OpenMed/multicare-articles huggingface dataset:
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis
Authors: Francesco Saettini, Grazia Fazio, Daniele Moratto, Marta Galbiati, Nicola Zucchini, Davide Ippolito, Marco Emilio Dinelli, Luisa Imberti, Mario Mauri, Maria Luisa Melzi, Sonia Bonanomi, Alessio Gerussi, Marinella Pinelli, Chiara Barisani, Cristina Bugarin, Marco Chiarini, Mauro Giacomelli, Rocco Piazza, Giovanni Cazzaniga, Pietro Invernizzi, Silvia Clara Giliani, Raffaele Badolato, Andrea Biondi
Journal: Front Immunol (2021)
Keywords: dock 8, ebv - epstein-barr virus, lymphopenia, primary immumunodeficiencies, sclerosing cholangitis, somatic reversion, thrombocytopenia
MeSH terms: Cholangitis, Sclerosing / genetics, Guanine Nucleotide Exchange Factors / genetics, Primary Immunodeficiency Diseases / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Female, Humans, Mutation, DOCK8 protein, human, Guanine Nucleotide Exchange Factors

DOCK8 deficiency is a combined immunodeficiency due to biallelic variants in dedicator of cytokinesis 8 (DOCK8) gene. The disease has a wide clinical spectrum encompassing recurrent infections (candidiasis, viral and bacterial infections), virally driven malignancies and immune dysregulatory features, including autoimmune (cytopenia and vasculitis) as well as allergic disorders (eczema, asthma, and food allergy). Hypomorphic function and somatic reversion of DOCK8 has been reported to result in incomplete phenotype without IgE overproduction. Here we describe a case of DOCK8 deficiency in a 8-year-old Caucasian girl. The patient's disease was initially classified as autoimmune thrombocytopenia, which then evolved toward a combined immunodeficiency phenotype with recurrent infections, persistent EBV infection and lymphoproliferation. Two novel variants (one deletion and one premature stop codon) were characterized, resulting in markedly reduced, but not absent, DOCK8 expression. Somatic reversion of the DOCK8 deletion was identified in T cells. Hypomorphic function and somatic reversion were associated with restricted T cell repertoire, decreased STAT5 phosphorylation and impaired immune synapse functioning in T cells. Although the patient presented with incomplete phenotype (absence of markedly increase IgE and eosinophil count), sclerosing cholangitis was incidentally detected, thus indicating that hypomorphic function and somatic reversion of DOCK8 may delay disease progression but do not necessarily prevent from severe complications.
Vancomycin-Induced Stevens-Johnson Syndrome in a Boy Under 2 Years Old: An Early Diagnosis by Granulysin Rapid Test
Authors: You-Cheng Lin, Ji-Nan Sheu, Wen-Hung Chung, Ren-You Pan, Chu-Ju Hung, Jen-Jung Cheng, Yu-Ping Hsiao
Journal: Front Pediatr (2018)
Keywords: algorithm of drug causality for epidermal necrolysis score, stevens-johnson syndrome, granulysin rapid test, modified t-cell activation assay, vancomycin
MeSH terms: Case Reports

