OpenMed/multicare-articles huggingface dataset:
A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family
Authors: Hui Xi, Ying Peng, Wanqin Xie, Jialun Pang, Na Ma, Shuting Yang, Jinping Peng, Hua Wang
Journal: Mol Cytogenet (2020)
Keywords: 1q22, ash1l, intellectual disability, microdeletion, prenatal diagnosis
MeSH terms: Case Reports

Background:
Copy number variants (CNVs) associated with developmental delay and intellectual disability (DD/ID) continue to be identified in patients. This article reports identification of a chromosome 1q22 microdeletion as the genetic cause in a Chinese family affected by ID.
Case presentation:
The proband was a 19-year-old pregnant woman referred for genetic counseling and prenatal diagnosis at 18 weeks of gestation. She had severe ID with basically normal stature (height 154 cm [0 SD], weight 61 kg [- 0.2 SD], and head circumference 54 cm [- 1.12 SD]). Her distinctive facial features included a prominent forehead; flat face; flat nasal bridge and a short upturned nose; thin lips; and small ears. The proband's father was reported to have low intelligence, whereas her mother was of normal intelligence but with scoliosis. Chromosome microarray analysis (CMA) reveals that the proband, her father and the fetus all carry a 1q22 microdeletion of 936.3 Kb (arr[GRCh37] 1q22 (155016052_155952375)×1), which was not observed in her mother and paternal grandparents and uncles, suggesting a de novo mutation in the proband's father. The microdeletion involves 24 OMIM genes including ASH1L (also known as KMT2H and encoding a histone lysine methyltransferase). Of note, haploinsufficiency of ASH1L has been shown to be associated with neurodevelopmental disorders. Based on the inheritance of the detected CNV in the pedigree and similar CNVs associated with ID in public databases (Decipher, DGV and ClinVar) and literature, the detected CNV is considered as pathogenic. The family chose to terminate the pregnancy.
Conclusions:
The identified 1q22 microdeletion including ASH1L is pathogenic and associated with ID. This case broadens the spectrum of ID-related CNVs and may be useful as a reference for clinicians.
A (1;19) translocation involving TCF3-PBX1 fusion within the context of a hyperdiploid karyotype in adult B-ALL: a case report and review of the literature
Authors: Carlos A Tirado, David Shabsovich, Lei Yeh, Sheeja T Pullarkat, Lynn Yang, Michael Kallen, Nagesh Rao
Journal: Biomark Res (2015)
Keywords: b-all, fish, tcf3-pbx1, cytogenetics, hyperdiploidy

Background:
The t(1;19)(q23;p13), which can result in the TCF3-PBX1 chimeric gene, is one of the most frequent translocations in B-acute lymphoblastic leukemia (B-ALL) and is observed in both adult and pediatric populations at an overall frequency of 6%. It can occur in a balanced or unbalanced form and as a sole abnormality is associated with an intermediate prognosis. Additionally, this translocation is observed in the context of hyperdiploid B-ALL, in which case it is associated with a poor prognosis. However, due to different translocation partner genes at chromosomes 1 and 19, distinct subtypes of hyperdiploid B-ALL with t(1;19)/der(19)t(1;19) are recognized based on the presence or absence of the TCF3-PBX1 fusion gene, but the cytogenetic and etiologic differences between the two remain understudied.
Findings:
We report a case of an adult with a history of relapsed precursor B-ALL whose conventional cytogenetics showed an abnormal female karyotype with both hyperdiploidy and a t(1;19)(q23;p13). Fluorescence in situ hybridization (FISH) on previously G-banded metaphases using the LSI TCF3/PBX1 Dual Color, Dual Fusion Translocation Probe confirmed the presence of the TCF3-PBX1 gene fusion.
Conclusions:
This particular pattern with a TCF3-PBX1 fusion within the context of a hyperdiploid karyotype is seen in B-ALL and is usually associated with a poor outcome. This case is one of only a few cases with both hyperdiploidy and a confirmed TCF3-PBX1 fusion, demonstrating the importance of using FISH for proper molecular classification of these cases in order to distinguish them from those with hyperdiploidy but no TCF3-PBX1 fusion gene. Such molecular studies may provide insight into the precise differences between TCF3-PBX1 positive and negative hyperdiploid B-ALL bearing the t(1;19)(q23;p13).
An outbreak of Leptospirosis among United States military personnel in Guam
Authors: Alyson J Brinker, David L Blazes
Journal: Trop Dis Travel Med Vaccines (2017)
Keywords: infectious disease, leptospirosis, travel medicine
MeSH terms: Case Reports

