OpenMed/multicare-articles huggingface dataset:
Case Report: Stroke-like migraine attacks after radiation therapy syndrome: a rare complication 26 years after cranial radiotherapy
Authors: Olga Duranikova, Igor Straka, Lubomir Melichercik, Peter Marcek, Karin Gmitterova, Peter Valkovic
Journal: Front Oncol (2023)
Keywords: smart syndrome, brain tumor, cranial radiotherapy, neurooncology, stroke-like migraine attacks after radiation therapy syndrome
MeSH terms: Case Reports

Stroke-like migraine attacks after radiation therapy (SMART) syndrome is a rare delayed complication of cranial radiotherapy, that may present decades after brain irradiation. Here we present a case of 41-year old patient with a history of grade 3 oligodendroglioma, epilepsy and migraine, 26 years after brain radiation therapy, who was admitted with right hemicranial headache, nausea, left homonymous hemianopsia, weakness of the left arm and left-sided hemihypesthesia. After considering alternate diagnoses, we ultimately diagnosed SMART syndrome. Despite its rare occurrence and unknown pathophysiology, there are more case reports of SMART syndrome reported due to advancements in oncology treatment and increasing patients' survival rates. Therefore, diagnosis of SMART syndrome should always be considered in patients with a history of cranial radiation presenting with focal neurologic deficits and migraine, especially with a change in pattern of their usual migraine attack.
Atypical Mal de Meleda in a Hispanic Patient
Authors: Mónica Guevara, Michelle Mafla, Camila Miño
Journal: Case Rep Dermatol Med (2023)
MeSH terms: Case Reports

Mal de Meleda (MDM) is a rare autosomal palmoplantar keratoderma (PPK) skin disorder (estimated incidence of 1 per 100,000 people) commonly associated with consanguinity and early childhood onset. MDM is characterized by bilateral diffusion of PPK plaques with delimited yellowish lesions that transgredien to the dorsum of the hands and feet. Additional features include nail dystrophy, lichenoid lesions, hyperhidrotic maceration, involvement of the knees and elbows, malodor, fungal superinfections, and digital constrictions. A male patient aged 42 years presented with asymptomatic, chronic, and diffused PPK lesions that progressed to the dorsal surface of the hands and feet, along with knees and elbows involvement. On clinical examination, asymmetrical lesions were observed on the hands, the left palm with yellowish waxy hyperkeratotic plaques, and the right palm with erythematous scaling and hyperkeratotic interphalangeal rings. The soles of the feet presented with yellow waxy hyperkeratotic plaques. In addition, nail dystrophy and loss of dermatoglyphics were observed. Initially, symptomatic topical treatment was established. However, owing to the lack of clinical response, a biopsy was performed, which revealed thickened corneal layer, acanthosis, spongiosis, and perivascular lymphohistiocytic infiltrate. MDM diagnosis was confirmed based on a personal history of consanguinity, clinical presentation with absence of systemic symptoms, and transgredien pattern of the lesions. Systemic treatment with low doses of isotretinoin (10 mg orally everyday) was initiated, and two months later, slight clinical improvement has been observed until date. The present case report describes MDM in a Hispanic patient, who presented with asymmetric PPK lesions on the hands and received isotretinoin treatment.
Identification of Smith-Magenis syndrome cases through an experimental evaluation of machine learning methods
Authors: Raúl Fernández-Ruiz, Esther Núñez-Vidal, Irene Hidalgo-Delaguía, Elena Garayzábal-Heinze, Agustín Álvarez-Marquina, Rafael Martínez-Olalla, Daniel Palacios-Alonso
Journal: Front Comput Neurosci (2024)
Keywords: smith–magenis syndrome, acoustics, cepstral peak prominence, children, machine learning

This research work introduces a novel, nonintrusive method for the automatic identification of Smith-Magenis syndrome, traditionally studied through genetic markers. The method utilizes cepstral peak prominence and various machine learning techniques, relying on a single metric computed by the research group. The performance of these techniques is evaluated across two case studies, each employing a unique data preprocessing approach. A proprietary data "windowing" technique is also developed to derive a more representative dataset. To address class imbalance in the dataset, the synthetic minority oversampling technique (SMOTE) is applied for data augmentation. The application of these preprocessing techniques has yielded promising results from a limited initial dataset. The study concludes that the k-nearest neighbors and linear discriminant analysis perform best, and that cepstral peak prominence is a promising measure for identifying Smith-Magenis syndrome.
Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot-Marie-Tooth disease
Authors: Gao-Hui Cao, Mei-Fang Zhao, Yi Dong, Liang-Liang Fan, Yi-Hui Liu, Yao Deng, Lu-Lu Tang
Journal: Front Neurol (2024)
Keywords: cmt dominant intermediate d, charcot–marie–tooth disease, myelin protein zero, missense variant, whole exome sequencing
MeSH terms: Case Reports

