OpenMed/multicare-articles huggingface dataset:
Genome sequences of Knoxdaviesia capensis and K. proteae (Fungi: Ascomycota) from Protea trees in South Africa
Authors: Janneke Aylward, Emma T Steenkamp, Léanne L Dreyer, Francois Roets, Brenda D Wingfield, Michael J Wingfield
Journal: Stand Genomic Sci (2016)
Keywords: gondwanamycetaceae, knoxdaviesia, microascales, ophiostomatoid fungi, protea
MeSH terms: Case Reports

Two closely related ophiostomatoid fungi, Knoxdaviesia capensis and K. proteae, inhabit the fruiting structures of certain Protea species indigenous to southern Africa. Although K. capensis occurs in several Protea hosts, K. proteae is confined to P. repens. In this study, the genomes of K. capensis CBS139037 and K. proteae CBS140089 are determined. The genome of K. capensis consists of 35,537,816 bp assembled into 29 scaffolds and 7940 predicted protein-coding genes of which 6192 (77.98 %) could be functionally classified. K. proteae has a similar genome size of 35,489,142 bp that is comprised of 133 scaffolds. A total of 8173 protein-coding genes were predicted for K. proteae and 6093 (74.55 %) of these have functional annotations. The GC-content of both genomes is 52.8 %.
Dynamic Conservation in Risk Society: A Case Study of COVID-19 Pandemic Risk in Kashan Qanat Irrigated Agriculture
Authors: Mohammad Ali Manian, Korous Khoshbakht, Hossein Mahmoudi, Houman Liaghati
Journal: Front Public Health (2022)
Keywords: covid-19 pandemic, giahs, agro-biodiversity, agroecology, sustainable rural development, traditional agriculture
MeSH terms: COVID-19 / epidemiology, Ecosystem, Agriculture / methods, Humans, Iran / epidemiology, Pandemics

In the present age, the world agricultural heritage can inspire agroecology and sustainable agriculture. But various risks have threatened, eroded and forgotten this heritage, so dynamic conservation of this heritage is essential. In this study, "Qanat Irrigated Agricultural Heritage Systems, Kashan, Iran" which has been registered worldwide in the face of corona pandemic risks has been selected as a case study. In this qualitative research, in addition to field observations and documentary studies, 25 in-depth interviews and 39 semi-structured interviews with experts and key informants was done and grounded theory and content analysis have been used. In the process of interviews and analyzes based on "risk society theory", risks and wicked problems and related solutions have been identified and finally based on cultural theory, "clumsy solution space" has been summarized and presented for dynamic conservation. Based on the findings of this study, paying attention to a kind of reward for ecosystem services, developing online sales of agricultural products in rural areas of Kashan and also creating twinning with similar areas can help solve wicked problems. Also, paying more attention to the regulations for the protection of qanats, as well as the laws for home business insurance, can strengthen sustainable development in this rural area. Due to the wide range of different dimensions of agricultural heritage, it is suggested that in future research, clumsy solution spaces for each of these dimensions be created and developed separately.
Case Report: Intramural colonic signet ring cell carcinoma presenting as intestinal pseudo-obstruction: A case presentation and review of the literature
Authors: Yuxia Li, Genmei He, Ruqin Zhong, Xuejuan Li, Huamei Li, Huaqiong Dong, Yun Zhang, Guohong Zhao, Leilei Fang
Journal: Front Oncol (2023)
Keywords: colorectal cancer, incomplete bowel obstruction, laparoscopicright hemicolon carcinoma radical resection, prognosis, signet ring cell carcinoma
MeSH terms: Case Reports

Colorectal cancer (CRC) is the third most common cancer in the world. Other than adenocarcinomas, exceptional tumors of the colon and rectum represent a neglected clinical issue due to their rarity. Signet ring cell carcinoma (SRCC) is a rare subtype of CRC and has an extremely poor prognosis due to its advanced stage at diagnosis. Here we report a rare case of colorectal SRCC manifested as recurrent intestinal obstruction with a negative colonoscopy. Finally, he was diagnosed with signet ring cell carcinoma of the colon by postoperative pathology. It emphasized the special feature of intramural tumor growth without penetrating the mucosa in SRCC, which requires timely surgical intervention to avoid delay in diagnosis and treatment.
Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review
Authors: Bijun Sun, Qifan Li, Xiaolong Dong, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Haili Yao, Jinqiao Sun, Xiaochuan Wang
Journal: Front Genet (2022)
Keywords: g6pd gene, nf-κb pathway, ros, chromosome inactivation, infection

