OpenMed/multicare-articles huggingface dataset:
Infectious endocarditis presenting as intracranial hemorrhage in a patient admitted for lumbar radiculopathy
Authors: David Ethan Kahn, Kristine O'Phelan, Ross Bullock
Journal: Case Rep Crit Care (2011)
MeSH terms: Case Reports

Infectious endocarditis is frequently found in the neurologic intensive care unit and may rarely be the cause of intracranial hemorrhage. In such instances, further diagnostic imaging to search for an underlying structural lesion is prudent. Well-known causes of these hemorrhages include cardioembolism with hemorrhagic transformation, septic emboli, and mycotic aneurysms. We present a case of a patient who was admitted for routine evaluation and pain management of lumbar radiculopathy, who developed a large intraparenchymal hemorrhage and was found to have bacterial endocarditis. This was diagnosed retrospectively from positive hematoma cultures and a vegetation on transesophageal echocardiogram. Further evaluation revealed a mycotic aneurysm.
Femoral head metastases from primary mucinous lung adenocarcinoma with left hip pain: A case report and literature review
Authors: Hang Xue, Wu Zhou, Zhenhe Zhang, Adriana C Panayi, Yuan Xiong, Shuhua Yang, Bobin Mi, Guohui Liu, Xianzhe Liu
Journal: Front Surg (2022)
Keywords: atypical symptoms, bone metastasis, case report, lung adenocarcinoma, osteonecrosis
MeSH terms: Case Reports

Background:
Primary mucinous lung adenocarcinoma, a subtype of lung adenocarcinoma, is extremely rare. Currently, as there are no specific diagnostic features, it is easy to delay the diagnosis or even to misdiagnose when atypical symptoms are present.
Case summary:
This case details a patient with primary mucinous lung adenocarcinoma and metastasis to the femoral head. The sole symptom was left hip pain and the initial diagnosis was isolated femoral head necrosis.
Conclusions:
By presenting this rare case report and the experiences learned from it, we hope to assist clinicians to identify bone metastasis cases with non-typical symptoms in order to make the correct diagnosis as soon as possible.
A parathyroid carcinoma within a cold thyroid nodule
Authors: Ll Travaini, G Trifiro, G Paganelli
Journal: Ecancermedicalscience (2009)
MeSH terms: Case Reports

We report the case of a 71-year-old woman who was referred to our institute with a solid nodule in the right thyroid lobe and hypercalcemia. Ultrasound revealed a well-vascularized right thyroid nodule that was identified as a cold area by (99m)Tc-sodium pertechnetate scan. Fine-needle aspiration showed a follicular lesion and blood tests revealed hypercalcemia and hyperparathyroidism. A (99m)Tc-methoxyisobutylisonitrile ((99m)Tc-Sestamibi) scan was subsequently performed revealing a focal area of increased uptake in the right thyroid lobe, within the cold area detected by the thyroid scan. A right emithyroidectomy and right superior and inferior parathyroidectomy was performed and histopathological examination showed a parathyroid carcinoma (immunohistochemistry positive for PTH and chromogranin A, Ki-67 10%) associated with follicular hyperplasia.
Hemichorea-hemiballismus as an initial manifestation in a Moroccan patient with acquired immunodeficiency syndrome and toxoplasma infection: a case report and review of the literature
Authors: Samira Rabhi, Kawthar Amrani, Mustapha Maaroufi, Zineb Khammar, Hajar Khibri, Maha Ouazzani, Rhizlane Berrady, Siham Tizniti, Ouafae Messouak, Faouzy Belahsen, Wafaa Bono
Journal: Pan Afr Med J (2011)
MeSH terms: Acquired Immunodeficiency Syndrome / complications, Dyskinesias / etiology, Toxoplasmosis, Cerebral / complications, Case Reports, Review, Female, Humans, Middle Aged, Morocco

