OpenMed/multicare-articles huggingface dataset:
Nimesulide induced leukocytoclastic vasculitis and hepatitis: a case report
Authors: Prasanta Kumar Bhattacharya, Bhupen Barman, Aakash Roy, Md Jamil, Monaliza Lyngdoh, Jaya Mishra
Journal: Springerplus (2015)
Keywords: adverse drug reaction, hepatitis, leukocytoclastic vasculitis, nimesulide, pharmacovigilence

Background:
Nimesulide is a non-steroidal anti-inflammatory drug with antipyretic and analgesic properties, which is still used in many countries despite its known hepatotoxicity. Along with hepatotoxicity it has also been associated with several other Adverse Drug Reactions (ADRs) including leukocytoclastic vasculitis (LCV).
Case description:
A 38 year-old female presented with history of acute onset fever for which she took tablet nimesulide and paracetamol combination (100 mg Nimesulide + 500 mg paracetamol tablet), 1 tab three times daily for 4 days, following which she developed rash all over the body. She also had clinical and biochemical evidence of acute hepatitis. Histopathological examination of the skin rash documented the presence of LCV. She was managed symptomatically with anti-inflammatory and supportive therapy and was not further exposed to nimesulide.
Discussion and evaluation:
Our case demonstrates occurrence of acute hepatitis and LCV associated with nimesulide intake. The case meets the defining criteria for the diagnosis of LCV preceded by history of nimesulide intake. There was also clinical and biochemical evidence of hepato-cellular damage which supports the concurrent development of hepatitis along with the development of LCV following nimesulide use. To the best of our knowledge there is no previous published report of LCV and hepatitis occurring concurrently in the same patient following nimesulide intake. Nimesulide should be added to the list of agents associated with these serious adverse drug reactions.
Conclusions:
Nimesulide has been a contentious drug over many years. Under such evidence of serious ADRs the scientific community should consider ensuring strict pharmacovigilance with respect to its use especially in the developing countries where such monitoring systems are inadequate.
Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis
Authors: Shenghui Ge, Mengge Yang, Wenfeng Gong, Wenzhe Chen, Jianjun Dong, Lin Liao
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: hnf1b, mody5, case, diagnosis, mutation, renal cysts and diabetes syndrome
MeSH terms: Diabetes Mellitus, Type 2 / complications, Diabetes Mellitus, Type 2 / genetics, Diabetic Ketoacidosis / complications, Diabetic Ketoacidosis / genetics, Kidney Diseases, Cystic / complications, Kidney Diseases, Cystic / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Hepatocyte Nuclear Factor 1-beta / genetics, Humans, Mutation, Young Adult, HNF1B protein, human, Hepatocyte Nuclear Factor 1-beta, Mason-Type Diabetes

Background:
Maturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (HNF1B) gene.
Case presentation:
We reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In this case, the HNF1B score was estimated as 13 and a heterozygous variant of HNF1B in exon 4 (c.826C>T, p.Arg276*) was identified through Sanger sequencing.
Conclusions:
Multiple renal cysts and youth-onset diabetes are common manifestations in patients with HNF1B mutations, and insufficient insulin secretion may be a potential cause of diabetic ketosis in MODY5.
Massive accumulation of glycosaminoglycans in the aortic valve of a patient with Hunter syndrome during enzyme replacement therapy
Authors: Yohei Sato, Masako Fujiwara, Hiroshi Kobayashi, Hiroyuki Ida
Journal: Pediatr Cardiol (2013)
MeSH terms: Aortic Valve / chemistry, Aortic Valve Insufficiency / etiology, Enzyme Replacement Therapy / methods, Glycosaminoglycans / analysis, Mucopolysaccharidosis II / complications, Case Reports, Angiography, Aortic Valve / surgery, Aortic Valve / ultrastructure, Aortic Valve Insufficiency / metabolism, Aortic Valve Insufficiency / surgery, Cardiac Catheterization, Child, Preschool, Diagnosis, Differential, Heart Valve Prosthesis, Humans, Male, Microscopy, Electron, Mucopolysaccharidosis II / drug therapy, Glycosaminoglycans

