OpenMed/multicare-articles huggingface dataset:
Congenital High Airway Obstruction Syndrome (CHAOS): No Intervention, No Survival-A Case Report and Literature Review
Authors: Ammar Ashraf, Ahmed Mohamed Abdelrahman, Ahmed Senna, Fatimah Alsaad
Journal: Case Rep Radiol (2020)
MeSH terms: Case Reports

Congenital high airway obstruction syndrome (CHAOS) is complete or partial obstruction of the fetal upper airway. CHAOS is a rare and fatal condition if no perinatal intervention is done. Antenatal sonographic imaging has typical findings that can help in an early diagnosis, which is important in deciding elective termination of the pregnancy or successful planning of appropriate perinatal management.
Spontaneous Diaphragmatic Rupture after Coughing: Report of a Case and Review of the Literature
Authors: Hartwig Fenner, Elza Memeti, Stephanie Taha, Jürgen Fornaro, Andreas Scheiwiller, Jürg Metzger, Markus Gass
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Spontaneous diaphragmatic rupture (SDR) is a very rare surgical emergency. A possible explanation for SDR might be a sudden increase of intra-abdominal pressure due to intense coughing, physical exercise, vomiting, or delivery. A 66-year-old male patient presented with recurrent coughing, dyspnoea, and intermittent fever. Although initial CT scan was inconspicuous, a follow-up CT scan revealed SDR of the left hemidiaphragm with herniation of the left colonic flexure, stomach, and parts of the greater omentum. Emergency laparotomy confirmed SDR. The ruptured anterior-lateral part of the diaphragm was closed, and additionally, a composite mesh was applied to reinforce the suture line. A right-sided hemicolectomy with primary anastomosis had to be performed. SDR is a rarity and can cause exceptional clinical features that may lead to inaccurate diagnosis and therapeutic delay. Therefore, of paramount importance, medical practitioners need to be aware of this important differential diagnosis for spontaneous dyspnoea or tachypnea.
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family
Authors: Duo Yang, Haiyan Zhou, Jiwu Lin, Shuangxi Zhao, Hao Zhou, Zhaochu Yin, Bin Ni, Yong Chen, Wanqin Xie
Journal: Front Genet (2021)
Keywords: gtpase-activating protein, rap gtpase, rapgap, sipa1l3, cataract
MeSH terms: Case Reports

The signal-induced proliferation-associated 1-like 3 (SIPA1L3) gene that encodes a putative Rap GTPase-activating protein (RapGAP) has been associated with congenital cataract and eye development abnormalities. However, our current understanding of the mutation spectrum of SIPA1L3 associated with eye defects is limited. By using whole-exome sequencing plus Sanger sequencing validation, we identified a novel heterozygous c.1871A > G (p.Lys624Arg) variation within the predicted RapGAP domain of SIPA1L3 in the proband with isolated juvenile-onset cataracts from a three-generation Chinese family. In this family, the proband's father and grandmother were also heterozygous for the c.1871A > G variation and affected by cataracts varying in morphology, severity, and age of onset. Sequence alignment shows that the Lys 624 residue of SIPA1L3 is conserved across the species. Based on the resolved structure of Rap1-Rap1GAP complex, homology modeling implies that the Lys 624 residue is structurally homologous to the Lys 194 of Rap1GAP, a highly conserved lysine residue that is involved in the interface between Rap1 and Rap1GAP and critical for the affinity to Rap·GTP. We reasoned that arginine substitution of lysine 624 might have an impact on the SIPA1L3-Rap·GTP interaction, thereby affecting the regulatory function of SIPA1L3 on Rap signaling. Collectively, our finding expands the mutation spectrum of SIPA1L3 and provides new clues to the molecular mechanisms of SIPA1L3-related cataracts. Further investigations are warranted to validate the functional alteration of the p.Lys624Arg variant of SIPA1L3.
Positive changes to written language following phonological treatment in logopenic variant primary progressive aphasia: Case report
Authors: Katlyn Nickels, Pélagie M Beeson, Kindle Rising, Fatima Jebahi, Aneta Kielar
Journal: Front Hum Neurosci (2023)
Keywords: case report, logopenic variant primary progressive aphasia, phonological treatment, tdcs, written language
MeSH terms: Case Reports

