OpenMed/multicare-articles huggingface dataset:
Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia
Authors: Misbahuddin M Rafeeq, Hussam Aly Sayed Murad, Najumuddin, Samee Ullah, Zaheer Ahmed, Qamre Alam, Muhammad Bilal, Alaa Hamed Habib, Ziaullah M Sain, Muhammad Jawad Khan, Muhammad Umair
Journal: Front Genet (2023)
Keywords: tbx2, wes, chondrodysplasia, nonsense mutation, novel variant
MeSH terms: Case Reports

Background: T-box family members are transcription factors characterized by highly conserved residues corresponding to the DNA-binding domain known as the T-box. TBX2 has been implicated in several developmental processes, such as coordinating cell fate, patterning, and morphogenesis of a wide range of tissues and organs, including lungs, limbs, heart, kidneys, craniofacial structures, and mammary glands. Methods: In the present study, we have clinically and genetically characterized a proband showing a severe form of chondrodysplasia with developmental delay. Whole-exome sequencing (WES), Sanger sequencing, and 3D protein modeling were performed in the present investigation. Results: Whole-exome sequencing revealed a novel nonsense variant (c.529A>T; p.Lys177*; NM_005994.4) in TBX2. 3D-TBX2 protein modeling revealed a substantial reduction of the mutated protein, which might lead to a loss of function (LOF) or nonsense-mediated decay (NMD). Conclusion: This study has not only expanded the mutation spectrum in the gene TBX2 but also facilitated the diagnosis and genetic counseling of related features in affected families.
Miniature Erupting Volcano-Shaped Mitral Valve Aneurysm Secondary to Streptococcus agalactiae ST1656 Endocarditis: A Case Report
Authors: Hiroyuki Yamamoto, Hiroyuki Yamada, Takahiro Maeda, Mieko Goto, Yoshihiko Ikeda, Takashi Takahashi
Journal: Front Cardiovasc Med (2021)
Keywords: gbs ie, mr, mva, st1656, tee, diabetes
MeSH terms: Case Reports

Mitral valve aneurysm (MVA) is a rare but life-threatening valvular pathologic entity most commonly associated with infective endocarditis (IE) of the aortic valve (AV). We describe a diabetic patient with ruptured anterior MVA secondary to capsular genotype V Streptococcus agalactiae (GBS) harboring novel ST1656 IE without AV involvement. Our patient presented with manifestations of various serious systemic and intracardiac complications, requiring early surgery, but ultimately died from non-cardiogenic causes. This case emphasizes the importance of treating MVA as a dangerous sequela of IE, of performing transesophageal echocardiography to make its accurate diagnosis and institute early surgical intervention, and of considering GBS as a rare but important causative agent of IE in elderly patients with comorbidities.
A Rare Case of Fatal Hemorrhagic Stroke in a Young Female with Early Mixed Connective Tissue Disease
Authors: James R Agapoff Iv
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Mixed connective tissue disease (MCTD) often presents as a slow progressive illness with low morbidity and mortality. Serious central nervous system disease is uncommon, and fatal outcomes are rarely seen. Here, we report a rare case of fatal hemorrhagic stroke in a 43-year-old female with a rapidly progressive MCTD. She presented to primary care with a history of headaches, visual disturbances, and unprovoked lower extremity swelling and pain. A rheumatological workup showed positive antinuclear (ANA) and ribonucleoprotein (RNP) antibodies. Magnetic resonance imaging (MRI) found a 12 mm hemorrhage along a cortical sulcus of the right frontal lobe, and a follow-up magnetic resonance angiography (MRA) and ophthalmological exam showed no definitive signs of vasculitis. Over the course of her workup, she developed swollen hands, Raynaud's syndrome, myalgias, and synovitis characteristic of evolving MCTD. The patient then began to experience severe headaches over one month. Repeat MRI was ordered, but never completed, and the patient presented to the emergency department (ED) with a severe, right-sided headache, and left-sided visual disturbance. In the ED, she began to display evidence of delirium and seizure activity and became unresponsive. A computerized tomography scan (CT) of the brain showed a right parietal lobe intraparenchymal hemorrhage approximately 5 × 3 × 5 cm in size with secondary mass effect including mid- and hind-brain herniation. Computerized tomography angiography (CTA) of the brain showed signs of large vessel vasculitis. A craniectomy was performed; however, the patient never regained consciousness and died several days later. Vasculitis, while rare in connective tissue diseases, should be aggressively assessed for and managed in patients with any early signs and symptoms of cerebrovascular involvement to prevent fatal outcomes.
Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis
Authors: Irene Degrassi, Chiara Amoruso, Giuseppe Giordano, Marina Del Puppo, Andrea Mignarri, Maria Teresa Dotti, Mauro Naturale, Gabriella Nebbia
Journal: Front Pediatr (2020)
Keywords: cyp27a1 gene, cerebrotendinous xanthomatosis, chenodeoxycholic acid, cholestanol, inborn errors of bile acid metabolism, neonatal cholestasis
MeSH terms: Case Reports

Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons. Most cases are diagnosed and treated in the second or third decade of life, when neurological involvement appears. We describe a case of CTX presenting as neonatal cholestasis. Results: The child presented cholestasis at 2 months of life. In the following months jaundice slowly disappeared, with a normalization of bilirubin and aminotransferases, respectively, at 6 and 8 months. A LC-Mass Spectrometry of the urines showed the presence of cholestanepentols glucuronide, which led to the suspicion of cerebrotendinous xanthomatosis. The diagnosis was confirmed by the dosage of cholestanol in serum and the molecular genetic analysis of the CYP27A1 gene. Therapy with chenodeoxycholic acid (CDCA) was started at 8 months and is still ongoing. The child was monitored for 13 years by dosage of serum cholestanol and urinary cholestanepentols. A strictly biochemical and neurological follow up was performed and no sign of neurological impairment was observed. Conclusions: Prompt diagnosis and treatment of CTX presenting as neonatal cholestasis may prevent further neurological impairment.
Concomitant Kinase-Dead BRAF and Oncogenic KRAS Lead to an Aggressive Biologic Behavior and Tumor Lysis Syndrome: A Case Report
Authors: Roy Holland, Offir Ben-Ishay, Irit Ben-Aharon
Journal: Front Oncol (2022)
Keywords: ngs - next generation sequencing, case report, concomitant braf and kras mutations, duodenal mucinous adenocarcinoma, tumor lysis syndrome
MeSH terms: Case Reports

Tumor lysis syndrome (TLS) is a life-threatening oncological emergency rarely seen in solid tumors and is a complication of cancer therapy for rapidly proliferating tumors with devastating outcomes. BRAF and KRAS are two key oncogenes in the MAPK signaling pathway that are routinely examined for mutations to predict resistance to anti-EGFR therapy. Concomitant KRAS and BRAF mutations in GI tumors are rare, occurring in less than 0.001% of cases and are associated with an aggressive tumor behavior. We report an unusual case of a young male patient diagnosed with locally advanced duodenal mucinous adenocarcinoma harboring concomitant KRAS and BRAF mutations. This unique genetic profile generated hyperactivation of the EGFR signaling pathway. Following day-1 of mFOLFOX-6 chemotherapy protocol, the patient developed TLS. Clinical resolution was achieved using high volume hydration. Unfortunately, the patient passed away 10 days later during anesthesia induction.
Childhood tuberculosis in northern Viet Nam: a review of 103 cases
Authors: Robert J Blount, Bao Tran, Leah G Jarlsberg, Ha Phan, Van Thanh Hoang, Nhung Viet Nguyen, Deborah A Lewinsohn, Payam Nahid
Journal: PLoS One (2014)
MeSH terms: Tuberculosis / epidemiology, Research Support, N.I.H., Extramural, Adolescent, Age Distribution, Child, Child, Preschool, Female, Hospitalization / statistics & numerical data, Humans, Infant, Male, Retrospective Studies, Therapeutics, Tuberculin Test, Tuberculosis / diagnosis, Tuberculosis / microbiology, Tuberculosis / therapy, Vietnam / epidemiology

