OpenMed/multicare-articles huggingface dataset:
Neuropsychiatric and Neurocognitive Manifestations in HIV-Infected Children Treated With Efavirenz in South Africa-A Retrospective Case Series
Authors: Charles K Hammond, Brian Eley, Natalia Ing, Jo M Wilmshurst
Journal: Front Neurol (2019)
Keywords: adverse effect, children, efavirenz, neurocognitive, neuropsychiatric, neurotoxicity
MeSH terms: Case Reports

Background: Efavirenz is associated with transient neuropsychiatric manifestations but the impact on neurocognition in children is unknown. Genetically slow metabolizers of efavirenz may be at risk of toxicity. This study describes neuropsychiatric and neurocognitive manifestations of South African children with suspected efavirenz neurotoxicity. Method: This retrospective study describes clinical features of 12 children with features consistent with efavirenz neurotoxicity between 2008 and 2014. Results: Twelve children (4 males, 8 females) aged 3-12 years (median 8.4 years) were referred to a dedicated pediatric neuroHIV service. Eight were of indigenous African (black) ancestry and 4 were of mixed ancestry. The total duration on efavirenz-containing ART at the time of referral was 6-72 (mean 31) months. Two children (both of black ancestry) were phenotypically slow metabolizers and presented with acute manifestations and high plasma efavirenz concentrations above normal range resulting in discontinuation of efavirenz. Ten other children had clinical presentations compatible with efavirenz neurotoxicity but had normal or sub-therapeutic plasma efavirenz concentrations and continued treatment with efavirenz. The acute neuropsychiatric manifestations reported included drowsiness, seizures, sleep disturbances, personality changes, ataxia, and slurred speech. These were noticed 2-8 weeks (mean 5 weeks) after commencing efavirenz and resolved over a few weeks. Nine children had neurocognitive deficits and showed poor performance in all neurocognitive domains that were tested. Interpretation: Efavirenz causes transient neuropsychiatric adverse effects and may contribute to poor long-term neurocognitive outcomes in HIV-infected children. Prospective studies comparing efavirenz-treated and efavirenz-naïve children are needed to further elucidate the manifestations of efavirenz toxicity.
Stent dilatation of atretic aortic coarctation in an adult-case report and literature review
Authors: Neerod Kumar Jha, Magdi Tofeig, Rajappan Arun Kumar, Amin ElTahir, Syed Mohammad Athar, Aref AlHakami, Arshad Khan, Mohammad Daud Khan
Journal: J Cardiothorac Surg (2016)
MeSH terms: Aortic Coarctation / therapy, Cardiac Catheterization, Dilatation / instrumentation, Stents, Case Reports, Review, Adult, Aortic Coarctation / diagnostic imaging, Dilatation / methods, Humans, Male, Radiography

Background:
Patients with functional aortic interruption of the descending thoracic aorta at the isthmus due to severe coarctation in association with atretic lumen are extremely rare in the adult population. The management is challenging and carries high morbidity and mortality.
Case presentation:
We describe successful percutaneous reconstruction using a covered stent in a similar patient who is doing well two-years after intervention. A literature search was done to explore management strategies and their long-term outcomes for better understanding.
Conclusions:
This report is an attempt to highlight the role of minimal invasive approach in the management of rare, severe coarctation of the aorta in adult patients to avoid morbidity and mortality associated with more invasive procedures.
Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia
Authors: Marica Meroni, Miriam Longo, Erika Paolini, Giada Tria, Michela Ripolone, Laura Napoli, Maurizio Moggio, Anna Ludovica Fracanzani, Paola Dongiovanni
Journal: Front Nutr (2022)
Keywords: nafld, hypertriglyceridemia, mitochondrial dysfunction, transmission electron microscopy, whole-exome sequencing
MeSH terms: Case Reports

