OpenMed/multicare-articles huggingface dataset:
Chemical Gastroenterocolitis after Dental Root Canal Therapy with Camphorated and Mentholated Chlorophenol
Authors: Mikheil Kalandarishvili, Ernst-Wolfgang Kolbe, Günther Winde, Michael Kaspari
Journal: Case Rep Gastrointest Med (2021)
MeSH terms: Case Reports

A 78-year-old man with a history of pancolitis, after the treatment of dental abscess with oral antibiotics and local application of camphorated and mentholated chlorophenol (CMCP), presented with abdominal pain of 4-day duration, as well as hair loss in the area of moustache and finger nail lifting. He was already treated with rectal application of budesonide because of pancolitis, diagnosed 6 weeks ago and interpreted as an allergic reaction to clindamycin. For further investigation, we performed gastroscopy and colonoscopy, which showed the edematous mucosa with polypus-like changes of the whole mucosa of the stomach, duodenum, first part of the jejunum, distal ileum, complete colon, and rectum. The diagnosis was complicated and was achieved in synopsis with anamnestic details, such as endodontic application of camphorated chlorophenol. The patient symptoms abated after he commenced on mesalazine therapy.
What a wish to die can mean: reasons, meanings and functions of wishes to die, reported from 30 qualitative case studies of terminally ill cancer patients in palliative care
Authors: Kathrin Ohnsorge, Heike Gudat, Christoph Rehmann-Sutter
Journal: BMC Palliat Care (2014)
Keywords: aetiology, cancer, desire to die, ethics, meaning, oncology, palliative care, wish to die, wish to hasten death

Background:
Despite research efforts over recent decades to deepen our understanding of why some terminally ill patients express a wish to die (WTD), there is broad consensus that we need more detailed knowledge about the factors that might influence such a wish. The objective of this study is to explore the different possible motivations and explanations of patients who express or experience a WTD.
Methods:
Thirty terminally ill cancer patients, their caregivers and relatives; from a hospice, a palliative care ward in the oncology department of a general hospital, and an ambulatory palliative care service; 116 semi-structured qualitative interviews analysed using a complementary grounded theory and interpretive phenomenological analysis approach.
Results:
THREE DIMENSIONS WERE FOUND TO BE CRUCIAL FOR UNDERSTANDING AND ANALYSING WTD STATEMENTS: intentions, motivations and social interactions. This article analyses the motivations of WTD statements. Motivations can further be differentiated into (1) reasons, (2) meanings and (3) functions. Reasons are the factors that patients understand as causing them to have or accounting for having a WTD. These reasons can be ordered along the bio-psycho-socio-spiritual model. Meanings describe the broader explanatory frameworks, which explain what this wish means to a patient. Meanings are larger narratives that reflect personal values and moral understandings and cannot be reduced to reasons. Functions describe the effects of the WTD on patients themselves or on others, conscious or unconscious, that might be part of the motivation for a WTD. Nine typical 'meanings' were identified in the study, including "to let death put an end to severe suffering", "to move on to another reality", and - more frequently- "to spare others from the burden of oneself".
Conclusions:
The distinction between reasons, meanings and functions allows for a more detailed understanding of the motivation for the WTD statements of cancer patients in palliative care situations. Better understanding is crucial to support patients and their relatives in end-of-life care and decision making. More research is required to investigate the types of motivations for WTD statements, also among non-cancer patients.
Retroperitoneal lipoma, a rare cause of pelvic mass in women
Authors: Maliheh Arab, Somayyeh Noei Teymoordash, Maryam Talayeh, Abdolali Ebrahimi, Niloofar Nakhlian, Narges Khatoon Tabatabaei Shoja, Masoomeh Raoufi
Journal: Caspian J Intern Med (2021)
Keywords: fatty tumor, pelvic mass, retroperitoneal lipoma
MeSH terms: Case Reports