Stevens-Johnson syndrome (SJS) is a life-threatening disease, which is mainly ascribed to drugs, such as sulfonamides and psychoepileptics. In this article, we present a pediatric case of vancomycin-induced SJS and an alternative diagnostic algorithm. The patient presented with multiple target-like rashes and vesicles throughout the whole body after receiving vancomycin. Despite the fact that skin biopsy remains the gold standard for diagnosing SJS, the granulysin rapid test by immunochromatographic assay is a non-invasive option for children. In this article, we describe our use of the Algorithm of Drug causality for Epidermal Necrolysis and a modified T-cell activation assay for granzyme B and interferon gamma to screen for the culprit drug. Moreover, we applied the granulysin rapid test as an early diagnosis method for children with drug-induced SJS.
Diabetes, Fetal Demise, and Shoulder Dystocia: The Importance of Glucose Screening to Prevent Catastrophic Obstetric Outcomes
Authors: S Ahmed Hussain, Alisha M Smith, Jennifer A Cross
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Diabetes is associated with increased risk of stillbirth and shoulder dystocia. Compared with uncomplicated pregnancies, diabetic patients have a 4-6x risk of stillbirth and 2-3x risk of shoulder dystocia. A 34 yo G2P0010 presented with a 40+3 wga IUFD with nonstandard antenatal glucose screening. Admission labs included a hemoglobin A1c of 6.6. She had a vaginal delivery complicated by a 30-minute shoulder dystocia that was not relieved by McRoberts, suprapubic pressure, Rubin II, Wood's Screw, or posterior arm delivery. Nitroglycerine was administered, after which Wood's Screw was successful resulting in delivery of an infant weighing 4190 grams (85th percentile for gestational age). A 31 yo G1 presented with a 37+1 wga IUFD. Her 28 wga three-hour GTT was notable for an elevated value at one hour (216 mg/dL). Admission labs included a hemoglobin A1c of 6.6. She had a vaginal delivery complicated by a 30-minute shoulder dystocia that was relieved via posterior axillary sling after failure of McRoberts, suprapubic pressure, Rubin II, Wood's Screw, and Gaskin's, resulting in the delivery of an infant weighing 3590 g (92nd percentile for gestational age). We present two cases of severe shoulder dystocia in patients who both presented with term IUFD and diabetic-range hemoglobin A1c. There is minimal literature on diabetic patients with pregnancies affected by both stillbirth and shoulder dystocia. These cases underscore the importance of glucose screening and control to prevent catastrophic obstetric outcomes.
Schizophrenia and cortical blindness: protective effects and implications for language
Authors: Evelina Leivada, Cedric Boeckx
Journal: Front Hum Neurosci (2014)
Keywords: language, occipital cortex, protective effects, schizophrenia, thalamus, vision

The repeatedly noted absence of case-reports of individuals with schizophrenia and congenital/early developed blindness has led several authors to argue that the latter can confer protective effects against the former. In this work, we present a number of relevant case-reports from different syndromes that show comorbidity of congenital and early blindness with schizophrenia. On the basis of these reports, we argue that a distinction between different types of blindness in terms of the origin of the visual deficit, cortical or peripheral, is crucial for understanding the observed patterns of comorbidity. We discuss the genetic underpinnings and the brain structures involved in schizophrenia and blindness, with insights from language processing, laying emphasis on the three structures that particularly stand out: the occipital cortex, the lateral geniculate nucleus (LGN), and the pulvinar. Last, we build on previous literature on the nature of the protective effects in order to offer novel insights into the nature of the protection mechanism from the perspective of the brain structures involved in each type of blindness.
Quadriceps Tendon Rupture in an Adolescent Athlete
Authors: William A Zuke, Beatrice Go, Alexander E Weber, Brian Forsythe
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Quadriceps tendon rupture is an uncommon injury that usually occurs in middle-aged and elderly men with a history of chronic illnesses. We report the case of a 17-year-old healthy adolescent male baseball player who sustained this injury as a result of sudden deceleration in his left knee. He initially reported to the emergency department and then presented to our practice, where he was diagnosed with a quadriceps tendon tear. Preoperatively, he was unable to perform a single straight-leg raise. During surgical repair, the free edge of the quadriceps tendon was mobilized and anchored into the superior pole of the patella, followed by sutures to ensure reinforcement of the quadriceps footprint. His postoperative course progressed normally, demonstrating full range of motion at 3 months and return to team training at 5 months. Unlike previously reported quadriceps tendon ruptures in adolescents, to our knowledge, this is the first report of a patient who sustained such an injury without previous trauma to his knee or quadriceps mechanism. It is possible that weakened tendon integrity from repeated microtrauma during training combined with the sudden weight change distribution may have resulted in the injury. As urgent surgical intervention is necessary to ensure efficient recovery and return to sport, the sports medicine practitioner must remain educated and vigilant on caring for these patients.
Case Report of Necrotizing Fasciitis Associated with Streptococcus pneumoniae
Authors: Lei Jiao, Zain Chagla, Reham Mohammedsaeed Kaki, Gabriela Gohla, Marek Smieja
Journal: Can J Infect Dis Med Microbiol (2016)

