OpenMed/multicare-articles huggingface dataset:
Association Between DPP-4 Inhibitors and Events of Colorectal and Liver Cancers in Patients With Diabetes Receiving Second-Line Agents: A Nested Case-Control Study
Authors: Chu-Lin Chou, Shu-Hui Juan, Ching-Hao Li, Hsi-Hsien Chen, Chih-Chin Kao, Li-Ying Chen, Li-Nien Chien, Te-Chao Fang
Journal: Front Oncol (2022)
Keywords: dpp-4 inhibitors, colorectal cancer, liver cancer, second-line agents, type 2 diabetes mellitus

Objective:
Plasma dipeptidyl peptidase-4 (DPP4) levels were significantly lower in patients with colorectal and liver cancers, and animal studies also showed DPP4 inhibitors (DPP4is) have procarcinogenic effects in colorectal cancer. Until now, whether DPP4is therapy affects the progression of liver cancer and colorectal cancer in patients with T2DM has not been well investigated. We investigated the association between cumulative defined daily dose (cDDD) of DPP4is exposure and risks of liver and colorectal cancers in patients with type 2 diabetes.
Materials and methods:
We identified 268,520 patients with diabetes receiving DPP4is as second-line agents between March 1, 2009, and December 31, 2013, from Taiwan's National Health Insurance Research Database, Taiwan Cancer Registry, and National Death Registry of Taiwan. The amount of DPP4is were divided into three groups (low, medium, and high) based on the interquartile range of the cDDD of the DPP4is.
Results:
The data showed that the low cDDD of DPP-4is was associated with a reducing risk of colorectal cancer [adjusted odds ratio (OR), 0.49; 95% CI, 0.32-0.75; P=0.001]. However, the high cDDD of DPP-4is was associated with an increasing risk of colorectal cancer (adjusted OR, 1.86; 95% CI, 1.32-2.61; P<0.001). No association between DPP4is use and liver cancer risk was observed.
Conclusions:
This nested case study revealed a J-shaped association between the cDDD of DPP-4is and colorectal cancer risk, but not liver cancer risk. Therefore, the effects of long-term DPP4is use on colorectal cancer risk warrant further study.
Early Experience with Biobranetm for Definitive Coverage of Tangentially Excised Partial-Thickness Thermal Burns
Authors: Christopher Wei Guang Ho, Jia Le See, Shi-Hui Yang, Bien Keem Tan
Journal: World J Plast Surg (2021)
Keywords: biobrane, burns excision, partial-thickness burns, skin substitute, wound healing
MeSH terms: Case Reports

BiobraneTM is a popular biosynthetic semi-permeable skin substitute conventionally applied onto non-excised partial thickness burn wounds to facilitate healing. The use of BiobraneTM for definitive coverage after excision of partial-thickness thermal burns has not been reported. We highlighted our experience of immediate BiobraneTM application for definitive coverage of tangentially-excised partial thickness thermal burn wounds in four patients. This technique is safe and efficient, minimizes painful and costly dressing changes, avoids the complications associated with autologous skin grafting, and eliminates the unpredictability of burns wound conversion. We believe this method expands the indications for BiobraneTM usage, accelerates wound healing, and provides better aesthetic outcomes.
Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient
Authors: Francesca Conti, Arianna Catelli, Cristina Cifaldi, Lucia Leonardi, Rita Mulè, Marco Fusconi, Vittorio Stefoni, Maria Chiriaco, Beatrice Rivalta, Silvia Di Cesare, Gioacchino Schifino, Fabiana Sbrega, Gigliola Di Matteo, Simona Ferrari, Caterina Cancrini, Andrea Pession
Journal: Front Pediatr (2021)
Keywords: apds2, ifn-signature, pi3k signaling, pik3r1, immunodeficiency, lymphoma, refractory sle
MeSH terms: Case Reports