Background:
Lipoma is a benign mesenchymal tumor of soft tissue that occurs in almost all parts of the body where fat normally exists. Retroperitoneal lipomas are very infrequent condition with about 20 cases represented in the literature since 1980. They usually present as an abdominal mass or with pressure symptoms to adjacent organs.
Case presentation:
A 66-year-old, post-menopausal woman referred to Imam Hossein Medical Center due to abdominal pain. Abdominopelvic magnetic resonance imaging (MRI) revealed a large mass containing fat component without enhancement on the right side of the pelvis. Tumor markers were within normal ranges. The patient underwent laparotomy and a 12 cm retroperitoneal mass which was located on the iliopsoas muscle with extension into the inguinal canal was resected with pathology report of lipoma. There has been no recurrence after one year of follow-up since surgery.
Conclusion:
In the differential diagnosis of retroperitoneal pelvic mass at all ages, lipoma should be considered as a rare cause.
Peritoneal Dialysis with Marked Pneumoperitoneum
Authors: Norio Nakamura, Masamichi Nakata, Daiki Nagawa, Ikuyo Narita, Takeshi Fujita, Reiichi Murakami, Michiko Shimada, Hirofumi Tomita
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

Pneumoperitoneum, the presence of free air within the peritoneal cavity, is often caused by the perforation of gas-containing viscus and commonly requires surgical treatment. However, in patients with peritoneal dialysis, free air is commonly seen on X-ray. We present the case of a patient with peritoneal dialysis with marked pneumoperitoneum. A 75-year-old Japanese male with end-stage renal disease due to antineutrophil cytoplasmic antigen-associated vasculitis had been receiving continuous ambulatory peritoneal dialysis for 9 years. He had a poor appetite and general malaise without abdominal pain or fever. These symptoms gradually worsened, and he was hospitalized. At the time of admission, chest X-ray revealed bilateral free air in the abdomen. Subsequent computed tomography of the abdomen revealed marked pneumoperitoneum. Peritonitis due to perforation of the digestive tract was considered; however, the absence of abdominal pain, fever, and turbidity of dialysis drainage indicated that peritonitis was unlikely. Insufficient air venting during continuous ambulatory peritoneal dialysis bag replacement was suspected. The bag was carefully changed, resulting in a gradual decrease in the free air. We encountered a patient with continuous ambulatory peritoneal dialysis who had significant free air in the abdominal cavity in the absence of peritonitis. The source of the air was determined to be the dialysis bag due to insufficient venting during replacement. This case underscores the importance of instructing patients with continuous ambulatory peritoneal dialysis on the thorough removal of air from the bag during replacement.
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
Authors: Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W Klee, Pavel Pichurin
Journal: Case Rep Genet (2017)
MeSH terms: Case Reports

ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB.
Diagnosis and Surgical Treatment of Thoracic Dorsal Arachnoid Web: A Report of Two Cases
Authors: Junichi Inoue, Naohisa Miyakoshi, Michio Hongo, Takashi Kobayashi, Toshiki Abe, Kazuma Kikuchi, Eiji Abe, Yuji Kasukawa, Yoshinori Ishikawa, Daisuke Kudo, Hayato Kinoshita, Ryota Kimura, Yoichi Shimada
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Introduction:
An arachnoid web (AW) is a relatively rare disease and shows clinical symptoms and radiological findings similar to those of an arachnoid cyst (AC) or spinal cord herniation (SCH). Since the operative procedures for an AW are generally different from those intrathecal disorders, correct preoperative differential diagnosis is important. The purposes of this study were to report the usefulness of magnetic resonance imaging (MRI) and computed tomography (CT) myelography for diagnosing AW and to show the histological findings and clinical results. Case Description. Two patients, a 79-year-old man and a 43-year-old woman, are presented. The primary diagnoses were AC with ossification of the ligamentum flavum and epidural hematoma, respectively, in previous hospitals. They were finally diagnosed by the characteristic MRI and CT myelogram finding called the "scalpel sign." Histological findings showed epithelial cells and fibrous tissue derived from arachnoid tissues and microcalcifications. After surgery, the scalpel sign has vanished, and aggravation of their symptoms was prevented.
Conclusion:
An AW is refractory, but early detection by MRI and CT myelography and early treatment improve outcomes after surgery.
Carpal tunnel syndrome in children: a case report
Authors: Sbai Mohamed Ali, Ben Omrane Youssef, Bellila Senda, Ouni Asma, Maalla Riadh
Journal: Pan Afr Med J (2022)
Keywords: carpal tunnel syndrome, case report, child, hand surgery, mucopolysaccharidosis
MeSH terms: Carpal Tunnel Syndrome / diagnosis, Carpal Tunnel Syndrome / etiology, Carpal Tunnel Syndrome / surgery, Case Reports, Adolescent, Adult, Child, Electromyography, Female, Humans, Median Nerve, Physical Examination, Ultrasonography