Necrotizing fasciitis, caused by Streptococcus pneumoniae, is an extremely rare and life-threatening bacterial soft tissue infection. We report a case of early necrotizing fasciitis associated with Streptococcus pneumoniae infection in a 26-year-old man who was immunocompromised with mixed connective tissue disease. The patient presented with acute, painful, erythematous, and edematous skin lesions of his right lower back, which rapidly progressed to the right knee. The patient underwent surgical exploration, and a diagnosis of necrotizing fasciitis was confirmed by pathological evidence of necrosis of the fascia and neutrophil infiltration in tissue biopsies. Cultures of fascial tissue biopsies and blood samples were positive for Streptococcus pneumoniae. To our knowledge, this is the first report of necrotizing fasciitis resulting from Streptococcus pneumoniae diagnosed at early phase; the patient recovered well without surgical debridement.
A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma
Authors: Caroline Kientz, Marie-Odile Joly, Laurence Faivre, Alix Clemenson, Sophie Dalac, Côme Lepage, Caroline Chapusot, Caroline Jacquot, Renaud Schiappa, Marine Lebrun
Journal: Hered Cancer Clin Pract (2017)
Keywords: breast cancer, lynch syndrome, mmr, msh2, msi, msi-l, muir-torre syndrome, sebaceous adenoma, squamous cell carcinoma
MeSH terms: Case Reports

Background:
The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Hence, the real link between Lynch syndrome, or Muir-Torre syndrome, and these tumors remains difficult to assess.
Case presentation:
We present the case of a 45-year-old-woman, diagnosed with breast cancer at 39 years of age and skin squamous cell carcinoma (SCC) at 41 years of age, without personal history of colorectal cancer. The microsatellite instability analysis performed on the skin SCC showed a low-level of microsatellite instability (MSI-Low). The immunohistochemical expression analysis of the four DNA mismatch repair proteins MLH1, MSH2, MSH6 and PMS2 showed a partial loss of the expression of MSH2 and MSH6 proteins. Germline deletion was found in MSH2 gene (c.1277-? _1661 + ?del), exon 8 to 10. Then, at 45 years of age, she presented hyperplastic polyps of the colon and a sebaceous adenoma.
Conclusion:
Squamous cell carcinomas have been described in Lynch syndrome and Muir-Torre syndrome in two studies and two case reports. This new case further supports a possible relationship between Lynch syndrome and squamous cell carcinoma.
Case Report: Rosai-Dorfman Disease Involving Sellar Region in a Pediatric Patient: A Case Report and Systematic Review of Literature
Authors: Yi Zhang, Jie Liu, Jianyu Zhu, Xiang Zhou, Kun Zhang, Shirui Wang, Wenbin Ma, Hui Pan, Renzhi Wang, Huijuan Zhu, Yong Yao
Journal: Front Med (Lausanne) (2020)
Keywords: mri manifestation, rosai-dorfman disease, clinical presentation, sellar region, treatment strategies
MeSH terms: Case Reports

Rosai-Dorfman disease (RDD) is an extremely rare histiocytic disorder characterized by cervical lymphadenopathy, while the involvement of sellar region is less observed. Here we report a pediatric patient who was initially suspected as sellar germinoma but later identified as RDD. We also conducted a systematic review about RDD involving sellar region. A total of only 14 cases were included and analyzed in our study in terms of clinical presentation, endocrine abnormality, radiological features, pathology, treatment, and follow up. The most common neurological manifestations of sellar RDD is diabetes insipidus and visual changes. Two typical kinds of MRI manifestations were presented in sellar RDD; one is like meningioma-like mass lesions, another showing infiltrative pattern that demonstrates hyperintense areas on T2WI. Currently, the treatment of RDD is tailored to the individual clinical circumstances. For sellar RDD, surgical treatment can be considered to completely remove or debulk the tumor.
Beyond human expertise: the promise and limitations of ChatGPT in suicide risk assessment
Authors: Zohar Elyoseph, Inbar Levkovich
Journal: Front Psychiatry (2023)
Keywords: chatgpt, artificial intelligence, diagnosis, psychological assessment, risk assessment, suicide risk, text vignette