Introduction: Activated phosphoinositide 3-kinase-δ syndrome 2 (APDS2) is a rare primary immune regulatory disorder caused by heterozygous gain of function mutation in the PIK3R1 gene encoding PI3Kδ regulatory p85α subunit and resulting in PI3Kδ hyperactivation. Clinical features range from recurrent infections to manifestations of immune dysregulation like autoimmunity, inflammation, systemic lymphoproliferation, and increased risk of cancer. We describe a new dominant PIK3R1 mutation causing APDS2 presenting with lymphoma and systemic refractory autoimmunity. Case Presentation: A 30-year-old woman was referred to the Immunology Unit of our hospital for uncontrolled systemic lupus erythematosus, including chilblains lesions, systemic lymphoproliferation and IgA deficiency. At 19 years of age, she was diagnosed with Hodgkin's lymphoma. Subsequently, she presented systemic lupus erythematosus onset, with episodes of severe exacerbation, including autoimmune hemolytic anemia and pleuro-pericarditis. Initial clinical response to conventional treatments was reported. Immunological investigations performed during our first observation showed severe lymphopenia, IgA deficiency, elevated IgM with reduced IgG2 levels, and low vaccination antibody titers. Quantitative real-time polymerase chain reaction (PCR) assay for Cytomegalovirus and Epstein-Barr virus showed low viral loads for both viruses in serum. An increase of serum inflammatory markers highlighted persistent systemic hyperinflammation. The next-generation sequencing (NGS)-based gene panel tests for primary immunodeficiency showed a heterozygous A>G substitution in the splice acceptor site at c.1300-2 position of PIK3R1, leading to exon-skipping. Conclusion: This case emphasizes the importance of suspecting primary immune regulatory disorders in young adults, predominantly showing a severe, aggressive, and refractory to treatment immune dysregulation phenotype, even in the absence of major infectious diseases at the onset. Different treatments can be promptly started, and a delayed diagnosis can highly impact the outcome. Targeted therapy against PI3Kδ pathway defect effectively improves drug-resistant autoimmunity, lymphoproliferation, and risk of progression to malignancy; eligible patients could benefit from its use even as a bridge therapy to transplantation, currently the only definitive curative treatment. Therefore, identifying genetic mutation and prompt targeted treatment are essential to control disease manifestations, prevent long-term sequelae, and enable curative HSCT in APDS2 patients.
Spontaneous Resolution of Symptomatic Hepatic Sarcoidosis
Authors: Viva Nguyen, Henry Ngo, Henry N Ngo, Hamza H Awad
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Sarcoidosis is an inflammatory process of unknown etiology, characterized by noncaseating granulomas. Isolated extrapulmonary disease is rare. We present a case of a 60-year-old woman with chronically elevated alkaline phosphatase. Upon obtaining a liver biopsy, granulomatous hepatitis was observed, suggestive of sarcoidosis. No particular treatment was initiated, and 3 years following the onset of elevated alkaline phosphatase, her levels decreased spontaneously.
Solitary Intrathyroid Metastasis Occurring 23 Years after Resection of Renal Cell Carcinoma
Authors: X Vandemergel
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

A case of solitary intrathyroid metastasis is described in a 60-year-old male patient. He had a history of renal cell carcinoma classified as T1b resected 23 years earlier. A mass was palpable in the right thyroid lobe. Ultrasound showed a hypoechoic polylobular nodule with intense vascularisation in the right lobe. Fine needle aspiration cytology was normal, but thyroidectomy was performed due to mass enlargement, the ultrasound pattern, and the oncological history. Histological examination revealed the presence of an intrathyroid metastasis of renal cell carcinoma. The bone scan and thoracoabdominal CT scan were normal. Postoperative care was uneventful.
Postpartum Hypernatremia with Extrapontine Rhabdomyelinolysis: A Case Report
Authors: Garima Choudhary, Faisal Qureshi, Anka Arora, Nikhil Kothari, Sarbesh Tiwari, Pradeep Bhatia
Journal: Qatar Med J (2022)
Keywords: postpartum, extrapontine, flaccid paralysis, hypernatremia, osmotic demyelination syndrome, pregnancy

