OpenMed/multicare-articles huggingface dataset:
The unusual association of inverse retinitis pigmentosa and Fuchs' heterochromic iridocyclitis
Authors: Gian Franco Díez-Cattini, David Arturo Ancona-Lezama, Carlos Valdés-Lara, Virgilio Morales-Cantón
Journal: Int J Retina Vitreous (2017)
Keywords: fuchs’ heterochromic iridocyclitis, inverse retinitis pigmentosa, retinitis pigmentosa, uveitis
MeSH terms: Case Reports

Background:
Classic retinitis pigmentosa (RP) and other syndromic variants have previously been associated to Fuchs' heterochromic iridocyclitis (FHI). Common immunogenic and inflammatory pathways have been proposed to explain the higher incidence of this uveitic phenomenon in patients with retinal dystrophies without definitive answers. Infrequent variants of RP such as inverse RP have not been previously reported in association with FHI. We believe that finding the way these entities connect can shed some light into their complex pathogenesis and help find ways to foresee and prevent the appearance of complications such as cataract and macular edema.
Case presentation:
We present a 15 year old mexican male with history of nyctalopia and rapid, progressive visual loss since infancy who had profound hyper and hypopigmented retinal pigment epithelium changes in the posterior pole together with pigment clumping in the macula of both eyes and an electroretinogram pattern consistent of rod-cone dystrophy. He was diagnosed with inverse RP. Three years after his first visit he was found to have a mild asymptomatic non granulomatous anterior uveitis in the right eye with fine stellate keratic precipitates and subtle iris stromal atrophy not associated with iris synechiae and without evidence of posterior uveitis or findings consistent with infectious etiology. Findings were consistent with FHI. As the patient was normotensive, the lens was transparent and there was no clinical evidence of macular edema, the patient was kept under observation without treatment.
Conclusions:
Patients with RP are prone to develop chronic, low grade inflammation responses similar to the ones present in FHI. This association makes us believe that immunogenetic pathways involved in the degenerative process that leads to photoreceptor loss may become a target in the prevention and treatment of inflammatory complications in RP and disease progression. It also suggests FHI may be a triggered response predisposed by an unidentified genetic factor that may be related to genes affected in RP and thus be identified before irreversible complications such as glaucoma occur.
Basilar impression as complication of Grisel's syndrome
Authors: Lasse Dührsen, Tammam Abboud, Lennart Viezens, Sven Oliver Eicker, Marc Dreimann
Journal: Clin Case Rep (2017)
Keywords: atlantoaxial joint, grisel's syndrome, basilar impression, craniocervical junction
MeSH terms: Case Reports

Grisel's syndrome presents a rare disease. Here, we present a peculiar case of Grisel's syndrome with an unfavorable course developing a basilar impression. This highlights the importance of close clinical and radiological follow-up even in cases where the course seems uncomplicated.
Anaphylaxis to supplemental oral lactase enzyme
Authors: M R Voisin, R Borici-Mazi
Journal: Allergy Asthma Clin Immunol (2016)
Keywords: anaphylaxis, aspergillus, ige mediated, lactase allergy, lactose intolerance
MeSH terms: Case Reports