Background:
Childhood tuberculosis causes significant morbidity and mortality in Southeast Asia, yet little is known about the epidemiology and clinical characteristics of this disease in Viet Nam.
Objectives:
To determine the demographics, clinical presentations, radiographic and microbiologic findings, treatment regimens, and outcomes of children admitted with tuberculosis (TB) to a national referral hospital in Viet Nam.
Methods:
We conducted a retrospective case series study of children ≤ 15 years old with bacteriologically confirmed or clinically diagnosed TB admitted to a national referral hospital in Ha Noi, Viet Nam from January through December 2007.
Results:
One hundred three children were identified: median age 5 years (IQR 2-10), 44% female, 99% Kinh ethnicity, 27% residing in Ha Noi, 88% with BCG vaccination, 27% with known TB contact, and 38% malnourished. Intrathoracic TB was present in 62%, extrathoracic in 52%, both intra and extrathoracic in 19%, and undetermined site in 5%. The most common extrathoracic manifestation was peripheral lymphadenitis, and children under 5 were more likely to have miliary TB or both intra and extrathoracic TB. Fever and failure to thrive were common presenting symptoms among all participants (65% and 56%, respectively), 66% of those with intrathoracic TB presented with cough, and 92% of those with TB meningitis presented with severe neurologic impairment. Acid-fast bacilli smears and mycobacterial cultures were positive in 18% and 21% of children tested, and histopathology was positive in 88% of those biopsied. There were no adverse drug reactions necessitating change in therapy, and no inpatient mortality.
Conclusions:
Extrathoracic TB was common, treatment well tolerated and clinical outcomes excellent. Culture confirmation rates were low and emphasize the need for improved diagnostics.
Dermoscopy of rippled pattern sebaceoma
Authors: Mizuho Nomura, Masaru Tanaka, Maki Nunomura, Miki Izumi, Fuyuki Oryu
Journal: Dermatol Res Pract (2010)
MeSH terms: Case Reports

A 77-year-old Japanese woman presented a dome-shaped pinkish nodule on the scalp. Dermoscopy demonstrated yellowish homogeneous ovoid areas with translucent whitish veil and arborizing vessels. No association with Muir-Torre syndrome was found. Histopathology revealed a smooth-bordered neoplasm in the dermis with partial connection to the epidermis. The tumor was composed mainly of germinative cells. The tumor focally showed a typical "rippled pattern". There were only a few vacuolated cells suggesting sebaceous differentiation. These cells were highlighted with adipophilin antibody. No nuclear atypia or mitotic figures were observed. We regarded the neoplasm as sebaceoma. Dermoscopy demonstrated clearly visualized yellowish homogeneous ovoid areas. This feature usually corresponds to dermal conglomerations of the cells with sebaceous differentiation. However, this case histopathologically showed only limited area with sebaceous differentiation. We presented a case of rippled-pattern sebaceoma and described its dermoscopic features. This was the first report referring to the dermoscopic features of sebaceoma.
Durable Complete Response in a Melanoma Patient With Unknown Primary, Associated With Sequential and Severe Multi-Organ Toxicity After a Single Dose of CTLA-4 Plus PD-1 Blockade: A Case Report
Authors: Johanna Matull, Elisabeth Livingstone, Axel Wetter, Lisa Zimmer, Anne Zaremba, Harald Lahner, Dirk Schadendorf, Selma Ugurel
Journal: Front Oncol (2020)
Keywords: case report, checkpoint inhibitors, immune-related adverse events, melanoma, therapy discontinuation
MeSH terms: Case Reports

Monoclonal antibodies blocking PD-1 and CTLA-4 immunological checkpoints lead to durable tumor responses in a considerable number of advanced melanoma patients. Besides their anti-neoplastic efficacy, these immune checkpoint inhibitors cause a wide range of immune-related adverse events (irAEs), often enforcing an early discontinuation of therapy. The value of irAEs as a predictive marker for better patient survival is still debated. We report here on a melanoma patient with intramuscular, pulmonary, and bone metastases who developed severe sequential irAEs involving multiple organ systems after single application of a combined immunotherapy with ipilimumab plus nivolumab, followed by a durable complete response despite an early discontinuation of therapy.
Mucosal coronally positioned flap technique for management of excessive gingival display
Authors: Adel Bouguezzi, Ouiam Hiba Boudour, Sameh Sioud, Hajer Hentati, Jamil Selmi
Journal: Pan Afr Med J (2020)
Keywords: gummy smile, lip repositioning, mucosal coronally flap
MeSH terms: Gingiva, Lip / surgery, Mouth Mucosa / surgery, Smiling, Case Reports, Esthetics, Dental, Follow-Up Studies, Humans, Male, Patient Satisfaction, Surgical Flaps, Young Adult