This report describes the pathologic findings for a patient with Hunter syndrome who underwent aortic valve replacement at 10 years of age, 3 years after the initiation of enzyme replacement therapy. Aortic valve pathology showed mild thickening and fibrosis as well as massive glycosaminoglycan accumulation. This suggests that enzyme replacement therapy has limited efficacy for cardiac valve disease both clinically and pathologically.
Adult traumatic atlantoaxial rotatory fixation: a case report
Authors: Zaw Min Han, Nobuto Nagao, Toshihiko Sakakibara, Koji Akeda, Takao Matsubara, Akihiro Sudo, Yuichi Kasai
Journal: Case Rep Orthop (2014)

We presented a very rare case of adult Fielding type I atlantoaxial rotatory fixation (AARF). We performed awake manual reduction of the dislocation without need for anesthesia, achieving excellent outcomes, and no previous reports have described awake reduction without the need for anesthesia. AARF in this case was attributed to excessive extension and rotation forces applied to the cervical spine. For the management of adult Fielding type I AARF, early diagnosis and early reduction may lead to excellent outcomes.
Somatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma
Authors: Miriam Gutiérrez-Jimeno, Elena Panizo-Morgado, Ibon Tamayo, Mikel San Julián, Ana Catalán-Lambán, Marta M Alonso, Ana Patiño-García
Journal: NPJ Genom Med (2020)
Keywords: bone cancer, cancer genomics, molecular medicine
MeSH terms: Case Reports

Rothmund-Thomson syndrome (RTS) is characterized by a rash that begins in the first few months of life and eventually develops into poikiloderma. Associated symptoms are alterations in the teeth, sparse hair, thin eyebrows, lack of eyelashes, low stature, bone abnormalities, hematological illnesses, gastrointestinal disease, malnutrition, cataracts, and predisposition to cancer, principally to bone tumors and skin cancer. Diagnostic certitude is provided by a genetic study involving detection of pathogenic variants of the RECQL4 gene. We hereby present a familiar case of RTS in two siblings from a Portuguese family, both diagnosed with osteosarcoma. Genomic analysis (203 genes) of both tumors as well as germline analysis of the RECQL4 gene, thus confirming the syndrome in the family, have been performed. The relevance of clinical recognition of the hallmarks of the disease and thus early diagnosis with early intervention is highlighted.
Diffuse cutaneous metastases as the only sign of extranodal tumor spread in a patient with adenocarcinoma of the colon
Authors: Serenella Civitelli, Barbara Civitelli, Jacopo Martellucci, Gabriello Tanzini
Journal: ISRN Surg (2011)
MeSH terms: Case Reports

Cutaneous metastases from large bowel cancer are uncommon and are usually associated with organ involvement. Localization of lesions to the skin is mainly attributed to vascular and anatomical relationship, since most of them are seen in the abdominal wall or in a surgical scar. We report a 73-year-old woman in whom metastatic nodules from a poorly differentiated adenocarcinoma of the right colon developed throughout the skin (buttock, trunk, chest wall, arms, and neck) and remained the only sign of extranodal tumor spread until patient's death, seven months later. This unusual behaviour suggests that localization of neoplastic cells to the skin may be a site-specific process, determined by adhesion molecules and/or by growth factors found at that site.
Legius syndrome in fourteen families
Authors: Ellen Denayer, Magdalena Chmara, Hilde Brems, Anneke Maat Kievit, Yolande van Bever, Ans M W Van den Ouweland, Rick Van Minkelen, Arja de Goede-Bolder, Rianne Oostenbrink, Phillis Lakeman, Eline Beert, Takuma Ishizaki, Tomoaki Mori, Kathelijn Keymolen, Jenneke Van den Ende, Elisabeth Mangold, Sirkku Peltonen, Glen Brice, Julia Rankin, Karin Y Van Spaendonck-Zwarts, Akihiko Yoshimura, Eric Legius
Journal: Hum Mutat (2011)
MeSH terms: Cafe-au-Lait Spots / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Aged, Brain / pathology, Child, Child, Preschool, Female, HEK293 Cells, Humans, Infant, Intracellular Signaling Peptides and Proteins / genetics, Intracellular Signaling Peptides and Proteins / metabolism, Magnetic Resonance Imaging, Male, Membrane Proteins / genetics, Membrane Proteins / metabolism, Middle Aged, Mutation, Noonan Syndrome / diagnosis, Noonan Syndrome / genetics, Pedigree, Phenotype, Young Adult, Adaptor Proteins, Signal Transducing, Intracellular Signaling Peptides and Proteins, Membrane Proteins, SPRED1 protein, human, Legius syndrome

Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties. It is caused by germline loss-of-function SPRED1 mutations and is a member of the RAS-MAPK pathway syndromes. Most mutations result in a truncated protein and only a few inactivating missense mutations have been reported. Since only a limited number of patients has been reported up until now, the full clinical and mutational spectrum is still unknown. We report mutation data and clinical details in fourteen new families with Legius syndrome. Six novel germline mutations are described. The Trp31Cys mutation is a new pathogenic SPRED1 missense mutation. Clinical details in the 14 families confirmed the absence of neurofibromas, and Lisch nodules, and the absence of a high prevalence of central nervous system tumors. We report white matter T2 hyperintensities on brain MRI scans in 2 patients and a potential association between postaxial polydactyly and Legius syndrome.
Motor neuronopathy with dropped hands and downbeat nystagmus: a distinctive disorder? A case report
Authors: Nimish J Thakore, Erik P Pioro, Janet C Rucker, R John Leigh
Journal: BMC Neurol (2006)
MeSH terms: Motor Neuron Disease / physiopathology, Nystagmus, Pathologic / physiopathology, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Anterior Horn Cells / pathology, Disease Progression, Electrodiagnosis / methods, Female, Humans, Male, Middle Aged, Motor Neuron Disease / complications, Nystagmus, Pathologic / complications, Oculomotor Nerve Diseases / pathology

Background:
Eye movements are clinically normal in most patients with motor neuron disorders until late in the disease course. Rare patients are reported to show slow vertical saccades, impaired smooth pursuit, and gaze-evoked nystagmus. We report clinical and oculomotor findings in three patients with motor neuronopathy and downbeat nystagmus, a classic sign of vestibulocerebellar disease.
Case presentation:
All patients had clinical and electrodiagnostic features of anterior horn cell disease. Involvement of finger and wrist extensors predominated, causing finger and wrist drop. Bulbar or respiratory dysfunction did not occur. All three had clinically evident downbeat nystagmus worse on lateral and downgaze, confirmed on eye movement recordings using the magnetic search coil technique in two patients. Additional oculomotor findings included alternating skew deviation and intermittent horizontal saccadic oscillations, in one patient each. One patient had mild cerebellar atrophy, while the other two had no cerebellar or brainstem abnormality on neuroimaging. The disorder is slowly progressive, with survival up to 30 years from the time of onset.
Conclusion:
The combination of motor neuronopathy, characterized by early and prominent wrist and finger extensor weakness, and downbeat nystagmus with or without other cerebellar eye movement abnormalities may represent a novel motor neuron syndrome.
Endoscopic Treatment of Stump Leakage Related to the Ileal Conduit
Authors: Bulent Odemis, Erkin Oztas, Muhammet Yener Akpinar, Erkan Olcucuoglu, Ertugrul Kayacetin
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

Background:
Ileal conduit with leakage from either the anastomotic site or the stump is associated with high morbidity and mortality rates. The standard treatment of stump leakage is surgery.
Case presentation:
A 60-year-old male patient was admitted to our hospital with complaint of hematuria and bladder carcinoma was diagnosed. After performing radical cystectomy and ileal conduit, he developed fever with abdominal pain within the first week of surgery. Stump leakage was diagnosed by endoscopic examination performed through a gastroscope. After two over-the-scope clips (OTSCs) were applied to the stump, vinyl mesh was inserted into the space between the OTSCs. Later, cyanoacrylat and lipiodol were repelled on the OTSCs and vinyl mesh. Subsequently, stump leakage was resolved.
Conclusion:
This is the first case of stump leakage related to ileal conduit that has been treated endoscopically, according to the current literature.
Cognitive adaptation training provided to chronically hospitalized patients with schizophrenia in the Netherlands: two case reports
Authors: Piotr J Quee, Harald Schneider, Saskia van Slogteren, Durk Wiersma, Richard Bruggeman, Dawn I Velligan
Journal: Case Rep Psychiatry (2012)

Cognitive adaptation training (CAT) improves functional outcome in outpatients with schizophrenia living in the United States of America. The efficacy of CAT has never been demonstrated for patients living in a residential facility. We describe how CAT was delivered to two chronically hospitalized patients with schizophrenia living in The Netherlands. CAT was delivered for 8 months, and consisted of weekly home visits by a psychiatric nurse. Both patients improved on measures of functional outcome used in the US studies. These results indicate that CAT may improve outcomes, even in patients that have been hospitalized for several years.
Idiopathic bilateral adrenal hemorrhage in a 63-year-old male: a case report and review of the literature
Authors: Naveen Dhawan, Vijay Kumar Bodukam, Kshitij Thakur, Amandeep Singh, Donald Jenkins, Jaya Bahl
Journal: Case Rep Urol (2015)