Phonological impairment contributes to deficits in repetition and spoken naming in logopenic variant Primary Progressive Aphasia (lvPPA), but weakened phonology can also affect written language skills. In this experimental case report, we demonstrate phonological text agraphia in a 71-year-old woman in the early stages of lvPPA that undermined her ability to write meaningful, grammatical sentences. We investigated the therapeutic value of a rigorous treatment protocol to strengthen phonological manipulation skills coupled with transcranial direct current stimulation (tDCS). Intervention took place 5 days a week for 2 weeks with active tDCS, followed by a 2-month rest period, and then a second period of phonological treatment with sham tDCS. Over the course of treatment, our participant demonstrated improved phonological transcoding and manipulation skills as well as marked improvement in the proportion of grammatically well-formed, meaningful written narratives. Improvements in spelling and letter selection were also observed. Treatment gains were documented during phonological intervention in both active tDCS and sham treatment phases and were maintained 2 months after the conclusion of intervention. Importantly, improvements were observed in the context of a progressive disorder. These data present compelling evidence regarding the impairment-based approach that targets compromised phonological skills, presenting opportunity for improving functional written communication skills relevant to the everyday lives of individuals with lvPPA.
Diffuse supravalvular aortic stenosis: surgical repair in adulthood
Authors: Giovanni Ferlan, Claudio De Pasquale, Concetta Losito, Annalisa Fiorella, Nicola Marraudino, Francesco Tunzi
Journal: Cardiol Res Pract (2009)
MeSH terms: Case Reports

We present the case of a 54-year-old woman in which a diffuse congenital supravalvular aortic stenosis (SVAS) was associated with a severe aortic valve incompetence and heavy calcification of the aortic annulus. Repair consisted in resection of the ascending aorta, patch augmentation of the hypoplastic aortic root and annulus, placement of a 20 mm Dacron tubular graft (Vascutek, Renfrewshire, UK) and aortic valve replacement with a mechanical prosthesis (Sorin, Turin, Italy). Follow-up echocardiography demonstrated normal prosthetic valve function and a postoperative three-dimensional computed tomographic scan showed a normal shape of the reconstructed ascending aorta.
Case reports: Central nervous system involvement in patients with newly diagnosed multiple myeloma
Authors: Jinghua Liu, Jing Shen, Daihong Liu
Journal: Front Neurol (2023)
Keywords: autologous hematopoietic stem cell transplantation, case report, central nervous system, chemotherapy, multiple myeloma (mm)
MeSH terms: Case Reports

Multiple myeloma with central nervous system involvement (CNS-MM) is rare, having a poor outcome and occurring in newly diagnosed or relapsed/refractory patients. The current report concerns 3 cases of newly diagnosed MM patients who presented with skull-derived plasmacytomas. Case 1 was a 54-year-old female patient with immunoglobulin D (IgD) subtype who developed extramedullary lesions from the sphenoid and occipital bones and the sphenoid sinus. Cases 2 and 3 had IgA subtype with left or bilateral frontal area lesions. Case 1 was treated with bortezomib, cyclophosphamide and dexamethasone (VCD) as the initial chemotherapy regimen and with bortezomib, lenalidomide, pegylated liposomal doxorubicin and dexamethasone (DVD-R) as the second line regimen. Whole-brain irradiation and intrathecal injection were given but the patient died within 9 months due to disease progression. Case 2 was treated with bortezomib, lenalidomide and dexamethasone (VRD) and received autologous hematopoietic stem cell transplantation (auto-HSCT) with a conditioning regimen of cyclophosphamide, etoposide and melphalan (CEM). Case 3 received DVD-R initially and auto-HSCT with a conditioning regimen of busulfan, cyclophosphamide, and etoposide (BuCyE). Cases 2 and 3 survived until the last follow-up more than 3 years later. Auto-HSCT with modified conditioning regimen as consolidation therapy improved the prognosis of CNS-MM.
The operative challenges of advanced renal cell carcinoma with vena cava involvement: a report of three cases
Authors: Muftau Jimoh Bioku, Abdulwaid Niran Saliu, Stephen Odunayo Ikuerowo, Olufunmilade Omisanjo, Julius Olusanmi Esho
Journal: Case Rep Urol (2011)
MeSH terms: Case Reports