Background:
Anaphylactic reactions involving IgE mediated hypersensitivity have been frequently reported for a number of uncommon foods. However, cases of anaphylaxis to over the counter vitamins and oral supplements have been rarely published. Lactose intolerance affects approximately 20% of Canadians and roughly 70% of the world's population of any age. Lactose intolerance develops primarily due to the absence of the enzyme lactase and treatment involves avoidance of lactose-containing foods or ingestion of commercially available lactase enzyme preparations prior to their consumption. This case report represents the first documented evidence of anaphylaxis after exposure to supplemental lactase enzyme preparation.
Case presentation:
A 38 years old Caucasian female presented with a history of self-diagnosed adult-onset lactose intolerance and a suspected allergy to lactase containing tablets. She reported an episode of bilateral orbital swelling, shortness of breath, and throat constriction after oral ingestion of a supplemental lactase enzyme tablet. Her symptoms slowly resolved with the administration of inhaled salbutamol and oral diphenhydramine. She handled lactase tablets for years to her children who were lactose intolerant, but had never ingested the tablets herself prior to the reported episode. In clinic, physical examination was benign, and skin prick testing to a slurry of the lactase tablet revealed a strongly positive reaction wheal size of 10 mm and flare of 60 mm with normal controls. The patient reported throat tightness and constriction after skin prick testing and required cetirizine treatment and observation in clinic. Subsequent skin testing was performed with individual ingredients of the lactase tablet provided by the manufacturer and Aspergillus niger, a common bacteria used in lactase preparations. Only concentrated lactase enzyme elicited a positive response. The patient was diagnosed with lactase tablet induced anaphylaxis due to synthetic lactase enzyme IgE mediated allergy, and was advised to avoid all products containing lactase enzymes as an ingredient and to carry an epinephrine auto-injector.
Conclusion:
This is the first documented case report of an anaphylactic reaction to supplemental lactase enzyme. This case report reinforces the importance of thorough allergy assessment, education on avoidance of triggers, in particular with uncommon allergens.
Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia
Authors: Kei Sasaki, Hayato Tada, Masa-Aki Kawashiri, Toshimitsu Ito
Journal: Front Cardiovasc Med (2022)
Keywords: ldl cholesterol, pcsk9, apolipoprotein b, familial hypercholesterolemia, familial hypobetalipoproteinemia
MeSH terms: Case Reports

Type 1 familial hypobetalipoproteinemia (FHBL1), characterized by low levels of apolipoprotein B (ApoB)-containing lipoproteins, elevation of transaminases, and hepatic steatosis, is a rare disease the prevalence of which is 1 in 3,000 among general population. Here we report an extremely rare family where phenotypes of familial hypercholesterolemia (FH) are canceled by coexistence of FHBL1 caused by an truncating mutation in apolipoprotein B (APOB).
Use of brimonidine tartrate to resolve telangiectatic matting: case report
Authors: Brenno Augusto Seabra de Mello, Yasmin de Rezende Beiriz, Américo Carnelli Bonatto, Gustavo Sasso Benso Maciel, Laila Reggiani de Almeida, José Marcelo Corassa
Journal: J Vasc Bras (2020)
Keywords: sclerotherapy, telangiectasis, varicose veins case report
MeSH terms: Case Reports

Sclerotherapy is currently the treatment of choice for telangiectasias and reticular veins, with grade 1A recommendation in the European Guideline for sclerotherapy. The most common side effects of this procedure are hyperpigmentation and telangiectatic matting, the second of which provokes great concern because of the esthetic damage and the difficulty of treatment. Matting refers to vessels with a diameter of less than 0.2 mm, which may emerge irregularly or in well-defined areas, especially on the lower limbs. This report presents a case of matting treated with topical Brimonidine Tartrate.
Case report: Reconstruction of the long-gap unilateral absence of right pulmonary artery with contralateral pulmonary artery flap and autologous pericardial graft
Authors: Tiange Li, Yunfei Ling, Ziqing Xiong, Qi An
Journal: Front Cardiovasc Med (2023)
Keywords: cardiovascular surgery, congenital heart defects, reconstruction of pulmonary artery, surgical techinque, unilateral absence of pulmonary artery (uapa)
MeSH terms: Case Reports

Unilateral absence of pulmonary artery (UAPA) is a rare type of congenital abnormality that may coexist with other congenital abnormalities or present as an isolated lesion, the latter form can be asymptomatic. Surgical procedure is usually carried out when UAPA was diagnosed with significant symptoms, and the aim of surgery is to restore the pulmonary flow distribution. The right-side UAPA is a considerable challenge for surgeons to process surgery, however, technical description of this type of UAPA are limited. Here we described a rare case of a two-month girl with absence of right pulmonary artery, we presented a technique that reconstructs this long-gap UAPA with contralateral pulmonary artery flap and autologous pericardial graft.
Postoperative dissecting ventricular septal hematoma: recognition and treatment
Authors: Christopher R Mart, Aditya K Kaza
Journal: ISRN Pediatr (2011)
MeSH terms: Case Reports

