OpenMed/multicare-articles huggingface dataset:
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families
Authors: Milen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, Eric Powell, Ioanna Konidari, William Hulme, John F Staropoli, Winnie Xin, Guang Y Wen, Rosemary Barone, Scott H Coppel, Katherine Sims, W Ted Brown, Stephan Züchner
Journal: PLoS One (2012)
MeSH terms: Genes, Dominant / genetics, HSP40 Heat-Shock Proteins / genetics, Membrane Proteins / genetics, Mutation, Neuronal Ceroid-Lipofuscinoses / genetics, Pedigree, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Adolescent, Adult, Exome / genetics, Female, Humans, Male, Middle Aged, Sequence Analysis, Young Adult, HSP40 Heat-Shock Proteins, Membrane Proteins, cysteine string protein

Background:
The Neuronal Ceroid Lipofuscinoses (NCL) comprise at least nine progressive neurodegenerative genetic disorders. Kufs disease, an adult-onset form of NCL may be recessively or dominantly inherited. Our study aimed to identify genetic mutations associated with autosomal dominant Kufs disease (ADKD).
Methodology and principal findings:
We have studied the family first reported with this phenotype in the 1970s, the Parry family. The proband had progressive psychiatric manifestations, seizures and cognitive decline starting in her mid 20 s. Similarly affected relatives were observed in seven generations. Several of the affected individuals had post-mortem neuropathological brain study confirmatory for NCL disease. We conducted whole exome sequencing of three affected family members and identified a pLeu116del mutation in the gene DNAJC5, which segregated with the disease phenotype. An additional eight unrelated affected individuals with documented autosomal dominant or sporadic inheritance were studied. All had diagnostic confirmation with neuropathological studies of brain tissue. Among them we identified an additional individual with a p.Leu115Arg mutation in DNAJC5. In addition, a pAsn477Ser change in the neighboring gene PRPF6, a gene previously found to be associated with retinitis pigmentosa, segregated with the ADKD phenotype. Interestingly, two individuals of the Parry family did report visual impairment.
Conclusions:
Our study confirmed the recently reported association of DNAJC5 mutations with ADKD in two out of nine well-defined families. Sequence changes in PRPF6 have not been identified in other unrelated cases. The association of vision impairment with the expected PRPF6 dysfunction remains possible but would need further clinical studies in order to confirm the co-segregation of the visual impairment with this sequence change.
Severe Malaria in an Adult Patient from Low-Endemic Area in Flores Island, East Nusa Tenggara
Authors: Maria Teressa, Asep Purnama, Joshua Henrina, Agustinus Wiraatmadja, Angela M B Boro, Candida I L Sam, Tersila A D Dedang, Alius Cahyadi
Journal: Case Rep Med (2023)
MeSH terms: Case Reports

Malaria is an infection caused by protozoa of the genus Plasmodium, commonly found in tropical and subtropical regions worldwide. Plasmodium falciparum causes the most severe form of the disease and may progress to life-threatening manifestations. This case describes a 26-year-old man who suffered cerebral malaria with multiple organ dysfunction and successfully recovered despite poor initial prognosis. Negligent and late diagnosis of malaria leads to severe complications and a worse prognosis. This case emphasizes despite living in a low-endemic malaria area, physicians should remain meticulous and consider malaria as differential diagnosis even after initially presenting with nonspecific symptoms. Consequently, malarial screening should be performed to modify the risk of mortality. Furthermore, close monitoring and early administration of intravenous artesunate are also particularly critical.
Molecular cytogenetic studies characterizing a novel complex karyotype with an uncommon 5q22 deletion in childhood acute myeloid leukemia
Authors: Amanda Faria de Figueiredo, Roberto Rodrigues Capela de Matos, Moneeb A K Othman, Thomas Liehr, Elaine Sobral da Costa, Marcelo Geradin Poirot Land, Raul C Ribeiro, Eliana Abdelhay, Maria Luiza Macedo Silva
Journal: Mol Cytogenet (2015)
Keywords: childhood aml, complex karyotype, uncommon deletion 5q22
MeSH terms: Case Reports

