosteronism, urinary tract infections
MeSH terms: Case Reports

We describe two female infants at the age of five and six months with urinary tract infections presenting with vomiting and reduced drinking behavior. On laboratory analysis, severe hyponatremia (106 mmol/L and 109 mmol/L) was seen with hyperkalemia and compensated metabolic acidosis. Endocrinological analyses revealed massively increased levels of aldosterone and renin, leading to the diagnosis of type III pseudohypoaldosteronism (PHA). A review of the current literature 2013-2023 revealed 26 type III PHA cases aged up to ten months with reduced drinking behavior, weight loss and/or failure to thrive being the most common clinical presentations. Given the severe presentation of PHA electrolyte measurements in infants with urinary tract infections and/or in infants with congenital anomalies of the kidney and urinary tract (CAKUT) are strongly recommended.