Neurologic signs and symptoms may represent the initial presentation of AIDS in 10-30% of patients. Movement disorders may be the result of direct central nervous system infection by human immunodeficiency virus (HIV) or the result of opportunistic infections. We report the case of a 59 years old woman who had hemichorea-hemiballismus subsequently found to be secondary to a cerebral toxoplasmosis infection revealing HIV infection. Movement disorders, headache and nausea were resolved after two weeks of antitoxoplasmic treatment. Brain MRI control showed a marked resolution of cerebral lesion. Occurrence of hemichorea-ballismus in patient without familial history of movement disorders suggests a diagnosis of AIDS and in particular the diagnosis of secondary cerebral toxoplasmosis. Early recognition is important since it is a treatable entity.
T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent
Authors: Ana V Marin, Anaïs Jiménez-Reinoso, Marina S Mazariegos, Elena Román-Ortiz, José R Regueiro
Journal: Front Immunol (2022)
Keywords: siod, smarcal1, schimke, t-cell, immunosuppression, kidney failure, lymphopenia
MeSH terms: Immunologic Deficiency Syndromes / complications, Immunologic Deficiency Syndromes / genetics, Nephrotic Syndrome / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, DNA Helicases / genetics, DNA Helicases / metabolism, Humans, Receptors, Antigen, T-Cell / genetics, Signal Transduction, DNA Helicases, Receptors, Antigen, T-Cell, SMARCAL1 protein, human, Schimke immunoosseous dysplasia

Schimke immuno-osseous dysplasia (SIOD) caused by mutations in SMARCAL1 is an ultra-rare disease characterized by specific facial features, skeletal dysplasia, and steroid-resistant nephrotic syndrome, which often leads to kidney failure and requires transplantation. Cellular (T-cell) deficiency, lymphopenia, and infections have been frequently reported, but whether they are due to T-cell-intrinsic defects in T-cell receptor (TCR) signaling associated with SMARCAL1 deficiency or to T-cell-extrinsic effects such as the impaired proliferation of hematopoietic precursors or T-cell-specific immunosuppression after renal transplantation remains unknown. We have explored the effects of SMARCAL1 deficiency on T-cell receptor signaling in primary and immortalized T cells from a 9-year-old SIOD patient under immunosuppression treatment when compared to healthy donors. Immortalized T cells recapitulated the SMARCAL1 deficiency of the patient, as judged by their impaired response to gamma irradiation. The results indicated that TCR-mediated signaling was normal in SIOD-derived immortalized T cells but strongly impaired in the primary T cells of the patient, although rescued with TCR-independent stimuli such as PMA + ionomycin, suggesting that SIOD-associated T-cell signaling is not intrinsically defective but rather the result of the impaired proliferation of hematopoietic precursors or of T-cell-specific immunosuppression. The lack of early thymic emigrants in our patients may support the former hypothesis.
Case Report: Locking Plate for Cubitus Varus Correction in a 7-Year-Old Girl With Osteogenesis Imperfecta
Authors: Pan Hong, Ruikang Liu, Saroj Rai, Jin Li
Journal: Front Pediatr (2022)
Keywords: case report, cubitus varus, locking plate, osteogenesis imperfecta, pediatrics
MeSH terms: Case Reports

Background: Cubitus varus deformity is a common complication of untreated elbow fractures in children. However, cubitus varus in osteogenesis imperfecta (OI) children is a rare but challenging situation. To the author's knowledge, this is the first study discussing the correction of cubitus varus deformity in patient with OI. Case Presentation: Here we report a case of a 7-year-old OI girl with cubitus varus deformity due to a supracondylar fracture of humerus 3 year ago. The patient's parent gave a history of supracondylar fracture of left humerus in 2015. Without medical intervention, the patient was admitted into our institution for corrective surgery with the diagnosis of osteogenesis imperfecta and cubitus varus deformity in the left arm. Result: Medications including calcium, vitamin D and bisphosphonates were administered before the corrective surgery of cubitus varus, and a single locking plate was used to fixate the osteotomy. After the surgery, the appearance and range of motion (ROM) of the left arm was almost normal. Combined with gradual rehabilitation, the ROM of the left arm was normal without pain during daily use within the 1-year follow up. The hardware was removed as the nailing of the forearm fractures was performed at the same time. In the latest follow-up in September 2021, the appearance and ROM of the left arm was normal. Conclusion: Cubitus varus is a common deformity in children with elbow injuries, but it presents a challenging situation in compound fractures in OI patients. Locking plate combined with meticulous pharmacological intervention provides a good option for corrective surgery of cubitus varus in patients with OI.
Uncommon t12 burst fracture after an epileptic crisis
Authors: Akiki Alian
Journal: Case Rep Orthop (2011)
MeSH terms: Case Reports

