OpenMed/multicare-articles huggingface dataset:
Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1
Authors: Hiroyuki Suzuki, Teruko Arinaga-Hino, Tomoya Sano, Yutaro Mihara, Hironori Kusano, Tatsuki Mizuochi, Takao Togawa, Shogo Ito, Tatsuya Ide, Reiichiro Kuwahara, Keisuke Amano, Toshihiro Kawaguchi, Hirohisa Yano, Masayoshi Kage, Hironori Koga, Takuji Torimura
Journal: Front Med (Lausanne) (2022)
Keywords: atp8b1, autosomal recessive, benign recurrent intrahepatic cholestasis (bric), cholestasis, progressive familial intrahepatic cholestasis (pfic), rifampicin
MeSH terms: Case Reports

Benign recurrent intrahepatic cholestasis type 1 (BRIC1) is a rare autosomal recessive disorder that is characterized by intermittent episodes of jaundice and intense pruritus and caused by pathogenic variants of adenosine triphosphatase phospholipid transporting 8B1 (ATP8B1). The presence of genetic heterogeneity in the variants of ATP8B1 is suggested. Herein, we describe a unique clinical course in a patient with BRIC1 and a novel heterozygous pathogenic variant of ATP8B1. A 20-year-old Japanese man experienced his first cholestasis attack secondary to elevated transaminase at 17 years of age. Laboratory examinations showed no evidence of liver injury caused by viral, autoimmune, or inborn or acquired metabolic etiologies. Since the patient also had elevated transaminase and hypoalbuminemia, he was treated with ursodeoxycholic acid and prednisolone. However, these treatments did not relieve his symptoms. Histopathological assessment revealed marked cholestasis in the hepatocytes, Kupffer cells, and bile canaliculi, as well as a well-preserved intralobular bile duct arrangement and strongly expressed bile salt export pump at the canalicular membrane. Targeted next-generation sequencing detected a novel heterozygous pathogenic variant of ATP8B1 (c.1429 + 2T > G). Taken together, the patient was highly suspected of having BRIC1. Ultimately, treatment with 450 mg/day of rifampicin rapidly relieved his symptoms and shortened the symptomatic period.
Lesser Tuberosity Avulsion Fracture in an 11-Year-Old Baseball Player due to Batting
Authors: Ryan Cheng, Jay Moran, Samantha Smith, Don Li, Christopher A Schneble, Shin Mei Chan, Elizabeth C Gardner
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Case:
We report an 11-year-old male who sustained a lesser tuberosity avulsion fracture of the proximal humerus upon making contact with a baseball during an at-bat. This injury was neglected for 14 months and was eventually detected by an axillary radiograph and subsequent MRI. He successfully underwent an open surgical repair and regained full range of motion and level of activity at 1-year follow-up.
Conclusion:
In pediatric baseball players, lesser tuberosity avulsion fractures may occur upon striking a baseball with a bat. Even after being neglected for several months, these injuries can be treated successfully with an open surgical repair.
Iatrogenic injury of profunda femoris artery branches after intertrochanteric hip screw fixation for intertrochanteric femoral fracture: a case report and literature review
Authors: Nikolaos Patelis, Andreas Koutsoumpelis, Konstantinos Papoutsis, George Kouvelos, Chrysovalantis Vergadis, Anastasios Mourikis, Sotiris E Georgopoulos
Journal: Case Rep Vasc Med (2014)

A case of arterial rupture of the profunda femoris arterial branches, following dynamic hip screw (DHS) fixation for an intertrochanteric femoral fracture, is presented. Bleeding is controlled by coil embolization, but, later on, the patient underwent orthopedic material removal due to an infection of a large femoral hematoma.
Data-driven decisions for reducing readmissions for heart failure: general methodology and case study
Authors: Mohsen Bayati, Mark Braverman, Michael Gillam, Karen M Mack, George Ruiz, Mark S Smith, Eric Horvitz
Journal: PLoS One (2014)
MeSH terms: Heart Failure, Models, Theoretical, Patient Readmission / statistics & numerical data, Research Support, Non-U.S. Gov't, Databases, Factual, Humans, Patient Readmission / economics, Retrospective Studies