This report presents a case of Charcot-Marie-Tooth dominant intermediate D (CMTDID), a rare subtype of Charcot-Marie-Tooth disease, in a 52 years-old male patient. The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle atrophy. Whole exome sequencing and Sanger sequencing suggested that a novel variant (NM_000530.8, c.145C>A/p.His49Asn) of MPZ may be the genetic lesion in the patient. The bioinformatic program predicted that the new variant (p.His49Asn), located at an evolutionarily conserved site of MPZ, was neutral. Our study expands the variant spectrum of MPZ and the number of identified CMTDID patients, contributing to a better understanding of the relationship between MPZ and CMTDID.
CPX-351 in FLT3-mutated acute myeloid leukemia
Authors: Claire Andrews, Vinod Pullarkat, Christian Recher
Journal: Front Oncol (2023)
Keywords: cpx-351, flt3 inhibitors, flt3 mutations, acute myeloid leukemia, chemotherapy
MeSH terms: Review

CPX-351, a dual-drug liposomal encapsulation of daunorubicin and cytarabine in a 1:5 molar ratio, is approved for the treatment of newly diagnosed therapy-related acute myeloid leukemia (AML) or AML with myelodysplasia-related changes. In a pivotal phase III trial, CPX-351 significantly improved overall survival compared with standard-of-care 7 + 3 chemotherapy (7 days cytarabine; 3 days daunorubicin) in adults aged 60-75 years with newly diagnosed high-risk or secondary AML (median = 9.56 months vs. 5.95 months; hazard ratio = 0.69; 95% confidence interval = 0.52-0.90; p = 0.003). Approximately 30% of patients with newly diagnosed AML have mutations in the FLT3 gene, which may be associated with poor outcomes. Here, we review the current in vitro, clinical, and real-world evidence on the use of CPX-351 in patients with AML and mutations in FLT3. Additionally, we review preliminary data from clinical trials and patient case reports that suggest the combination of CPX-351 with FLT3 inhibitors may represent another treatment option for patients with FLT3 mutation-positive AML.
A questionnaire-based investigation of the swimming puppy syndrome: 115 dogs
Authors: Lea Rumpel, Petra Kölle, Monika A Mille, Susanne K Lauer, Yury Zablotski, Andrea Fischer
Journal: Front Vet Sci (2023)
Keywords: breed predisposition, flat puppy, growth, litter, nutrition, paresis, swimmer puppy, weakness

Swimming Puppy Syndrome (SPS) is a benign reversible condition of unknown etiology in multiple dog breeds. Affected dogs show laterally abducted limbs and are unable to stand and walk on their own. The current knowledge of this condition derives from few case reports or small case series. Therefore, the aim of this study was to collect data on the clinical course from a large cohort of dogs with SPS with an online questionnaire supported by video footage. Potential risk factors were compared between 110 litters with SPS and 103 unaffected litters. SPS was reported in 115 dogs from 48 different breeds comprising a wide range of small, middle, and large breeds. Litters with SPS were significantly smaller than unaffected litters. Cesarean sections were reported more frequently in affected litters, but the overall rate of reported birth complications did not differ significantly from unaffected litters. Most puppies were able to stand and walk at a median age of 4.5 weeks (up to 12 weeks) and clinical signs resolved at a median age of six weeks (up to 12 weeks). Puppies from large breeds showed faster recovery than puppies from medium and small breeds. Occasionally, residual deficits were reported and only three dogs failed to recover. A clustering of SPS occurred in closely related litters in four kennels of four different dog breeds (Greater Swiss Mountain Dog, Golden Retriever, Miniature Bull Terrier, Norwich Terrier). The study shows the benign clinical course of SPS in a large cohort of puppies from multiple dog breeds. Potential risk factors including reports on birth complications, size and muscle mass compared to littermates and diet of the dam during pregnany were evaluated and no influence on the occurrence of SPS was identified.
Case report: Comprehensive follow-up of a Colombian family carrying a novel MEN1 variant linked to a rare ACTH-producing pancreatic neuroendocrine carcinoma
Authors: Julián C Riaño-Moreno, Angélica María González-Clavijo, William C Torres J, Vilma L Medina B, Alfredo Ernesto Romero-Rojas, Isabella Vieda-Celemin, Jordan A Avila-Moya, Johan A Baron-Cardona, Juan P Bravo-Patiño, Oscar S Torres-Zambrano, Luis Felipe Fierro Maya
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: cascade genetic screening, frameshift variant, multiple endocrine neoplasia type 1 (men1), neuroendocrine - carcinoma, neuroendocrine tumors (nets)
MeSH terms: Adrenocorticotropic Hormone / blood, Adrenocorticotropic Hormone / metabolism, Carcinoma, Neuroendocrine / genetics, Carcinoma, Neuroendocrine / pathology, Multiple Endocrine Neoplasia Type 1 / complications, Multiple Endocrine Neoplasia Type 1 / genetics, Pancreatic Neoplasms / diagnosis, Pancreatic Neoplasms / genetics, Pedigree, Case Reports, Adult, Colombia, Female, Follow-Up Studies, Humans, Male, Middle Aged, Proto-Oncogene Proteins / genetics, MEN1 protein, human, Adrenocorticotropic Hormone, Proto-Oncogene Proteins