Purpose: Severe glucose-6-phosphate dehydrogenase (G6PD) deficiency can lead to reduced nicotinamide adenine dinucleotide phosphate oxidase activity in phagocytes, resulting in immunodeficiency, with a limited number of reported cases. Here, we aimed to report a child with severe G6PD deficiency in China and investigate the mechanism of his recurrent infections. Methods: The clinical manifestations and immunological phenotypes of this patient were retrospectively collected. Gene mutation was detected by whole-exome sequencing and confirmed by Sanger sequencing. Dihydrorhodamine (DHR) analysis was performed to measure the respiratory burst of neutrophils. Messenger ribonucleic acid and protein levels were detected in the patient under lipopolysaccharide stimulation by real-time quantitative reverse transcription polymerase chain reaction and Western blot. A review of the literature was performed. Results: A male child with G6PD deficiency presented with recurrent respiratory infections, Epstein‒Barr virus infection and tonsillitis from 8 months of age. Gene testing revealed that the proband had one hemizygous mutation in the G6PD gene (c.496 C>T, p. R166C), inherited from his mother. This mutation might affect hydrophobic binding, and the G6PD enzyme activity of the patient was 0. The stimulation indexes of the neutrophils in the patient and mother were 22 and 37, respectively. Compared with healthy controls, decreased reactive oxygen species (ROS) production was observed in the patient. Activation of nuclear factor kappa-B (NF-κB) signaling was found to be influenced, and the synthesis of tumor necrosis factor alpha (TNF-α) was downregulated in the patient-derived cells. In neutrophils of his mother, 74.71% of the X chromosome carrying the mutated gene was inactivated. By performing a systematic literature review, an additional 15 patients with severe G6PD deficiency and recurrent infections were identified. Four other G6PD gene mutations have been reported, including c.1157T>A, c.180_182del, c.514C>T, and c.953_976del. Conclusion: Severe G6PD deficiency, not only class I but also class II, can contribute to a chronic granulomatous disease-like phenotype. Decreased reactive oxygen species synthesis led to decreased activation of the NF-κB pathway in G6PD-deficient patients. Children with severe G6PD deficiency should be aware of immunodeficiency disease, and the DHR assay is recommended to evaluate neutrophil function for early identification.
Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome
Authors: Marte G Haug, Atle Brendehaug, Gunnar Houge, Masayo Kagami, Tsutomu Ogata
Journal: Clin Case Rep (2017)
Keywords: kagami–ogata syndrome, mild phenotype, mosaicism, upd(14)pat
MeSH terms: Case Reports

We report a Norwegian girl with mild clinical features of Kagami-Ogata syndrome (KOS) and mosaic upd(14)pat. To our knowledge, this is the first report describing a mosaic patient with KOS. These results imply that mosaic uniparental disomy should be examined in patients with mild features of imprinted disorders.
Surgical management of acute distal biceps tendon rupture associated with contralateral radial palsy
Authors: Badr Ennaciri, Emmanuel Beaudouin, Mustapha Mahfoud, Mohamed Saleh Berrada, Eric Montbarbon
Journal: Pan Afr Med J (2015)
Keywords: distal biceps tendon, supination strength, trans-osseous anchoring
MeSH terms: Radial Neuropathy / etiology, Rupture / surgery, Tendon Injuries / surgery, Case Reports, Humans, Male, Middle Aged, Orthopedic Procedures / methods, Quality of Life, Tendon Injuries / pathology