Background and aims:
Hypertriglyceridemia is a common feature of metabolic syndrome (MetS), as well as of non-alcoholic fatty liver disease (NAFLD), which is considered the hepatic manifestation of MetS. Fat accumulation in hepatocytes may alter mitochondrial homeostasis predisposing to advanced liver disease. Here, we report a case of a 40-year-old woman with early aggressive NAFLD due to severe hypertriglyceridemia that ensued from a combination of genetic variants and additional metabolic risk factors.
Methods:
Genetic screening was performed by using whole-exome sequencing (WES), and mitochondrial structures were evaluated by TEM.
Results:
At presentation, the patient is reported to have hepatomegaly, hypertriglyceridemia, and raised transaminases. Genetic analysis revealed that the patient beard heritable alterations in genes implicated in lipid handling, among which APOB, APOE, CETP, and HSPG2, accompanied by missense mutations in genes involved in mitochondrial function, i.e., AK2, ALG6, ASPA, NDUFAF1, POLG, and TMEM70. Abdominal ultrasound (US) and transient elastography were suggestive of severe hepatic steatosis and fibrosis. A liver biopsy confirmed the diagnosis of non-alcoholic steatohepatitis (NASH)-related fibrosis. Thus, to better outline whether mutations involved in lipid remodeling and mitochondrial function may also affect organelles' morphology, we exploited TEM. Along with multifaceted abnormalities of mitochondrial architecture that have been already observed in patients with NAFLD, astonishing ultrastructural defects, such as mitochondrial vacuolization, sub-compartmentalization, and onion-like mitochondria, were identified.
Conclusion:
The anomalies reported may expand the phenotypic spectrum of mitochondrial abnormalities observed in patients with NAFLD, which may contribute to the switching toward a progressive disease.
3D Evaluation of Palatal Rugae in Identical Twins
Authors: Emiliya Taneva, Carla Evans, Grace Viana
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

The study of identical twins can point out potential limitations in biometrics and forensic odontology. This case report presents three-dimensional (3D) palatal rugae analysis in monozygotic twins utilizing digital models obtained directly by scanning the maxillary dental arch with the iTero® intraoral digital scanner. The results show that the rugae patterns contain related but not identical features between the pair of identical twins. Dental study models taken on a regular basis for diagnosis and treatment planning in dentistry include the palatal rugae, which could be valuable to forensics in identical twin identification cases.
A Case of "Refractory" Neuropsychiatric Lupus Responsive to Anticoagulation
Authors: Rui Wu, Sun Hu
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Neuropsychiatric disorder is a severe complication in 14% to 75% of systemic lupus erythematosus (SLE) patients, which can result in significant morbidity. A 15-year-old female SLE patient with coexistence of dural sinus thrombosis and intracerebral hemorrhage resistant to two pulses of high dose of glucocorticoid was treated with anticoagulation of the low-molecular-weight [LMW] heparin subcutaneously followed by warfarin. The patient demonstrated a remarkable clinical response.
Drug administration adjustments for elderly patients with dysphagia: A case report
Authors: Patrícia de Carvalho Mastroianni, Marcela Forgerini
Journal: Dement Neuropsychol (2018)
Keywords: cognitive dysfunction, deglutition disorder, medication errors, medication therapy management, pharmaceutical care, sertraline
MeSH terms: Case Reports

An elderly patient, aged 76 years, diagnosed with dysphagia, depression, hypothyroidism, Alzheimer's disease and mild cognitive deficit, was identified with sertraline and levothyroxine- drug-related problems. Medication Therapy Management (MTM) was used to adjust therapy to the patient's needs by macerating sertraline tablets and solubilizing them in 10-30 mL of orange juice. The patient was advised to take levothyroxine after fasting. Six months later, pharmaceutical follow-up identified an increase in the Mini-Mental State Exam score from 22 to 26 and a decrease in the Clinical Dementia Rating (CDR) scale score from 1.0 to 0.5 in conjunction with mood and physical improvements, as well as a significant decrease in aggressiveness and agitation. Cognitive deficit may be a result of poor drug administration procedures, leading to drug ineffectiveness. Optimizing levothyroxine and sertraline administration, based on knowledge of their physicochemical properties, improves their clinical effectiveness, including the cognition of patients with Alzheimer's disease and dysphagia.
Infection with Anaplasma phagocytophilum in a seronegative patient in Sicily, Italy: case report
Authors: J de la Fuente, A Torina, V Naranjo, S Caracappa, V Di Marco, A Alongi, M Russo, A R Maggio, K M Kocan
Journal: Ann Clin Microbiol Antimicrob (2005)
MeSH terms: Anaplasma phagocytophilum / immunology, Antibodies, Bacterial / blood, Ehrlichiosis / diagnosis, Research Support, Non-U.S. Gov't, Anaplasma phagocytophilum / isolation & purification, DNA, Bacterial / analysis, Humans, Male, Middle Aged, Polymerase Chain Reaction, Antibodies, Bacterial, DNA, Bacterial

