OpenMed/multicare-articles huggingface dataset:
Gunshot wound without entrance hole: where is the trick? - a case report and review of the literaturer
Authors: Silvia Ministrini, Gianluca Baiocchi, Frida Pittiani, Daniele Lomiento, Federico Gheza, Nazario Portolani
Journal: World J Emerg Surg (2015)
Keywords: atypical inlet hole, diagnosis, gunshot, intestinal perforation, laparoscopy, laparotomy
MeSH terms: Review

The presence at CT scan of more retained bullets than expected could be a very difficult interpretation challenge in the early management of gunshot wounds. The modern non operative management of haemodinamically stable patients without peritonitis requires that the trajectory of the bullet is clearly recognized. This clinical case reporting of a gunshot wound without evident entry hole, allows to discuss the diagnostic and therapeutic implications in the management of gunshot wounds cases with atypical entry and/or exit holes.
Are we undertreating calcium deficiency in metabolic bone disease of prematurity? A case report and review
Authors: Sirisha Kusuma Boddu, Reena Lankala
Journal: Front Pediatr (2022)
Keywords: calcipenic rickets, calcitriol, metabolic bone disease (mbd) of prematurity, parathyroid hormone, vitamin [25(oh)d]
MeSH terms: Case Reports

Background:
Both calcium (Ca) and phosphorus (P) are needed to prevent and treat metabolic bone disease (MBDP). However, the predominant focus of many treating neonatologists lies in supplementing P and vitamin D. In this report, we describe a VLBW infant with severe MBDP due to inadequately treated calcium deficiency and discuss the need to recognize this entity.
Case details and management:
A 25-week, 700 gm baby boy had chronic lung disease and necrotizing enterocolitis. He received total parenteral nutrition, budesonide, furosemide, and caffeine. With high serum alkaline phosphatase (ALP: 1,700 IU/L) and low P (2.8 mg/dl), MBDP was diagnosed at 12 weeks, started on oral phosphate, human milk fortifier, and 1,400 IU/d of vitamin D before discharge. He was readmitted 2 weeks later with decreased lower limb mobility and respiratory distress. X-rays revealed severe osteopenia and fractures of both femurs. Serum P was 4.6 mg/dl but ALP was high (1,700 IU/L), and Ca was low (6.4 mg/dl). Parathyroid hormone (PTH: 605 pg/ml) and 25-hydroxy Vitamin D (25 OHD > 200 ng/ml) were very high. We discontinued his P and vitamin D, hypocalcemia treated with IV Ca gluconate, later oral Ca citrate, and calcitriol. Phosphate was added after normalization of Ca. Over the next many weeks, X-rays and biochemistry improved.
Discussion:
MBDP results from both Ca and P deficiencies, especially in VLBW infants with comorbidities. P supplementation without treating underlying calcipenia can precipitate hypocalcemia and worsen osteopenia with disastrous consequences. In severe calcipenia, active vitamin D might have a role in addition to an appropriate dose of elemental calcium.
Case report: High-dose epoprostenol therapy in pediatric patients with pulmonary hypertension and developmental lung disease
Authors: Yoshie Fukasawa, Hidenori Yamamoto, Miharu Ito, Akiko Saito, Kiyotaka Go, Yoshihito Morimoto, Kazushi Yasuda, Yoshiaki Sato, Masahiro Hayakawa, Taichi Kato
Journal: Front Pediatr (2023)
Keywords: alveolar capillary dysplasia with misalignment of pulmonary veins, bronchopulmonary dysplasia, congenital diaphragmatic hernia, developmental lung disease, epoprostenol, pulmonary hypertension
MeSH terms: Case Reports