Adrenal hemorrhage is a largely uncommon condition typically caused by a number of factors including infection, MI, CHF, anticoagulants, trauma, surgery, and antiphospholipid syndrome. Yet, idiopathic bilateral hemorrhage is rare. The authors present a case of a 63-year-old male who presented with abdominal pain that was eventually diagnosed as bilateral adrenal hemorrhages due to an unknown origin. Abdominal CT revealed normal adrenal glands without enlargement, but an MRI displayed enlargement due to hemorrhage in both adrenals. There was no known cause; the patient had not suffered from an acute infection and was not on anticoagulants, and the patient's history did not reveal any of the other known causative factors. The case underscores the importance of keeping bilateral adrenal hemorrhages on the list of differentials even when a cause is not immediately clear. It also raises the question of whether CT is the most sensitive test in the diagnosis of adrenal hemorrhage and whether the diagnostic approach should place greater weight on MRI. The case highlights the need for prompt therapy with steroids once bilateral hemorrhage is suspected to avert the development or progression of adrenal insufficiency.
A mixed methods analysis of factors affecting antenatal care content: A Syrian case study
Authors: Rima Mourtada, Christian Bottomley, Fiona Houben, Hyam Bashour, Oona M R Campbell
Journal: PLoS One (2019)
MeSH terms: Prenatal Care / methods, Quality of Health Care, Research Support, Non-U.S. Gov't, Adolescent, Adult, Armed Conflicts, Female, Health Facilities, Health Surveys, Humans, Infant, Newborn, Interviews as Topic, Middle Aged, Pregnancy, Qualitative Research, Socioeconomic Factors, Syria, Young Adult

Background:
Maternity care services provide critical interventions aimed at improving maternal and newborn health. In this study, we examined determinants of antenatal care (ANC) content in Syria, together with changes over time.
Methods:
We analysed two national surveys conducted by the Central Bureau of Statistics in Damascus (PAPFAM 2001 and MICS 2006). Findings of this initial analysis led to a qualitative study on adequacy of antenatal care content in two Syrian governorates, Aleppo and Latakia in 2010, which in turn informed further quantitative analysis. The perspectives and practices of doctors, women, midwives and health officials were explored using in-depth interviews. A framework approach was used to analyse the data.
Results:
The quantitative analysis demonstrated that women's education level, the type of health facility they attended and whether they had experienced health complications were important determinants of adequacy of ANC content received. The qualitative study revealed that additional factors related to supply side and demand side factors (e.g. organization of health services, doctors' selective prescription of ANC tests and women's selective uptake of those tests), influenced the quality of ANC and explained some regional differences between Aleppo and Latakia.
Conclusions:
The percentage of women who received adequate ANC content was probably higher in Latakia than in Aleppo because women in Latakia were more educated, and because services were more available, accessible, and acceptable to them.
Non-resectable pulmonary alveolar echinococcosis with multi-stage vertebral location
Authors: N Belloumi, C Habouria, S Fidha, I Bachouch, F Chermiti Ben Abdallah, S Fenniche
Journal: Respir Med Case Rep (2023)
Keywords: albendazole, hydatidosis, recurrence, spine, surgical treatment
MeSH terms: Case Reports

Alveolar echinococcosis (also known as Hydatid cyst or Hydatydosis) is a zoonosis with a high degree of disability and morbidity. Bone echinococcosis is a rare presentation. Authors are always defending a personalized approach taking account of the particularities of the cyst location. Recognition of this syndrome is crucial because advances in medical and surgical management strategies have controlled and relieved symptoms in numerous cases. We report, hereby, a case of a patient with a thoracic spine alveolar echinococcosis of an unusual extension. We discussed the outcome of the treatment after fifteen years of follow-up.
Low-grade central osteosarcoma of the rib: a case report and brief review of the literature
Authors: Mana Moghadamfalahi, Houda Alatassi
Journal: Case Rep Pathol (2013)