Background:
Anaplasma phagocytophilum causes human granulocytic anaplasmosis (HGA) in humans, which has been recognized as an emerging tick-borne disease in the United States and Europe. Although about 65 cases of HGA have been reported in Europe, some of them do not fulfill the criteria for confirmed HGA. Confirmation of HGA requires A. phagocytophilum isolation from blood, and/or identification of morulae in granulocytes and/or positive PCR results with subsequent sequencing of the amplicons to demonstrate specific rickettsial DNA. Seroconversion or at least fourfold increase in antibody titers to A. phagocytophilum has been used as criteria for confirmed HGA also.
Case presentation:
Infection with A. phagocytophilum was confirmed by PCR in a patient in Sicily, Italy, who had negative serology for A. phagocytophilum. A fragment of A. phagocytophilum 16S rDNA was amplified by two independent laboratories and sequenced from two separate patient's blood samples. The 16S rDNA sequence was identical in both samples and identical to the sequence of the A. phagocytophilum strain USG3 originally obtained from a dog.
Conclusion:
Infection with A. phagocytophilum was confirmed in a patient without a detectable antibody response against the pathogen. The results reported herein documented the first case of confirmed HGA in Sicily, Italy. These results suggested the possibility of human infections with A. phagocytophilum strains that result in clinical symptoms and laboratory findings confirmatory of HGA but without detectable antibodies against the pathogen.
Intramedullary Screw Fixation of a Proximal Fifth Metatarsal Stress Fracture in an Elite Athlete: A Case Report
Authors: Steffen Sauer
Journal: Surg J (N Y) (2017)
Keywords: hindfoot varus, intramedullary screw fixation, pes cavus, proximal fifth metatarsal fracture
MeSH terms: Case Reports

Intramedullary screw fixation of proximal fifth metatarsal fractures is a simple surgical procedure, enabling early postoperative weight-bearing and subsequently rapid return to competitive sport, which is of great significance for elite athletes. The procedure is described in an elite basketball player in this article. Pes cavus and hindfoot varus alignment potentiate cyclic loading onto the fifth metatarsal and should be addressed as it may represent underestimated factors concerning fracture prognosis.
Methylmalonic Acidemia with Novel MUT Gene Mutations
Authors: Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh
Journal: Case Rep Genet (2017)
MeSH terms: Case Reports

A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA). He was treated with vit B12 and carnitine supplements and has been on follow-up for the last 3 years. Mutation analysis by next generation sequencing (NGS), supplemented with Sanger sequencing, revealed two novel variants in the MUT gene responsible for MMA in exon 5 and exon 3, respectively. Recently he developed dystonic movements including orofacial dyskinesia. With advent of NGS, judicious use of NGS with Sanger sequencing can help identify causative possibly pathogenic mutations.
Trichotillomania and dermatitis artefacta: a rare coexistence
Authors: Neeraj Varyani, Sunny Garg, Garima Gupta, Shivendra Singh, Kamlakar Tripathi
Journal: Case Rep Psychiatry (2012)
MeSH terms: Case Reports

A 24-year-old pregnant female patient presented with complains of bilateral lower limb swelling and fever for 1 month. On examination, blood pressure was 144/94 mmHg along with pitting pedal edema. She had bizarre skin lesions, aligned longitudinally and distributed over the approachable site of the body with tapering ends and in various stages of healing. Lower limbs examination also revealed similar lesions with signs of cellulitis. Her scalp had short and distorted hair suggesting pulling and plucking. These skin lesions and the denial of self-infliction by the patient made us reach the diagnosis of dermatitis artefacta with trichotillomania. Psychotherapy was advocated along with conservative management of skin lesions. The patient improved and is under our follow up.
"Fatal Gastrointestinal and Peritoneal Ischemic Disease" of Unknown Cause at Arba Minch Hospital, Southern Ethiopia
Authors: Jilcha Diribi Feyisa, Melka Kenea, Efrem Gashaw, Eskezyiaw Agedew Getahun, Barry Leon Hicks, Hailemichael Desalegn
Journal: Can J Gastroenterol Hepatol (2018)
MeSH terms: Intestinal Obstruction / etiology, Intestines / blood supply, Ischemia / etiology, Peritoneum / blood supply, Peritonitis / etiology, Stomach / blood supply, Case Reports, Review, Adolescent, Adult, Child, Ethiopia / epidemiology, Fatal Outcome, Female, Humans, Intestinal Obstruction / epidemiology, Intestinal Obstruction / surgery, Intestines / surgery, Ischemia / epidemiology, Ischemia / surgery, Male, Middle Aged, Peritoneum / surgery, Peritonitis / epidemiology, Peritonitis / surgery, Stomach / surgery, Young Adult

