OpenMed/multicare-articles huggingface dataset:
Composite Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma and T-Prolymphocytic Leukemia Presenting with Lymphocytosis, Skin Lesions, and Generalized Lymphadenopathy
Authors: Ali Sakhdari, Guilin Tang, Lawrence E Ginsberg, Cheryl F Hirsch-Ginsberg, Carlos E Bueso-Ramos, L Jeffrey Medeiros, Roberto N Miranda
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Chronic lymphocytic leukemia (CLL) is the most common type of leukemia in Western countries with an incidence of 3-5 cases per 100,000 persons. Most patients follow an indolent clinical course with eventual progression and need for therapy. In contrast, T-prolymphocytic leukemia (T-PLL) is a rare type of T-cell leukemia with most patients having an aggressive clinical course and a dismal prognosis. Therapies are limited for T-PLL patients and there is a high relapse rate. Morphologically, the cells of CLL and T-PLL can show overlapping features. Here, we report the case of a 61-year-old man who presented with a clinically indolent CLL and T-PLL, initially diagnosed solely and followed as CLL, despite the presence of an associated but unrecognized aberrant T-cell population in blood. After 2 years, the T-PLL component became more apparent with cutaneous and hematologic manifestations and the diagnosis was confirmed by immunophenotypic and cytogenetic analysis. Fluorescence in situ hybridization demonstrated an ATM deletion in both CLL and T-PLL components. Retrospective testing demonstrated that composite CLL and T-PLL were both present in skin and lymph nodes as well as in blood and bone marrow since initial presentation. This case is also unique because it highlights that a subset of T-PLL patients can present with clinically indolent disease. The concomitant detection of ATM mutation in CLL and T-PLL components raises the possibility of a common pathogenic mechanism.
Wolfram syndrome: new mutations, different phenotype
Authors: Concetta Aloi, Alessandro Salina, Lorenzo Pasquali, Francesca Lugani, Katia Perri, Chiara Russo, Ramona Tallone, Gian Marco Ghiggeri, Renata Lorini, Giuseppe d'Annunzio
Journal: PLoS One (2012)
MeSH terms: Mutation / physiology, Wolfram Syndrome / genetics, Case Reports, Adolescent, Child, Fatal Outcome, Female, Humans, Male, Phenotype, Wolfram Syndrome / diagnosis, Young Adult

Background:
Wolfram Syndrome (WS) is an autosomal recessive neurodegenerative disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness identified by the acronym "DIDMOAD". The WS gene, WFS1, encodes a transmembrane protein called Wolframin, which recent evidence suggests may serve as a novel endoplasmic reticulum calcium channel in pancreatic β-cells and neurons. WS is a rare disease, with an estimated prevalence of 1/550.000 children, with a carrier frequency of 1/354. The aim of our study was to determine the genotype of WS patients in order to establish a genotype/phenotype correlation.
Methodology/principal findings:
We clinically evaluated 9 young patients from 9 unrelated families (6 males, 3 females). Basic criteria for WS clinical diagnosis were coexistence of insulin-treated diabetes mellitus and optic atrophy occurring before 15 years of age. Genetic analysis for WFS1 was performed by direct sequencing. Molecular sequencing revealed 5 heterozygous compound and 3 homozygous mutations. All of them were located in exon 8, except one in exon 4. In one proband only an heterozygous mutation (A684V) was found. Two new variants c.2663 C>A and c.1381 A>C were detected.
Conclusions/significance:
Our study increases the spectrum of WFS1 mutations with two novel variants. The male patient carrying the compound mutation [c.1060_1062delTTC]+[c.2663 C>A] showed the most severe phenotype: diabetes mellitus, optic atrophy (visual acuity 5/10), deafness with deep auditory bilaterally 8000 Hz, diabetes insipidus associated to reduced volume of posterior pituitary and pons. He died in bed at the age of 13 years. The other patient carrying the compound mutation [c.409_424dup16]+[c.1381 A>C] showed a less severe phenotype (DM, OA).
Union of an intra-articular distal radius fracture after successive failures of three locking plates: a case report
Authors: S K Khan, C Gozzard
Journal: Strategies Trauma Limb Reconstr (2012)

