OpenMed/multicare-articles huggingface dataset:
Late developing supernumeraries in a case of nonsyndromic multiple supernumerary teeth
Authors: Mine Bozkurt, Tugba Bezgin, Ayşegül Tüzüner Öncül, Rukiye Göçer, Şaziye Sarı
Journal: Case Rep Dent (2015)

Objective. This case report presents 3-year follow-up of a case of nonsyndromic multiple supernumerary teeth (NSMST) with 11 supernumerary teeth, 2 of which showed subsequent formation. Case Report. A 10-year-old girl was referred to the dental clinic with the chief complaint of delayed eruption. Radiographic examination showed 9 retained supernumerary teeth. The treatment plan consisted of extraction of the supernumerary teeth and associated primary teeth in order to allow the permanent teeth to erupt. After 2 years of follow-up, 2 additional supernumerary teeth were observed. Conclusion. Regular follow-up for late forming supernumeraries is crucial for NSMST cases.
Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy
Authors: Yuan Li, Jianjun Xiong, Yi Zhang, Lin Xu, Jianyun Liu, Tao Cai
Journal: Front Genet (2021)
Keywords: atp6v1b2, ddod (dominant deafness-onychodystrophy), kif11, tjp2, hearing loss, whole-exome sequencing (wes)
MeSH terms: Case Reports

A cohort of 542 individuals in 166 families with congenital hearing loss was recruited for whole-exome sequencing analysis. Here, we report the identification of three variants in five affected individuals in two unrelated families. In family 1, a nonsense mutation (c.1516C>T, p.R506*) in the ATP6V1B2 gene, a known causal allele for dominant deafness-onychodystrophy (DDOD), was identified in the mother and son with DDOD. However, a novel heterozygous variant (c.1590T>G, p.D530E) in TJP2, a known causal gene for hearing-loss, was also detected in the patients. In family 2, the same mutation (c.1516C>T, p.R506*) of ATP6V1B2 was detected from the father and daughter with DDOD. Furthermore, a novel heterozygous variant (c.733A>G, p.M245V) in the KIF11 gene was identified from the spouse with sensorineural hearing-loss and epilepsy. Notably, genotype-phenotype analysis of KIF11-associated disorders revealed that the p.M245V and two reported hearing-loss-associated variants (p.S235C and p.H244Y) are all mapped to a single β-sheet (Ser235∼M245) in the kinesin motor domain. Together, this is the first demonstration that ATP6V1B2-caused DDOD is an autosomal dominant genetic disease, compared to previous cases with de novo mutation. Our findings expand the variant spectrum of hearing-loss-associated genes and provide new insights on understanding of hearing-loss candidate genes ATP6V1B2, TJP2, and KIF11.
Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?
Authors: Leyla Akın, Selim Kurtoğlu, Mustafa Kendirci, Mustafa Ali Akın, Musa Karakükçü
Journal: J Clin Res Pediatr Endocrinol (2011)
Keywords: diabetes, thiamine-responsive megaloblastic anaemia, deafness
MeSH terms: Anemia, Megaloblastic / complications, Anemia, Megaloblastic / drug therapy, Diabetes Mellitus / drug therapy, Hearing Loss, Sensorineural / prevention & control, Thiamine / therapeutic use, Vitamin B Complex / therapeutic use, Case Reports, Female, Hearing Loss, Sensorineural / complications, Hearing Loss, Sensorineural / drug therapy, Humans, Infant, Ketoglutarate Dehydrogenase Complex / deficiency, Thiamine Deficiency / congenital, Vitamin B Complex, Ketoglutarate Dehydrogenase Complex, Thiamine, Thiamine responsive megaloblastic anemia syndrome

Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. Whether the deafness in TRMA syndrome can be prevented is not yet known. Here, we report a four-month-old female infant diagnosed with TRMA syndrome at an early age. There was no hearing loss at the time of diagnosis. The patient's initial auditory evoked brainstem response measurements were normal. Although she was given thiamine supplementation regularly following the diagnosis, the patient developed moderate sensorineural hearing loss at 20 months of age, indicating that early diagnosis and treatment with oral thiamine (100 mg/day) could not prevent deafness in TRMA syndrome. It would be premature to draw general conclusions from one case, but we believe that further patient-based observations can shed light on the pathophysiology of this rare syndrome as well as prediction of its prognosis.
Masked inv dup(22)(q11.23), tetrasomy 8 and trisomy 19 in a blast crisis-chronic myeloid leukemia after interrupted Imatinib-treatment
Authors: Abdulsamad Wafa, Suher Almedani, Thomas Liehr, Walid Al-Achkar
Journal: Mol Cytogenet (2015)
Keywords: chronic myeloid leukemia, clonal evolution, philadelphia chromosome, prognostic factors, tetrasomoy 8, inv dup(22)(q1123)
MeSH terms: Case Reports