Background:
Leptospirosis is a bacterial zoonotic disease with worldwide distribution.
Case presentation:
We describe and discuss the clinical course of a leptospirosis outbreak in a running club called the hash house harriers on Guam.
Conclusions:
Leptospirosis is a potentialy life threatening disease, and has had a reemergence given the popularity of travel adventure sports, teams, and clubs around the world. This case presentation highlights the robust prescence of leptospirosis on Guam.
Mönckeberg's sclerosis - is the artery the only target of calcification?
Authors: Carlos Eduardo Barra Couri, Geruza Alves da Silva, José Antônio Baddini Martinez, Francisco de Assis Pereira, Francisco José Albuquerque de Paula
Journal: BMC Cardiovasc Disord (2005)
MeSH terms: Calcinosis / pathology, Monckeberg Medial Calcific Sclerosis / pathology, Case Reports, Research Support, Non-U.S. Gov't, Brazil, Calcinosis / complications, Female, Femoral Artery / pathology, Humans, Middle Aged, Monckeberg Medial Calcific Sclerosis / complications, Pharynx / pathology, Sleep Apnea, Obstructive / etiology, Sleep Apnea, Obstructive / pathology

Background:
Since its first description, Mönckeberg's sclerosis has only been related to arterial media calcification, being listed among the primary diseases of the vessels.
Case presentation:
We report here a clinically and histologically confirmed case of Mönckeberg's sclerosis in which the patient presented with massive areas of soft tissue calcifications in the pharynx and larynx. Polysomnographic parameters showed severe obstructive apnea refractory to nasal continuous positive airway pressure. Clinical and laboratory findings excluded concomitant endocrine or rheumatological diseases.
Conclusion:
Our data provide a new insight about Mönckeberg's sclerosis, i.e., the fact that the etiopathogenic process involved in the phenomenon of calcification may not be restricted only to the arteries, but may occur in the entire organism. Further studies of the etiopathogenesis of this disease are needed.
Fatality after deliberate ingestion of sustained-release ibuprofen: a case report
Authors: David Michael Wood, Jane Monaghan, Peter Streete, Alison Linda Jones, Paul Ivor Dargan
Journal: Crit Care (2006)
MeSH terms: Ibuprofen / poisoning, Case Reports, Adult, Delayed-Action Preparations / poisoning, Drug Overdose, Fatal Outcome, Female, Humans, Suicide, Unconsciousness / chemically induced, Unconsciousness / physiopathology, Delayed-Action Preparations, Ibuprofen

Introduction:
Ibuprofen is a nonsteroidal anti-inflammatory drug available over the counter and on prescription for the management of pain and inflammation. Severe toxicity is rare following deliberate self-poisoning with ibuprofen, and patients are usually either asymptomatic or develop only mild gastrointestinal toxicity. Although there have been nine other reported fatalities, co-existent factors have probably contributed to all of these deaths. We report here a fatality from isolated toxicity following self-poisoning with sustained-release ibuprofen.
Case report:
A 26-year-old female presented after deliberate ingestion of up to 105 g sustained-release ibuprofen, with a reduced level of consciousness, severe metabolic acidosis and haemodynamic compromise. Despite intensive supportive management, gut decontamination with multidose activated charcoal and correction of the metabolic acidosis with sodium bicarbonate and haemofiltration, the patient did not survive. The ibuprofen concentration ante mortem on presentation in peripheral blood was 760 mg/l and the concentrations post mortem were 518 mg/l in peripheral blood, 74 mg/kg in liver extract and 116 mg/l in the gastric contents.
Discussion:
Most patients with ibuprofen poisoning are either asymptomatic or have mild gastrointestinal symptoms; severe poisoning with ibuprofen is rare. We report the first death related to isolated sustained-release ibuprofen poisoning.
Metachronous pancreatic cancer 18 years after resection of common bile duct cancer: A case report
Authors: Seoung Hoon Kim
Journal: Front Surg (2022)
Keywords: common bile duct cancer, follow-up, metachronous double cancer, pancreatic cancer, survival
MeSH terms: Case Reports