ChatGPT, an artificial intelligence language model developed by OpenAI, holds the potential for contributing to the field of mental health. Nevertheless, although ChatGPT theoretically shows promise, its clinical abilities in suicide prevention, a significant mental health concern, have yet to be demonstrated. To address this knowledge gap, this study aims to compare ChatGPT's assessments of mental health indicators to those of mental health professionals in a hypothetical case study that focuses on suicide risk assessment. Specifically, ChatGPT was asked to evaluate a text vignette describing a hypothetical patient with varying levels of perceived burdensomeness and thwarted belongingness. The ChatGPT assessments were compared to the norms of mental health professionals. The results indicated that ChatGPT rated the risk of suicide attempts lower than did the mental health professionals in all conditions. Furthermore, ChatGPT rated mental resilience lower than the norms in most conditions. These results imply that gatekeepers, patients or even mental health professionals who rely on ChatGPT for evaluating suicidal risk or as a complementary tool to improve decision-making may receive an inaccurate assessment that underestimates the actual suicide risk.
Nonsurgical Management of an Extensive Endodontic Periapical Lesion: A Case Report
Authors: Amirabbas Moshari, Mehdi Vatanpour, Ehsan EsnaAshari, Mehrsa Zakershahrak, Afsoon Jalali Ara
Journal: Iran Endod J (2017)
Keywords: cyst, endodontic therapy, nonsurgical, periapical lesion
MeSH terms: Case Reports

Long-term success of endodontic treatment is dependent on adequate and appropriate cleaning and shaping of the root canal along with proper and correct obturation of the entire prepared space. This article aims to report an exceptional non-surgical and orthograde endodontic treatment of maxillary right central incisor with an extensive radiolucent lesion in a 17-year-old male. Six and 20-month follow-ups showed significant changes, including bone formation and periapical healing within the lesion. The patient was asymptomatic. After 20 months, complete radiographic and clinical healing of the periapical lesion was observed.
Surgical fenestration and rehabilitation of a sports traumatic non-union ischial tuberosity fracture - Case report
Authors: Jens Erik Jorgensen, Carsten M Mølgaard, Jens Kristinsson
Journal: Int J Surg Case Rep (2018)
Keywords: adolescent apophyseal injury, fenestration, ischial tuberosity avulsion, non-union, sports injury, trauma

Introduction:
Ischial tuberosity fractures and complications may be an under recognized diagnosis in adolescent athletes. Operative interventions differ and may include anchor re-fixations, resections and osteostimulating drilling and partial hamstring releases. This case report illustrates a novel and less invasive management of a non-union following a proximal ischial tuberosity avulsion. This approach has to our knowledge not previously been described.
Presentation of case:
The patient, a 14 years old female athlete, was complaining of sharp pain in the right side of the groin region, after an acute injury during a handball game. The pain was concentrated at the insertion of the adductor muscle group to the superior pubic ramus and the pubic symphysis. She was referred to our orthopaedic sports clinic after 6 months of unsuccessful conservative treatment. An MRI scan showed an ischial tuberosity non-union with a displacement less than 10 mm. Nine months after injury a surgical procedure was performed with the patient under general anaesthesia. An ultrasound guided fenestration of the non-union of the ischial tuberosity with a 1.6 mm Kirshner wire was performed. The enthesis was fenestrated 10 times, using a 1.2 mm syringe. Finally, a 5 ml local anaesthetic was injected in the area. 17 months after the trauma and 8 months postoperatively the patient had a full return to normal day activities including pain free squats and lunges. Radiologically the non-union was healed.
Conclusion:
This novel and less invasive surgical procedure may therefore be seen as a possible treatment option to non-union of the ischial tuberosity with minimal displacement.
A rare presentation of a spinal diffuse midline glioma in a child: a case report
Authors: Zineb Isfaoun, Khadija Laasri, Manal Jidal, Nadia Cherradi, Adil Melhaoui, Latifa Chat, Siham El Haddad, Maria El Kababri, Mohamed El Khorassani, Amina Kili, Naoual El Ansari, Laila Hessissen
Journal: Pan Afr Med J (2023)
Keywords: diffuse midline glioma, h3k27 altered, case report, child
MeSH terms: Brain Neoplasms / pathology, Glioma / diagnosis, Spinal Cord Neoplasms / diagnosis, Spinal Cord Neoplasms / pathology, Case Reports, Child, Histones / genetics, Humans, Mutation, Neck / pathology, Histones

