OpenMed/multicare-articles huggingface dataset:
Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy
Authors: Gabriella Guzzo, Salima Sadallah, Heidi Fodstad, Jean-Pierre Venetz, Samuel Rotman, Daniel Teta, Thierry Gauthier, Giuseppe Pantaleo, Andrea Superti-Furga, Manuel Pascual
Journal: Front Genet (2021)
Keywords: cfh, cfhr5, iga nephropathy, atypical hemolytic uremic syndrome, complement, eculizumab, thrombotic microangiopathy (ta-tma)
MeSH terms: Case Reports

IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Despite appropriate therapy, 20-40% of affected-patients evolve toward end-stage kidney disease (ESKD). Mesangial IgA deposits are the hallmark of IgAN, and complement deposition (C3) seems to differentiate latent IgA mesangial deposits from active IgAN. Atypical hemolytic uremic syndrome (aHUS), another disease in which complement plays an important role, is caused by inherited or acquired deregulation of the alternative pathway (AP) of complement. A subgroup of IgAN shows thrombotic microangiopathy (TMA) lesions in kidney biopsies, the histological characteristic of aHUS. Genetic variants of complement Factor H (CFH), known to be present in aHUS, have been associated with rapidly progressive forms of IgAN and a clinical pattern of aHUS. Genome-wide association studies (GWAS) have confirmed that the 1q32 region, encoding for CFH and its related proteins, is an IgAN susceptibility locus. A 30 year-old man was admitted for seizures and malignant hypertension. The kidney biopsy showed IgAN associated with features of TMA. Despite five plasma exchanges, the patient remained dialysis-dependent, and ESKD was diagnosed. Functional and genetic complement analysis were performed. A monoallelic protein-truncating, likely loss-of-function variant was identified in the CFHR5 gene. Eculizumab is the treatment of aHUS. As it has been successfully used in a few cases of rapidly progressive IgAN, it was decided to administer eculizumab over a period of 12 months in addition to the usual immunosuppression for renal transplantation. After a follow-up of 3 years, there was no clinical disease recurrence. Systematic biologic and genetic screening of complement in individuals with IgAN might be useful to better delineate the role of the AP of complement in renal disease progression, and this may have therapeutic implications.
Simultaneous Presentation of a Right Littre's Hernia and a Left Amyand's Hernia in a School-Aged Patient
Authors: Andrés Eduardo Velásquez-Bueso, Luis Enrique Sánchez-Sierra, Sergio David Villeda-Rodríguez, Roberto Antonio Martínez-Quiroz
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Introduction:
Inguinal hernia is the most common condition in both male and female subjects. Amyand's hernia is characterized by the presence of the cecal appendix, swollen or not, inside the inguinal hernia sac. It is a rare condition and represents 1% of all the inguinal hernia pathology. Littre's hernia (LH) is a condition defined by the presence of a Meckel diverticulum (MD) inside a hernial sac. It is an extremely rare condition, with less than 50 cases reported in the last three hundred years, present in only 1% of all diagnosed MD.
Case presentation:
A six-year-old male patient presented with a history of two bilateral protruding masses in the inguinal-scrotal region that have continued to grow since birth. No gastrointestinal symptoms were reported. Physical examination showed a bilateral inguinoscrotal mass which increased in size during the Valsalva maneuver. Surgical intervention was carried out with a bilateral hernia repair being performed under an anterior method, the surgical invagination of the MD within the small intestine and the appendix within the caecum.
Conclusion:
Both entities should be considered as a differential diagnosis when it comes to a pediatric patient with unilateral or bilateral inguinal hernias with an uncertain etiology, allowing an early diagnosis and prompt treatment. We present here the first recorded case of both Amyand's hernia and Littre's hernia presenting simultaneously in a pediatric patient.
Renal Cell Carcinoma in a Horseshoe Kidney Treated with Laparoscopic Partial Nephrectomy
Authors: Shinji Ohtake, Takashi Kawahara, Go Noguchi, Noboru Nakaigawa, Kimio Chiba, Hiroji Uemura, Masahiro Yao, Kazuhide Makiyama
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