Pulmonary hypertension (PH) with developmental lung disease is a life-threatening disease and accounts for 10%-12% of pediatric PH patients. Administration of specific pulmonary vasodilators to pediatric PH patients has brought about improvement of their long-term prognosis. Intravenous epoprostenol therapy is a gold standard therapy for severe idiopathic pulmonary arterial hypertension (IPAH), but there are few reports demonstrating the efficacy of epoprostenol for pediatric PH patients with developmental lung disease, especially when treating with high doses of epoprostenol. Two cases of pediatric PH patients with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) and congenital diaphragmatic hernia (CDH) with bronchopulmonary dysplasia (BPD), respectively, treated with epoprostenol above 100 ng/kg/min are presented. In these two cases, severe PH was improved significantly by an aggressive increase of the epoprostenol infusion rate with administration of oral pulmonary vasodilators and appropriate respiratory management, without any significant adverse effects. High-dose epoprostenol therapy may be one of the therapeutic options in pediatric PH patients with developmental lung disease.
Keep an Ear Out for Francisella tularensis: Otomastoiditis Cases after Canyoneering
Authors: Brice Guerpillon, Andre Boibieux, Clemence Guenne, Christine Ploton, Tristan Ferry, Max Maurin, Emmanuel Forestier, Olivier Dauwalder, Patrick Manipoud, Aicha Ltaïef-Boudrigua, Robert Gürkov, Francois Vandenesch, Coralie Bouchiat
Journal: Front Med (Lausanne) (2016)
Keywords: france, francisella tularensis, canyoneering, otitis media, otomastoiditis
MeSH terms: Case Reports

We report here three unusual cases of otomastoiditis due to Francisella tularensis, complicated by cervical abscesses and persistent hearing loss, plus facial paralysis for one patient. Intriguingly, the three patients had practiced canyoneering independently in the same French river, between 2009 and 2014, several days before clinical symptoms onset. The results point out that fresh water exposure may be a potential contamination route for tularemia. Besides, due to the frequent complications and sequelae, we believe that F. tularensis should be considered as a possible etiology in case of otitis media, failure of the conventional antibiotic treatment, and suspicious exposure of the bacteria.
Rehabilitation of Maxillary Defect Using Zygomatic Implant Retained Obturator
Authors: Mounika Ayinala, Gautam Shetty
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Tumors involving the hard palate, maxillary sinus, or nasal cavity require maxillectomy based on the extent of the lesion. Lack of these boundaries affects the speech, esthetics, and masticatory function. Prosthetic rehabilitation of these defects can be done utilizing zygomatic implants. This present case describes the use of a zygomatic implant to retain a maxillary obturator in a 22-year-old male patient following partial maxillectomy (Brown's Class 2b) due to odontogenic myxoma. A surgical obturator was secured in position subsequent to the implant placement. Following the healing period, an interim obturator using heat cure acrylic was fabricated. Mechanical retention for the definitive obturator was obtained through the ball attachment suspended from the multiunit abutment of the zygomatic implant. The case was followed up closely for a year to evaluate the function of the prosthesis. The prosthetic rehabilitation not only promoted esthetics and function but also improved the patient's quality of life.
Chronic periaortitis (retroperitoneal fibrosis) concurrent with recurrent cutaneous eosinophilic vasculitis
Authors: Despoina Kiorpelidou, Georgios Gaitanis, Aikaterini Zioga, Athina C Tsili, Ioannis D Bassukas
Journal: Case Rep Dermatol Med (2011)
MeSH terms: Case Reports

Chronic periaortitis (CP) is usually accompanied by at least mild manifestations of systemic autoimmunity; however, skin manifestations are rare. Here, we report an 82-year-old woman presenting with a pruritic annular eosinophilic dermatosis that led to the diagnosis of recurrent cutaneous eosinophilic vasculitis (RCEV) coexisting with a latent CP. The present paper is reminder that a CP should be included as a potential differential diagnosis in the elaboration of patients with cutaneous vasculitis that is suspicious of underlying autoimmunity.
Total Hip Arthroplasty for Bilateral Femoral Neck Stress Fracture: A Case Report and Review of the Literature
Authors: Kevin Moerenhout, Georgios Gkagkalis, G-Yves Laflamme, Dominique M Rouleau, Stéphane Leduc, Benoit Benoit
Journal: Adv Orthop (2019)
MeSH terms: Review

Femoral neck stress fractures (FNSFs) can be treated conservatively or surgically, depending on initial displacement and patient condition. Surgical treatment options include internal fixation, with or without valgus osteotomy or hip arthroplasty, either hemi or total. The latter is mainly considered when initial treatment fails. A review of the literature shows that total hip arthroplasty (THA) is only considered as primary treatment in displaced fractures (type 3) in low-demand patients. We present a case of successive bilateral FNSF in a young active patient, where a THA was performed on one side, after failed internal fixation, and where it was chosen as primary treatment on the other side after failed conservative treatment.
Extensive Macular Atrophy with Pseudodrusen Imaged with OCT Angiography
Authors: Jaclyn L Kovach
Journal: Case Rep Ophthalmol Med (2018)
MeSH terms: Case Reports