Our patient had an extremely rare type of pediatric Diffuse Midline Glioma (DMG) with modified H3 K27 that occurred in the cervical spinal cord. Due to its location in the spinal cord, slow clinical presentation with torticollis for 7 months, and the non-specific radiological appearance of this tumour, it was initially considered to be a low-grade glioma. Based on imaging findings, the neurosurgery team performed a complete surgical resection, but the pathological features were consistent with a high-grade, diffuse midline glioma. Therefore, we are reporting a case of an altered high-grade DMG H3K27 glioma, which is difficult to diagnose due to its slow clinical symptoms which caused a delay in diagnosis, non-specific imaging, and with difficulty in accessing histopathological markers in low and middle income countries (LMIC).
Angiosarcoma of the pulmonary artery mimicking pulmonary thromboembolism
Authors: Sitang Nirattisaikul, Arunee Dechaphunkul, Keerati Hongsakul
Journal: SA J Radiol (2021)
Keywords: ct pulmonary angiography, angiosarcoma, pulmonary artery, pulmonary sarcoma, pulmonary thromboembolism
MeSH terms: Case Reports

Primary pulmonary angiosarcomas (PPAs) are rare, and often, their diagnosis is delayed because of insidious clinical symptoms and imaging findings mimicking pulmonary thromboembolism (PE). A 33-year-old female patient presented with chest pain and progressive dyspnoea. Her initial diagnosis, based on clinical symptoms and CT pulmonary angiography (PA) findings, was PE. However, after treatment with anticoagulants, the patient failed to improve. A follow-up CTPA and further CT-guided biopsy results were compatible with angiosarcoma.
The Gingival Oral Lichen Planus: A Periodontal-Oral Medicine Approach
Authors: Abdulhameed Alsarraf, Kunj Mehta, Nabil Khzam
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

We present a case of a 77-year-old female who suffered from oral lichen planus (OLP) involving her gingiva and bilateral buccal mucosa for over 6 months. We showed that oral hygiene measures and conventional periodontal treatment and strict maintenance were sufficient to control the gingival involvement of OLP. The mechanism of OLP is complex and not yet fully understood. The focus of discussion in our case was that knowledge and understanding of gingival pathology are fundamental for a determined management approach. Our case was managed according to the suggested protocols in previous case studies. A multidisciplinary approach allowed for accurate diagnosis and treatment tailored to the presented case.
Combined Orthodontic and Restorative Minimally Invasive Approach to Diastema and Morphology Management in the Esthetic Area. Clinical Multidisciplinary Case Report with 3-Year Follow-Up
Authors: L Giannetti, R Apponi
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Introduction:
Ceramic laminates are restorations that are bonded using adhesive techniques, which provide for the treatment of the prepared dental elements according to well-defined steps. Adhesive cementation guarantees high predictability and esthetics. Orthodontic treatment is the first choice in patients with a dental misalignment. Patients who have dental element color and shape issues will undergo restorative treatment following orthodontics. Case Report. This clinical report describes a case treated with an interdisciplinary approach (orthodontic and prosthetic) of a patient who presented with diastemas, inversion of dental axes, small clinical crowns, and chromatic imperfections in the anterior maxillary teeth. The esthetic expectations of the patient for the anterior portion of the maxillary anterior teeth have been successfully achieved through orthodontic treatment and the realization of ceramic veneers. An accurate interdisciplinary evaluation of the treatment was necessary for a satisfactory result in the anterior maxillary teeth esthetically compromised in several aspects. Discussion. The modern materials used with the strict protocol of the adhesive procedures allow a minimally invasive, highly esthetic approach with an excellent long-term prognosis. The restorations must reproduce the physiological characteristics of the natural teeth aiming at an excellent biological, biomechanical, functional, and esthetic integration. Many adult patients come to visit with a combination of problems; the esthetic rehabilitation of these cases requires the evaluation of the quantity of gingival exposure, of the gingival architecture, of the size of the clinical crowns, and of the dental position. The ideal treatment of these cases involves an interdisciplinary approach. Prosthodontists, periodontists, orthodontists, and dental technicians must work together because the understanding of the various phases of treatment is fundamental to achieve the desired clinical result.
Conclusion:
The coordinated treatment of the orthodontist, periodontist, and prosthodontist, with careful consideration of the expectations and requests of patients, was fundamental for the success and satisfaction of the patient.