Introduction:
Horseshoe kidney is one of the most common congenital renal fusion anomalies. Due to its poor mobility and abnormal vasculature form, surgeons should pay close attention to all anatomical variations.
Case presentation:
An 83-year-old woman was referred to our hospital because of left renal tumor in a horseshoe kidney incidentally found by her previous hospital. We performed laparoscopic partial nephrectomy. The pathological diagnosis was clear cell renal cell carcinoma. G2 INFα V-pT1a with a negative surgical margin. No evidence of recurrence has been noted, and the renal function is well preserved at 28 months after surgery.
Conclusion:
When performing laparoscopic partial nephrectomy for renal carcinoma, especially a horseshoe kidney, preoperative imaging is crucial for identifying the location of the renal vessels.
Metallic stents for proximal tracheal stenosis: is it worth the risk?
Authors: Sandeep Bansal, Shruti Dhingra, Babita Ghai, Ashok K Gupta
Journal: Case Rep Otolaryngol (2012)

Objective. To demonstrate the risk associated with blocked proximal tracheal stents when a patient presents with acute respiratory distress, with blockage of stent and what is the best management we can offer without damage to the stent and its associated complications. Case Report. A 22-yr-old, male patient, presented in severe respiratory distress. He had history of corrosive poisoning for which he was tracheotomised. A stainless steel wire mesh stent was placed in the trachea, from the subglottis, to just above the carina. One month later, he presented with a critically compromised airway with severe respiratory distress. Emergency tracheostomy was done and the metallic stent had to be cut open, in order to provide an airway. Conclusion. Management of blocked proximal stents with patient in respiratory distress remains a challenge. Formation of granulation tissue is common and fibreoptic bronchoscopic assisted intubation may not always be possible. A regular follow up of all patients with stents is essential. Placement of stents within a few centimetres of cricotracheal junction should not be encouraged for long term indications.
Barriers experienced by people with disabilities participating in income-generating activities. A case of a sheltered workshop in Bloemfontein, South Africa
Authors: Nokuthula Tinta, Hester Steyn, Jana Vermaas
Journal: Afr J Disabil (2020)
Keywords: barriers, income generating activities, participation, people with disabilities, sheltered workshop

Background:
People with disabilities often participate in income-generating activities (IGAs) in sheltered workshop in South Africa. However, they face many barriers that limit their ability to participate effectively in economic activities hosted by the workshops.
Objectives:
To illustrate the barriers that limit the participation of people with disabilities in IGAs in a sheltered workshop.
Method:
A qualitative exploratory single case study was conducted in a sheltered workshop. Eighteen participants, age 22 to 52 years with various disabilities were purposively sampled. Observations and semi-structured interview guides were used to generate data. Verbatim transcription was used after which content analysis was applied to identify ideas and concepts relating to barriers experienced by people with disabilities participating in IGAs.
Results:
Some of the barriers participants experienced included institutional barriers (ability to use working tools, inability to concentrate for long periods, lack of funds, language barriers, lack of motivation, activities that are not stimulating and lack of artistry skills) and attitudinal barriers (exclusion from decision making) These barriers had an adverse influence on their performance in IGAs.
Conclusion:
The study found eight different barriers that existed in a sheltered workshop which limited the participation of the people with disabilities that attended the workshop. This information can be used to develop strategies to address each barrier and promote increased participation of the individual thereby improving their quality of life.
Liver Involvement in SARS-CoV-2 Vertically Infected Newborn: A Case Report
Authors: Ilaria Stolfi, Maria Giulia Conti, Alessandra Marciano, Lucia Dito, Fabio Natale, Monica Bartolucci, Raffaella Cellitti, Daniela Regoli, Alessandra Ticchiarelli, Ida Pangallo, Federica Pagano, Camilla Ajassa, Roberto Brunelli, Gianluca Terrin
Journal: Front Pediatr (2021)
Keywords: covid-19, infectious diseases, liver function, neonatology, vertical transmission
MeSH terms: Case Reports