Acute distal biceps tendon rupture constitute a rare lesion of biceps injuries, typically, easy to diagnosis after lifting a heavy object. Treatment is controversial, nonoperative for sedentary and elderly patients; surgical for young and active individuals. Many operative techniques are described, they all aim to restore an excellent strength of flexion and supination. We opted for one-incision method and fixation using trans-osseous anchoring for our patient, because we are convinced that is a simpler and safer technique. Postoperative rehabilitation, after a period of elbow immobilization, must be operated for returning to full activity. Biceps tendon repair has permitted to our patient who suffer from right upper limb handicap due to radial nerve palsy, recuperating the lost strength and force in his dominant limb and maintaining some quality of life.
A New Presentation: Aphallia, Vesicoureteral Reflux, Rectovesical Fistula, and Adrenal Insufficiency
Authors: R El Qadiry, A Lalaoui, H Nassih, A Bourrahouat, I Ait Sab
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Aphallia or penile agenesis is a rare congenital malformation with an estimated incidence rate of 1 in 10 to 30 million births. More than half of aphallia cases have associated anomalies including caudal axis, cardiovascular, genitourinary, and gastrointestinal anomalies. The penile agenesis associated with adrenal insufficiency has never been reported in an infant. We report a rare case of a newborn that was diagnosed as a case of aphallia with vesicorectal fistula and vesicoureteral reflux, complicated by adrenal insufficiency with salt-wasting crisis.
Metastatic testicular retroperitoneal teratoma in an adult: Case report
Authors: Hanan M Alghamdi
Journal: Int J Surg Case Rep (2019)
Keywords: germ cell tumor, ovarian tumors, retroperitoneal mass, sarcomas, teratoma, testicular tumors

Introduction:
Teratomas are bizarre neoplasms derived from embryonic tissues typically found in the gonads and sacrococcygeal tissues of adults.
Case presentation:
We report a case of histologically proven metastatic teratoma with an unusual presentation. The 32-year old male patient had a retroperitoneal tumour detected on computed tomography during the workup of abdominal pain.
Discussion:
Retroperitoneal teratomas are uncommon and a challenge to manage. Differential diagnoses could be a dilemma without a thorough history and a high index of suspicion.
Conclusions:
Recurrent metastatic teratoma is one of the rare differential diagnoses of any retroperitoneal mass and can present years after complete resection of the primary tumour.
Pathologic Complete Response of HER-2 Neu-Positive Invasive Ductal Carcinoma and Ductal Carcinoma In Situ following Neoadjuvant Chemotherapy plus Trastuzumab: A Case Report and Review of Literature
Authors: Sommer R Gunia, Mita S Patel, Eleftherios P Mamounas
Journal: Case Rep Surg (2012)
MeSH terms: Case Reports

Pathologic complete response (pCR) after NC has been consistently associated with improved outcomes. Residual DCIS after NC does not portray worse prognosis compared to complete eradication of all disease but has clinical implications regarding surgical management. We report a case of pCR of DCIS associated with invasive carcinoma in an HER-2 + tumor after NC plus trastuzumab despite persistence of malignant-appearing microcalcifications mammographically. A 41-year-old Caucasian female presented with a 4 × 4 cm mass in the right breast and a 2.5 cm right axillary node. Mammogram showed a 2.5 cm mass and a 12 cm area of linear pleomorphic, suspicious calcifications in the upper part of the breast. Core biopsy revealed invasive ductal carcinoma and DCIS associated with calcifications (ER 85%, PR 6%, Her2neu 3+ by IHC). Axillary node FNA was positive for malignancy. The patient received doxorubicin/cyclophosphamide (AC) → paclitaxel plus T with complete clinical and radiologic response but no significant change in the microcalcifications. Final pathology showed no residual invasive carcinoma or DCIS despite the presence of numerous ducts with microcalcifications. Documented eradication of DCIS has not been reported following NC when malignant-appearing calcifications persist and this observation may have important clinical implications regarding surgical management.
Cardiac Arrest Secondary to Bilateral Pulmonary Emboli following Arteriovenous Fistula Thrombectomy: A Case Report with Review of the Literature
Authors: Avni Shah, Naheed Ansari, Zaher Hamadeh
Journal: Case Rep Nephrol (2012)