Gastrointestinal and peritoneal ischemic disease due to unknown etiology present with intestinal obstruction and/or peritonitis otherwise in healthy patient emerged as fatal disease at Arba Minch General Hospital. This disorder was diagnosed based on intraoperative finding. Clinical presentation and natural history of disease progression were similar. It is estimated that about 6-10 lives are being claimed each year at Arba Minch Hospital with this disease of unidentified cause accounting for the largest figure of surgical department. Here we report case analysis and literature review illustrating clinical presentation, workup, preoperative diagnosis, intraoperative diagnosis, and final outcome of fatal gastrointestinal and peritoneal ischemic disease.
Case Report: MIS-C With Prominent Hepatic and Pancreatic Involvement in a Vaccinated Adolescent - A Critical Reasoning
Authors: Rita Consolini, Giorgio Costagliola, Erika Spada, Piero Colombatto, Alessandro Orsini, Alice Bonuccelli, Maurizia R Brunetto, Diego G Peroni
Journal: Front Pediatr (2022)
Keywords: covid-19, sars-cov-2, children, hemophagocytic lymphohistiocytosis (hlh), vaccination
MeSH terms: Case Reports

Multisystem inflammatory syndrome in children (MIS-C) is a pathologic condition that has emerged during the coronavirus disease 2019 (COVID-19) pandemic. Although the epidemiological evidence of association between MIS-C and SARS-CoV-2 infection has been demonstrated, its pathogenic mechanism is still undefined. We describe the case of a 17-year old female, previously vaccinated against SARS-CoV-2, presenting with a history of asthenia, fever, cough, anorexia, abdominal pain, and vomiting. During the hospitalization, the patient developed bilateral conjunctivitis, hand vasculitis, cutaneous rash, and multiple pulmonary nodules, following by hepatitis and pancreatitis. As she reported a high-risk contact with a SARS-CoV-2 positive patient 10 days before admission, the epidemiological link and the clinical picture characterized by multi-system organ disfunction and inflammatory biomarkers increase led us to the diagnosis of MIS-C. Therefore, the patient was treated with intravenous immunoglobulin and corticosteroids, resulting in a rapid resolution of fever, cutaneous, and pulmonary involvement, while the recovery of hepatitis and pancreatitis was observed in the following weeks. This case leads to the discussion on whether SARS-CoV-2 immunized children and adolescents should be considered at risk of developing MIS-C and on their possible presentation with non-classic clinical features. Additionally, due to the increasing number of vaccinated children and adolescents, the issues resulting either from the diagnostic suspect of MIS-C or from the consequent need of an early therapeutic approach are discussed.
Primary angiosarcoma of the spleen: an oncological enigma
Authors: Despoina Myoteri, Myoteri Despoina, Dionysios Dellaportas, Dellaportas Dionysios, Georgios Ayiomamitis, Ayiomamitis Georgios, Konstantinos Strigklis, Strigklis Konstantinos, Efstratios Kouroumpas, Kouroumpas Efstratios, Adamantia Zizi-Sermpetzoglou, Zizi-Sermpetzoglou Adamantia
Journal: Case Rep Oncol Med (2014)