Deletions in the long arm of chromosome 5 or loss of the whole chromosome are rare in childhood Acute Myeloid Leukemia (AML) patients. It is also unknown if the wide variety of breakpoints have diverging implications in the patient's outcome. Despite -5/5q- abnormalities have usually been described as a poor prognostic feature, however, the low frequency of -5/5q- in pediatric AML patients limits a full knowledge about this cytogenetic and clinical category, which is an intriguing factor for further research and new findings. Here, we report an AML child showing an uncommon deletion in 5q associated with 2 new abnormalities involving chromosome 2 within a complex karyotype well-characterized by several molecular cytogenetic approaches. Our work stimulates upcoming studies with more detailed descriptions about 5q abnormalities to better define its role in the stratification risk of such cytogenetic subgroup in childhood AML.
Brunneroma: A Rare Cause of Duodeno-duodenal Intussusception
Authors: Aparna M Patankar, Anju M Wadhwa, Aneeta Bajaj, Amol Ingule, Prasad Wagle
Journal: Euroasian J Hepatogastroenterol (2016)
Keywords: brunner gland hamartoma, brunneroma, duodenal intussusception, duodenal polyp, endoscopic sonography, intussuscepting duodenal mass on computed tomography, submucosal duodenal lesion
MeSH terms: Case Reports

Brunner gland hamartoma (brunneroma) is a rare benign tumor of the duodenum. It is usually asymptomatic and detected incidentally by endoscopy or other imaging modality. The definitive diagnosis is based on histopathological findings. These may mimic tumors of other natures, such as gastrointestinal stromal tumors (GIST), carcinoids, lipomas, and leiomyomas. Here, we present a case of duodenal polyp presenting with abdominal pain and obstructive symptoms that caused duodenal intussusception. It was surgically removed and found to be a brunneroma on histopathology.
How to cite this article:
Patankar AM, Wadhwa AM, Bajaj A, Ingule A, Wagle P. Brunneroma: A Rare Cause of Duodeno-duodenal Intussusception. Euroasian J Hepato-Gastroenterol 2016;6(1):84-88.
Small bowel obstruction after gastric by-pass: Diagnostic limits and percutaneous drain. A paradigmatic case
Authors: Vincenzo Pilone, Mafalda Romano, Michele Renzulli, Carmen Cutolo, Salvatore Tramontano
Journal: Int J Surg Case Rep (2019)
Keywords: bariatric surgery, bowel obstruction, gastric by-pass, internal hernia, obesity

Background:
Obesity is showing a constant increase worldwide, making it the major public health problem. Bariatric surgery seems to be the best treatment for these to achieve a good excess weight loss. Gastric by-pass (GBP) is one the most important bariatric procedure, but there are a lot of complications as bowel obstruction for internal hernia, fistula and intussusception.
Case report:
We present a peculiar case report of a 53-years old woman that underwent to GBP. On the fourth postoperative day, she presented a bowel obstruction and underwent a second surgical intervention for incisional hernia. Another surgical revision was necessary because of dilatation of excluded stomach. Subsequent external drain of excluded stomach solved the paralytic ileum post bowel obstruction.
Conclusion:
Postoperative occlusion is more complex in bariatric patients, either for variety of etiology, either for choosing best approach to the new anatomy. In addition, post-surgery course may be different, because GBP may determine many modifications on gastrointestinal motility and clinical symptoms. An accurate knowledge of bariatric surgery is mandatory in these situations, obtaining the best management.
Type 2 myocardial infarction in a patient with acute abdomen due to an incarcerated Amyand's Hernia
Authors: Paulo Cabrera, Carlos Roman, Silvia Barbosa, Fabian Alvarado, Esteban Diaz, Mayerlin Martinez
Journal: Int J Surg Case Rep (2020)
Keywords: acute abdomen, amyand’s hernia, mortality, myocardial infarction, type 2 myocardial infarction
MeSH terms: Case Reports