Carpal tunnel syndrome is the most common peripheral neuropathy in adults but remains a very rare condition in children. Lysosomal overload diseases (mucopolysaccharidosis and mucolipidosis), anatomical abnormalities, trauma and familial forms are the most frequent aetiologies. No studies report idiopathic forms. We present the case of a 14-year-old girl with Mucopolysaccharidosis type I (MPS I) in its moderate form with multi-visceral involvement. She had a history of a right sunken thumb operated on at a young age. Presenting with bilateral carpal tunnel syndrome more predominant and deficient on the right, confirmed by ultrasound and electromyography (EMG). The patient under went median nerve neurosis with a conventional approach. No complications were observed, we obtained a sensitive recovery at S4, on the motor level the patient is improving and at 6 months follow-up we obtained a motor score of M3. Carpal tunnel syndrome in children is rare. The clinical picture is not very noisy. It is a serious pathology because it can lead to significant motor sequela. It is therefore necessary to be vigilant and to have easy recourse to complementary examinations (electromyography, ultrasound). For our team, the therapeutic attitude is that of systematic open surgical treatment.
Streptococcus constellatus Peritonitis and Subsequent Septic Shock following Intrauterine Device Removal
Authors: Joan Tymon-Rosario, Jessica M Atrio, Hyun Ah Yoon, David Erlichman, Veronica Lerner
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Background:
Previous reports have described cases of abscess formation by Streptococcus constellatus involving the oral cavity, gastrointestinal tract, and septic thrombophlebitis of the right ovarian vein with subsequent bacteremia and septic shock. Ascending infection from the genital tract to the fallopian tubes resulting in peritonitis from Streptococcus constellatus is a rare clinical circumstance where there is minimal information in the literature to guide its diagnosis, management, and expected prognosis.
Case:
A 36-year-old G3P0111 developed a tubo-ovarian abscess two weeks after intrauterine device (IUD) removal and then rapidly decompensated with septic shock from peritonitis due to Streptococcus constellatus infection. The patient was also newly diagnosed with diabetes and in diabetic ketoacidosis (DKA) on presentation. She received broad-spectrum antibiotic coverage and required two exploratory surgical procedures to obtain source control. Two Interventional Radiology- (IR-) guided drainage procedures were subsequently performed to drain remaining fluid collections. Her recovery involved a prolonged ICU stay. On hospital day seventy-three, after receiving approximately 8 weeks of antibiotics and the above noted procedures the patient was discharged to a subacute rehabilitation facility.
Conclusion:

Streptococcus constellatus is a highly pathogenic organism once a systemic septic infection has become established that can cause an ascending genital tract infection resulting in tubo-ovarian abscess formation, peritonitis, and septic shock.
Interests and Strengths in Autism, Useful but Misunderstood: A Pragmatic Case-Study
Authors: Valérie Courchesne, Véronique Langlois, Pascale Gregoire, Ariane St-Denis, Lucie Bouvet, Alexia Ostrolenk, Laurent Mottron
Journal: Front Psychol (2020)
Keywords: absolute pitch, adolescent, autism, calendar calculation, case-study, interests, intervention, strengths