Neonatal SARS-CoV-2 infection can occur antenatally, peripartum, or postnatally. In the newborn, clinical manifestations may vary including fever and respiratory, gastrointestinal and neurological symptoms. Most commonly, they are subclinical. We herein present a case of vertical transmission of SARS-CoV-2 presenting with liver injury, characterized by an increase in serum transaminases.
Less than subtotal parathyroidectomy in multiple endocrine neoplasia type 1: A case report and review of the literature
Authors: Diani Kartini, Filipus Dasawala, Maria Francisca Ham
Journal: Int J Surg Case Rep (2020)
Keywords: case report, multiple endocrine neoplasia type 1 (men1), parathyroidectomy, primary hyperparathyroidism (phpt)
MeSH terms: Case Reports

Introduction:
Multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome with common presenting signs and symptoms secondary to primary hyperparathyroidism (PHPT), which is managed surgically. Traditionally, either subtotal parathyroidectomy (SPTX) or total parathyroidectomy with autologous transplantation (TPTX) is the approach of choice. However, recent studies showed comparable persistence and recurrence rate in a subset of MEN1 patients (two or more concordant preoperative imaging results) who underwent less than subtotal parathyroidectomy (LSPTX).
Presentation of case:
We report a case of patient with PHPT and delayed diagnosis of MEN1, who underwent LSPTX without intraoperative parathyroid hormone (IOPTH) measurement. The approach was chosen based on the preoperative imaging studies. Unfortunately, the PHPT persisted and the patient was reoperated. To further elucidate the issue, a systematic search of the literature was conducted on Cochrane library, PubMed, and Scopus; articles relevant to the case were reviewed. Results are conflicting results with most of the studies showed LSPTX is inferior compared to the other two approaches.
Discussion:
Therefore, given the current body of evidence, we consider that subtotal or total parathyroidectomy is still the preferred surgical approach for the treatment of PHPT in MEN1.
Conclusion:
Further studies are still needed to see whether LSPTX is comparable to SPTX or TPTX in regards to persistent and recurrent hyperparathyroidism if the conditions are met.
Narrative Elicitation as Ethnography: Methodological Insights From the Examination of Children's Perspective Marking in Amdo Tibetan
Authors: Shannon M Ward
Journal: Front Psychol (2021)
Keywords: tibetan language, ethnography, evidentiality, language endangerment, language socialization, narrative elicitation, perspective marking

This paper employs a case study with Amdo Tibetan children to demonstrate the benefits of narrative elicitation for ethnographic language socialization research in under-studied languages. Primarily by examining spontaneous verbal interaction, existing language socialization research has demonstrated how salient grammatical resources shape children's understanding of cultural belief systems pertaining to sociality and the appropriate display of emotion. However, spontaneous data do not always capture children's full linguistic repertoires and competencies, and may therefore present a partial picture of their mastery over particular grammatical systems. One such area that remains to be studied is how children use interactional cues to build their emerging knowledge of grammatical perspective marking in Tibetan languages. This paper integrates narrative elicitation with ethnographic methods from language socialization to examine how Amdo Tibetan children mark perspective using evidentiality, the grammatically-obligatory encoding of knowledge source, an area not frequently documented in language socialization studies. Language socialization research involved 15-months of participant observation, audio-video recording, and analysis of spontaneous interactions with children aged 1-4. This ethnographic research found that adults' narratives highlighted local theories about the importance of compassion (Tib. snying rje) by using grammatical evidentiality to emphasize characters' direct experiences in the story-world. However, grammatical evidentiality was under-represented in children's spontaneous talk. To provide further insight into children's mastery of evidentiality in this culturally salient communicative genre, I conducted narrative elicitation tasks with seven Amdo Tibetan children, aged 2-7. By framing narrative elicitation tasks as forums for social interaction in family homes, I adapted a method traditionally used in experimentation to complement the study of naturalistic interaction. Interaction analysis of the elicited narratives found that family members positioned young children as novice narrators, leading to dialogic rather than monologic narratives. Young children co-constructed shared perspectives on narrated events, and used evidentiality in conventionalized ways by mirroring the grammatical forms of adults' previous utterances. By adapting narrative elicitation tasks to language socialization's ethnographic methods, this paper models how qualitative researchers can locate patterns in children's experiences of language across complementary settings of data collection, an endeavor that is particularly important to research with child speakers of under-documented languages.
Intracavernosal metaraminol bitartrate for treatment of priapism resulting from circumcision: a case report
Authors: Min Tang, Bianjiang Liu, Jie Li, Qiang Lu, Ninghong Song, Zengjun Wang, Wei Zhang
Journal: Springerplus (2016)
Keywords: circumcision, injection, intracavernosal, metaraminol, priapism