We report a case of a 30-year old male, who presented with a right distal radius intra-articular fracture complicated by compartment syndrome. He was treated with fasciotomies and fracture fixation with a 3.5 mm LCP (Synthes(™)), followed 7 days later by skin graft. Repeat radiographs 8 weeks later showed a break across the plate at the level of an unfilled screw hole over the fracture. He underwent exchange plating with a 2.4 mm LCP Distal Radius Plate (Synthes(™)). This revision was complicated by an infected wound dehiscence 2 weeks later requiring multiple procedures. Radiographs at 20 weeks showed broken distal screws. A second revision was performed. At 12 months, the fracture had healed clinically and radiologically, but the three distal screws had broken. We discuss the multifactorial failures of the these three attempts at osteosynthesis, and which factors helped achieve osseous union. We also discuss the literature on volar locking plate breakage and conclude with the recommendations to avoid this rare complication.
Treatment of digital ischemia with liposomal bupivacaine
Authors: José Raul Soberón, Scott F Duncan, W Charles Sternbergh
Journal: Case Rep Anesthesiol (2014)

Objective. This report describes a case in which the off-label use of liposomal bupivacaine (Exparel) in a peripheral nerve block resulted in marked improvement of a patient's vasoocclusive symptoms. The vasodilating and analgesic properties of liposomal bupivacaine in patients with ischemic symptoms are unknown, but our clinical experience suggests a role in the management of patients suffering from vasoocclusive disease. Case Report. A 45-year-old African American female was admitted to the hospital with severe digital ischemic pain. She was not a candidate for any vascular surgical or procedural interventions. Two continuous supraclavicular nerve blocks were placed with modest clinical improvement. These effects were also short-lived, with the benefits resolving after the discontinuation of the peripheral nerve blocks. She continued to report severe pain and was on multiple anticoagulant medications, so a decision was made to perform an axillary nerve block using liposomal bupivacaine (Exparel) given the compressibility of the site as well as the superficial nature of the target structures. Conclusions. This case report describes the successful off-label usage of liposomal bupivacaine (Exparel) in a patient with digital ischemia. Liposomal bupivacaine (Exparel) is currently FDA approved only for wound infiltration use at this time.
Combined scleral buckling and phacoemulsification
Authors: Pukhraj Rishi, Tarun Sharma, Ekta Rishi, Soumendra P Chaudhary
Journal: Oman J Ophthalmol (2009)
Keywords: cataract, phacoemulsification, retinal detachment, scleral buckling

Aims:
To analyze the outcome of combined scleral buckling and phacoemulsification for primary rhegmatogenous retinal detachment and visually significant cataract.
Settings and design:
Retrospective, interventional case series.
Materials and methods:
Retrospective review of patients with primary rhegmatogenous detachment with or without proliferative vitreoretinopathy (PVR) changes and visually significant cataract who underwent combined scleral buckling and phacoemulsification with or without intraocular lens (IOL) implantation between 1991 and 2006. Of the ten eyes, all underwent phacoemulsification and five eyes had posterior chamber Intraocular lens (PC IOL) implantation. All eyes underwent scleral buckling with solid silicone explant combined with #240 encircling band. Subretinal fluid (SRF) drainage was done in five eyes
Results:
Four eyes improved to better than 6/12 at a mean follow-up of 9 months. Anatomical success was achieved in all eyes (100%).
Conclusion:
Combined scleral buckling and phacoemulsification is a safe and effective procedure that spares the patient the burden of repeated surgeries. It may be considered as a treatment option in selected cases of rhegmatogenous retinal detachment with significant cataract with/without early PVR.
Acute infectious thyroiditis in ectopic lingual thyroid causing dysphagia and dyspnoea: a case report and discussion
Authors: Marika Kalnina, Anda Pramalte, Liene Zemniece, Yegor Safronov
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Acute infectious thyroiditis in patients with ectopic lingual thyroid gland is extremely rare, and in most cases, this condition, if symptomatic, manifests as dysphagia and dyspnoea. This case report shows that, in addition to the previously mentioned typical symptoms, our patient also suffered from febrile temperature, progressive fullness in the throat and pain during swallowing. Diagnosis of acute infectious thyroiditis associated with lingual thyroid gland is complex and requires evaluation of results of clinical findings and laboratory tests, and also evaluation by radiological diagnostic methods. Treatment was performed by administering antibacterial and anti-inflammatory therapy, resulting in the disappearance of complaints. Clinical appearance, diagnostic methods and treatment options are discussed in the discussion section.
An Erupted Dilated Odontoma: A Rare Presentation
Authors: Gaurav Sharma, Amritpreet Nagra, Gurkeerat Singh, Archna Nagpal, Atul Soin, Vishal Bhardwaj
Journal: Case Rep Dent (2016)