Hypernatremia (serum sodium>160 meq/L) present with diverse neurological manifestations, ranging from flaccid paralysis to impaired cognition, encephalopathy, and even deep coma. Osmotic demyelination refers to changes in brain cells because of an acute change in plasma osmolality. It is further divided into two types, i.e., central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM). Patients with EPM, besides spasticity, may also present with other movement disorders such as catatonia, parkinsonism, and dystonia. We present a case of a postpartum woman bought to the emergency department by her relatives in an unconscious state. In view of poor sensorium (Glasgow coma scale < 7), she was intubated and received mechanical ventilatory support. On admission, computed tomography ofthebrain was normal, and the patient was transferred to the intensive care unit (ICU) for further management. The preliminary work-up in the ICU showed hypernatremia (serum sodium of 182 mEq/L) with hyper-osmolality (359 mOsm/kgH2O). She was managed as per the ICU protocol for hypernatremia. During her ICU stay, her sensorium improved, but she developed flaccid paralysis and was quadriplegic. Thus, a tracheostomy was performed, and she was weaned from the ventilator. After ventilator weaning, she was transferred to the ward for further rehabilitation. During rehabilitation, the patient was able to sit and takefoodorally.To date, only a few cases are reported in postpartum women with acute severe hypernatremia caused by high-grade fever and loss of body fluids leading to extra-pontine demyelination and flaccid paralysis. This case highlightsthat prompt recognition and appropriate intervention can improve the outcomes in these patients.
Anti-inflammatory effects of ruxolitinib on chronic neutrophilic leukemia harboring CSF3R- T618I mutation with bilateral renal abscesses
Authors: Naohi Sahara, Kazuaki Yokoyama, Takashi Matsunaga, Shinsuke Kitahara, Tomoki Fujii, Seiichiro Kobayashi, Nozomi Yusa, Eigo Shimizu, Seiya Imoto, Arinobu Tojo, Nobuhiro Ohno
Journal: Leuk Res Rep (2022)
Keywords: bilateral renal abscesses, csf3r-t618i mutation, chronic neutrophilic leukemia, ruxolitinib
MeSH terms: Case Reports

Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm (MPN) characterized by sustained mature neutrophilic leukocytosis. Recently, presence of colony-stimulating factor 3 receptor (CSF3R) mutations has been added to the diagnostic criteria for CNL. Anti-inflammatory effects of the JAK1/2 inhibitor ruxolitinib relieve constitutional symptoms associated with MPN, such as fatigue, night sweats, and fever. We present a case of CNL harboring CSF3R-T618I mutation exacerbated by concomitant bilateral renal abscesses, which was refractory to antibiotics, at the time of initial diagnosis. In this case, ruxolitinib rapidly improved not only CNL but the infection, due to its anti-inflammatory potency.
Coexistence of vulvar dowling-degos disease and seborrhoeic keratosis
Authors: R Guedes, Luiz Leite
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Dowling-Degos disease is a rare autosomal dominant inherited pigmentary disorder, mostly confined to the flexures. Diagnosis is established based on the clinical and histopathological correlation. The authors describe the clinical case of a female patient with vulvar involvement and multiple seborrhoeic keratoses on her face, neck, and upper trunk. Major and minor clinical manifestations of Dowling-Degos disease are discussed, with particular emphasis on the genital location of the lesions, which is a rare finding. Also the presence of seborrhoeic keratosis is discussed as a coincidence or a true-associated phenomenon.
Injury of the Deep Branch of the Ulnar Nerve: A Sonographic Diagnosis
Authors: Lorthioir Félicie, Clermont Didier, Gudelj Maxime
Journal: J Belg Soc Radiol (2023)
Keywords: deep branch of the ulnar nerve, ulnar-palmar wrist region, ultrasonography
MeSH terms: Case Reports

Teaching Point: The ulnar-palmar wrist region has a unique anatomy with some specific pathologies, easily assessed with high-frequency ultrasound.
Refractory invasive aspergillosis controlled with posaconazole and pulmonary surgery in a patient with chronic granulomatous disease: case report
Authors: Eda Kepenekli, Ahmet Soysal, Canan Kuzdan, Nezih Onur Ermerak, Mustafa Yüksel, Mustafa Bakır
Journal: Ital J Pediatr (2014)
MeSH terms: Antifungal Agents / therapeutic use, Aspergillosis / therapy, Granulomatous Disease, Chronic / therapy, Immunocompromised Host, Pneumonectomy / methods, Triazoles / therapeutic use, Case Reports, Aspergillosis / diagnosis, Aspergillosis / microbiology, Child, Preschool, Diagnosis, Differential, Follow-Up Studies, Granulomatous Disease, Chronic / diagnosis, Granulomatous Disease, Chronic / microbiology, Humans, Male, Tomography, X-Ray Computed, Antifungal Agents, Triazoles, posaconazole