Background:
The Philadelphia (Ph) chromosome, or derivative chromosome 22 [der(22)], is a product of the reciprocal translocation t(9;22). It is the hallmark of chronic myelogenous leukemia (CML). It results in juxtaposition of the 5' part of the BCR gene on chromosome 22 to the 3' part of the ABL1 gene on chromosome 9. During CML progression 60-80 % of the cases acquire additional genetic changes. Blast crisis (BC) is characterized by the rapid expansion of a population of differentiation arrested blast cells (myeloid or lymphoid cells population), often presenting with secondary chromosomal abnormalities. Here we report an unusual CML-BC case with acquired secondary chromosomal aberrations observed after the patient had to interrupt a successful Imatinib treatment for overall 16 months.
Case presentation:
A complete cytogenetic and molecular cytogenetic analysis were performed and application of molecular genetic methods such as reverse transcription polymerase chain reaction (RT-PCR) finally characterized a complex karyotype including an inv dup(22)(q11.23), tetrasomy 8 and trisomy 19.
Conclusions:
Here we report the first case of a BC after successfully initiated and suddenly interrupted Imatinib treatment. Changes present after such an instant indicate for a rapid progression after Imatinib is no longer suppressing the disease.
Case report: Transcatheter closure of a giant and tortuous right coronary artery to right ventricle fistula in an infant
Authors: Yen-Hsien Wu, Yi-Ching Liu, Min-Fang Chao, Zen-Kong Dai, I-Chen Chen, Shih-Hsing Lo, Jong-Hau Hsu
Journal: Front Cardiovasc Med (2022)
Keywords: ado ii, coronary artery fistula (caf), pediatric (infant), right ventricle (rv), transcatheter closure (tcc)
MeSH terms: Case Reports

Congenital coronary artery fistulas (CAFs) are an uncommon congenital anomaly. While most patients are asymptomatic, life-threatening events including sudden death, myocardial ischemia, heart failure, infective endocarditis, and rupture of aneurysm may occur. Surgical ligation was once the standard choice of management of CAFs in the past. However, transcatheter closure of CAFs has become an emerging alternative to surgery in patients with suitable anatomy. We reported a 7-month-old infant with a giant and tortuous CAF that originated from the distal right coronary artery and drained into the right ventricle, and was successfully treated by transcatheter closure with an Amplatzer ductus occluder.
Infantile scurvy: two case reports
Authors: Leila Ghedira Besbes, Samir Haddad, Chebil Ben Meriem, Mondher Golli, Mohamed-Fadhel Najjar, Mohamed-Néji Guediche
Journal: Int J Pediatr (2010)
MeSH terms: Case Reports

Background. Ascorbic acid (vitamin C) is necessary for the formation of collagen, reducing free radicals, and aiding in iron absorption. SCURVY, a disease of dietary ascorbic acid deficiency, is uncommon today. It still exists in high risk groups including economically disadvantaged populations with poor nutrition. The incidence of SCURVY in the pediatric population is very low. Cases Report. Here we report two cases of SCURVY revealed by subperiosteal hematoma in children with cerebral palsy and developmental delay. Conclusion. SCURVY is extremely rare in children. Musculoskeletal manifestations are prominent in pediatric SCURVY. Multiple subperiosteal hematomas are an important indicator for diagnosis.
Cervical plate fracture: a rare complication
Authors: Citisli Veli, Ibrahimoglu Muhammet, Civlan Serkan, Kocaoglu Murat
Journal: Pan Afr Med J (2015)
Keywords: cervical plate, fracture, instrumentation
MeSH terms: Bone Plates / adverse effects, Cervical Vertebrae / injuries, Equipment Failure, Joint Dislocations / surgery, Neck Injuries / surgery, Neck Pain / etiology, Postoperative Complications / etiology, Spinal Fusion / instrumentation, Case Reports, Accidents, Traffic, Adolescent, Cervical Vertebrae / surgery, Combined Modality Therapy, Diskectomy, Humans, Joint Dislocations / therapy, Male, Neck Injuries / therapy, Paresis / etiology, Physical Therapy Modalities