Dissecting ventricular septal hematoma (DVSH) rarely occurs after repair of a ventricular septal defect (VSD) but can lead to serious complications such as septal rupture, myocardial rupture, cardiogenic shock, heart block, outflow obstruction, cardiac tamponade, abscess transformation, and death. This paper describes the diagnosis and management of acute, severe, left ventricular outflow tract obstruction caused by the development of a DVSH after VSD repair.
High presacral collection approached through the perineal route: A novel computed tomography-guided technique
Authors: Shuchi Bhatt, Harshit Bansal, Sagar Nayak, Saumya Dangwal
Journal: SA J Radiol (2021)
Keywords: mdr, tb, infectious medicine, interventional radiology, trans-perineal
MeSH terms: Case Reports

For a definitive diagnosis of abdomino-pelvic lesions, percutaneous aspiration or biopsy is often necessary; however, finding a safe 'window' for access is challenging. This case report discusses a novel method to approach a deep pelvic collection and also briefly reviews the various approaches to access such lesions. A sample was obtained from a non-resolving presacral collection using a CT-guided percutaneous, trans-perineal approach with repeated sessions of hydro-dissection. Successful aspiration and analysis revealed multi-drug resistant tuberculosis, thus guiding appropriate management.
Illuminating the empowerment journey of caregivers of children with disabilities: Understanding lessons learnt from Ghana
Authors: Maria Zuurmond, Janet Seeley, Tom Shakespeare, Gifty G Nyante, Sarah Bernays
Journal: Afr J Disabil (2020)
Keywords: caregiver, carer, children with disabilities, empowerment, support groups

Background:
Empowerment is an increasingly popular goal, considered core to a transformative agenda for children with disabilities and their families. However, it can still be a poorly understood concept in practice.
Objective:
This article is an empirical analysis of the 'empowerment journeys' of caregivers participating in a community-based training programme in Ghana.
Method:
In-depth interviews were conducted with 18 caregivers at three time points over 14 months. Thematic analysis was conducted on the full data set, with three representative case studies selected for more detailed analysis to illustrate the dynamism of time and context in shaping the empowerment journey.
Results:
Our findings illuminate the complexity and non-linearity of the caregiver empowerment journey. There were important gains in individual dimensions of power and the nascent emergence of collective power, through improved knowledge and valuable peer support from group membership. However, further gains were impeded by their limited influence over wider economic and sociopolitical structural issues that perpetuated their experiences of poverty, stigma and the gendered nature of caregiving. The support group facilitator often played a valuable brokering role to help traverse individual agency and structural issues.
Conclusion:
A richer and more nuanced understanding of caregiver empowerment in the community and family context can inform the wider discourse on disability. Guidelines on working with people with disabilities, and the role of empowerment, should not neglect the pivotal role of caregivers. There are important lessons to be learnt if we want to improve family-centred interventions and transform the lives of children with disabilities.
An Unusual Lacerated Tracheal Tube during Le Fort Surgery: Literature Review and Case Report
Authors: Preeta George, John E Fiadjoe, Allan F Simpao
Journal: Case Rep Anesthesiol (2016)

Maxillofacial surgeries can present unique anesthetic challenges due to potentially complex anatomy and the close proximity of the patient's airway to the surgical field. Damage to the tracheal tube (TT) during maxillofacial surgery may lead to significant airway compromise. We report the management of a patient with a partially severed TT during Le Fort surgery for midfacial hypoplasia and management strategies based on peer-reviewed literature. This case illustrates the clinical clues associated with a damaged TT and explores the challenges of managing this potentially catastrophic issue.
Case report: Injected corticosteroids for treating leprosy isolated neuritis
Authors: Clarissa Neves Spitz, Izabela Jardim Rodrigues Pitta, Ligia Rocha Andrade, Anna Maria Sales, Euzenir Nunes Sarno, Nivaldo Ribeiro Villela, Roberta Olmo Pinheiro, Marcia Rodrigues Jardim
Journal: Front Med (Lausanne) (2023)
Keywords: case report, corticosteroid, leprosy, neuritis, ultrasound
MeSH terms: Case Reports