Background:
Several studies have focused on stratifying patients according to their level of readmission risk, fueled in part by incentive programs in the U.S. that link readmission rates to the annual payment update by Medicare. Patient-specific predictions about readmission have not seen widespread use because of their limited accuracy and questions about the efficacy of using measures of risk to guide clinical decisions. We construct a predictive model for readmissions for congestive heart failure (CHF) and study how its predictions can be used to perform patient-specific interventions. We assess the cost-effectiveness of a methodology that combines prediction and decision making to allocate interventions. The results highlight the importance of combining predictions with decision analysis.
Methods:
We construct a statistical classifier from a retrospective database of 793 hospital visits for heart failure that predicts the likelihood that patients will be rehospitalized within 30 days of discharge. We introduce a decision analysis that uses the predictions to guide decisions about post-discharge interventions. We perform a cost-effectiveness analysis of 379 additional hospital visits that were not included in either the formulation of the classifiers or the decision analysis. We report the performance of the methodology and show the overall expected value of employing a real-time decision system.
Findings:
For the cohort studied, readmissions are associated with a mean cost of $13,679 with a standard error of $1,214. Given a post-discharge plan that costs $1,300 and that reduces 30-day rehospitalizations by 35%, use of the proposed methods would provide an 18.2% reduction in rehospitalizations and save 3.8% of costs.
Conclusions:
Classifiers learned automatically from patient data can be joined with decision analysis to guide the allocation of post-discharge support to CHF patients. Such analyses are especially valuable in the common situation where it is not economically feasible to provide programs to all patients.
Necrotizing fasciitis and septic shock due to streptococcal toxic shock syndrome in an elderly patient: A case report
Authors: Akiko Kurachi, Yusuke Ishida, Koichi Nakazawa, Toshio Okada, Takumi Kishida, Hiroyuki Uchino
Journal: Clin Case Rep (2023)
Keywords: streptococcus dysgalactiae subsp equisimilis, necrotizing fasciitis, polymyxin b immobilized fiber column direct hemoperfusion, septic shock, streptococcal toxic shock syndrome
MeSH terms: Case Reports

Streptococcal toxic shock syndrome (STSS) has a high mortality rate, and most patients die within a few days of onset. We report an elderly patient with STSS, necrotizing fasciitis and septic shock caused by group G streptococcus who was successfully treated with multidisciplinary therapy.
Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome
Authors: Mustafa Ali Akın, Tamer Güneş, Leyla Akın, Dilek Çoban, Sena Kara Oncu, Aslıhan Kiraz, Selim Kurtoğlu
Journal: J Clin Res Pediatr Endocrinol (2011)
Keywords: rubinstein-taybi syndrome, congenital hyperthyroidism, monozygotic twins, thyroid hypoplasia
MeSH terms: Congenital Hypothyroidism / etiology, Rubinstein-Taybi Syndrome / complications, Thyroid Dysgenesis / complications, Case Reports, Twin Study, Congenital Hypothyroidism / physiopathology, Female, Humans, Infant, Newborn, Rubinstein-Taybi Syndrome / physiopathology, Thyroid Dysgenesis / physiopathology, Twins, Monozygotic

Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes. A pair of female twins were admitted to our neonatology unit 16 hours after delivery. They were born at 35 weeks of gestation. Both twins had an unusual dysmorphic facial appearance with microcephaly, as well as broad short thumbs and large toes. Based on the presence of characteristic dysmorphic features, the twins were diagnosed as RSTS. Thyroid function tests in the first twin revealed the following results: free thyroxine (T4) 8.4 pg/mL, thyrotropin (TSH) 4.62 mIU/L, thyroglobulin (TG) 213.24 ng/mL and a normal level of urinary iodine excretion (UIE). Thyroid function test results in the second twin in the second week were: free T4 5.9 pg/mL, TSH 9.02 mIU/L, TG 204.87 ng/mL, and normal UIE levels. Thyroid volumes were 0.36 mL and 0.31 mL in the first and second twin, respectively. TH was confirmed by technetium 99 m pertechnetate thyroid scans in both infants. Thyroid function tests normalized with L-thyroxine replacement therapy (10 μg/kg/day) around the end of the 3(rd) week of life. The infants were discharged planning their follow-up by both endocrinology and cardiology units. The rarity of cases of twins with RSTS (concordant) co-existing with CH led us to present this report.
Combination of Naltrexone and Isotretinoin for the Treatment of Darier Disease
Authors: Tomás Costa, Clarisse Rebelo, Gabriela Marques Pinto, Bruno Duarte
Journal: Cureus (2023)
Keywords: clinical dermatology, darier disease, dermatology case report, genodermatoses, low-dose naltrexone
MeSH terms: Case Reports