Background:
Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disorder marked by pathogenic variants in the MEN1 tumor suppressor gene, leading to tumors in the parathyroid glands, pancreas, and pituitary. The occurrence of ACTH-producing pancreatic neuroendocrine carcinoma is exceedingly rare in MEN1.
Case presentation:
This report details a Colombian family harboring a novel MEN1 variant identified through genetic screening initiated by the index case. Affected family members exhibited primary hyperparathyroidism (PHPT) symptoms from their 20s to 50s. Uniquely, the index case developed an ACTH-secreting pancreatic neuroendocrine carcinoma, a rarity in MEN1 syndromes. Proactive screening enabled the early detection of pituitary neuroendocrine tumors (PitNETs) as microadenomas in two carriers, with subsequent surgical or pharmacological intervention based on the clinical presentation.
Conclusion:
Our findings underscore the significance of cascade screening in facilitating the early diagnosis and individualized treatment of MEN1, contributing to better patient outcomes. Additionally, this study brings to light a novel presentation of ACTH-producing pancreatic neuroendocrine carcinoma within the MEN1 spectrum, expanding our understanding of the disease's manifestations.
Rare pediatric synchronous bilateral testicular germ cell tumors of different pathological types: a case report
Authors: Yikun Feng, Yu Qu, Rongde Wu, Wei Liu, Guoqiang Du
Journal: Front Pediatr (2024)
Keywords: btgcts, mature teratoma, radical orchiectomy, testis-sparing surgery, yolk sac tumor
MeSH terms: Case Reports

The occurrence of synchronous bilateral testicular germ cell tumors (BTGCTs) of different pathologic histologic types in pediatric patients is rare. We reported a case of a left testicular yolk sac tumor (YST) combined with a right testicular mature teratoma. Left orchiectomy and right testis-sparing surgery were performed. Retroperitoneal recurrence was noted 6 months after surgery. The patient underwent reoperation for the resection of a retroperitoneal mass, which was pathologically diagnosed as a recurrent YST. A full cycle of chemotherapy was then administered. No tumor metastasis or recurrence has yet been detected. We present this new case, and we review the previous literature on synchronous BTGCTs to explore the clinicopathologic features and summarize the diagnostic and therapeutic experience. Radical orchiectomy, as the standard treatment for YSTs, should be considered with caution in patients with bilateral testicular tumors. Rapid intraoperative frozen pathology provides support for timely surgical planning. In patients with intraoperative frozen pathologic specimens suggestive of benign lesions, testis-sparing surgery is the preferred treatment option.
Radiofrequency Ablation and Intrauterine Transfusion in a Delayed Diagnosed Acardiac Twin Pregnancy
Authors: Fatemeh Rahimi-Sharbaf, Mahboobeh Shirazi, Kamran Hessami, Maasoumeh Saleh, Fatemeh Golshahi, Sara Saeedi, Abolfazl Shirdel Abdolmaleki, Seyede Houra Mousavi Vahed, Behnaz Nouri, Behrokh Sahebdel
Journal: Case Rep Obstet Gynecol (2023)
MeSH terms: Case Reports