Surgical resection remains an important component in the care of advanced renal cell carcinoma (RCC). Some of the patients so managed had relief of symptoms and improved quality of life. However, palliative nephrectomies in late cases with vena cava involvement are not without challenges. An important factor to be considered for successful surgery is adequate vena cava management. We report in this paper three patients who had metastatic RCC. For over three decades now, researchers in Lagos had recorded the abysmal prognosis of advanced cases of RCC. Yet, late presentation and diagnosis still persisted in our environment. There is therefore the need to repackage our strategies aimed at early detection of this pathology and thus improved postoperative outcome.
Impact of musculoskeletal symptoms on physical functioning and quality of life among treated people with HIV in high and low resource settings: A case study of the UK and Zambia
Authors: Nikolien S Van de Ven, Owen Ngalamika, Kevin Martin, Kevin A Davies, Jaime H Vera
Journal: PLoS One (2019)
MeSH terms: Anti-Retroviral Agents / administration & dosage, Musculoskeletal Pain / drug therapy, Musculoskeletal Pain / epidemiology, Musculoskeletal Pain / physiopathology, Quality of Life, Surveys and Questionnaires, Clinical Trial, Multicenter Study, Research Support, Non-U.S. Gov't, Adult, Comorbidity, Cross-Sectional Studies, Female, HIV Infections / drug therapy, HIV Infections / epidemiology, HIV Infections / physiopathology, Humans, Male, Middle Aged, Prevalence, United Kingdom / epidemiology, Zambia / epidemiology, Anti-Retroviral Agents

Background:
Musculoskeletal symptoms in people living with HIV (PLWH) such as pain, joint stiffness, and fatigue are commonly reported. Prevalence rates of up to 45%, 79% and 88% respectively have been reported. However, very little is known about differences in prevalence and impact of musculoskeletal symptoms on physical functioning and quality of life of PLWH on effective combined antiretroviral treatment (cART) in high and low-resource settings.
Methods:
A cross-sectional study of PLWH on effective cART enrolled from two large urban clinics in the UK and Zambia was conducted in 2016. Eligible participants had no history of trauma to the joints within 4 weeks of recruitment, or documented evidence of previous rheumatic disease. Current musculoskeletal symptoms, functional ability, and health-related quality of life were evaluated using the health assessment (HAQ) and quality-of-life short form (SF-36) self-reported questionnaires.
Results:
214 patients were enrolled (108:UK and 106:Zambia). Participants from Zambia were younger (47 vs 44 years) and had significantly lower CD4 counts (640 vs 439 cells/mL p = 0.018) compared to those from the UK, while the UK group had lived with HIV longer (11 vs 6 years; p<0.001) and reported more comorbidities than the Zambian group (66% vs 26%; p<0.001). Musculoskeletal pain was common in both groups (UK:69% vs Zambia:61% p = 0.263) but no significant differences in physical functional capacity between the groups were observed. However, the UK group had significantly worse quality of life measurements (general health, vitality, mental health, emotional, and social functioning) associated with musculoskeletal symptoms compared to the Zambian group (p<0.001).
Conclusions:
Musculoskeletal symptoms in PLWH from both the UK and Zambia were common. PLWH in the UK reported worse quality of life measures associated with musculoskeletal symptoms compared to those in Zambia, suggesting that factors such as mental health, patient expectations and multimorbidity might play a role in determining well-being and quality of life of PLWH with musculoskeletal symptoms.
A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita
Authors: Xiu-Fang Yang, Shang-Wen Shi, Yun Ye, Kang Chen
Journal: Front Pediatr (2022)
Keywords: itgb4 gene, aplasia cutis congenita, case report, neonates, preimplantation genetic testing for monogenic disorders (pgt-m)
MeSH terms: Case Reports

Background:
Aplasia cutis congenita (ACC), also called congenital cutaneous hypoplasia, is a serious disease in newborns. Children with ACC often die due to wound infections and bleeding. How the incidence of ACC can be reduced is a question that needs to be solved urgently.
Case report:
We reported a mother who had delivered two children with ACC, both of whom were diagnosed with ACC type VI, skin defects, limb deformities, and congenital heart malformations. One infant died a few days after birth, and another died in utero in the second trimester. Genetic testing in both children showed a heterozygous mutation in the ITGB4 gene [17q25 exon 8, c. 794 dupC, (p. Ala266fs) and exon 15, c. 1860G > A]. The mother later successfully gave birth to a healthy baby using Preimplantation Genetic Testing for Monogenic disorders(PGD-M).
Conclusion:
The PGD-M technique is highly valuable in reducing the incidence of ACC and improving the prognoses of newborns.
Sinonasal adenoid cystic carcinoma-role of on-site FNAC: a case report
Authors: Santosh Tummidi, Kanchan Kothari, Roshni Patil, Shruti S Singhal, Vyoma Shah
Journal: BMC Ear Nose Throat Disord (2018)
Keywords: adenoid cystic carcinoma, c-kit, fine needle aspiration, sinonasal, toluidine blue
MeSH terms: Case Reports