We report an extremely rare case of metachronous double cancers of the bile duct and pancreas in a single patient who underwent successful curative resections consecutively. At the age of 57, a woman underwent pylorus-preserving pancreaticoduodenectomy for a lesion that was pathologically diagnosed as moderately differentiated adenocarcinoma of the distal common bile duct. Eighteen years later, a pancreatic mass was detected during a follow-up examination. Abdominal computed tomography showed a bigger 2.3 cm lesion at the remnant pancreas body, which suggested a diagnosis of primary pancreatic cancer or metastasis. After admission and further work-up confirming no other lesions, completion total pancreatectomy was performed. The pathological diagnosis of the resected specimen was moderately differentiated pancreatic ductal adenocarcinoma, and this case highlights the occurrence of metachronous double primary cancers developed in both the distal bile duct and the pancreas with an interval of 18 years. This is the first report on the metachronous primary cancers of the bile duct and pancreas with a long interval within an English review of the literature in the MEDLINE. This case serves as another data point to guide surgeons that they should be vigilant for the postoperative long-term surveillance of patients with pancreatobiliary cancer.
Antegrade Hybrid Chimney TEVAR Endograft in a Patient with Blunt Aortic Injury: A Challenging Case with Technical Success but Unfavorable Result
Authors: Fotios Eforakopoulos, Maria Giovani, Petros Zampakis, Christina Kalogeropoulou, Fotini Fligou, Nikolaos Charoulis, Efstratios Koletsis, Dimitrios Dougenis
Journal: Case Rep Vasc Med (2021)
MeSH terms: Case Reports

Thoracic Endovascular Aortic Repair (TEVAR) has modified aortic medicine, particularly in patients with traumatic aortic injury (TAI). Conventional repair of TAI in the aortic arch is technically demanding as it requires cardiopulmonary bypass and deep hypothermic arrest with still a significant number of complications. Despite recent improvements in endovascular techniques, many patients have been excluded from endovascular repair due to unfavorable anatomy. To increase the feasibility of endovascular repair, adjunctive open extra-anatomical bypasses may be required to provide an adequate proximal landing zone. Several methods, for instance, chimney technique, hybrid technique, and fenestrated or branched stent-grafts, have been proposed as options to preserve the supra-aortic branches, each with its own advantages and disadvantages. We herein present a patient with complex anatomical features and blunt aortic injury, who underwent antegrade chimney stent-graft deployment through the ascending aorta, not otherwise amenable to standard retrograde delivery because of severe peripheral artery disease. The remarkable aspect, in this case, is that both stents were placed antegrade, through the ascending aorta.
Managing Known Difficult Airways in Obstetric Patients Using a Flexible Bronchoscope and IRRIS: A Case-Illustrated Guide for Nonexpert Anesthesiologists, without Surgical Backup
Authors: Kjartan E Hannig, Rasmus W Hauritz, Christian Jessen, Jan Herzog, Anders M Grejs, Michael S Kristensen
Journal: Case Rep Anesthesiol (2021)
MeSH terms: Case Reports

Pregnancy is associated with anatomical and physiological changes leading to potential difficult airway management. Some pregnant women have known difficult airways and cannot be intubated even with a hyperangulated videolaryngoscope. If neuraxial techniques are also impossible, awake tracheal intubation with a flexible bronchoscope may be one of the few available options to avoid more invasive techniques. The Infrared Red Intubation System (IRRIS) may help nonexpert anesthesiologists in such situations and may enhance the chance of successful intubation increasing safety for the mother and the fetus, especially in hospitals without the ear, nose, and throat surgical backup.
Disseminated Peritoneal Tuberculosis Initially Misdiagnosed as Nephrogenic Ascites
Authors: Lauren Crossman, Christopher Ronald Funk, Sheetal Kandiah, Reena Hemrajani
Journal: Case Rep Nephrol (2023)
MeSH terms: Case Reports