Invasive aspergillosis is an important cause of morbidity and mortality in immunocompromised patients. Among primary immunodefiencies, chronic granulomatous disease (CGD) has the highest prevalence of invasive fungal diseases. Voriconazole is recommended for the primary treatment of invasive aspergillosis in most patients. In patients whose aspergillosis is refractory to voriconazole, therapeutic options include changing class of antifungal, for example using an amphotericin B formulation, an echinocandin, combination therapy, or further use of azoles. Posaconazole is a triazole derivative which is effective in Aspergillosis prophylaxis and treatment. Rarely, surgical therapy may be needed in some patients. Lesions those are contiguous with the great vessels or the pericardium, single cavitary lesion that cause hemoptysis, lesions invading the chest wall, aspergillosis that involves the skin and the bone are the indications for surgical therapy.Chronic granulomatous disease (CGD) is an inherited immundeficiency caused by defects in the phagocyte nicotinamide adenine dinucleotidephosphate (NADPH) oxidase complex which is mainstay of killing microorganisms. CGD is characterized by recurrent life-threatening bacterial and fungal infections and by abnormally exuberant inflammatory responses leading to granuloma formation, such as granulomatous enteritis, genitourinary obstruction, and wound dehiscence. The diagnosis is made by neutrophil function testing and the genotyping.Herein, we present a case with CGD who had invasive pulmonary aspergillosis refractory to voriconazole and liposomal amphotericine B combination therapy that was controlled with posaconazole treatment and pulmonary surgery.
Acral lentiginous melanoma: a case control study and guidelines update
Authors: Christoforos Kosmidis, Christoforos Efthimiadis, Georgios Anthimidis, Marios Grigoriou, Kalliopi Vasiliadou, Georgia Ioannidou, Fotini Makedou, Sofia Baka
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Background. Malignant melanoma incidence is increasing dramatically. We report herein a case of the rarest acral lentiginous type. Case Report. A 58-year-old man presented with a melanoma resembling lesion over the sole of his right foot, measuring 15-20 mm in diameter. An excisional biopsy with a narrow (2 mm) margin of surrounding skin was obtained. Histological findings were consistent with a diagnosis of acral lentiginous melanoma. Sentinel lymph node biopsy was also performed and micrometastases were not identified in frozen-section examination. According to the AJCC system, the tumor stage was IB (T2aN0M0). A wide local excision of the biopsy scar with a margin of 2 cm was performed. A split-thickness thick skin graft was used to reconstruct the excisional defect. During an 18-month followup, no local or distant recurrence has been observed. This paper aims to extract an updated rational approach to the management of this disease out of an enormous body of knowledge.
Case Report: Metagenomic Next-Generation Sequencing in Diagnosis of Disseminated Tuberculosis of an Immunocompetent Patient
Authors: Yuanting Ye, Naibin Yang, Jingying Zhou, Guoqing Qian, Jinguo Chu
Journal: Front Med (Lausanne) (2021)
Keywords: diagnosis, disseminated tuberculosis, extrapulmonary tuberculosis, immunocompetence, metagenomic next-generation sequencing
MeSH terms: Case Reports

Disseminated tuberculosis (TB) is a rare disease and mainly occurs in immunodeficient patients. It is marked by hematogenous or lymphatic dissemination of Mycobacterium tuberculosis, causing tuberculous infection involving any organ system. Here, we report a case of disseminated TB involving lung, liver, spine, mediastinum, and prostate in an immunocompetent man. The present patient found a hepatic mass without any symptom during health examination. In the next 2 years, further examinations revealed multiple lesions in the lung, mediastinum, spine, and prostate. Imaging examinations, such as contrast-enhanced abdominal CT, F-18 FDG-PET/CT, and radionuclide bone scan, suggested the diagnosis of malignancy or metastatic tumor. Furthermore, histopathological results of the biopsies of the hepatic mass, mediastinal mass, and prostatic mass demonstrated granulomatous inflammation. Therefore, metagenomic next-generation sequencing (mNGS) was utilized to confirm the diagnosis. Mycobacterium tuberculosis complex was simultaneously detected in the spinal surgical resection specimens and bronchoalveolar lavage fluid (BALF), indicating the diagnosis of disseminated TB. mNGS is an emerging molecular diagnostic technology, and its application in disseminated TB has been rarely reported. We highlight that disseminated TB should be considered even in an immunocompetent patient, and mNGS can be performed when the diagnosis is difficult.
Ankylosing spondylitis associated with Sweet's syndrome: a case report
Authors: Samia Mansouri, Fatima Ezzahra Abourazzak, Nassira Aradoini, Asmae Bettioui, Maryam Fourtassi, Latifa Tahiri, Fatima Zahra Mernissi, Siham Tizniti, Taoufik Harzy
Journal: J Med Case Rep (2013)