Background:
Type 2 myocardial infarction (MIT2) is characterized by higher mortality rates compared to conventional type 1 infarction according to the European Society of Cardiology (ESC) in 2018. The purpose of this case is to identify appropriate therapeutic measures. A case of an Amyand's Hernia that produced an MIT2 is described in this work.
Case report:
A 77-year-old male was admitted to our emergency department for acute abdominal pain in the right lower quadrant associated with the presence of an ipsilateral inguinal hernia with signs of peritoneal irritation, while complaining of chest pain. A positive troponin indicated the presence of myocardial infarction. A laparotomy was performed with the finding of an incarcerated right inguino-scrotal hernia that contained the gangrenous and perforated cecal appendix (Amyand hernia type 3). The treatment consisted of surgical correction of the hernia, an appendectomy, antibiotics and support in the intensive care unit with a positive outcome. The diagnosis of Amyand hernia type 3 was established intraoperatively, and by imaging, confirming the presence of an MIT2 according to the criteria of the fourth definition of ECS infarction.
Conclusion:
In the surgical environment it is strange to find patients who present with acute abdominal pain and a myocardial infarction at the same time. It is necessary for the consultant to recognize these two entities to make a correct diagnosis and provide timely treatment to reduce any possibility of patient mortality.
Targeting IL-6 Is a Potential Treatment for Primary Cystic Craniopharyngioma
Authors: Sydney Grob, David M Mirsky, Andrew M Donson, Nathan Dahl, Nicholas K Foreman, Lindsey M Hoffman, Todd C Hankinson, Jean M Mulcahy Levy
Journal: Front Oncol (2019)
Keywords: il-6, bevacizumab, craniopharyngioma, pediatric, tocilizumab
MeSH terms: Case Reports

Adamantinomatous craniopharyngioma (ACP) makes up between 6 and 8% of pediatric brain tumors and is the most common pediatric tumor arising in the sellar/suprasellar region of the brain. The 10-year survival for patients diagnosed with craniopharyngioma ranges between 64 and 92%, but complicating factors such as location, common cyst formation, and potential hypothalamic infiltration cause significant morbidity in this population. There are a number of therapeutic options for children with ACP, including surgery, radiation, and cyst directed therapies such as interferon and bleomycin. Research has raised concerns regarding the efficacy and side effects associated with these conventional therapies, as well as with the difficulty in treating recurrent cystic ACP. Evidence from our group and others has shown that the cystic and solid tumor components of craniopharyngioma have high levels of IL-6R and IL-6, providing a potential target for therapy. Tocilizumab, a humanized monoclonal antibody, acts against soluble and membrane bound IL-6R, and has been widely utilized in pediatric patients. Two patients with recurrent cystic ACP were offered systemically administered tocilizumab or a combination of tocilizumab and bevacizumab on a compassionate use basis. Both patients' tumors had a significant response, with decreased cyst burden, supporting the assertion that tocilizumab with or without bevacizumab may be an option for patients suffering from cystic ACP.
Case Report: Response With Immunotherapy in a Patient With Mixed Neuroendocrine Non-Neuroendocrine Neoplasms of the Gallbladder
Authors: Chao Liu, Xiangwei Hua, Zhen Yang, Yuan Guo, Liqun Wu, Jinzhen Cai, Ling Li, Yaxuan Zhang, Ning Fan
Journal: Front Oncol (2021)
Keywords: minens, a pd-1 inhibitor, case report, gallbladder, sintilimab
MeSH terms: Case Reports

Background:
Primary neuroendocrine tumors of the gallbladder (GB-NETs) are rare, accounting for 2% of all gallbladder cancers. Among GB-NETs, mixed neuroendocrine non-neuroendocrine neoplasms of the gallbladder (GB-MiNENs) are sporadic.
Case presentation:
A 56-year-old woman admitted to our hospital due to right upper abdominal pain of 3 days duration. She underwent positron emission tomography/computed tomography, which showed multiple metastatic tumors and was unsuitable for operation. Initially, the patient was diagnosed with gallbladder adenocarcinoma. She underwent PD-1 inhibitor or combined with chemotherapy considering the PD-L1 high positive score. In the latter, the patient has the opportunity of surgery, and the new diagnosis was MiNENs. She achieved long-term disease control and has been alive from the first diagnosis.
Conclusion:
This case might support the strategy that PD-1 inhibitor could provide a feasible treatment option for MiNENs of gallbladder patients with the positive expression of PD-L1 in the future.
The Diagnostic Challenge of an Infrequent Spectrum of Cryptococcus Infection
Authors: Francisco Barbosa De Araujo Neto, Camila Corona De Godoy Bueno, Liege Tambelini Gomes, Daniela Alejandra Ortiz Navas, Mark Wanderley, Stefanie Gallotti Borges Carneiro, Rita Karine Veras Gomes De Mello, Laura Mendes Coura, Larissa Sayuri Missumi, Henrique Durante, Ricardo Francisco Cintra Zagatti, Márcio Valente Yamada Sawamura
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