Background:
Studies on autistic strengths are often focused on what they reveal about autistic intelligence and, in some cases, exceptional and atypical reasoning abilities. An emerging research trend has demonstrated how interests and strengths often evident in autism can be harnessed in interventions to promote the well-being, adaptive, academic and professional success of autistic people. However, abilities in certain domains may be accompanied by major limitations in others, as well as psychiatric and behavioral issues, which may challenge their inclusion in support programs.
Objectives:
To provide an in-depth, pragmatic, real-life example of the psychological and psychiatric management of interests and strengths in an autistic adolescent.
Method:
An autistic teenager, C.A., with above-average calendar calculation and musical abilities, received psychiatric, neuropsychological, and language standardized and clinical assessments, combined with a measurement of his musical and calendar calculation abilities. C.A. and his parents then received psychiatric and psychological support over a 14-month period, targeting their perceptions of C.A.'s interests, strengths, and co-occurring difficulties.
Results:
C.A. had a verbal IQ within the intellectual disability range and a non-verbal IQ in the low mean range. Modest calendar calculation, absolute pitch, and matrix abilities coexisted with severe receptive and expressive language disorder. The discrepancy between his abilities in areas of strengths and his limitations in other domains led to anxiety, frustration, and sometimes behavioral issues. Displacing the focus from academic performance to interests, as well as promoting the use of his strengths to develop new skills independently of their short-term adaptive benefits yielded positive effects on C.A.'s self-assessment, quality of life, and behavior at follow up.
Discussion:
The appealing idea that abilities mostly found in autistic people, such as calendar calculation, can be directly harnessed into academic achievement and lead to paid employment may have detrimental effects, especially when such abilities are modest and associated with other limitations. These abilities should be primarily used to maximize well-being and quality of life, independently of their short-term adaptive function, which may or may not be positive.
Acute Paraplegia as a Presentation of Aortic Saddle Embolism
Authors: Lisandro Irizarry, Anton Wray, Kim Guishard
Journal: Case Rep Emerg Med (2016)

Background. Acute onset paraplegia has a myriad of causes most often of a nonvascular origin. Vascular etiologies are infrequent causes and most often associated with postsurgical complications. Objective. To describe the occurrence and possible mechanism for aortic saddle embolism as a rare cause of acute paraplegia. Case Report. Described is a case of a 46-year-old female who presented with the sudden onset of nontraumatic low back pain with rapidly progressive paraplegia which was subsequently determined to be of vascular origin.
Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene
Authors: Yoko Nakajima, Judith Meijer, Chunhua Zhang, Xu Wang, Tomomi Kondo, Tetsuya Ito, Doreen Dobritzsch, André B P Van Kuilenburg
Journal: Int J Mol Sci (2016)
Keywords: dpys, dihydropyrimidinase, minigene, splicing
MeSH terms: Alternative Splicing, Amidohydrolases / chemistry, Metabolism, Inborn Errors / genetics, Mutation, RNA Precursors / genetics, Case Reports, Amidohydrolases / genetics, Amidohydrolases / metabolism, Base Sequence, Catalytic Domain, Child, Exons, Female, Gene Expression, Genetic Vectors / chemistry, Genetic Vectors / metabolism, HEK293 Cells, Heterozygote, Humans, Infant, Introns, Metabolism, Inborn Errors / enzymology, Metabolism, Inborn Errors / pathology, Models, Molecular, Molecular Sequence Data, Protein Structure, Secondary, RNA Precursors / metabolism, Recombinant Proteins / chemistry, Recombinant Proteins / genetics, Recombinant Proteins / metabolism, Sequence Alignment, RNA Precursors, Recombinant Proteins, Amidohydrolases, dihydropyrimidinase, Dihydropyrimidinase Deficiency