Improvement of smile esthetics is a major goal of modern dentistry. Various treatment modalities have been proposed to correct excessive gingival display, depending on intraoral or extraoral etiologies. This report aimed to document the use of mucosal coronally positioned flap called surgical lip repositioning technique for the management of a gummy smile associated with vertical maxillary excess. The procedure restricts the muscle pull of the elevator lip muscles by shortening the vestibule, thus reducing the gingival display when smiling. Rapid surgical healing with minimal postoperative sequelae was observed. The follow up examinations showed esthetic satisfaction up to 6 months postoperatively, at the end of one year a partial relapse was observed. Although the short-term stable results of lip repositioning surgery appear satisfying postoperatively, its utility as a long-term treatment option remains questionable. More studies with larger sample size and long-term follow-up are necessary to establish the level of scientific evidence of this procedure.
A Case of Carbon Monoxide-Induced Delayed Neurological Sequelae Successfully Treated with Hyperbaric Oxygen Therapy, N-Acetylcysteine, and Glucocorticoids: Clinical and Neuroimaging Follow-Up
Authors: Vincenzo Spina, Francesco Tomaiuolo, Lorenzo Celli, Luca Bonfiglio, Luca Cecchetti, Maria Chiara Carboncini
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Carbon monoxide (CO) poisoning is a leading cause of intentional and unintentional poisoning worldwide, associated with mortality and severe morbidity. Some survivors of CO poisoning develop, after a lucid interval, a potentially permanent encephalopathy in the form of cognitive impairment and movement disorders, such as Parkinsonism. One of the most frequent neuroimaging findings is a cerebral white matter damage, but so far its precise cause and specific therapy are still debated. We here report the case of a 33-year-old woman with severe carbon monoxide poisoning who, after a period of lucid interval, presented symptoms of declining motor and cognitive functions. She was treated with 40 sessions of Hyperbaric Oxygen Therapy (HBOT). The therapeutic use of oxygen at supraphysiological pressures might either increase systemic oxidative stress or cause an overproduction of oxygen free radicals as drawbacks. Concurrent use of antioxidants and anti-inflammatory drugs may prevent the side effects of oxygen therapy at supraphysiological pressure due to oxidative stress. For this reason, the patient was also treated with high-dose N-Acetylcysteine and glucocorticoids. Here, we describe the longitudinal monitoring of patient's cognitive abilities and leukoencephalopathy associated with her positive clinical outcome.
Lasting Effects of Low-Frequency Repetitive Transcranial Magnetic Stimulation in Writer's Cramp: A Case Report
Authors: Antonino Naro, Luana Billeri, Simona Portaro, Placido Bramanti, Rocco Salvatore Calabrò
Journal: Front Hum Neurosci (2019)
Keywords: handwriting, left premotor cortex, non-invasive neuromodulation, repetitive transcranial magnetic stimulation, sensorimotor plasticity, writer’s cramp

The treatment of writer's cramp (W'sC) is essentially based on the use of botulinum toxin. However, additional treatments are sometime required to prolong the effects of the toxin, compensate for its progressive loss of efficacy in some subjects, and re-educate handwriting (e.g., rehabilitation strategies). Low-frequency repetitive transcranial magnetic stimulation (rTMS) has been employed to improve W'sC, but with short-lasting and controversial outcomes. We report on the effects of a long-lasting low-frequency rTMS paradigm on W'sC symptoms. A 25-year-old male with a diagnosis of simple W'sC was enrolled in the study. He underwent an objective assessment using the Writer's Cramp Rating Scale (WCRS) and the 1-min writing test. Further, we recorded muscle activation of the upper limb during handwriting using an EMG wireless system. The patient was provided with 1,200 biphasic magnetic pulses delivered at 1 Hz over the left premotor cortex (PMC), 15 times scheduled every 2 days, thus covering a period of 5 weeks, followed by 10 days of rest. This block of stimulations was practiced other four times, for a period of 6 months. The patient showed a gradual clinical improvement with the progression of the treatments. W'sC symptoms totally disappeared and all the clinical scores showed a significant improvement after rTMS completion. Such improvement lasted up to 1 year after the end of the treatment. Moreover, we detected a long-lasting improvement in sensorimotor plasticity as measured by a paired associative stimulation protocol. Our case suggests that the long-lasting application of 1 Hz rTMS to PMC is a safe and potentially valuable tool to improve W'sC symptoms enduringly, probably by reverting maladaptive plasticity mechanisms within the sensory-motor areas of the hemisphere contralateral to the dystonic hand.
Revisiting the sub-mandibular approach with a modified incision
Authors: Namdeo Prabhu, Zafar Ali Khan, Rakhi Issrani
Journal: Pan Afr Med J (2020)
Keywords: incision, mandibular angle, sub-mandibular
MeSH terms: Fracture Fixation, Internal / methods, Mandibular Fractures / surgery, Open Fracture Reduction / methods, Case Reports, Adult, Cicatrix / etiology, Female, Humans, Treatment Outcome