Cryptococcal infection results from inhalation of fungal spores and usually is confined to the lungs, but may disseminate systemically. Radiologically, cryptococcal infection has multiple forms of presentation. The diagnosis is usually based on fungal isolation from cultured clinical specimens. Long term antifungal therapy is recommended, but surgical procedures may eventually be necessary when large thoracic symptomatic masses are present. We report a case of a 41-year-old male, immunocompetent, investigating a palpable mass in the left supraclavicular region associated with unintentional weight loss over the last three months. He also reported chest pain in this period. Chest X-ray, ultrasonography, and computed tomography were performed, which diagnosed a mediastinal and left supraclavicular mass, interpreted as lymph node conglomerates of unknown etiology. He also underwent a biopsy of the left supraclavicular mass for etiological determination by histopathology, which confirmed cryptococcosis infection. Although very infrequent, mediastinal cryptococcal infection (simulating masses) is a challenging but important differential diagnosis of benign and malignant lesions, since its treatment is usually clinical.
An approach to localizing corneal pain representation in human primary somatosensory cortex
Authors: Eric A Moulton, Lino Becerra, Perry Rosenthal, David Borsook
Journal: PLoS One (2012)
MeSH terms: Cornea / physiopathology, Pain Perception / physiology, Somatosensory Cortex / physiology, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Brain Mapping / methods, Humans, Magnetic Resonance Imaging, Neural Pathways / anatomy & histology, Neural Pathways / physiology

The cornea has been a focus of animal electrophysiological research for decades, but little is known regarding its cortical representation in the human brain. This study attempts to localize the somatotopic representation of the cornea to painful stimuli in human primary somatosensory cortex using functional magnetic resonance imaging (fMRI). In this case study, a subject was imaged at 3T while bright light was presented in a block-design, which either produced pain and blinking (during photophobia) or blinking alone (after recovery from photophobia). Pain and blinking produced precisely localized activations in primary somatosensory cortex and primary motor cortex. These results indicate that noxious stimulation of the cornea can produce somatotopic activation in primary somatosensory cortex. This finding opens future avenues of research to evaluate the relationship between corneal pain and central brain mechanisms relating to the development of chronic pain conditions, such as dry eye-like symptoms.
Ice swimming and changes in body core temperature: a case study
Authors: Beat Knechtle, Thomas Rosemann, Christoph A Rüst
Journal: Springerplus (2015)
Keywords: body fat, ice swimming, open-water swimming

Introduction:
'Ice Mile' swimming is a new discipline in open-water swimming introduced in 2009. This case study investigated changes in body core temperature during preparation for and completion of two official 'Ice Miles', defined as swimming 1.609 km in water of 5°C or colder, in one swimmer.
Case description:
One experienced ice swimmer (56 years old, 110.2 kg body mass, 1.76 m body height, BMI of 35.6 kg/m(2), 44.8% body fat) recorded data including time, distance and body core temperature from 65 training units and two 'Ice Miles'.
Discussion and evaluation:
During training and the 'Ice Miles', body core temperature was measured using a thermoelectric probe before, during and after swimming. During trainings and the 'Ice Miles', body core temperature increased after start, dropped during swimming but was lowest during recovery. During training, body core temperature at start was the only predictor (ß = -0.233, p = 0.025) for the increase in body core temperature. Water temperature (ß = 0.07, p = 0.006) and body core temperature at start (ß = -0.90, p = 0.006) explained 61% of the variance for the non-significant decrease in body core temperature. Water temperature (ß = 0.077, p = 0.0059) and body core temperature at finish (ß = 0.444, p = 0.02) were the most important predictors for the lowest body core temperature. In 'Ice Miles', body core temperature was highest ~6-18 min after the start (38.3-38.4°C), dropped during swimming by 1.7°C to ~36.5°C and was lowest ~40-56 min after finish. The lowest body core temperature (34.5-35.0°C) was achieved ~100 min after start.
Conclusions:
In an experienced ice swimmer with a high BMI (>35 kg/m(2)) and a high percent body fat (~45%), body core temperature decreased by 1.7°C while swimming and by 3.2-3.7°C after the swim to reach the lowest temperature in an official 'Ice Mile'. The swimmer suffered no hypothermia during ice swimming, but body core temperature dropped to <36°C after ice swimming. Future athletes intending to swim an 'Ice Mile' should be aware that a large body fat prevents from suffering hypothermia during ice swimming, but not after ice swimming.
Bladder Malakoplakia in Systemic Sclerosis Patient: A Case Report and Review Literature
Authors: Wichien Sirithanaphol, Sakkarn Sangkhamanon, Sittichai Netwijitpan, Chingching Foocharoen
Journal: J Endourol Case Rep (2018)
Keywords: granulomatous disease, hematuria, malakoplakia, scleroderma, systemic sclerosis
MeSH terms: Case Reports