A middle-aged immigrant male from a region with endemic tuberculosis who had a history of end-stage kidney disease presented to the emergency room for routine hemodialysis and abdominal swelling. He was admitted to the medicine service for suggested daily dialysis to improve his volume overload, which was attributed to nephrogenic ascites. He was found to have several findings concerning for systemic illness, including fevers, night sweats, hypercalcemia, lymphadenopathy, omental thickening, ascitic fluid with a serum ascites albumin gradient of less than 1.1 gm/dL, and exudative pleural effusions. Our suspicion for hematologic malignancy versus disseminated infection was high. During admission, there were many diagnostic challenges in obtaining histologic and bacteriologic confirmation of our leading suspected diagnosis, disseminated tuberculosis. Ultimately, tuberculosis infection was confirmed with histologic evidence of granulomatous inflammation of cervical lymph node and sputum culture positive for Mycobacterium tuberculosis. This case highlights the necessity for every patient presenting with new ascites to undergo diagnostic paracentesis. Nephrogenic ascites is a rare syndrome that is possible in volume overloaded states but is a diagnosis of exclusion that should be supported by an exudative serum ascites albumin gradient and no evidence of an alternate etiology.
Familial polythelia associated with dental anomalies: a case report
Authors: Gabriel M Fonseca, Mario Cantín
Journal: Colomb Med (Cali) (2014)
Keywords: polythelia, cancer, dental anomalies, inheritance, prevention, syndrome
MeSH terms: Breast Diseases / pathology, Nipples / abnormalities, Tooth Abnormalities / etiology, Case Reports, Family Health, Female, Humans, Nipples / pathology, Tooth Abnormalities / pathology, Young Adult, Polythelia, Familial

Polythelia has been defined as the presence of supernumerary nipples without accessory glandular tissue. Usually, these growths follow imaginary mammary lines running from the armpits to the groin. Although the presence of dental anomalies may occasion only a simple cosmetic problem with specific clinical considerations, the association with familial polythelia has been scarcely reported. This paper reports on a case of polythelia that is associated with dental anomalies in an Argentine family and discusses suggestions for a thorough dental history and medical consultation to prevent possible pathological conditions or potential malignant transformation of mammary tissues.
Sharp curvature of premolar resulting in external apical root resorption of the neighbouring molar
Authors: Ozgür İlke Atasoy Ulusoy
Journal: Case Rep Dent (2011)
MeSH terms: Case Reports

This case report describes an external apical root resorption resulted from the unusual root morphology of the neighbouring tooth. A 28-year-old female was referred to the department of endodontics with a complaint of intense pain in her maxillary second premolar tooth. The clinical and radiographical evaluation revealed an external apical resorption in the mesial root of the maxillary first molar, which shows close proximity to the severely curved root of the premolar. A successful root canal treatment of the premolar was performed using anticurvature filing method. However, molar tooth received no curative treatment. One-year followup of the apical external resorption did not show any progression. External apical root resorption affecting single permanent tooth may be induced from the pressure exerted during the eruption of the adjacent tooth with unusual root morphology. The preferred approach for the management of such apical resorption cases includes long-term observation and no curative treatment.
Giant Splenorenal Shunt in a Young Patient with Autoimmune Hepatitis/Primary Biliary Cholangitis Overlap Syndrome and Portal Vein Thrombosis
Authors: F Chegai, A U Cavallo, M Forcina, V Giuricin, F Castellani, L Greco, M Manuelli, T M Manzia, G Sergiacomi
Journal: Case Rep Radiol (2017)
MeSH terms: Case Reports

We present a case of giant Splenorenal Shunt (SRS) associated with portal vein thrombosis in a 37-year-old woman with a twelve-year history of autoimmune hepatitis/primary biliary cholangitis overlap syndrome. At the moment of the CT examination laboratory tests showed creatinine 1.5 mg/dl, bilirubin 1.5 mg/dl, INR 3, and Na 145 mmol/l and the Model End-Stage Liver Disease score was 24. Extensive calcified thrombosis causing complete occlusion of the portal vein lumen and partially occluding the origin of the superior mesenteric vein was present and a small calcified thrombus in the Splenic Vein lumen was also evident. SRS was located among the spleen hilum and the left kidney with a maximum diameter of 3.25 cm and was associated with dilatation of left renal vein and inferior vena cava. After a multidisciplinary evaluation the patient was put on the Regional Liver Transplant waiting list and liver transplantation was performed successfully. Although portal vein thrombosis and SRS are common occurrences in cirrhotic patients, the impact in the natural history of the disease is still unclear. Careful management and accurate imaging protocols are essential in the evaluation of those patients.
Long-Term Effects of Acute Myeloid Leukemia Treatment on the Oral System in a Pediatric Patient
Authors: Saturnino Marco Lupi, Arianna Rodriguez Y Baena, Gabriele Cervino, Claudia Todaro, Silvana Rizzo
Journal: Open Dent J (2018)
Keywords: acute myeloid leukemia, bone marrow transplantation, children teeth, dental anomalies, dental implants, long-term effects
MeSH terms: Case Reports