In traumatic and degenerative diseases cervical fusion with anterior cervical plate are commonly used. The increase in the use of cervical plate segment level is also increased risk of developing complications. This case report shows that the increase in the use of cervical plate segment level and also the complications in cervical spinal instrumentation, short-segment cervical plate rare case reported to be broken.
The Spiraling Case of a Yellow Chef: Isolated Hyperbilirubinemia
Authors: Karen Jiang, Ahmad Najdat Bazarbashi, Sami Dahdal, Adina Voiculescu, Natalia Khalaf
Journal: Case Reports Hepatol (2018)
MeSH terms: Case Reports

Leptospirosis is a common bacterial disease in tropical regions of the world due to greater exposure to rodents and domestic animals; however, this condition can also occur in US urban areas, though it often goes unrecognized. Gastrointestinal symptoms are very commonly seen, and icteric leptospirosis is often confused for other conditions resulting in delayed diagnosis and worse outcomes. As mortality increases with more extensive hepatic involvement, gastroenterologists should be aware of the constellation of gastrointestinal symptoms related to leptospirosis, as it can occur in the absence of classic exposure history.
Massive Bleed Following Optical Internal Urethrotomy: An Unforeseen Doom Discussing the Unique Management Technique
Authors: Varinder Attri, Kalpesh Parmar, Sudheer Dewana, Gopal Sharma, Abhishek Chandna
Journal: J Endourol Case Rep (2018)
Keywords: angioembolization, optical internal urethrotomy, pseudoaneurysm, urethral bleed
MeSH terms: Case Reports

Objective: To demonstrate the unique management technique of ultrasound (USG)-guided compression repair for bulbourethral artery pseudoaneurysm following optical internal urethrotomy (OIU) for short segment bulbar urethral stricture. Methods: A 40-year-old man underwent day care OIU for short segment bulbar urethral stricture. The procedure was uneventful and the patient was discharged the same day. After catheter removal on day 7, the patient had massive bleed from urethra. Perineal compression stopped the bleeding; however, the patient bled again and needed blood transfusion. CT angiography revealed right bulbourethral artery pseudoaneurysm. Results: USG colour Doppler was performed to find out the exact site of pseudoaneurysm, and focused compression was given for 25 minutes. Later assessment showed no flow in pseudoaneurysm and tract was obliterated. Conclusion: Minor bleed following OIU is quite common and generally subsides spontaneously or with pressure dressing. Massive bleed is uncommon, although reported in the literature, and requires angioembolization of the feeding vessel. Before going for invasive procedure, this simple technique of USG-guided compression can be tried as it is simple, cost-effective, and highly successful in small pseudoaneurysm.
Subcutaneous Extended-Release Buprenorphine Use in Pregnancy
Authors: Craig V Towers, Heather Deisher
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Background:
Opioid use disorder (OUD) in pregnancy is managed by medication-assisted treatment. Sublingual buprenorphine is one option, but subcutaneous extended-release buprenorphine (Sublocade®) is an alternate form administered in monthly injections. Through an extensive literature search, we did not find any prior publication on the use of Sublocade in pregnancy.
Case:
Two patients with OUD switched from sublingual buprenorphine to Sublocade. One patient received a total of eight injections and then discovered she was pregnant. Based on ultrasound dating, the last 5 administrations occurred during her pregnancy. The second patient received 6 injections with the last occurring at the time of her last menstrual period. Both declined further injections, as well as oral buprenorphine. Serial urine drug screens remained positive for buprenorphine through delivery in both cases. Neither the mothers nor the neonates experienced withdrawal symptoms or adverse outcomes. No birth anomalies were found. Discussion. Though further research is needed regarding the use of Sublocade in pregnancy, it is likely that other pregnancies will occur during this treatment modality. If this long-acting form of buprenorphine medication is found to be safe, it might play a role in managing some pregnant patients with OUD.
Clarithromycin-Induced Long QT Syndrome: A Case Report
Authors: Mecnun Cetin, Munevver Yıldırımer, Serkan Ozen, Sema Tanrıverdi, Senol Coskun
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Long QT syndrome develops for a number of reasons. The number of non-antiarrhythmic drugs reported to induce QT interval prolongation with or without torsade de pointes continues to increase. Clarithromycin is a macrolide antibiotic being increasingly used for the treatment of atypical pneumonia. In this paper, we describe a patient who developed long QT prolongation syndrome after receiving clarithromycin for the treatment of atypical pneumonia.
Denture Stomatitis Revisited: A Summary of Systematic Reviews in the Past Decade and Two Case Reports of Papillary Hyperplasia of Unusual Locations
Authors: Samiha Yousef Sartawi, Shaden Abu-Hammad, Nesreen A Salim, Salah Al-Omoush
Journal: Int J Dent (2021)
MeSH terms: Review