A dilated odontoma is an extremely rare developmental anomaly represented as a dilatation of the crown and root as a consequence of a deep, enamel-lined invagination and is considered a severe variant of dens invaginatus. An oval shape of the tooth lacking morphological characteristics of a crown or root implies that the invagination happened in the initial stages of morphodifferentiation. Spontaneous eruption of an odontoma is a rare occurrence and the occurrence of a dilated odontoma in a supernumerary tooth is even rarer with only a few case reports documented in the English literature. We present an extremely rare case of erupted dilated odontoma occurring in the supernumerary tooth in anterior maxillary region in an 18-year-old male, which, to the best of our knowledge, is the first ever case reported in English literature.
Case report: Conversion therapy to permit resection of initially unresectable hepatocellular carcinoma
Authors: Kang Chen, Cheng-Piao Luo, De-Xiang Ge, Ke-Lin Wang, Qin Luo, Yan-Zhi Li, Xue-Mei You, Bang-De Xiang, Le-Qun Li, Liang Ma, Jian-Hong Zhong
Journal: Front Oncol (2022)
Keywords: conversion therapy, hepatocellular carcinoma, immune checkpoint inhibitor, transarterial chemoembolization, tyrosine kinase inhibitor
MeSH terms: Case Reports

Most patients with hepatocellular carcinoma (HCC) are diagnosed when the disease is already at an advanced stage, so they are not eligible for resection and their prognosis is poor. The combination of transarterial chemoembolization (TACE) with immune checkpoint inhibitors or tyrosine kinase inhibitors can improve unresectable HCC to the point that patients can be treated with surgery. Here we describe two cases of such "conversion therapy". One patient was a 52-year-old man in Child-Pugh class A with treatment-naive HCC whose 11.3-cm tumor had invaded the middle hepatic vein and right branch of the portal vein. He was treated with TACE plus camrelizumab, and radical resection was performed 3 months later. No evidence of recurrence was observed during 5-month follow-up. The other patient was a 42-year-old man in Child-Pugh class A with HCC involving a 11.4-cm tumor and severe liver cirrhosis. The patient was treated with TACE and lenvatinib, but the embolic effect after one month was unsatisfactory, so the regional treatment was changed to hepatic artery infusion chemotherapy and transcatheter arterial embolization. Radical resection was performed 2 months later, and no recurrence was evident at 1-month follow-up. These cases demonstrate two conversion therapies that may allow patients with initially unresectable HCC to benefit from resection.
Omental herniation: a rare complication of vacuum-assisted closure of infected sternotomy wound
Authors: Philemon Gukop, Madhan Kumar Kuppuswamy, Antonios Kourliouros, Venkatachalam Chandrasekaran
Journal: Case Rep Cardiol (2012)
MeSH terms: Case Reports

Vacuum-assisted closure (VAC) has recently been adopted as an acceptable modality for management of sternotomy wound infections. Although generally efficacious, the use of negative pressure devices has been associated with complications such as bleeding, retention of sponge, and empyema. We report the first case of greater omental hernia as a rare complication of vacuum-assisted closure of sternal wound infection following coronary artery bypass grafting.
Werner's Syndrome: Understanding the Phenotype of Premature Aging-First Case Described in Colombia
Authors: A Rincón, L Mora, F Suarez-Obando, J A Rojas
Journal: Case Rep Genet (2019)
MeSH terms: Case Reports

Werner's syndrome (WS) is an autosomal recessive genetic disease, which is mainly characterized by scleroderma-like skin changes, juvenile cataracts, short stature, and signs of premature aging. We report a case of a 48-year-old male patient, who presents with cardinal signs of WS including high-pitched voice, sclerotic skin lesions mainly on feet, premature greying of scalp hair, bilateral cataracts, and "bird-like" facial appearance. In addition, the patient presents other clinical characteristics observed in patients with WS such as short stature, type 2 diabetes mellitus, hypogonadism, parental consanguinity, and a history of a sibling with similar clinical characteristics. WRN gene sequencing identified the homozygous pathogenic variant NM_00553.4: c.2581C>T (NP_000544.2: pGln861Ter). This is the first case of WS reported in the Colombian population. We report this case to avoid misdiagnosis of this infrequent condition and allow timely identification of potential complications associated with premature aging, especially malignancies, cardiovascular and metabolic diseases.
Powassan Encephalitis: A Case Report from New York, USA
Authors: Danielle A Bazer, Matthew Orwitz, Nicholas Koroneos, Olga Syritsyna, Elizabeth Wirkowski
Journal: Case Rep Neurol Med (2022)
MeSH terms: Case Reports