Twin reversed arterial perfusion (TRAP) sequence or acardiac twin is a rare and severe complication of monochorionic multiple pregnancies. Acardiac twin accounts for 10% of all TRAP sequences, which is the most morphologically developed acardius. We present an undiagnosed TRAP sequence case up to 24 weeks of gestation who underwent successful amnioreduction, radiofrequency ablation (RFA), and intrauterine transfusion (IUT). During follow-up, hydrops of surviving co-twin disappeared, and fetal heart function improved. Finally, a healthy girl weighing 2400 g was born at 36 weeks of gestation. To our knowledge, this is the first reported acardiac twin pregnancy, which requires IUT, in addition to RFA, due to late diagnosis. Therefore, this case report presents successful management options for TRAP sequence cases diagnosed late in pregnancy.
Case report: Bullous pemphigoid combined with Sjögren's syndrome complicated by central nervous system infection
Authors: Xing-Yue Chen, Jun Chen, Kun-Lan Long, Peng Ding, Rong Li, Li-Jia Zhi
Journal: Front Immunol (2024)
Keywords: sjogren’s syndrome, autoimmune diseases, bullous pemphigoid, central nervous system infection, pathological mechanisms
MeSH terms: Central Nervous System Infections / complications, Central Nervous System Infections / diagnosis, Central Nervous System Infections / drug therapy, Pemphigoid, Bullous / complications, Pemphigoid, Bullous / diagnosis, Pemphigoid, Bullous / drug therapy, Pemphigoid, Bullous / etiology, Sjogren's Syndrome / complications, Sjogren's Syndrome / diagnosis, Sjogren's Syndrome / drug therapy, Sjogren's Syndrome / immunology, Case Reports, Aged, Antibodies, Monoclonal, Humanized / therapeutic use, Female, Humans, Methylprednisolone / therapeutic use, Methylprednisolone, Antibodies, Monoclonal, Humanized

Background:
Bullous pemphigoid (BP) is the most common autoimmune blistering skin disease in humans, characterized by tense blisters, erosions, urticarial lesions, and itching on normal or erythematous skin. Many autoimmune diseases are considered comorbidities of BP, but clinical case reports of BP complicated by Sjögren's syndrome are very scarce. Furthermore, cases of central nervous system infection secondary to both autoimmune diseases are even rarer.
Case presentation:
We report a 74-year-old woman diagnosed with bullous pemphigoid, who showed relief of active lesions after treatment with methylprednisolone and dupilumab injections. However, she was admitted for pulmonary infection during which she was diagnosed with Sjögren's syndrome (SS). Subsequently, the patient developed altered consciousness, indicating a central nervous system infection. Adjustment of steroid dosage and aggressive antimicrobial therapy led to alleviation of symptoms.
Conclusion:
The coexistence of autoimmune subepidermal blistering diseases and SS is rare. The role of SS in the pathogenesis of skin lesions is unclear, and the relationship between these blistering diseases and SS remains elusive. Further research is needed to determine whether there are common pathological mechanisms between the two conditions.
Crisis of objectivity: using a personalized network model to understand maladaptive sensemaking in a patient with psychotic, affective, and obsessive-compulsive symptoms
Authors: Aleš Oblak, Matic Kuclar, Katja Horvat Golob, Alina Holnthaner, Urška Battelino, Borut Škodlar, Jurij Bon
Journal: Front Psychol (2024)
Keywords: rdoc, enactive psychiatry, obsessive compulsive disorder, personalized network model, psychiatric comorbidity, qualitative phenomenology, schizoaffective disorder

Introduction:
Psychiatric comorbidities have proven a consistent challenge. Recent approaches emphasize the need to move away from categorical descriptions of symptom clusters towards a dimensional view of mental disorders. From the perspective of phenomenological psychopathology, this shift is not enough, as a more detailed understanding of patients' lived experience is necessary as well. One phenomenology-informed approach suggests that we can better understand the nature of psychiatric disorders through personalized network models, a comprehensive description of a person's lifeworld in the form of salient nodes and the relationships between them. We present a detailed case study of a patient with multiple comorbidities, maladaptive coping mechanisms, and adverse childhood experiences.
Methods:
The case was followed for a period of two years, during which we collected multiple streams of data, ranging from phenomenological interviews, neuropsychological assessments, language analysis, and semi-structured interviews (Examination of Anomalous Self Experience and Examination of Anomalous World Experience). We analytically constructed a personalized network model of his lifeworld.
Results:
We identified an experiential category "the crisis of objectivity" as the core psychopathological theme of his lifeworld. It refers to his persistent mistrust towards any information that he obtains that he appraises as originating in his subjectivity. We can developmentally trace the crisis of objectivity to his adverse childhood experience, as well as him experiencing a psychotic episode in earnest. He developed various maladaptive coping mechanisms in order to compensate for his psychotic symptoms. Interestingly, we found correspondence between his subjective reports and other sources of data.
Discussion:
Hernan exhibits difficulties in multiple Research Domain Criteria constructs. While we can say that social sensorimotor, positive valence, and negative valence systems dysfunctions are likely associated with primary deficit (originating in his adverse childhood experience), his cognitive symptoms may be tied to his maladaptive coping mechanisms (although, they might be related to his primary disorder as well).
A man with culture sterile cavitating lung lesions: molecular techniques can provide the key to diagnosis
Authors: Ranvir S P Cheema, Prabhjoyt K Kler, Alpha Madu, Joanna Macve, Andrew MacDuff
Journal: Access Microbiol (2023)
Keywords: 16s rdna pcr, atypical pneumonia, case report, community acquired pneumonia, lung biopsy
MeSH terms: Case Reports