Objectives:
Denture stomatitis is a mucosal condition associated with complete and partial removable dentures. This paper presents a short review of the literature on this topic with more emphasis on the treatment protocols of denture stomatitis as studied in recent systematic reviews.
Methods:
A general review of the literature was carried out in the first part of this paper, and then the most recent systematic reviews on the treatment protocols of denture stomatitis were summarized.
Results:
Fifteen systematic reviews were collected and classified into six main treatment protocols.
Conclusions:
Dentist knowledge of up-to-date treatment options of denture stomatitis will assist comprehensive treatment planning. However, the newer methods of denture disinfection need further studies before recommendation.
A rare case of paraganglioma of the cystic duct
Authors: Raha AlMarzooqi, Loay AlJaberi, Steven Rosenblatt, Thomas Plesec, Eren Berber
Journal: Int J Surg Case Rep (2018)
Keywords: case report, cystic duct, neuroendocrine tumor, paraganglioma

Introduction:
Biliary system paragangliomas are rare neuroendocrine tumors of embryonic neural crest origin. The majority is asymptomatic and incidentally found due to gallbladder functional disorders. Herein, we present a non-functional, 2.25 mm focus in the cystic duct, which to our knowledge, is the first reported paraganglioma of the cystic duct.
Presentation of case:
The patient presented to the Emergency Department complaining of a sudden-onset, right upper abdominal and epigastric pain. Ultrasound and Computed Tomography were both consistent with signs of early cholecystitis. Laparoscopic cholecystectomy was performed without major complications. In addition to cholelithiasis and chronic cholecystitis, pathological examination reported a neuroendocrine proliferation in the cystic duct measuring 2.25 mm favoring paraganglioma. Incidentally, the patient is unique in that they were also found to have an adrenal nodule and a normocalcemic primary hyperparathyroidism that raised suspicion for an underlying endocrinopathy. Nevertheless, genetic testing was negative.
Discussion:
Extensive literature review demonstrates only nine cases of gallbladder paraganglioma, and three cases of hepatic ducts paraganglioma, but no cases of paraganglioma occurring at the cystic duct. Although a gene mutation and syndrome was not identified in the patient, the fact that an adrenal nodule and normocalcemic primary hyperparathyroidism were present, suggests that a complete hormonal workup should be obtained in these patients.
Conclusion:
It is important to realize that biliary system paragangliomas, although rare, may occur. As they have an association with multiple endocrine neoplasia syndrome, a thorough endocrine investigation should be made.
Painful Foot Lesions: A Case Report
Authors: Trevor J Lockard, Ritu N Swali, Melodi Javid Whitley
Journal: Cureus (2023)
Keywords: dermatologic drug reaction, foot lesions, hand-foot skin reaction, hyperkeratotic lesions, renal cell carcinoma, tyrosine kinase inhibitors
MeSH terms: Case Reports