People having an epileptic crisis present to the hospital with an altered mental status and generalised fatigue. The most common orthopaedic pathology associated to epilepsy is the undiagnosed posterior shoulder dislocation. These same patients often complain from back pain that is often neglected and misdiagnosed as muscular contracture following the epilepsy crisis. We describe here the case of a patient who presented after here epilepsy crisis with back pain. Investigations revealed an uncommon burst fracture that needed a surgical treatment. Conclusion. Back pain after an epileptic crisis should be investigated more seriously with an adequate clinical examination and a minimum of a radiography of the back.
A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report
Authors: Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice
Journal: Front Oncol (2023)
Keywords: atm, brca1, case report, double heterozygote, spliceogenic variant
MeSH terms: Case Reports

The widespread adoption of gene panel testing for cancer predisposition is leading to the identification of an increasing number of individuals with clinically relevant allelic variants in two or more genes. The potential combined effect of these variants on cancer risks is mostly unknown, posing a serious problem for genetic counseling in these individuals and their relatives, in whom the variants may segregate singly or in combination. We report a female patient who developed triple-negative high grade carcinoma in the right breast at the age of 36 years. The patient underwent bilateral mastectomy followed by combined immunotherapy and chemotherapy (IMpassion030 clinical trial). Two years later she developed a skin recurrence on the right anterior chest wall. Despite intensive treatment, the patient died at 40-year-old due to disease progression. Gene panel testing of patient's DNA revealed the presence of a protein truncating variant in ATM [c.1672G>T; p.(Gly558Ter)] and of a not previously reported variant in the BRCA1 exon 22 donor splice site [c.5406+6T>C], whose clinical significance was unknown. The analysis of patient's RNA revealed the up-regulation of two alternative BRCA1 mRNA isoforms derived from skipping of exon 22 and of exons 22-23. The corresponding predicted protein products, p.(Asp1778GlyfsTer27) and p.(Asp1778_His1822del) are both expected to affect the BRCA1 C Terminus (BRCT) domain. The two variants were observed to co-occur also in the proband's brother who, in addition, was heterozygous for a common variant (c.4837A>G) mapped to BRCA1 exon 16. This allowed to ascertain, by transcript-specific amplification, the lack of functional mRNA isoforms expressed by the c.5406+6T>C allele and provided evidence to classify the BRCA1 variant as pathogenic, according to the guidelines of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium. To our knowledge, excluding two cases detected following the screening of population specific recurrent variants, only one ATM/BRCA1 double heterozygote has been reported in the literature, being the case here described the one with the youngest age at cancer onset. The systematic collection of cases with pathogenic variants in more than one cancer predisposition gene is needed to verify if they deserve ad hoc counseling and clinical management.
Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness
Authors: Cora Cravero, Vincent Guinchat, Jean Xavier, Camille Meunier, Lautaro Diaz, Cyril Mignot, Diane Doummar, Sandra Chantot-Bastaraud, Angèle Consoli, David Cohen
Journal: Case Rep Psychiatry (2017)
MeSH terms: Case Reports

We report the case of a young boy with nonverbal autism and intellectual disability, with a rare de novo 1q21.3 microdeletion. The patient had early and extreme self-injurious behaviours that led to blindness, complicated by severe developmental regression. A significant reduction in the self-injurious behaviours and the recovery of developmental dynamics were attained in a multidisciplinary neurodevelopmental inpatient unit. Improvement was obtained after managing all causes of somatic pains, using opiate blockers and stabilizing the patient's mood. We offered both sensorimotor developmental approach with therapeutic body wrap and specific psychoeducation adapted to his blindness condition for improving his communication abilities.
Responsive mental health systems to address the poverty, homelessness and mental illness nexus: The Banyan experience from India
Authors: Lakshmi Narasimhan, Vandana Gopikumar, Vaishnavi Jayakumar, Joske Bunders, Barbara Regeer
Journal: Int J Ment Health Syst (2019)
Keywords: health systems, homelessness, mental health, service development, transition management, user centred