Introduction. Primary splenic angiosarcoma is an extremely unusual neoplasm originating from sinusoidal vascular endothelium. Surgical extirpation is the mainstay of treatment of this highly malignant disease. Case Presentation. An 82-year-old woman was admitted with left pleural effusion and a palpable left upper quadrant abdominal mass, secondary to splenomegaly by two large splenic tumors. Classic open splenectomy was performed and angiosarcoma of the spleen was the final histopathological diagnosis, which was primary since no other disease site was revealed. Discussion. The incidence of the disease is 0.14-0.23 cases per million, with slight male predominance. Etiology is not established and clinical presentation may confuse even experienced physicians. Imaging modalities cannot differentiate the lesion from other vascular splenic neoplasms and the correct diagnosis is mainly set after histopathological examination of the resected spleen. As with other sarcomas, surgery is the only curative approach, while chemo- and radiotherapy have poor results. Prognosis remains dismal.
The role of cerebellar impairment in emotion processing: a case study
Authors: Alexandra K Gold, Rosemary Toomey
Journal: Cerebellum Ataxias (2018)
Keywords: cerebellum, emotion, obsessive-compulsive personality disorder
MeSH terms: Case Reports

Background:
Though the cerebellum's role in visuospatial and fine motor functioning has been well-established over the last several years, the role of the cerebellum in emotion has more recently been a focus of scientific inquiry. Cerebellar impairment has been associated with deficits in emotional processing and is linked to a wide range of clinical behaviors including social withdrawal, blunted emotional expression, and impulsivity. In addition, cerebellar impairments have been associated with the onset of psychiatric disorders including major depressive disorder and, more recently, obsessive-compulsive disorder.
Case presentation:
We describe a 32-year-old patient who presented to our clinic for a neuropsychological evaluation with a childhood history of a cerebellar brain tumor and detail-oriented, perfectionistic tendencies. Neuropsychological assessment data revealed impairments in visuospatial processing and in fine motor skills, likely stemming from the cerebellar tumor. Clinical assessment led to a diagnosis of obsessive-compulsive personality disorder and also suggested impairments in socio-emotional processing.
Conclusions:
Our findings lend support to recent data which has suggested the impact of cerebellar impairment on emotional processing and related domains. Unlike many previous studies, however, our report focuses on an individual who, despite having marked impairments in certain domains, demonstrates a high level of functioning. We believe that this report holds important clinical relevance for proper diagnosis of cerebellar-related impairment and for the necessity of early intervention.
Topical allogeneic platelet-rich plasma treatment for a massive cutaneous lesion induced by disseminated intravascular coagulation in a toy breed dog
Authors: Tae-Ho Chung, Dae-Seung Baek, Namjung Kim, Jin-Ho Park, Chul Park
Journal: Ir Vet J (2015)
Keywords: cutaneous lesion, disseminated intravascular coagulation, platelet-rich plasma, topical treatment, toy breed dog

A 2-year-old intact female miniature Pinscher weighing 1.7 kg with a body condition score of 2/5 was presented for acute vomiting, lethargy for 2 days, and large petechial skin lesions on the hip region including the tail. Acute pancreatitis was diagnosed by clinical signs, strong positive cPLI test, laboratory test and ultrasound appearance. While the clinical signs associated with acute pancreatitis had improved in 3-5 days, lesion of petechial appeared on the left hip region 7 days after the presentation, with a fast progression into a necrotic tissue along the left side hip. Allogenic platelet rich plasma (PRP) with Weibrich and Kleis method was administered to promote skin healing and regeneration. Gradual and complete improvement in the dog's wound lesions was noted approximately 1 month after applying allogeneic topical PRP. In this case report, allogeneic PRP was applied to a large regional cutaneous defect caused by coagulopathy induced by acute pancreatitis. Topical application of PRP in this case was unique in that allogeneic PRP was used instead of autologous PRP for the first time in cutaneous soft-tissue wound management in the veterinary medical field.
Paraplegia after gastrectomy in a patient with cervical disc herniation: a case report and review of literature
Authors: Qingfu Zhang, Wei Jiang, Quanhong Zhou, Guangyan Wang, Linlin Zhao
Journal: Case Rep Anesthesiol (2014)

Paraplegia is a rare postoperative complication. We present a case of acute paraplegia after elective gastrectomy surgery because of cervical disc herniation. The 73-year-old man has the medical history of cervical spondylitis with only symptom of temporary pain in neck and shoulder. Although the patient's neck was cautiously preserved by using the Discopo, an acute paraplegia emerged at about 10 hours after the operation. Severe compression of the spinal cord by herniation of the C4-C5 cervical disc was diagnosed and emergency surgical decompression was performed immediately. Unfortunately the patient showed limited improvement in neurologic deficits even after 11 months.