One of the main manifestations of leprosy is peripheral nerve impairment. Early diagnosis and treatment are important to reduce the impact of neurological impairment, which can cause deformities and physical disabilities. Leprosy neuropathy can be acute or chronic, and neural involvement can occur before, during, or after multidrug therapy, and especially during reactional episodes when neuritis occurs. Neuritis causes loss of function in the nerves and can be irreversible if left untreated. The recommended treatment is corticosteroids, usually through an oral regimen at an immunosuppressive dose. However, patients with clinical conditions that restrict corticosteroid use or that have focal neural involvement may benefit from the use of ultrasound-guided perineural injectable corticosteroids. In this study, we report two cases that demonstrate how the treatment and follow-up of patients with neuritis secondary to leprosy, using new techniques, can be provided in a more individualized way. Nerve conduction studies in association with neuromuscular ultrasound were used to monitor the response to treatment with injected steroids, focusing on neural inflammation. This study provides new perspectives and options for this profile of patients.
A Case of New-Onset Dermatomyositis in the Second Trimester of Pregnancy: A Case Report and Review of the Literature
Authors: Tayfun Akalin, Hatice Akkaya, Barış Büke, İbrahim Koçak
Journal: Case Rep Obstet Gynecol (2016)

Dermatomyositis (DM), a subtype of idiopathic inflammatory myopathies (IIMs), is characterized by skin rash, proximal muscle weakness, and inflammatory infiltrates in the muscle tissue. The peak incidence of the disease is at the age of 50-60 years, and only 14% of the patients with IIMs are estimated to present during reproductive years. Because of the limited pregnancy experience in patients with IIMs, little is known regarding the effects of DM on pregnancy or vice versa. We herein report a 40-year-old woman who developed DM in the second trimester of her pregnancy and did not respond to treatment with methylprednisolone. Her pregnancy was terminated at the 32nd week of gestation, due to preeclampsia and fetal distress. She delivered a healthy baby and improved rapidly after delivery. We have searched PubMed for relevant articles and reviewed previously published cases.
Ureteric obstruction secondary to schistosomiasis 2 years after praziquantel therapy: a case report
Authors: Abimbola Olaniyi Olajide, Folakemi Olajumoke Olajide, Ademola Adegoke Aremu, Akinkunmi Oluwole Komolafe
Journal: Pan Afr Med J (2012)
Keywords: urethra, obstruction, praziquantel, schistosomiasis, surgery
MeSH terms: Anthelmintics / therapeutic use, Praziquantel / therapeutic use, Schistosomiasis haematobia / complications, Schistosomiasis haematobia / drug therapy, Ureteral Obstruction / etiology, Case Reports, Humans, Male, Time Factors, Treatment Failure, Young Adult, Anthelmintics, Praziquantel

Schistosomiasis is one of the oldest and commonest parasitic infestations of mankind and one of the leading infestations of public health concern. Hitherto, praziquantel has been the only drug for mass eradication of Schistosomiasis. Few reports have shown possible resistance of the schistosome to praziquantel in some part of the world with global concern about the future of the drug. We report this case to illustrate progression of Schistosomiasis to surgical complication despite treatment, with bizarre presentation misleading attending physicians. Diagnosis was finally confirmed at post-operation histological examination of specimen.
Biochemical response to hyperbaric oxygen treatment of a transhemispheric penetrating cerebral gunshot injury
Authors: Eric Peter Thelin, Bo-Michael Bellander, Michael Nekludov
Journal: Front Neurol (2015)
Keywords: human, hyperbaric oxygen, microdialysis, multi-modal monitoring, penetrating brain injury

Hyperbaric oxygen (HBO) therapy has been suggested a treatment option in order to reduce the development of secondary insults succeeding traumatic brain injury. This case report studied the course of a 23-year-old gentleman with a close range transhemispheric gunshot wound. The biochemical parameters, using a multi-modal monitoring in the neuro-intensive care unit, improved following HBO treatment.
Primary small cell carcinoma of the vagina
Authors: Rafael Oliveira, Mayra Coelho Bócoli, João Carlos Saldanha, Eddie Fernando Candido Murta, Rosekeila Simões Nomelini
Journal: Case Rep Obstet Gynecol (2013)