A 20-year-old male presented to the Emergency Department with pyrexia, dyspnoea, chest pain and haemoptysis. Cavitating lung lesions were noted on chest X-ray and the patient was admitted to the intensive care unit where he was intubated and ventilated. Routine investigations including serial cultures did not provide an aetiological diagnosis. As such, a CT-guided lung biopsy was carried out and 16S rDNA PCR was undertaken on the sample. This identified Fusobacterium necrophorum as the causative organism. The patient was treated for Lemierre's syndrome and successfully discharged from hospital. This case highlights how DNA tissue typing on a lung biopsy sample can be the key to successful diagnosis in an atypical pneumonia and raises the question as to whether this infrequently used approach should be added to forthcoming community acquired pneumonia guidelines.
Case report: Emerging species in post-traumatic endophthalmitis: Acinetobacter johnsonii
Authors: Jiezhong Hu, Chunling Huang, Jingyi Li, Caixia Fang, Jiali Li, Songfu Feng
Journal: Front Med (Lausanne) (2024)
Keywords: acinetobacter johnsonii, antibiotic susceptibility, endophthalmitis, open globe injury, pathogen identification
MeSH terms: Case Reports

Acinetobacter johnsonii is an uncommon cause of endophthalmitis. This case report describes a 40-year-old male admitted with pain, redness, and vision loss in his right eye after an open globe injury by a steel fragment. Clinical assessment confirmed post-traumatic endophthalmitis with an intraocular foreign body. The patient underwent a vitreous biopsy, lensectomy, vitrectomy, and intravitreal antibiotics, followed by laser photocoagulation and foreign body extraction via the pars plana. Acinetobacter johnsonii was isolated from the vitreous culture. A combination of vancomycin, levofloxacin and ceftazidime was administered, leading to reduced infection and inflammation. Postoperatively at one month, the patients' best-corrected visual acuity had improved to 20/63. The anterior segment exhibited no inflammation, the vitreous cavity was clear, and the retina with hemorrhage and laser treatment remained stable. The one-year follow-up confirmed the continued stability of the ocular condition. Acinetobacter johnsonii, a rare cause of endophthalmitis often linked to trauma or surgery, should be recognized as a possible pathogen in post-traumatic endophthalmitis cases, meriting clinical consideration.
Low Dose Pregabalin Improves Gastrointestinal Symptoms of Crohn's Disease
Authors: Antonio Maria D'Onofrio, Federica Di Vincenzo, Gaspare Filippo Ferrajoli, Franco Scaldaferri, Giovanni Camardese
Journal: Case Rep Gastrointest Med (2024)
MeSH terms: Case Reports

Inflammatory bowel diseases (IBD), including Crohn's disease and ulcerative colitis, are lifelong conditions with no definite cure. Several studies demonstrated that patients with IBD more frequently experience symptoms of common mental disorders, such as anxiety and depression, because of bidirectional communication through the gut-brain axis and the chronicity of symptoms, as well as because of impaired quality of life and reduced social functioning. However, psychological conditions of affected patients are often underestimated and not fully considered. Herein, we present the case of a 37-year-old woman with Crohn's disease and a mild depressive condition, characterized by anxious distress, tachycardia, tachypnea, tremors, sweating, avoidant behaviors, and intestinal somatizations (diarrhea), who was treated with Pregabalin upon indication of the referring psychiatrist. Following the beginning of the treatment, the patient rapidly reported an improvement in the overall clinical symptoms as well as a better management of psychic and physical anxiety with a marked reduction in diarrheal discharges under stress at work. After 6 months of Pregabalin therapy, we additionally observed an improvement in Crohn's disease activity, both clinically, in the laboratory, and endoscopically. Our case showed that patients with Crohn's disease and anxiety problems may benefit from low-dose Pregabalin medication to improve both their mental and physical condition.