Angle of mandible has been long plagued throughout the history for being one of the most common places of facial bone fracture and also related complications if not treated properly. Hereby, two cases of fracture of angle of mandible those were surgically treated with an aim to modify existing extra-oral approaches specifically for treating the mandibular angle fractures for the purpose of open reduction and internal fixation so as to have a good access combined with an aesthetic and inconspicuous scar postoperatively are described. Also, an attempt is made to add one more type of incision to many existing ones so that future surgeons can choose over which best suits their procedure and as an addition to the ever-increasing literature. There is no doubt that meticulous surgical procedure and experience is needed to identify the structures, to stay in the plane of desire and work in comparatively bloodless field. Hence this approach can be bit challenging for newer surgeons. Nonetheless, the result after the closure of the field is quite rewarding.
A case report of acute acalculous cholecystitis due to Salmonella Paratyphi B complicated by biliary peritonitis
Authors: El Bachir Benjelloun, Leila Chbani, Iman Toughrai, Abdelmalek Ousadden, Khalid Mazaz, Kahlid Ait Taleb
Journal: Pan Afr Med J (2013)
Keywords: acalculous cholecystitis, salmonella paratyphi b, biliary peritonitis, ultrasonography
MeSH terms: Acalculous Cholecystitis / complications, Acalculous Cholecystitis / microbiology, Paratyphoid Fever / complications, Peritonitis / complications, Salmonella paratyphi B / isolation & purification, Case Reports, Acalculous Cholecystitis / diagnosis, Acalculous Cholecystitis / surgery, Acute Disease, Aged, Cholecystectomy, Humans, Male, Paratyphoid Fever / diagnosis, Paratyphoid Fever / surgery, Peritonitis / diagnosis, Peritonitis / microbiology, Peritonitis / surgery

Non-typhoidal salmonella are a rare case of acute acalculouscholecystitis (AAC). Salmonella Paratyphi B, which accounts for one of the less invasive NTS serotypes, has rarely been reported to cause cholecystitis. We describe a case of 65-year old previously healthy man, who present with signs of acute abdomen, due to biliary peritonitis as a complication of acute acalculouscholecystitis caused by Salmonella paratyphi B. Our case illustrates the potential severity of infection with Salmonella Paratyphi B especially in older patient. High index of awarenessshould be considered in endemic areas.
Giant Retroperitoneal Mucinous Tumor Supportively Diagnosed as a Dedifferentiated Liposarcoma by Fluorescence In Situ Hybridization of MDM2 Gene
Authors: Taku Naiki, Shuzo Hamamoto, Noriyasu Kawai, Aya Naiki-Ito, Yoshiyuki Kojima, Takahiro Yasui, Keiichi Tozawa, Kenjiro Kohri
Journal: ISRN Urol (2011)
MeSH terms: Case Reports

Surgical resection was performed on a 47-year-old woman for a retroperitoneal mass that weighed 8.5 kg. Histological examination revealed a myxoid sarcomatous tumor. Because diagnosis could not be determined by immunohistochemistry, attention was focused on MDM2 (murine double minute) gene amplification by fluorescence in situ hybridization (FISH) analysis. The tumor was finally determined to be a dedifferentiated liposarcoma. We experienced a case of a giant retroperitoneal dedifferentiated liposarcoma. FISH analysis was useful for the diagnosis and determination of the therapeutic strategy.
Thrombectomy of a Complex Deep Vein Thrombosis: A Case Report
Authors: Talha Shabbir, Matthew Wade, Krishna Das, Rahul Nayyar
Journal: Cureus (2023)
Keywords: deep vein thrombosis, deep vein thrombosis (dvt), endovascular thrombectomy, interventional radiology, ivc filter, oral anticoagulation, thrombus, wells dvt score
MeSH terms: Case Reports

A deep vein thrombosis (DVT) is a multifactorial condition characterized by a thrombus or blood clot developing in the deep veins of the upper or lower extremities. The presentation of DVT is characterized by unilateral peripheral edema and signs of inflammation in the affected extremity. The treatment of DVT is complex and case-dependent; however, most individuals are managed with oral anticoagulation therapy, while complex cases can be treated with advanced interventions. This report discusses a singular case of an atypical or complex DVT in a middle-aged woman with prior venous thromboembolic events undergoing a thrombectomy using an Inari FlowTriever system.