Background:
Mental health has gained prominence as a global public health priority. However, a substantial treatment gap persists in many low- and middle-income countries. Within this scenario, the nexus between homelessness, poverty and mental illness represents a particularly complex issue. This article presents the experience of The Banyan, a 25 years old non-profit organisation providing mental health care to people living in poverty in Tamil Nadu, India.
Case presentation:
The case study describes the evolution of The Banyan using a timeline narrative. By applying an action learning framework, the organisation's evolution through four lifecycles, strategy and the key elements underlying mental health system responses are identified and presented. 'User centred' and 'service integration' emerge as the main dimensions of The Banyan's responsive health system. Relating to these two attributes, a typology of services is derived, indicating the responsiveness of mental health systems in addressing complex problems. The role of the organisational culture and the expressed values during the transition is considered.
Conclusions:
The case study serves as an example of how responsive mental health systems may be constructed with both a user centred and a service integration focus.
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment
Authors: Parham Habibzadeh, Soroor Inaloo, Mohammad Silawi, Hassan Dastsooz, Mohammad Ali Farazi Fard, Forough Sadeghipour, Zahra Faghihi, Mohaddeseh Rezaeian, Majid Yavarian, Johann Böhm, Mohammad Ali Faghihi
Journal: Front Neurol (2019)
Keywords: ttc19, mitochondrial complex iii deficiency, mitochondrial diseases, mitochondrial encephalomyopathies, neurodegenerative diseases
MeSH terms: Case Reports

Mitochondrial complex III deficiency nuclear type 2 is an autosomal-recessive disorder caused by mutations in TTC19 gene. TTC19 is involved in the preservation of mitochondrial complex III, which is responsible for transfer of electrons from reduced coenzyme Q to cytochrome C and thus, contributes to the formation of electrochemical potential and subsequent ATP generation. Mutations in TTC19 have been found to be associated with a wide range of neurological and psychological manifestations. Herein, we report on a 15-year-old boy born from first-degree cousin parents, who initially presented with psychiatric symptoms. He subsequently developed progressive ataxia, spastic paraparesis with involvement of caudate bodies and lentiform nuclei with cerebellar atrophy. Eventually, the patient developed gastrointestinal involvement. Using whole-exome sequencing (WES), we identified a novel homozygous frameshift mutation in the TTC19 gene in the patient (NM_017775.3, c.581delG: p.Arg194Asnfs*16). Advanced genetic sequencing technologies developed in recent years have not only facilitated identification of novel disease genes, but also allowed revelations about novel phenotypes associated with mutations in the genes already linked with other clinical features. Our findings expanded the clinical features of TTC19 mutation to potentially include gastrointestinal involvement. Further functional studies are needed to elucidate the underlying pathophysiological mechanisms.
Vaginal Atrophy following Long-Term Depot Medroxyprogesterone Acetate Use: A Case Report
Authors: Christie Walker, Shawky Z A Badawy
Journal: Case Rep Obstet Gynecol (2013)

Depot medroxyprogesterone acetate (DMPA) is a commonly used form of contraception, with noncontraceptive benefits for the user. The mode of action is through the suppression of ovulation. It leads to hypoestrogenism which causes dryness of the vagina and dyspareunia. We present in this paper a patient that was very symptomatic with regard to vaginal atrophic changes determined by vaginal cytology. This side effect may become increasingly more common as we see more long-term use of DMPA.
Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Authors: Yu-Rong Lee, Yu-Chen Lin, Yi-Han Chang, Hsin-Yu Huang, Yi-Kai Hong, Wilson Jr F Aala, Wei-Ting Tu, Meng-Che Tsai, Yen-Yin Chou, Chao-Kai Hsu
Journal: Front Genet (2022)
Keywords: crebbp (crebb binding protein), genetic diagnosis, multiplex ligation-dependent probe amplification, next-generation sequencing, novel variant, rubinstein-taybi syndrome, whole-exome sequencing