Introduction:
Sweet's syndrome is an acute neutrophilic dermatosis characterized by a diffuse dermal infiltrate of mature neutrophils. In most cases, it occurs as an isolated phenomenon (idiopathic Sweet's syndrome) but it can be drug induced or associated with a variety of underlying diseases such as infections, neoplasms, and chronic inflammatory diseases. The association between Sweet's syndrome and ankylosing spondylitis is rare. Only a few cases have been reported in the literature. We report a new case in which we describe an outbreak of acute neutrophilic dermatosis revealing ankylosing spondylitis.
Case presentation:
A 33-year-old Moroccan man presented with large-joint polyarthralgia, inflammatory pain in his buttocks and lower lumbar spine, fever and skin lesions. On examination, the patient had a low-grade fever, six tender but not swollen joints, limitation of motion of the lumbar spine, and painful erythematous maculopapules over his face, neck, and hands. Laboratory tests showed hyperleukocytosis, and elevated erythrocyte sedimentation rate and C-reactive protein. The immunological tests and infectious disease markers were negative. Investigations for an underlying neoplastic disease remained negative. Magnetic resonance imaging showed a bilateral sacroiliitis. Skin biopsy findings were consistent with Sweet's syndrome. The diagnosis of Sweet's syndrome associated with ankylosing spondylitis was established. Nonsteroid anti-inflammatory drugs were started and the patient showed rapid clinical and biological improvement.
Conclusion:
Three observations of the association between Sweet's syndrome and spondylarthropathy have been reported in the literature. The cause of this association remains unclear. Some hypotheses have been developed, but further studies are needed to confirm or refute them.
Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene
Authors: J G Maring, A B P van Kuilenburg, J Haasjes, H Piersma, H J M Groen, D R A Uges, A H Van Gennip, E G E De Vries
Journal: Br J Cancer (2002)
MeSH terms: Antimetabolites, Antineoplastic / adverse effects, Antimetabolites, Antineoplastic / pharmacokinetics, DNA, Neoplasm / genetics, Fluorouracil / adverse effects, Fluorouracil / pharmacokinetics, Oxidoreductases / pharmacology, Point Mutation, Case Reports, Aged, Alleles, Chromatography, High Pressure Liquid, Colorectal Neoplasms / drug therapy, Dihydrouracil Dehydrogenase (NADP), Female, Humans, Leucovorin / administration & dosage, Male, Middle Aged, Oxidoreductases / genetics, Polymerase Chain Reaction, Sequence Analysis, DNA, Antimetabolites, Antineoplastic, DNA, Neoplasm, Oxidoreductases, Dihydrouracil Dehydrogenase (NADP), Leucovorin, Fluorouracil

5-fluorouracil pharmacokinetics, dihydropyrimidine dehydrogenase-activity and DNA sequence analysis were compared between a patient with extreme 5-fluorouracil induced toxicity and six control patients with normal 5-fluorouracil related symptoms. Patients were treated for colorectal cancer and received chemotherapy consisting of leucovorin 20 mg m(-2) plus 5-fluorouracil 425 mg m(-2). Blood sampling was carried out on day 1 of the first cycle. The 5-fluorouracil area under the curve(0-->3h) in the index patient was 24.1 mg h l(-1) compared to 9.8+/-3.6 (range 5.4-15.3) mg h l(-1) in control patients. The 5-fluorouracil clearance was 520 ml min(-1) vs 1293+/-302 (range 980-1780) ml min(-1) in controls. The activity of dihydropyrimidine dehydrogenase in mononuclear cells was lower in the index patient (5.5 nmol mg h(-1)) compared to the six controls (10.3+/-1.6, range 8.0-11.7 nmol mg h(-1)). Sequence analysis of the dihydropyrimidine dehydrogenase gene revealed that the index patient was heterozygous for a IVS14+1G>A point mutation. Our results indicate that the inactivation of one dihydropyrimidine dehydrogenase allele can result in a strong reduction in 5-fluorouracil clearance, causing severe 5-fluorouracil induced toxicity.