Malakoplakia, an anecdotal reactive granulomatous lesion, is a rare pathologic entity but relatively more common in genitourinary tracts. Here we report a case of malakoplakia in the urinary bladder in systemic sclerosis. The patient was a 66-year-old female treated with long-term corticosteroid and cyclophosphamide. She presented with gross hematuria, and cystoscopy and biopsy revealed malakoplakia. There was no tumor and the stains for infectious organism were all negative. To the best of our knowledge, this is the first case report of malakoplakia in a systemic sclerosis patient.
Blue rubber bleb nevus syndrome coexisted with intestinal intussusception: a case report
Authors: Yuanjie Wang, Xiaojun Zhao, Xiaolan You
Journal: Pan Afr Med J (2014)
Keywords: blue rubber bleb nevus syndrome, gastrointestinal bleeding, intraoperative endoscopy, jejunojejunal intussusception, papule
MeSH terms: Gastrointestinal Neoplasms / complications, Intussusception / complications, Jejunal Diseases / complications, Nevus, Blue / complications, Skin Neoplasms / complications, Case Reports, Gastrointestinal Hemorrhage / complications, Gastrointestinal Hemorrhage / diagnosis, Gastrointestinal Hemorrhage / surgery, Gastrointestinal Neoplasms / diagnosis, Gastrointestinal Neoplasms / surgery, Hemangioma, Cavernous / complications, Hemangioma, Cavernous / diagnosis, Hemangioma, Cavernous / surgery, Humans, Intussusception / diagnosis, Intussusception / surgery, Jejunal Diseases / diagnosis, Jejunal Diseases / surgery, Male, Nevus, Blue / diagnosis, Nevus, Blue / surgery, Skin Neoplasms / diagnosis, Skin Neoplasms / surgery, Young Adult, Blue rubber bleb nevus syndrome

Blue Rubber Bleb Nevus Syndrome (BRBNS) is an uncommon congenital disorder characterized by sporadic venous malformation which mainly occurs in skin and alimentary canal. Here, we report a BRBNS patient with concomitant intestinal intussusception who diagnosed by intraoperative endoscopy and ultimately managed using surgical resection. A 19-year-old boy was referred to urgent surgery for acute melena and stomachache. He had used to be a long-term iron user for undiagnosed chronic anemia and papules. Abdominal CT on admission demonstrated the presence of intestinal intussusception. The following exploratory laparotomy and intraoperative endoscopy revealed multiple gastrointestinal hemangiomas. The postoperative course was uneventful and pathological examination certified multiple cavernous hemangiomas in the resected gastrointestines.
Cronkhite-Canada Syndrome: Sustained Clinical Response with Anti-TNF Therapy
Authors: S A Taylor, J Kelly, D E Loomes
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Cronkhite-Canada syndrome (CCS) is a rare, nonfamilial syndrome that occurs in the sixth to seventh decades of life. It is characterized by acquired gastrointestinal polyposis with an associated ectodermal triad, including alopecia, onchodystrophy, and hyperpigmentation. CCS is characteristically a progressive disease, with a high mortality rate despite medical interventions. Disease complications are typically secondary to severe malnutrition, malignancy, GI bleeding, and infection. CCS is believed secondary to immune dysregulation; however, the underlying etiology remains to be determined. Treatment for CCS is largely anecdotal, and randomized controlled therapeutic trials are lacking due to the rarity of the disease. Aggressive nutritional support in conjunction with immunosuppression has been used previously with inconsistent results. In this report, we describe the presentation and diagnosis of a case of CCS and report encouraging treatment response with anti-TNF therapy.