Rubinstein-Taybi Syndrome (RSTS) is a rare congenital disease with distinctive facial features, broadening of the thumbs and halluces, and developmental delay. RSTS is caused by de novo genetic alterations in CREBBP and the homologous EP300 genes. In this study, we established a genetic diagnostic protocol by integrating multiplex ligation-dependent probe amplification (MLPA) and whole-exome sequencing (WES). Five patients clinically diagnosed with RSTS were enrolled for genetic testing. Germline DNA was extracted from the peripheral blood of the patients and their families. One patient (case 1) was identified as harboring a large heterozygous deletion in the 16p13.3 region, spanning the CREBBP gene. Three patients (Cases 2-4) harbored different CREBBP variants (c.2608C>T:p.Gln870Ter,c.4404_4405del:p.Thr1468fs,c.3649C>T:p.Gln1217Ter). No causative variants were identified for the fifth RSTS patient (case 5). Here, we propose a molecular diagnostic protocol that identified causative genetic alterations in 4/5 of the patients, yielding a molecular diagnostic rate of 80%. Given the rarity of RSTS, more research is needed to explore its pathogenesis and mechanism.
Mycobacterium senegalense Osteomyelitis of the Distal Tibia: A Case Report
Authors: Jeremiah Maupin, Austin Cantrell, Katherine Kupiec, Dante Paolo Melendez, Amgad M Haleem
Journal: J Bone Jt Infect (2019)
Keywords: ilizarov external fixator, mycobacterium senegalense, nontuberculous mycobacterium, osteomyelitis

Mycobacterium senegalense infection is rare. We present the third documented case of M. senegalense infection and the first to involve the musculoskeletal system. A 55-year old immunocompetent male developed chronic osteomyelitis of the ankle and required antibiotic spacers, an Ilizarov external fixator and multiple antibiotic regimens to eradicate the infection.
Primary fallopian tube carcinoma: a case report
Authors: Houssine Boufettal, Naïma Samouh
Journal: Pan Afr Med J (2014)
Keywords: adenocarcinoma, fallopian tube, chemotherapy, primitive, radiology, surgery
MeSH terms: Adenocarcinoma / diagnosis, Adenocarcinoma / therapy, Fallopian Tube Neoplasms / diagnosis, Fallopian Tube Neoplasms / therapy, Case Reports, Review, Adult, Female, Humans

Primary cancer of the fallopian tube is very rare and their preoperative diagnosis is difficult due to the lack of specific symptoms. We report a case in a patient aged 42 years, discovered after abdominopelvic mass. Total surgery was performed, followed by platinum-based chemotherapy. The authors report a review of the literature regarding the epidemiology, diagnosis, treatment and prognosis of this cancer.
Hernia uterine inguinale with transverse testicular ectopia and mixed germ cell tumor
Authors: Rajshekhar C Jaka, M Shankar
Journal: Indian J Urol (2007)
Keywords: hernia uterine inguinale, persistent mullerian duct syndrome, transverse testicular ectopia
MeSH terms: Case Reports

Persistent mullerian duct syndrome is a rare disorder characterized by the presence of uterus and fallopian tube in 46XY phenotypic males and is ascribed to defects in the synthesis or action of anti-mullerian hormone. We report a rare case of hernia uterine inguinale, transverse testicular ectopia associated with mixed germ cell tumor of the testis with metastasis. Transverse testicular ectopia should be suspected preoperatively in patients who have unilateral inguinal hernia associated with contralateral nonpalpable testis. In such cases ultrasonography should be done prior to repair of hernia to evaluate the possible presence of mullerian structures and testicular malignancy, for better management.
Nephrotic Syndrome as a Cause of Transient Clinical Hypothyroidism
Authors: Vânia Benido Silva, Maria Teresa Pereira, Carla Leal Moreira, Sílvia Santos Monteiro, Isabel Inácio, Maria Helena Cardoso
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Nephrotic syndrome may trigger the onset of hypothyroidism, promoting massive urinary protein losses including thyroxine (T4) and triiodothyronine (T3) along with their binding proteins. At an early stage, a clinical and biochemical euthyroid state is expected. However, in patients with prolonged and severe proteinuria, especially with concomitant low thyroid reserve, urinary losses of free and protein-bound thyroid hormones are sufficiently pronounced to induce a subclinical or overt hypothyroidism. Despite its high prevalence in clinical practice, the literature lacks case reports of newly diagnosed clinical hypothyroidism due to NS in adults, making this condition under-recognized. We report a case of a 23-year-old man with previous normal thyroid function who developed overt hypothyroidism due to a severe nephrotic syndrome, requiring supplementation with levothyroxine (LT). After the patient had undergone bilateral nephrectomy, treatment with LT was discontinued and thyroid function normalized.