This report describes the first case of extensive macular atrophy with pseudodrusen (EMAP) imaged with optical coherence tomography angiography (OCTA). A 58-year-old Caucasian man presented with decreased central vision in both eyes. Fundus examination showed large areas of macular atrophy centered on the fovea surrounded by diffuse reticular pseudodrusen. Spectral domain OCT (SDOCT) revealed outer retinal and choriocapillaris atrophy. OCTA demonstrated marked absence of choriocapillaris flow. Extensive macular atrophy with pseudodrusen is a rare clinical entity and a new extreme phenotype of macular degenerations that could shed more light on the role of pseudodrusen and choriocapillaris compromise in the pathogenesis of AMD.
Gastro-colic Fistula due to Acid Ingestion
Authors: Atul Sachdev, Monica Gupta, Ashok Kumar Attri
Journal: Gastroenterology Res (2010)
Keywords: colon, corrosive, fistula, stomach
MeSH terms: Case Reports

Corrosive ingestion can cause serious damage to the upper gastrointestinal tract. The acute consequences could range from mild erythema to gangrene and perforation. Delayed consequences could be strictures of the oesophagus presenting as dysphagia or gastric, pyloric and antral stenosis presenting as gastric outlet obstruction. Gastro-colic fistula as a complication of acid ingestion is a rare clinical entity. We report this case of a patient who presented with complaints of dysphagia and recurrent vomiting of foul smelling brownish vomitus two months following suicidal acid (sulphuric acid) ingestion. The presence of a gastro-colic fistula was confirmed with a barium meal examination.
Long term NIV in an infant with Hallermann-Streiff syndrome: A case report and overview of respiratory morbidity
Authors: S Guerin, S Blanchon, Q de Halleux, V Bayon, T Ferry
Journal: Front Pediatr (2022)
Keywords: hallermann-streiff syndrome, niv (non-invasive ventilation), osas (obstructive sleep apnea syndrome), infant, success
MeSH terms: Case Reports

Hallermann-Streiff syndrome (HSS) is a rare congenital syndrome with different anomalies including midface hypoplasia, beak nose and micrognathia. The upper airways narrowness can lead to severe respiratory complications such as obstructive sleep apnoea syndrome (OSAS), particularly in infancy. The management of these severe OSAS is difficult and poorly documented in literature. We report the case of an infant with HSS complicated by severe and early OSAS successfully managed with non-invasive ventilation (NIV), provide an overview of respiratory morbidities and discuss treatment options for HSS-related OSAS.
Case Report: Anesthesia for Cesarean Section in Parturients With Chronic Renal Failure Requiring Hemodialysis: Case Reports and Literature Review
Authors: Ting Zhang, Xianwei Xiong, Yiling Jiang, Huan Chen, Juying Jin
Journal: Front Surg (2022)
Keywords: chronic renal failure, anesthesia, cesarean section, hemodialysis, uremia
MeSH terms: Case Reports

Pregnancies are rare in women with chronic renal failure requiring hemodialysis. Although a chance of successful pregnancy and delivery in hemodialysis women has increased over the years, it is still very low, and with high maternal and fetal mortality and morbidity rate compared to normal population. And cesarean section is usually used for delivery. The first case was a 32-year-old Chinese woman with chronic kidney disease stage V undergoing maintenance hemodialysis for six years. The second case was also a 32-year-old patient with a 6-year history of hemodialysis for chronic glomerulonephritis. And due to a history of atrial septal defect and hypertension she received intensive hemodialysis during pregnancy. Both cases were scheduled for cesarean delivery under epidural anesthesia. To help develop reasonable anesthetic methods and management objectives for such patients, we described our anesthetic management and performed a literature search on published cases of cesarean section with chronic renal failure undergoing hemodialysis.
Readministration of Cancer Drugs in a Patient with Chemorefractory Metastatic Colorectal Cancer
Authors: Tetsuro Kawagoe, Go Ikeda, Yu Oshiro, Yuta Maruki, Keiko Kaneko, Katsuhiko Iwakiri
Journal: Case Rep Oncol Med (2020)
MeSH terms: Case Reports