Dihydropyrimidinase (DHP) deficiency is an autosomal recessive disease caused by mutations in the DPYS gene. Patients present with highly elevated levels of dihydrouracil and dihydrothymine in their urine, blood and cerebrospinal fluid. The analysis of the effect of mutations in DPYS on pre-mRNA splicing is hampered by the fact that DHP is primarily expressed in liver and kidney cells. The minigene approach can detect mRNA splicing aberrations using cells that do not express the endogenous mRNA. We have used a minigene-based approach to analyze the effects of a presumptive pre-mRNA splicing mutation in two newly identified Chinese pediatric patients with DHP deficiency. Mutation analysis of DPYS showed that both patients were compound heterozygous for a novel intronic mutation c.1443+5G>A in intron 8 and a previously described missense mutation c.1001A>G (p.Q334R) in exon 6. Wild-type and the mutated minigene constructs, containing exons 7, 8 and 9 of DPYS, yielded different splicing products after expression in HEK293 cells. The c.1443+5G>A mutation resulted in altered pre-mRNA splicing of the DPYS minigene construct with full skipping of exon 8. Analysis of the DHP crystal structure showed that the deletion of exon 8 severely affects folding, stability and homooligomerization of the enzyme as well as disruption of the catalytic site. Thus, the analysis suggests that the c.1443+5G>A mutation results in aberrant splicing of the pre-mRNA encoding DHP, underlying the DHP deficiency in two unrelated Chinese patients.
Novel Approach for Endoscopic Management of Duodenal Injury during Perirenal Infected Haematoma Drainage after Shock-Wave Lithotripsy
Authors: Nariman Gadzhiev, Dmitry Gorelov, Alexander Smirnov, Salman Al-Shukri, Sergei Petrov
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Background. Gaining percutaneous access during percutaneous nephrolithotomy (PNL) can be complicated with the bowel injury. We report a novel approach of management of duodenal injury complicating percutaneous drainage of infected haematoma after Shock-Wave Lithotripsy (SWL). Case Presentation. A 57-year-old patient with the 15 mm right pelvic kidney stone underwent uneventful SWL. Patient visited emergency department 3 days later with high fever and chills with severe right flank pain. CT urography revealed lower pole kidney injury with signs of infected hematoma due to low attenuation areas but without signs of obstruction or urine leakage. Infected haematoma was drained percutaneously under ultrasound and X-ray control and a pigtail catheter 10 Fr was left beneath the lower pole of the right kidney. Postoperatively duodenal injury was suspected due to amber color, low creatinine, and high bilirubin level in the drainage output. CT demonstrated that the pigtail of the drain had entered the second part of the duodenum. Catheter was withdrawn and defect of the duodenal wall was stapled with four staples endoscopically. After 2 days of fasting patient was allowed to start oral food intake and was discharged on the 5th day. Conclusion. Injury of the duodenum during percutaneous kidney manipulation is an extremely rare complication. Conservative management consisting of endoscopic stapling of the duodenal wall defect is a safe and feasible approach to expediting the recovery of the patient.
Laparoscopic Nephrectomy with Adrenalectomy for Synchronous Adrenal Myelolipoma and Renal Cell Carcinoma
Authors: Kallappan Senthil, Manickam Ramalingam, Karpagam Janardhan, Anandan Murugesan, Mizar Ganapathy Pai
Journal: Case Rep Urol (2015)

Introduction. Adrenal myelolipomas are uncommon nonfunctioning tumors of the adrenal. Synchronous renal cell carcinomas with adrenal myelolipomas are very rare. We present the case report of adrenal myelolipoma with synchronous RCC managed laparoscopically. Case Report. A 60-year-old old gentleman presented with incidental right upper polar mass with right adrenal mass. Metastatic work-up was negative. Laparoscopic radical nephrectomy with adrenalectomy was done under general anesthesia. The biopsy report was right kidney clear cell adenocarcinoma (T1b) with right adrenal myelolipoma. Conclusion. This is the first case report of laparoscopic adrenalectomy with nephrectomy for ipsilateral synchronous renal cell carcinoma with adrenal myelolipoma.