Background:
Adenoid cystic carcinoma (ACC), a rare tumor of epithelial cell origin, commonly arises from the major salivary glands. Uncommonly it may be found outside the salivary glands and it's especially rare in the nasal cavity.
Case presentation:
A 71-year female had complaints of swelling at the base of nose, Fine needle aspiration (FNA) from the swelling revealed features of adenoid cystic carcinoma; cell block & IHC for CD-117 was positive.
Conclusions:
Sino-nasal ACC (SNACC) continues to pose diagnostic and therapeutic challenges to clinicians. Due to its rarity & vague presentation, early diagnosis requires a high index of suspicion. FNA can be used as an invaluable diagnostic tool in the evaluation of these lesions. Since it's incidence in sinonasal region is rare; our attempt to report this case will heighten the physician's awareness of this disease, helping further treatment.
Case Report: Recurrence of Positive SARS-CoV-2 Results in Patients Recovered From COVID-19
Authors: Ren-Zi Zhang, Wang Deng, Jing He, Yu-Yan Song, Chun-Fang Qian, Qian Yu, Dao-Xin Wang
Journal: Front Med (Lausanne) (2020)
Keywords: igg, igm, coronavirus disease 2019, nucleic acid detection, severe acute respiratory syndrome coronavirus 2
MeSH terms: Case Reports

Background: Coronavirus disease 2019 (COVID-19) is spreading throughout the world. Limited data are available for recurrence of positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) results in patients with long duration of COVID-19. Methods: We reported four cases recovered from COVID-19 with recurrence of positive SARS-CoV-2 results during the long-term follow-up. Results: The four patients recovered from COVID-19 showed recurrence of positive SARS-CoV-2 results for more than 120 days with no symptoms and normal chest CT scan. Conclusions: The dynamic surveillance of SARS-CoV-2 by nucleic acid detection and serological assays is important for asymptomatic patients who might be potentially infectious.
Febrile sepsis: first report of human disease due to Paenibacillus silvae
Authors: Ilaria Dalla Vecchia, Daniele Fasan, Manuela Pegoraro, Paolo Benedetti
Journal: Access Microbiol (2023)
Keywords: paenibacillus silvae, febrile sepsis
MeSH terms: Case Reports

Introduction:

Paenibacillus species are saprophytes widely distributed in nature and rarely associated with overt human infection. Most cases have been described in people with important comorbidities and/or immunodepression. We report here what is, to the best of our knowledge, the first documented case of human disease due to Paenibacillus silvae , so far considered an exclusively environmental micro-organism.
Case presentation:
A 57-year-old female patient was referred to our Unit after a 2 month history of remittent fever. Upon admission, a septic state and bacteraemia were revealed; P. sylvae was identified by 16S rRNA gene amplification and sequencing with matrix-assisted laser desorption/ionization-time of flight MS. The patient became afebrile after 9 days of antibiotic treatment and was completely cured after a 2 week regimen with intravenous amoxicillin-clavulanate plus oral doxycycline.
Conclusion:
The patient did not report any previous episode of infection. Most of the well-known risk factors to Paenibacillus bacteraemia, i.e. invasive procedures, use of intravenous drugs and foreign bodies, could be excluded, although her immune system was probably impaired due to obesity and heavy smoking. We suggest that the isolation of bacteria belonging to the genus Paenibacillus should not be disregarded, since there is accumulating evidence that these organisms may cause disease even in immunocompetent subjects.
Sudden Gross Visual Deterioration: Importance of Examining the Whole Eye
Authors: Naeem Iqbal, Samantha R De Silva, Susan M Downes
Journal: Cureus (2023)
Keywords: acute visual loss, diabetic retinopathy, lens dislocation, low vision, medical education
MeSH terms: Case Reports