Low-grade central osteosarcoma is a rare variant of osteosarcoma which comprises less than 1-2% of all osteosarcomas. Most low-grade osteosarcomas involve long bones, most commonly distal femur, and proximal tibia. Histologically this tumor is difficult to diagnose, and an unusual location makes this diagnosis even more challenging. Here we report a case of low-grade osteosarcoma presenting as a chest wall mass involving the left 6th-8th ribs. This unusual site of presentation significantly added to the diagnostic difficulties of this rare tumor with challenging histologic features. To the best of our knowledge, only six cases of low-grade central osteosarcoma of the ribs have been reported in the English literature.
Esophageal Intramural Haematoma related Dysphagia: A rare complication after thrombolysis
Authors: Samman Verma, Prashant Gupta, Amitava Dutta, Pankaj Gupta, Vishal Sharma
Journal: J Cardiovasc Thorac Res (2022)
Keywords: anticoagulant, dysphagia, hematemesis, myocardial infarction, streptokinase, thrombolysis
MeSH terms: Case Reports

Esophageal Intramural Haematoma (EIH) is a rare entity usually caused by repeated emesis or trauma. It is diagnosed on the basis of upper gastrointestinal endoscopy and radiology. Treatment is conservative unless hemodynamic instability prevails. Use of anticoagulation or thrombolytic therapy is believed to be a risk factor rather than a causative etiology. However, a review of literature shows only few cases occurring post-thrombolysis. We report about a patient of myocardial infarction who was thrombolyzed with streptokinase. He developed hematemesis and dysphagia a few hours after thrombolysis despite ECG resolution of his ST elevation. He was diagnosed to have EIH on basis of endoscopic and computed tomographic findings. His symptoms improved within two weeks, and a repeat UGIE showed resolution of the hematoma.
Unexplained anemia: A case report of metachronous adenocarcinoma arising in the transverse colon following right hemicolectomy for a primary cecal carcinoma
Authors: Asim Malik, -Ur-Rahman Asad, Syed Muhammad Hammad Ali
Journal: Qatar Med J (2021)
Keywords: metachronous, adenocarcinoma, anemia, colorectal, gastrointestinal (gi) bleeding, hemicolectomy
MeSH terms: Case Reports

Metachronous colonic carcinomas arise from months to years after the resection of the first or index primary colorectal cancer. They are not a result of tumor recurrence or metastasis and likely arise as a result of the field cancerization effect. This report presents the case of a 63-year-old male patient without family history of a colorectal cancer but had an index primary adenocarcinoma of the cecum (stage IIIC) five years ago that was treated with surgical resection and adjuvant radiotherapy and chemotherapy. He presented with fatigue and anemia of 6-month duration secondary to recurrent melena, and the specific cause of which remained obscure despite intensive diagnostic workup. Recurrence of a malignancy at the previous anastomosis site was ruled out. The patient continued to have recurrent and intermittent gastrointestinal bleeding until a nuclear red blood cell scan detected a bleeding spot in the epigastric region, which actually turned out to be a second primary carcinoma (stage I) arising from an adenoma in the transverse colon. The patient underwent a left colectomy with ileosigmoid anastomosis formation. During a two-month postoperative follow-up, the patient did not experience any episode of melena or anemia. Even though metachronous colon cancers rarely present with a recurrent and intermittent gastrointestinal bleeding with melena, an aggressive workup must be aimed at ruling out a second independent malignancy in patients who are in remission after an index primary colorectal cancer resection through hemicolectomy. Any neoteric lesion found on colonoscopy in such cases should be dealt with a higher degree of suspicion. Therefore, the need for surveillance colonoscopy as recommended by the National Comprehensive Cancer Network guidelines is imperative and should be practiced in resource-limited countries.
Medial Branch Radiofrequency Treatment for Low-Back Pain in Cancer Patients: A Case Series
Authors: Ye Sull Kim, Taehoon Kim, Youngkwan Lee, Yu Jin Oh, Jeongmin Oh, A Ram Doo
Journal: Palliat Med Rep (2022)
Keywords: cancer, low-back pain, palliative care, radiofrequency, refractory pain
MeSH terms: Case Reports

Cancer patients are increasing in number, with an increased lifespan and advances in cancer treatment. Palliative care physicians often encounter difficulties in caring for patients with pain. In addition to cancer-related pain, patients with cancer may suffer from various musculoskeletal diseases, resulting in significant functional limitations of physical activities of daily living. We present three cases illustrating methods to deal with nonspecific mechanical low-back pain in patients with advanced cancer. We provide our therapeutic experiences, focusing on the usefulness of radiofrequency treatment in palliative care in patients with cancer.