Darier disease (DD) is an autosomal-dominant genodermatosis in which mutations in the ATP2A2 gene result in impaired intercellular adhesion and epidermal blistering. Treatment options usually rely on systemic retinoids, but a refractory disease is still a therapeutical challenge. Given the similarity of DD pathogenesis with Hailey-Hailey disease, concomitant treatment with low-dose-naltrexone (LDN) has been proposed. We present the case of a 34-year-old woman with a 20-year history of severe, biopsy-proven DD, previously treated with several unsuccessful topical and systemic treatments, including oral isotretinoin, cyclosporine, doxycycline, methotrexate, acitretin, and subcutaneous adalimumab. At presentation, she had widespread keratotic, crusted, brown papules on her trunk and proximal extremities. Treatment with oral LDN (4.5 mg/day in manipulated tablets) was then initiated while maintaining the current isotretinoin therapy. After three months, there was a nearly complete clearance of the lesions, and no adverse effects were reported.
Arteriovenous Fistula after Anatomic All-Inside Anterior Cruciate Ligament Reconstruction
Authors: Mathijs C H W Fuchs, Martijn Dietvorst, Roel Vaes, Maarten Loos, Matthijs P Somford, Rob P A Janssen
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

We present the first case of an arteriovenous fistula after an all-inside anterior cruciate ligament (ACL) reconstruction. A seventeen-year-old boy had an uneventful ACL reconstruction. Four weeks after surgery, the patient was seen with a pulsating swelling at the lateral distal upper leg. Vascular consultation led to the diagnosis of pseudoaneurysm and arteriovenous fistula of the lateral superior genicular artery. Most likely, fistula is caused by the stab incision for preparation of the femoral tunnel, and no anatomical cause was found. The clinical presentation, previous cases of arteriovenous fistula after arthroscopic ACL reconstruction, possible causes, and management are discussed.
A Case of Follicular Tumor of Uncertain Malignant Potential (FT-UMP) with Glomeruloid Features Showing Capsular Mucinous Degeneration
Authors: Daniela Cabibi, Andrea Mondello, Ada Maria Florena, Giulia Rimi, Antonino Giulio Giannone, Calogero Cipolla, Maria Rosaria Valerio, Giuseppa Graceffa
Journal: Case Rep Pathol (2021)
MeSH terms: Case Reports

The most recent revision of the World Health Organization (WHO) Classification of Tumours of Endocrine Organs introduced a new variant of follicular thyroid carcinoma (FTC). It is characterized by a "glomeruloid" architectural pattern of growth. We present a case of follicular tumor with glomeruloid features, with Alcian Blue positive mucinous stromal degeneration in foci of questionable capsular microinvasion. At our knowledge, this the second case of glomeruloid follicular tumor in the literature and the first case in which Alcian Blue staining was used to investigate capsular invasion. Moreover, RAS mutation further supports that this is a variant of follicular tumor with uncertain malignant potential.
Case report: High-risk acute promyelocytic leukemia and COVID-19-related myocarditis one patient, two cytokine storms
Authors: Alexandra Ghiaur, Cristina Doran, Bogdan Ionescu, Lacramioara-Andreea Mohorea-Neata, Camelia Stancioaica, Roxana Hirjan, Aurelia Tatic, Mihaela Cirstea, Didona Vasilache, Dana Tabac, Ioana Lupescu, Daniel Coriu
Journal: Front Oncol (2023)
Keywords: covid-19, acute promyelocytic leukemia, differentiation syndrome, immunomodulators, myocarditis
MeSH terms: Case Reports