A 75-year-old caucasian female presented with sudden severe visual deterioration in one eye reduced from 6/9 to counting fingers (CF), with second eye reduction in vision from 6/9 to CF three months later. Past medical history included a background of proliferative diabetic retinopathy, uncontrolled blood pressure, and a 44-year history of poorly controlled type 1 diabetes mellitus (T1DM). Previous ocular history included bilateral pan-retinal photocoagulation for proliferative diabetic retinopathy, followed by bilateral vitrectomies, with subsequent bilateral cataract surgery with intraocular lens implants. A diagnosis of anterior ischemic optic neuropathy (AION) was thought to be the most likely diagnosis due to sudden visual loss, pale discs, and previous long-term history of diabetes and blood pressure with variable control in the absence of a raised erythrocyte sedimentation rate (ESR). However, at the time of the second eye visual loss, the inferior peripheral retina examination revealed bilateral pseudophakic intraocular lens dislocations. With spectacle correction of +11.50/-1.00 x 75 right eye and +11.50/-1.00 x 65 left eye, her visual acuities were 6/12 right eye and 6/9 left eye, and subsequent secondary intraocular lens insertion was planned. This case highlights the importance of a careful review of the whole eye to ensure that remediable causes of visual loss are not missed.
Parotitis as an Initial Symptom of Kawasaki Disease
Authors: Koji Yokoyama
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

We report the case of a 13-month-old boy who developed right side parotitis as a first symptom of Kawasaki disease (KD). The data presented herein suggest that physicians should be aware that nonsuppurative parotitis is a possible manifestation of KD.
Gastrobronchial Fistula: A Rare Complication of Postlaparascopic Sleeve Gastrectomy-A Case Report and Literature Review
Authors: Mohammed Sabawi, Alhassan Alhasson, Abdul-Rahman Abualruz, Alaa Abdulsattar Al-Taie
Journal: Case Rep Radiol (2021)
MeSH terms: Case Reports

Introduction:
Obesity is one of the leading causes of morbidity and mortality in countries all over the world, and its prevalence has been increasing dramatically in recent years. Bariatric surgery is considered the gold standard of care for patients who failed conservative management. Laparoscopic sleeve gastrectomy (LSG) is of increasing popularity. One of its vicious consequences is the development of acquired fistula between the stomach and the tracheobronchial tract due to intractable gastric leak. Case Report. We are presenting a case of a 25-year-old man who underwent laparoscopic sleeve gastrectomy for morbid obesity, which was complicated with the development of gastrobronchial fistula, despite an unremarkable postoperative course.
Conclusion:
Acquired gastrobronchial fistula due to bariatric surgery is not reported widely in radiologic literature; hence, there is lack of consensus of the diagnostic modality of choice. However, there is a myriad of tests available for diagnosing gastrobronchial fistula, with contrast study of the upper gastrointestinal tract which is the widely accepted diagnostic test.
Pedunculated Epipericardial Fat Torsion: A Subtle Clinical and Radiological Mimicker
Authors: Baptiste A Vande Berg, Loes Tanghe, Adriana Dubbeldam
Journal: J Belg Soc Radiol (2022)
Keywords: epipericardial fat necrosis, acute chest pain, mediastinal fat necrosis, pleuritic chest pain, pulmonary embolism
MeSH terms: Case Reports

Teaching Point: Epipericardial fat torsion is a little-known and uncommon condition with sometimes subtle findings making general awareness essential for detection and for confident diagnosis.
Primary diffuse large B cell lymphoma of the prostate in a patient with HIV infection
Authors: Takashi Ujiie, Taketo Kawai, Tomoyuki Kaneko, Tadashi Yamamoto, Yasutoshi Oshima, Mutsuo Fujikura, Nobu Akiyama, Yuko Sasajima, Haruko Tashiro, Tohru Nakagawa
Journal: IJU Case Rep (2022)
Keywords: hiv, diffuse large b‐cell lymphoma, malignant lymphoma, prostate
MeSH terms: Case Reports

Introduction:
Primary prostate lymphomas are very rare; however, the incidence of malignant lymphoma is high among HIV-infected patients. Herein, we report a case of primary diffuse large B-cell lymphoma (DLBCL) of the prostate in an HIV-infected patient.
Case presentation:
A 47-year-old man presented with miction pain and back pain. Abdominal CT revealed a huge prostate mass extending to the left retroperitoneum. Serum sIL-2R level was abnormally high (2896 U/mL), whereas PSA level was normal. HIV antigen and antibody tests were positive. The patient was diagnosed with DLBCL after a prostate biopsy. Systemic treatments were administered; however, the tumor was refractory, and the patient died 9 months after diagnosis.
Conclusion:
Prostate malignant lymphomas are rare but should be considered in patients with enlarged prostates and normal PSA levels. It should be noted that HIV patients have a high incidence of malignant lymphomas.