Introduction:
Priapism is an uncommon disorder of involuntary prolonged erection beyond sexual excitement or desire. Herein, we present a rare case of priapism resulting from traditional circumcision under regional anesthesia with dorsal penile nerve block by xylocaine, which was successfully treated by intracavernosal injection of metaraminol bitartrate.
Case description:
A 37-year-old man visited our out-patient department for a penile erection, which had been observed during the surgery, lasting for 21 days. 10 days after circumcision, he accepted simple corporeal aspiration in another hospital but it had no effect. In our hospital, he was injected intracavernosally twice a day, with 2 mg metaraminol bitartrate diluted in 1 ml normal saline every time. Complete resolution of penile tumescence was achieved after injection for 7 days, no complications were observed.
Discussion and evaluation:
Priapism developed following circumcision is very uncommon. This particular case was diagnosed as high-flow non-ischemic priapism, and is the first reported event of priapism resulting from circumcision which was finally successfully treated with the efficient and minimally invasive method of intracavernosal injection of metaraminol bitartrate.
Conclusions:
Intracavernous injection of metaramino bitartrate might be a simple, effective and safe method for relief of priapism associated with circumcision. Yet, more clinical studies are needed to validate the effectiveness of intracavernosal metaramino bitartrate for post-circumcision priapism.
Weakness and the inability to ambulate in a 14-month-old female: a case report and concise review of guillain-barre syndrome
Authors: Scott A Bloch, Mahsa Akhavan, Jahn Avarello
Journal: Case Rep Emerg Med (2013)

Guillain-Barre syndrome (GBS) is an acquired disease of the peripheral nervous system which causes demyelination and leads to weakness, ataxia, and areflexia. There are a variety of forms of the syndrome, and although it is found in all age groups, it is rare in children less than two years of age. The present complaint of weakness, ataxia, or lower extremity pain in the pediatric population should cause the practitioner to consider GBS in the differential. We describe a case of a 14-month-old girl presenting with weakness and the inability to ambulate who was diagnosed with GBS. The purpose of this paper is to review the emergency medicine diagnosis and management of Guillain-Barre syndrome in children.
Multiple extrauterine adenomyomas presenting in upper abdomen and pelvis: a case report and brief review of the literature
Authors: Mana Moghadamfalahi, Daniel S Metzinger
Journal: Case Rep Obstet Gynecol (2012)

Adenomyomas are benign tumors composed of smooth muscle and endometrial tissue. These tumors usually arise from the myometrium. Extrauterine adenomyomas are rare with only a few case reports available in the literature. Here, we report an unusual case of multiple adenomyomas in a 39-year-old woman six years after hysterectomy for multiple leiomyomata. To the best of our knowledge, this is the first case of extrauterine adenomyoma presenting as an upper abdominal mass.
Understanding the Biostimulant Action of Vegetal-Derived Protein Hydrolysates by High-Throughput Plant Phenotyping and Metabolomics: A Case Study on Tomato
Authors: Kenny Paul, Mirella Sorrentino, Luigi Lucini, Youssef Rouphael, Mariateresa Cardarelli, Paolo Bonini, Hélène Reynaud, Renaud Canaguier, Martin Trtílek, Klára Panzarová, Giuseppe Colla
Journal: Front Plant Sci (2019)
Keywords: ros signaling, functional biostimulant characterization, integrative image-based high-throughput phenotyping, metabolomics, morpho-physiological traits, protein hydrolysates