A 63-year-old woman was admitted to our institution for severe pain in her right lower abdomen caused by the perforation of cecal cancer. She underwent emergency surgery, from which she was diagnosed with cecal carcinoma with liver, lung, and lymph node metastases. As she was taking aspirin to prevent cerebral infarction, anti-vascular endothelial growth factor (receptor) antibody and regorafenib therapy were not used. Thus, we started a modified FOLFOX 6+cetuximab regimen. This first-line treatment initially achieved a partial response (PR), but she then developed progressive disease (PD) after 14 months. We changed the regimen to FOLFIRI, followed by trifluridine/tipiracil, but her progression-free survival periods were 2.7 months and 1 month, respectively. Although we cycled through the available array of standard cancer drugs, the patient showed a good performance status, and some benefit from treatment still seemed plausible. We readministered the 5-fluorouracil oral preparation S-1, which maintained stable disease (SD) for 7 months. After PD emerged, we readministered the anti-epidermal growth factor receptor (EGFR) antibody panitumumab for 7.5 months of SD. Finally, 39 months after her diagnosis, she died from rapidly progressing disease. However, her relatively long survival implies that readministering drugs similar to those used in previous regimens might benefit patients with metastatic colorectal cancer.
A combination of bortezomib and rituximab yields a dramatic response in a woman with highly refractory immune thrombocytopenic purpura: a case report
Authors: Namita Vinayek, Vivek Sharma
Journal: J Med Case Rep (2014)

Introduction:
Chronic refractory immune thrombocytopenic purpura can be a challenging condition to treat. By definition, the standard first and second line treatments have failed in these patients and modalities such as thrombopoiesis-stimulating agents and more intensive immunosuppressive drugs are therefore used. However, there still remains a subset of patients who continue to be refractory to treatment.
Case presentation:
We present the case of a 30-year-old Hispanic woman with recurrent intracranial bleeds, in whom multiple lines of treatment had failed. She was treated with a combination of bortezomib and rituximab based on previously published data that suggested this therapy effectively blocks all antibody-producing cells. Our patient's platelet counts rapidly improved and subsequently normalized following this treatment.
Conclusion:
To the best of our knowledge, this case represents the first report of the effective use of bortezomib and rituximab in highly refractory immune thrombocytopenic purpura. We believe further study of this therapy is warranted in this setting.
Primary resistance to first- and second-generation ALK inhibitors in a non-small cell lung cancer patient with coexisting ALK rearrangement and an ALK F1174L-cis-S1189C de novo mutation: A case report
Authors: Jiuzhou Zhao, Xiang Li, Ruizhe Fan, Yaping Qin, Zhizhong Wang, Bo Wang, Shaomei Li, Jianfeng Fan, Xinxin Wu, Hongxia Liu, Yuping Guan, Yinfeng Liang, Xiao Zhang, Yongjun Guo
Journal: Front Pharmacol (2022)
Keywords: eml4-alk, f1174l, s1189c, de novo mutation, next generation sequencing (ngs), non-small cell lung cancer (nsclc)
MeSH terms: Case Reports

The effectiveness of the tyrosine kinase inhibitor ALK (TKI) for non-small cell lung cancer has been confirmed. However, resistance to ALK-TKIs seems inevitable. Mutations in the ALK kinase domain have been reported as an important mechanism of acquired resistance to ALK therapy. However, patients with de novo ALK kinase domain mutations and ALK rearrangements who were not treated with ALK inhibitors have rarely been reported. Here, we report a case of primary drug resistance to first- and second-generation ALK inhibitors in a NSCLC patient with ALK-rearrangement. The next-generation sequencing test of the pathological biopsy showed that the de novo ALK kinase domain mutation F1174L-cis-S1189C may be the cause of primary drug resistance.
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1
Authors: Junyu Zhang, Hongbin Liu, Zhiyuan Liu, Yong Liao, Luo Guo, Honglian Wang, Lin He, Xiaodong Zhang, Qinghe Xing
Journal: PLoS One (2013)
MeSH terms: Alternative Splicing / genetics, Mutation, Polyendocrinopathies, Autoimmune / genetics, Transcription Factors / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Asian People / genetics, Base Sequence, Codon, Nonsense / genetics, Computational Biology, Exons / genetics, Female, Humans, Male, Pedigree, Polyendocrinopathies, Autoimmune / pathology, Polyendocrinopathies, Autoimmune / physiopathology, RNA, Messenger / genetics, RNA, Messenger / metabolism, Siblings, Young Adult, APECED protein, Codon, Nonsense, RNA, Messenger, Transcription Factors, Autoimmune polyendocrinopathy syndrome, type 1

Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Loss-of-function mutations of the autoimmune regulator (AIRE) gene have been linked to APS-1. Here we report mutational analysis and functional characterization of an AIRE mutation in a consanguineous Chinese family with APS-1. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. We identified a homozygous missense AIRE mutation c.463G>A (p.Gly155Ser) in two siblings with different clinical features of APS-1. In silico splice-site prediction and minigene analysis were carried out to study the potential pathological consequence. Minigene splicing analysis and subsequent cDNA sequencing revealed that the AIRE mutation potentially compromised the recognition of the splice donor of intron 3, causing alternative pre-mRNA splicing by intron 3 retention. Furthermore, the aberrant AIRE transcript was identified in a heterozygous carrier of the c.463G>A mutation. The aberrant intron 3-retaining transcript generated a truncated protein (p.G155fsX203) containing the first 154 AIRE amino acids and followed by 48 aberrant amino acids. Therefore, our study represents the first functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1.
Case report: Melanosis coli combined with colon cancer, causality or coincidence?
Authors: Wei Zhao, Jianan Chen, Hongbin Xing, Jun Yu, Qian Liu
Journal: Front Surg (2022)
Keywords: case report, colectomy, colonic neoplasms, colonic polyps, melanosis coli
MeSH terms: Case Reports

The habitual use of laxative containing anthraquinone glycosides is considered to be the main cause of melanosis coli (MC). In the past, most scholars considered MC to be a benign and reversible disease. However, new evidence has emerged that MC may increase the risk of colon cancer. Here, we report a case of a 48-year-old woman diagnosed with MC and colon cancer. Through a literature review of previous basic and clinical studies, we summarize existing evidence that reveals the possible association between MC and colon cancer. Although this case cannot establish causality between MC and colon cancer, a high level of clinical vigilance for occurrence of colon cancer in patients with MC should be maintained.
Near-complete response to low-dose ceritinib in recurrent infantile inflammatory myofibroblastic tumour
Authors: Abhenil Mittal, Aarushi Gupta, Sameer Rastogi, Adarsh Barwad, Swati Sharma
Journal: Ecancermedicalscience (2021)
Keywords: ceritinib, infant, inflammatory myofibroblastic tumour, low dose
MeSH terms: Case Reports

Background:
Infantile inflammatory myofibroblastic tumour (IMT) is rare and the majority are driven by anaplastic lymphoma kinase (ALK) rearrangements. Previous literature on the use of ALK inhibitors in paediatric IMTs is extremely limited with no published literature on the use in infants. Crizotinib and ceritinib are two ALK inhibitors which are available and have been used in IMTs; however, ceritinib is much more affordable in the low- and middle-income country (LMIC) setting than crizotinib.
Case:
An 11-month-old child, who had undergone surgery for mesenteric IMT at the age of 3 months, had an unresectable recurrence with soft tissue deposits in the subdiaphragmatic location abutting the spleen and paravesical location. As surgery would have entailed splenectomy and partial cystectomy, she was treated with low-dose ceritinib (300 mg/m2/day) with which she had a near-complete response without any toxicity.
Discussion and conclusion:
This is the first report of the use of ceritinib at a lower dose for infantile IMT having immense practical applications for the low- and middle-income setting.
Hip Arthroscopic Resection of an Intra-Articular Fibroma of the Tendon Sheath
Authors: Lucas Korcek, Benjamin Hoch, Dustin Richter
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Fibroma of the tendon sheath most often presents around small joints and involves the tendon and tendon sheaths of the fingers, hands, and wrist. In rare instances, it presents as an intra-articular mass. It has never been described in the hip joint. In the current case presentation, this benign tumor was found to be the source of a patient's atypical severe hip pain. Arthroscopic resection of this tumor alleviated the patient's pain.
Small Intestinal and Mesenteric Multiple Gastrointestinal Stromal Tumors Causing Occult Bleeding
Authors: Tolga Dinc, Selami Ilgaz Kayilioglu, Ahmet Erdogan, Erdinc Cetinkaya, Ozgur Akgul, Faruk Coskun
Journal: Case Rep Gastrointest Med (2016)

Gastrointestinal stromal tumors are the meseancymal neoplasms which may involve any part of gastrointestinal tract. C-Kit and platelet derived factor receptor alpha polypeptide are believed to be responsible for the genetic basis. This case presentation aimed to discuss the diagnostic and therapeutic modality of multiple small intestinal, omental, and mesenteric GISTs with different sizes which caused occult bleeding in a 43-year-old male patient.