Background:
Powassan is a positive-sense, single-stranded, enveloped RNA virus that is a tick-borne Flavivirus, transmitted by Ixodes species, with groundhogs being the usual mammalian host. The virus is endemic to North America, with peak transmission during the summer and fall. The incubation period is 7-34 days, followed by a prodrome of flu-like symptoms. Although most infected individuals are asymptomatic, the virus can penetrate the CNS to produce a viral encephalitis. The key to the diagnosis is a positive serology.
Results:
The patient is a 62-year-old male with a past history of a right putamen infarct, hepatitis C, hypertension, and substance abuse who presented due to acute onset altered mental status, dysarthria, and left-sided facial droop. He had several tick bites around the time of presentation in December. He was empirically treated for possible meningitis, as CSF revealed WBC 370 (80% mononuclear cells); RBC 10, protein 152 mg/dL, and glucose 59 mg/dL. An MRI scan of the brain showed a subacute left putamen stroke. MRAs of the head and neck were unremarkable. A Mayo Clinic Encephalopathy Panel was unremarkable; however, a New York State Arbovirus panel revealed Powassan IgM ELISA as well as Powassan Polyvalent microsphere immunofluorescence assay reactivity. His hospital course was complicated by critical illness myopathy and respiratory failure requiring tracheostomy.
Conclusion:
The Powassan virus is a known etiology for encephalitis in North America. Although the peak incidence of transmission is in the summer and fall, this does not exclude transmission during other seasons. Due to the increasing prevalence of Powassan virus in Lyme-endemic areas particularly in the Midwest and Northeast, United States, patients with an unexplained altered mental status in these regions should be screened for Powassan virus, regardless of the time of year.
Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia
Authors: Wen-Hsuan Tsai, Chian-Huey Wong, Shuen-Han Dai, Chung-Hsin Tsai, Yi-Hong Zeng
Journal: Front Endocrinol (Lausanne) (2020)
Keywords: 17-ohp, adrenal tumor, androgen, infertility, non-classic congenital adrenal hyperplasia
MeSH terms: Adrenal Cortex Neoplasms / diagnosis, Adrenal Hyperplasia, Congenital / diagnosis, Adrenalectomy, Adrenocortical Adenoma / diagnosis, Case Reports, Adrenal Cortex Neoplasms / pathology, Adrenal Cortex Neoplasms / surgery, Adrenal Hyperplasia, Congenital / blood, Adrenal Hyperplasia, Congenital / pathology, Adrenocortical Adenoma / pathology, Adrenocortical Adenoma / surgery, Adrenocorticotropic Hormone / blood, Adult, Aldosterone / blood, Diagnosis, Differential, Female, Humans, Hydrocortisone / blood, Treatment Outcome, Aldosterone, Adrenocorticotropic Hormone, Hydrocortisone

Elevated 17-hydroxyprogesterone may be caused by congenital adrenal hyperplasia, ovarian or adrenal tumors. A positive cosyntropin stimulation test result for 17-hydroxyprogesterone may be found in functional or non-functional tumors and be related to tumor size. Here, we present a case of a 36-year-old woman with a 4-year history of infertility. Laboratory test results revealed elevated progesterone and 17-hydroxyprogesterone, with normal luteinizing hormone, follicle-stimulating hormone, estrogen, testosterone, and anti-Mullerian hormone levels. The 250-μg cosyntropin stimulation test revealed a 17-hydroxyprogesterone level of 11.3 ng/ml (34.3 nmol/L) and 31.8 ng/ml (96.2 nmol/L) at 0 and 60 min, respectively. Non-classic congenital adrenal hyperplasia was diagnosed initially; however, genetic testing revealed no 21-hydroxylase deficiency. She received dexamethasone but progesterone and 17-hydroxyprogesterone levels remained high. Abdominal computed tomography found a 4.5 × 4.8-cm left adrenal tumor. Subsequent pathological report was compatible with an adrenal cortical adenoma. Progesterone and 17-hydroxyprogesterone levels returned to the normal range postoperatively and the 250-μg cosyntropin stimulation test of 17-hydroxyprogesterone showed a normal response. When biochemically diagnosed NCCAH demonstrate no typical features and show poor response to steroid, the patient should undergo gene mutation analysis and receive adrenal or ovarian imaging. For women suffering from infertility, adrenalectomy of 17-OHP secreting adrenal tumor may improve fertility outcome.
Breast reconstruction after nipple/areola-sparing mastectomy using cell-enhanced fat grafting
Authors: C Calabrese, L Orzalesi, D Casella, L Cataliotti
Journal: Ecancermedicalscience (2009)