Introduction:
Acute Myeloid Leukemia (AML) in pediatric patients is a serious disease, although, for the subgroup of patients who receive proper treatment, a long-term survival rate above 50% is typical. The cycles of chemo- and radiotherapy used to treat AML can impair dental development.
Case report:
Herein, we describe the oral condition of a 25-year-old male patient treated for AML with chemo- and radiotherapy from 5 to 7 years of age; his AML has remained in remission for the past 18 years. He had lost only one permanent tooth, but the remaining teeth demonstrated serious deformations and radicular hypoplasia. Two teeth required immediate extraction and subsequent replacement by implant-supported crowns. We found that the decayed, missing, filled teeth (DMFT) index was not representative of the real oral condition. Here, we report the full case and provide a brief review of the literature.
Conclusion:
Antitumor treatment of pediatric leukemia can induce total impairment of dental development and function. These adverse effects may become clinically evident many years after the resolution of cancer, and can be significantly detrimental to the patient's quality of life.
Collapsing glomerulopathy associated with hemophagocytic syndrome in a patient with NK/T cell lymphoma
Authors: Wihib Gebregeorgis, Inder Patel, Manish Thakur, Divaya Bhutani, Indryas Woldie
Journal: Clin Nephrol Case Stud (2016)
Keywords: nk/t cell lymphoma, collapsing glomerulopathy, hemophagocytic syndrome
MeSH terms: Case Reports

Hemophagocytic syndrome (HPS) is a rare condition caused by dysregulated activation of the immune system leading to infiltration of bone marrow and organs by nonmalignant macrophages that phagocytose blood cells. Primary HPS is caused by inherited immune dysregulation whereas secondary HPS is triggered by neoplastic, infectious or autoimmune diseases. Clinically, the syndrome presents with continuous high-grade fever in association with multi-organ involvement. Few data are available regarding renal manifestations of HPS. We report a 60-year-old patient with NK/T cell nasopharyngeal extranodal lymphoma who presented with acute kidney injury and nephrotic range proteinuria in association with fever and pancytopenia. A kidney biopsy was consistent with collapsing glomerulopathy. A final diagnosis of HPS was made on the basis of clinical, laboratory, and bone marrow biopsy findings in accordance with established diagnostic criteria. Steroid therapy was initiated. However, the patient failed to recover his renal function and remained hemodialysis-dependent. Key diagnostic and therapeutic challenges and strategies used to overcome those challenges are discussed.
Novel Visceral-Anastomosis-First Approach in Open Repair of a Ruptured Type 2 Thoracoabdominal Aortic Aneurysm: Causes behind a Mortal Outcome
Authors: Einar Dregelid, Alireza Daryapeyma
Journal: Case Rep Vasc Med (2013)

Case reports to analyze causes and possible prevention of complications in a new setting are important. We present an open repair of a ruptured type 2 thoracoabdominal aortic aneurysm in a 78-year-old man. Lower-body perfusion through a temporary extracorporeal axillobifemoral arterial prosthesis shunt was combined with the use of a branch to the permanent aortic prosthesis to enable rapid visceral revascularization using a visceral-anastomosis-first approach. The patient died due to transfusion-induced capillary leak syndrome and left colon necrosis; the latter was probably caused by a combination of back-bleeding from lumbar arteries causing a steal effect, an accidental shunt obstruction, and hemodynamic instability towards the end of the operation. The visceral-anastomosis-first approach did not contribute to the complications. This approach reduces the time when visceral organs are perfused only via collateral arteries to the time needed for suturing the visceral anastomoses. This may be important when collateral perfusion is marginal.
Benign Paroxysmal Positional Vertigo and Occult Subarachnoid Hemorrhage Complicated after Head Trauma
Authors: Qinghua Li, Shuangxing Hou, Hualan Yang
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Benign paroxysmal positional vertigo (BPPV) is the most prevalent form of peripheral vertigo and is common in posttraumatic patients. Sometimes, posttraumatic BPPV and subarachnoid hemorrhage (SAH) exist together. How to effectively recognize SAH especially concealed bleeding before maneuver treatment for BPPV is worth paying attention by every clinician. Presently described is a case that when there are some clinical symptoms cannot be completely explained by simple BPPV, the combination of CT and FLAIR MRI sequences are needed in the early-stage detection of acute SAH.