Acute promyelocytic leukemia (APL) is a unique, highly curable subtype of acute myeloid leukemia, owing to the therapeutic advances of the last decades which led to high complete remission rates and excellent long-term survival. Nevertheless, it remains associated with high early mortality rates. Early death is the major cause of treatment failure in APL and is mainly attributed to coagulopathy, differentiation syndrome, and less commonly, infectious events. Timely recognition of each complication plays a crucial role in the management of patients diagnosed with APL. Coronavirus Infectious Disease 2019 (COVID-19) has shown great heterogeneity in patient presentation. Clinical manifestations range from asymptomatic disease to severe forms, mainly characterized by a hyperinflammatory syndrome leading to acute respiratory distress and multiorgan failure. Patients with acute leukemia and concomitant COVID-19-related hyperinflammatory syndrome have particularly poor outcomes. We hereby report the case of a 28-year-old male patient who was diagnosed with high-risk APL, with severe associated coagulopathy at presentation. He was treated with chemotherapy according to the AIDA regimen. The first week of induction therapy was complicated by a differentiation syndrome manifesting as fever not attributable to infection and respiratory distress with pulmonary infiltrates, resolved after ATRA discontinuation and corticotherapy. On the fourth week of treatment, he tested positive for acute respiratory syndrome coronavirus 2 (SARS-CoV-2) with minor pulmonary involvement. Clinical manifestations over the following days included tachycardia and hypotension, associated with elevated inflammatory markers and cardiac biomarkers (troponin I x58 upper NV). Cardiovascular magnetic resonance imaging was consistent with myocarditis. COVID-19-associated myocarditis was successfully treated with methylprednisolone, intravenous immunoglobulins and Anakinra. Differentiation syndrome and COVID-19-associated myocarditis are two life-threatening complications that adversely impact survival. However, early recognition and prompt treatment initiation can improve clinical outcomes, as was the case of our patient.
Temozolomide and Capecitabine Treatment for an Aggressive Somatotroph Pituitary Tumor: A Case Report and Literature Review
Authors: Atsushi Ishida, Hiroki Shichi, Hidenori Fukuoka, Hideki Shiramizu, Naoko Inoshita, Shozo Yamada
Journal: Front Oncol (2022)
Keywords: 3d spheroid ex vivo assay, o6-methylguanine dna methyltransferase, aggressive somatotroph pituitary tumor, capecitabine, temozolomide
MeSH terms: Case Reports

Aggressive somatotroph pituitary tumor that causes acromegaly is extremely rare and resists conventional treatments such as multiple surgeries, radiotherapies, and various types of somatostatin analogs. Here, we propose a novel treatment option for these rare cases by discussing our case and reviewing the literature. We experienced an aggressive somatotroph tumor in a 52-year-old woman with acromegaly. Not only could a complete remission of growth hormone (GH) and insulin-like growth factor-1 (IGF-1) not be obtained, but the tumor continued to grow and eventually recurred around the brainstem despite multidisciplinary treatments. We employed immunohistochemistry and a three-dimensional (3D) spheroid ex vivo assay to determine the best treatment option for this case. Although histology showed strong O 6-methylguanine DNA methyltransferase expression and high Ki-67 labeling index (22%), temozolomide (TMZ) combined with capecitabine (CAPTEM) treatment was performed based on the results of the patient-derived 3D spheroid ex vivo assay, which predicted more effective treatment with CAPTEM than with TMZ alone. Consequently, GH and IGF-1 levels were restored to normal range with remarkable tumor shrinkage after CAPTEM treatment. To the best of our knowledge, there have been even very few reports describing successful treatment for such aggressive and refractory somatotroph tumors and this is the first report showing the effectiveness of CAPTEM on refractory somatotroph tumor both ex vivo and in vivo.
Case Report: Probable Cerebral Amyloid Angiopathy-Related Inflammation During Bevacizumab Treatment for Metastatic Cervical Cancer
Authors: Tatiana Koudriavtseva, Svetlana Lorenzano, Vincenzo Anelli, Domenico Sergi, Annunziata Stefanile, Enea Gino Di Domenico, Marta Maschio, Edvina Galiè, Carlo Piantadosi
Journal: Front Oncol (2021)
Keywords: bevacizumab, case report, cerebral amyloid angiopathy-related inflammation, metastatic cervical cancer, microhemorrhages 3
MeSH terms: Case Reports