Hand-foot skin reaction (HFSR) is a documented cutaneous adverse reaction to tyrosine kinase inhibitor (TKI) chemotherapy. Cutaneous toxicities such as HFSR can be debilitating and may result in serious complications; however, continued chemotherapy is desirable to optimize the patient's odds of survival and tumor remission. We present a case of a 66-year-old male, with a history of metastatic renal clear cell carcinoma, who was diagnosed with grade 3 HFSR triggered by axitinib, a tyrosine kinase inhibitor. Our patient was able to expeditiously resume chemotherapy after temporary cessation of axitinib with concurrent application of topical steroids and keratolytics. Expedient return to life-prolonging chemotherapy is of great importance for patients with advanced malignancies; therefore, accurate diagnosis and prompt identification of the offending medication are critical to the management of this entity. We aim to increase the awareness of tyrosine kinase inhibitor-induced HFSR and review the diagnosis and current guidelines for management.
Orthodontic Treatment and Maxillary Anterior Segmental Distraction Osteogenesis of a Subject with Williams-Beuren Syndrome and Isolated Cleft Palate: A Long-Term Follow-Up from the Age of 5 to 24 Years
Authors: Tetsutaro Yamaguchi, Tatsuo Shirota, Mohamed Adel, Masahiro Takahashi, Shugo Haga, Ryo Nagahama, Misato Nakashima, Mayu Furuhata, Takaaki Kamatani, Koutaro Maki
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Williams-Beuren syndrome (WBS) is a rare multisystem disorder caused by a hemizygous deletion of the elastin gene on chromosome 7q11.23. WBS patients have characteristic skeletal features and dental anomalies accompanied by mental retardation, a friendly outgoing personality, and mild to moderate intellectual disability or learning problems. In this case report, we present the combined orthodontic and surgical treatment of a WBS patient with an isolated cleft palate through a long-term follow-up from the age of 5 to 24 years. During the period of active treatment, comprehensive orthodontic treatment combined with maxillary anterior segmental distraction osteogenesis and prosthetic treatment using dental implants were effective in dramatically improving the patient's malocclusion. The patient's mental abilities and the cooperation shown by the patient and her family were crucial for the success of this complex and long-term treatment course.
Exploratory Cost-Effectiveness Analysis of Response-Guided Neoadjuvant Chemotherapy for Hormone Positive Breast Cancer Patients
Authors: Anna Miquel-Cases, Valesca P Retèl, Bianca Lederer, Gunter von Minckwitz, Lotte M G Steuten, Wim H van Harten
Journal: PLoS One (2016)
MeSH terms: Breast Neoplasms / economics, Cost-Benefit Analysis, Drug Monitoring / methods, Models, Statistical, Neoadjuvant Therapy / economics, Randomized Controlled Trial, Research Support, Non-U.S. Gov't, Breast Neoplasms / diagnosis, Breast Neoplasms / drug therapy, Breast Neoplasms / mortality, Cyclophosphamide / therapeutic use, Decision Trees, Docetaxel, Doxorubicin / therapeutic use, Early Diagnosis, Female, Humans, Proportional Hazards Models, Quality-Adjusted Life Years, Taxoids / therapeutic use, Taxoids, Docetaxel, Doxorubicin, Cyclophosphamide

Purpose:
Guiding response to neoadjuvant chemotherapy (guided-NACT) allows for an adaptative treatment approach likely to improve breast cancer survival. In this study, our primary aim is to explore the expected cost-effectiveness of guided-NACT using as a case study the first randomized controlled trial that demonstrated effectiveness (GeparTrio trial).
Materials and methods:
As effectiveness was shown in hormone-receptor positive (HR+) early breast cancers (EBC), our decision model compared the health-economic outcomes of treating a cohort of such women with guided-NACT to conventional-NACT using clinical input data from the GeparTrio trial. The expected cost-effectiveness and the uncertainty around this estimate were estimated via probabilistic cost-effectiveness analysis (CEA), from a Dutch societal perspective over a 5-year time-horizon.
Results:
Our exploratory CEA predicted that guided-NACT as proposed by the GeparTrio, costs additional €110, but results in 0.014 QALYs gained per patient. This scenario of guided-NACT was considered cost-effective at any willingness to pay per additional QALY. At the prevailing Dutch willingness to pay threshold (€80.000/QALY) cost-effectiveness was expected with 78% certainty.
Conclusion:
This exploratory CEA indicated that guided-NACT (as proposed by the GeparTrio trial) is likely cost-effective in treating HR+ EBC women. While prospective validation of the GeparTrio findings is advisable from a clinical perspective, early CEAs can be used to prioritize further research from a broader health economic perspective, by identifying which parameters contribute most to current decision uncertainty. Furthermore, their use can be extended to explore the expected cost-effectiveness of alternative guided-NACT scenarios that combine the use of promising imaging techniques together with personalized treatments.