The primary small cell carcinoma of the vagina is rare, and it is a highly aggressive malignancy with no consensus regarding the treatment of this tumor. The survival rate for patients treated in the early stages is around two years. We related the case report of a patient of 41 years with a vegetative and necrotic lesion in left vaginal wall, in middle and upper third, and involvement of parametrium in its proximal third and medium third. A biopsy showed a small cell undifferentiated carcinoma composed of epithelial cells with round nuclei, oval or elongated, hyperchromatic nuclei, with little distinct nucleoli, and scarce cytoplasm. Immunohistochemistry showed positivity for AE1/AE3, CD57, and chromogranin A. The patient received 6 cycles of chemotherapy with cisplatin and etoposide and radiotherapy, achieving complete response, with complete regression of the lesion. The patient had no sign of tumor recurrence and locoregional or distant metastases after 5 months of followup.
Bilateral obturator hernia diagnosed by computed tomography: a case report with review of the literature
Authors: Sanjay M Khaladkar, Anubhav Kamal, Sahil Garg, Vigyat Kamal
Journal: Radiol Res Pract (2014)

Obturator hernia is a rare form of abdominal hernia and a diagnostic challenge. It is commonly seen in elderly thin females. Its diagnosis is often delayed with resultant increased morbidity and mortality due to bowel ischemia/gangrene. It is mistakenly diagnosed as femoral or inguinal hernia on USG. Computed tomography is diagnostic and is a valuable tool for preoperative diagnosis. This report presents a case of 70-year-old thin female presenting with intestinal obstruction due to left sided obstructed obturator hernia. USG showed small bowel obstruction and an obstructed left sided femoral hernia. CT scan of abdomen and pelvis with inguinal and upper thigh region disclosed left sided obturator hernia. It also detected clinically occult right sided obturator hernia. Early diagnosis and surgical treatment contribute greatly in reducing the morbidity and mortality rate.
Two-stage laparoscopic resection of colon cancer and metastatic liver tumour
Authors: Yukio Iwashita, Atsushi Sasaki, Toshifumi Matsumoto, Kohei Shibata, Masafumi Inomata, Masayuki Ohta, Seigo Kitano
Journal: J Minim Access Surg (2005)
Keywords: colorectal cancer, laparoscopic hepatectomy, laparoscopy-assisted colectomy, metastatic liver tumour
MeSH terms: Case Reports

We report herein the case of 70-year-old woman in whom colon cancer and a synchronous metastatic liver tumour were successfully resected laparoscopically. The tumours were treated in two stages. Both postoperative courses were uneventful, and there has been no recurrence during the 8 months since the second procedure.
Sarcomatoid (spindle cell) carcinoma of the pancreas: A case report and review of the literature
Authors: Joshua Robert Kane, William B Laskin, Kristina A Matkowskyj, Celina Villa, Anjana V Yeldandi
Journal: Oncol Lett (2014)
Keywords: carcinosarcoma, immunohistochemistry, pancreas, sarcomatoid carcinoma, spindle cell carcinoma

Sarcomatoid (spindle cell) carcinoma of the pancreas is a rare, high-grade epithelial malignancy composed predominantly or exclusively of spindle cells demonstrating evidence of epithelial derivation, but no features indicative of a specific line of mesenchymal differentiation. The current study presents the case of an 85-year-old Caucasian male with a tumor mass in the body of the pancreas. The individual subsequently underwent a distal pancreatectomy, splenectomy and partial gastrectomy. Microscopic examination of the 3.3-cm mass located in the body of the pancreas revealed a small, but high-grade, adenocarcinomatous component that blended imperceptibly with malignant spindle cells. No light microscopic or immunohistochemical evidence of specific mesenchymal differentiation was identified, and the spindle cells, as in the case of the carcinoma, were diffusely keratin-positive. Sarcomatoid (spindle cell) carcinoma defined in this way rarely presents in the pancreas, with, to the best of our knowledge, only six cases reported in the English literature.