Bevacizumab is an anti-angiogenic monoclonal antibody targeting Vascular Endothelial Growth Factor (VEGF) that induces the proliferation and migration of vascular endothelial cells thus, promoting vasculogenesis. Bevacizumab inhibits cancer angiogenesis, which is fundamental for either tumor development, exponential growth, or metastatic spread by supplying nutrients and oxygen. We report a new possible adverse event of bevacizumab, a Cerebral Amyloid Angiopathy-Related Inflammation (CAARI), in a 72-year-old woman with metastatic cervical cancer. After six cycles every three weeks of chemotherapy (cisplatin, paclitaxel, bevacizumab) and following two maintenance bevacizumab administrations, the patient presented a worsening confusional state. The MRI scan showed bilateral asymmetric temporo-parieto-occipital hyperintensity with numerous cortical microbleeds indicative of a CAARI. After stopping bevacizumab treatment, steroid therapy was administered resulting in rapid clinical improvement. The subsequent neurological and oncological follow-up was negative for recurrence. The patient was a heterozygote carrier for apolipoprotein-E ε4 that increases the risk of sporadic Cerebral Amyloid Angiopathy (CAA), which is characterized by beta-amyloid accumulation and fibrinoid necrosis in cerebral vasculature leading to micro/macrohemorrhages and dementia. Moreover, CAA is present in 30% of people aged over 60 years without dementia. In the brains of CAA patients, there is a proinflammatory state with cerebrovascular endothelial cell alteration and elevated levels of either adhesion molecules or inflammatory interleukins that increase the blood-brain barrier permeability. Moreover, CAARI is an inflammatory form of CAA. Inhibition of VEGF, which has anti-apoptotic, anti-inflammatory, and pro-survival effects on endothelial cells, impairs their regenerative capacity and increases expression of proinflammatory genes leading to weakened supporting layers of blood vessels and, hence, to damaged vascular integrity. In our patient, bevacizumab administration may have further increased permeability of cerebral microvasculature likely impaired by an underlying, asymptomatic CAA. To our knowledge, this is the first case reporting on the development of probable CAARI during bevacizumab treatment, which should alert the clinicians in case of neurological symptom onset in older patients under anti-angiogenic therapy.
Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant of MYOM2
Authors: Jing Wang, Chunyan Wang, Haiyang Xie, Xiaoyuan Feng, Lei Wei, Binbin Wang, Tengyan Li, Mingan Pi, Li Gong
Journal: Front Cardiovasc Med (2022)
Keywords: myom2, tetralogy of fallot, heterozygous variant, incomplete penetrance, whole exome sequencing
MeSH terms: Case Reports

Background:
Rare genetic variants have been identified to be important contributors to the risk of Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease (CHD). But relatively limited familial studies with small numbers of TOF cases have been reported to date. In this study, we aimed to identify novel pathogenic genes and variants that caused TOF in a Chinese family using whole exome sequencing (WES).
Methods:
A Chinese family whose twins were affected by TOF were recruited for this study. A WES was performed for the affected twins, their healthy brother, and parents to identify the potential pathogenic mutated gene(s). Heterozygous variants carried by the twins, but not the unaffected brother, were retained. Public databases were used to assess the frequencies of the selected variants, and online prediction tools were accessed to predict the influences of these variants on protein function. The final candidate variant was further confirmed by Sanger sequencing in other members of the family.
Results:
After several filtering processes, a heterozygous missense variant in the MYOM2 gene (NM_003970.4:c.3097C>T:p.R1033C) was identified and confirmed by Sanger sequencing in the affected twins and their unaffected father, suggesting an inheritance pattern with incomplete penetrance. The variant was found to be extremely rare in the public databases. Furthermore, the mutated site was highly conserved among mammals, and as shown using multiple online prediction tools, this variant was predicted to be a detrimental variant.
Conclusion:
We assessed a family with TOF caused by a rare heterozygous missense variant of MYOM2. Our findings not only further confirm the significant role of genetics in the incidence of TOF but also expand the spectrum of the gene variants that lead to TOF.
Severe Presentation of Nontypeable Haemophilus influenzae (NTHi) Infection in a Previously Healthy Toddler
Authors: Eiman Al Boloushi, Abdulla Al Amri, Ghassan Ghatasheh, Huda Al Dhanhani
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Background:
Cellulitis is the inflammation of the skin and subcutaneous tissue. It is usually caused by Gram-positive organisms such as Staphylococcus and Streptococcus pyogenes infection. Nontypeable Haemophilus influenzae (NTHi) is an uncommon cause of cellulitis. Hence, we report on this case.
Case presentation:
A previously healthy 19-month-old girl presented with a fever and two-day history of progressive right leg swelling and redness. Her physical examination revealed significant induration and swelling of her right lower leg but no obvious signs of abscess formation. Given the clinical picture, she was admitted as a case of cellulitis. Parenteral clindamycin was started empirically, as the blood culture preliminary report showed Gram-negative rods. Ceftriaxone was added to broaden the coverage. Final blood culture grew NTHi. Despite the use of proper antibiotics (amoxicillin clavulanic acid), the clinical course was complicated with abscess formation that required surgical intervention.
Conclusions:
We are reporting a previously healthy child who developed NTHi cellulitis of the lower leg. To the best of our knowledge, there have been no formal reports pertaining to leg cellulitis following infection by NTHi, yet published in UAE, and reports of HIB cellulitis of the extremities still appear to be rare; hence, we report on this case.