Background:
The success of fat grafting in breast reconstruction depends on fat retention. The use of stem-cells-enriched fat graft is an alternative method for graft stability.
Case report:
A case of nipple-areola sparing mastectomy double stage reconstruction with the use of stem cells enhanced fat graft is reported.
Conclusions:
Fat grafting is growing as a new and promising tool in reconstruction following nipple and areola sparing mastectomies as a way to restore a sufficient and reliable subcutaneous space in the mastectomy flap. This combined with an anatomical gel implant offers an integrated system of achieving a natural shaped breast.
Coexistence of atypical hemolytic uremic syndrome and crescentic IgA nephropathy treated with eculizumab: a case report
Authors: Daisuke Matsumura, Atsushi Tanaka, Tsukasa Nakamura, Eiichi Sato, Koichi Node
Journal: Clin Nephrol Case Stud (2016)
Keywords: acute kidney injury, atypical hemolytic uremic syndrome, crescentic iga nephropathy, eculizumab, end-stage renal disease, plasma exchange
MeSH terms: Case Reports

Rapid progression to end-stage renal disease has been reported in a minority of patients with immunoglobulin A (IgA) nephropathy. In particular, crescentic IgA nephropathy has a poor prognosis in patients with a higher initial serum creatinine level. The complement system plays an important role in the pathogenesis of crescentic IgA nephropathy. Atypical hemolytic uremic syndrome (aHUS), which is characterized by thrombotic microangiopathy, is distinct from Shigatoxin-induced HUS and thrombotic thrombocytopenic purpura. aHUS is associated with dysregulation of the alternative complement system. Eculizumab, an anti-C5 antibody, is effective in limiting complement activation in patients with paroxysmal nocturnal hemoglobinuria, aHUS, or refractory IgA nephropathy in some case reports. We herein report the case of a 42-year-old man with acute kidney injury (AKI) clinically and histologically diagnosed with the coexistence of aHUS and crescentic IgA nephropathy. The patient was treated with steroids, plasmapheresis, and hemodialysis; however, eculizumab treatment was initiated on hospital day 21 due to resistance to and dependence on the conventional aggressive therapy. Clinical remission of aHUS was achieved on day 70, but the renal function failed to recover from dialysis dependence. To the best of our knowledge, this is the first report showing the clinical course of a refractory patient with the coexistence of aHUS and crescentic IgA nephropathy treated with eculizumab. This case highlights the clinical importance of early diagnosis and appropriate initiation of eculizumab for the treatment of this type of AKI.
Teacher and Peer Responses to Warning Behavior in 11 School Shooting Cases in Germany
Authors: Nora Fiedler, Friederike Sommer, Vincenz Leuschner, Nadine Ahlig, Kristin Göbel, Herbert Scheithauer
Journal: Front Psychol (2020)
Keywords: case study, school shooting, targeted school violence, threat assessment, warning behaviors

Warning behavior prior to an act of severe targeted school violence was often not recognized by peers and school staff. With regard to preventive efforts, we attempted to identify barriers to information exchange in German schools and understand mechanisms that influenced the recognition, evaluation, and reporting of warning behavior through a teacher or peer. Our analysis is based on inquiry files from 11 cases of German school shootings that were obtained during the 3-year research project "Incident and case analysis of highly expressive targeted violence (TARGET)." We conducted a qualitative retrospective case study to analyze witness reports from school staff and peers. Our results point to subjective explanations used by teachers and peers toward conspicuous behavior (e.g., situational framing and typical adolescent behavior), as well as reassuring factors that indicated harmlessness (e.g., no access to a weapon). Additionally, we found organizational barriers similar to those described in US-American case studies (e.g., organizational deviance).