Designing and developing new biostimulants is a crucial process which requires an accurate testing of the product effects on the morpho-physiological traits of plants and a deep understanding of the mechanism of action of selected products. Product screening approaches using omics technologies have been found to be more efficient and cost effective in finding new biostimulant substances. A screening protocol based on the use of high-throughput phenotyping platform for screening new vegetal-derived protein hydrolysates (PHs) for biostimulant activity followed by a metabolomic analysis to elucidate the mechanism of the most active PHs has been applied on tomato crop. Eight PHs (A-G, I) derived from enzymatic hydrolysis of seed proteins of Leguminosae and Brassicaceae species were foliarly sprayed twice during the trial. A non-ionic surfactant Triton X-100 at 0.1% was also added to the solutions before spraying. A control treatment foliarly sprayed with distilled water containing 0.1% Triton X-100 was also included. Untreated and PH-treated tomato plants were monitored regularly using high-throughput non-invasive imaging technologies. The phenotyping approach we used is based on automated integrative analysis of photosynthetic performance, growth analysis, and color index analysis. The digital biomass of the plants sprayed with PH was generally increased. In particular, the relative growth rate and the growth performance were significantly improved by PHs A and I, respectively, compared to the untreated control plants. Kinetic chlorophyll fluorescence imaging did not allow to differentiate the photosynthetic performance of treated and untreated plants. Finally, MS-based untargeted metabolomics analysis was performed in order to characterize the functional mechanisms of selected PHs. The treatment modulated the multi-layer regulation process that involved the ethylene precursor and polyamines and affected the ROS-mediated signaling pathways. Although further investigation is needed to strengthen our findings, metabolomic data suggest that treated plants experienced a metabolic reprogramming following the application of the tested biostimulants. Nonetheless, our experimental data highlight the potential for combined use of high-throughput phenotyping and metabolomics to facilitate the screening of new substances with biostimulant properties and to provide a morpho-physiological and metabolomic gateway to the mechanisms underlying PHs action on plants.
Acute Intestinal Obstruction Complicating Abdominal Pregnancy: Conservative Management and Successful Outcome
Authors: Gerald Okanandu Udigwe, George Uchenna Eleje, Eric Chukwudi Ihekwoaba, Onyebuchi Izuchukwu Udegbunam, Richard Obinwanne Egeonu, Ayodele Obianuju Okwuosa
Journal: Case Rep Obstet Gynecol (2016)

Background. Acute intestinal obstruction during pregnancy is a very challenging and unusual nonobstetric surgical entity often linked with considerable fetomaternal morbidity and mortality. When it is synchronous with abdominal pregnancy, it is even rarer. Case Presentation. A 28-year-old lady in her second pregnancy was referred to Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria, at 27 weeks of gestation due to vomiting, constipation, and abdominal pain. Examination and ultrasound scan revealed a single live intra-abdominal extrauterine fetus. Plain abdominal X-ray was diagnostic of intestinal obstruction. Conservative treatment was successful till the 34-week gestational age when she had exploratory laparotomy. At surgery, the amniotic sac was intact and the placenta was found to be adherent to the gut. There was also a live female baby with birth weight of 2.3 kg and Apgar scores of 9 and 10 in the 1st and 5th minutes, respectively, with the baby having right clubbed foot. Adhesiolysis and right adnexectomy were done. The mother and her baby were well and were discharged home nine days postoperatively. Conclusion. To the best of our knowledge, this is the first report of abdominal pregnancy as the cause of acute intestinal obstruction in the published literature. Management approach is multidisciplinary.
Progressive multifocal leukoencephalopathy in a patient with multiple myeloma: a case report and analysis of the FDA adverse event reporting system
Authors: Elise Jonasson, Ronald Antulov, Per Trøllund Pedersen, Tobias Sejbæk
Journal: Front Neurol (2023)
Keywords: faers, pml, case report, immunosuppression, multiple myeloma, progressive multifocal leukoencephalopathy
MeSH terms: Case Reports

This paper demonstrates a case of progressive multifocal leukoencephalopathy (PML) in a patient with multiple myeloma (MM) treated with nine different MM therapies. This case report contributes to the already published 16 cases of PML in patients with MM. Additionally, this paper presents an analysis of cases from the United States Food and Drug Administration Adverse Event Report System database (n = 117) with a description of demographics and MM-specific therapies. Patients with MM, that developed PML, were treated with immunomodulatory drugs (97%), alkylating agents (52%), and/or proteasome inhibitors (49%). Prior to PML diagnosis, 72% of patients received two or more MM therapies. These results indicate that PML in MM is underreported and could be related to treatment with multiple immunosuppressive therapies rather than MM as a disease itself. Physicians should be aware of potential PML in the late stage of heavily treated MM patients.