Number of patients with End Stage Renal Disease (ESRD) is growing worldwide. Hemodialysis remains the main modality of renal replacement therapy for ESRD patients. A patent hemodialysis access (arteriovenous fistula or arteriovenous graft) plays a key role in successful delivery of hemodialysis. Common vascular access issues encountered by patients and nephrologists are thrombosis and infection. The thrombosed access is declotted by various percutaneous techniques these days by multiple outpatient access centers in a timely fashion. Thrombolysis can give rise to various complications, a few of which can be life threatening. A young hemodialysis patient underwent percutaneous thrombolysis of his clotted arteriovenous fistula. Outpatient access thrombectomy was complicated immediately afterwards with cardiac arrest requiring cardiac resuscitation in the recovery room. The patient was admitted to intensive care unit after life sustaining care. Work up revealed multiple pulmonary emboli to both lung fields on CT scan of the chest. Patient was anticoagulated and discharged from the hospital. Thrombolysis of clotted hemodialysis access is associated commonly with occurrences of pulmonary embolic which are usually asymptomatic. Massive pulmonary embolization due to access thrombolysis is rare. Nephrologists and radiologists should be aware of this dangerous complication particularly in patients with preexisting cardiopulmonary disease.
Laparoscopic Nephroureterectomy with Heminephrectomy for Urothelial Carcinoma of the Upper Renal Pelvis on the Left Side of the Horseshoe Kidney
Authors: Taro Ikeda, Kazunori Matsumoto, Go Hasegawa, Yohei Ikeda, Noboru Hara, Tsutomu Nishiyama
Journal: Case Rep Urol (2022)
MeSH terms: Case Reports

A 70-year-old male was diagnosed with urothelial carcinoma of the upper renal pelvis on the left side of the horseshoe kidney. Preoperative thin-slice contrast-enhanced CT with three-dimensional reconstruction of the images revealed that two arteries arising from the aorta supplied the left moiety of the horseshoe kidney. He underwent laparoscopic transperitoneal nephroureterectomy with heminephrectomy on the left side of the horseshoe kidney visualized by indocyanine green fluorescence system. The histopathological findings of the renal pelvic tumor revealed invasive urothelial carcinoma with squamous differentiation, high grade, and pT3.
Case Report: Two Cases of Soft-Tissue Sarcomas: High TMB as a Potential Predictive Biomarker for Anlotinib Combined With Toripalimab Therapy
Authors: Yong Li, Yihong Liu, Yanchun Qu, Xian Chen, Xin Qu, Yongsong Ye, Xiaohua Du, Ying Cheng, Mian Xu, Haibo Zhang
Journal: Front Immunol (2022)
Keywords: anlotinib, immune checkpoint inhibitors, soft-tissue sarcomas, toripalimab, tumor mutational burden (tmb)
MeSH terms: B7-H1 Antigen / genetics, Sarcoma / diagnosis, Sarcoma / drug therapy, Sarcoma / genetics, Case Reports, Adult, Antibodies, Monoclonal, Humanized, Biomarkers, Tumor / genetics, Child, Preschool, Female, Humans, Indoles, Male, Quinolines, Antibodies, Monoclonal, Humanized, B7-H1 Antigen, Biomarkers, Tumor, Indoles, Quinolines, anlotinib, toripalimab

Soft-tissue sarcomas (STS), with over 100 different histologic subtypes, are rare tumors that account for 1% of all adult malignancies. Immune checkpoint inhibitors (ICIs) display certain benefits in some subtypes, especially in undifferentiated pleomorphic sarcoma (UPS), alveolar soft part sarcoma (ASPS), and leiomyosarcoma (LMS). However, efficacy is difficult to predict. High tumor mutational burden (TMB-H) and programmed death-ligand 1 (PD-L1) expression are the strongest features associated with the efficacy of immunotherapy, although they are rarely found in STS patients. Until now, whether or not PD-L1 expression and TMB are related to the efficacy of immunotherapy has not been determined. In this study, we report data obtained from two STS patients, one ASPS and one UPS with a high TMB, that benefited from anlotinib combined with toripalimab following resistance to anlotinib monotherapy. A 26 year-old female patient was diagnosed with ASPS. PD-L1 was negative. Next generation sequencing (NSG) revealed ASPSCR1-TFE3 fusion and TMB-H. Following eight months of anlotinib monotherapy, the patient's disease progressed but continued to benefit from subsequent use of anlotinib combined with toripalimab for 19 months. Another 63 year-old male patient was diagnosed with UPS. PD-L1 was positive and NGS revealed TMB-H. Following 19 months of anlotinib monotherapy, the patient's disease progressed but continued to benefit from subsequent use of anlotinib combined with toripalimab. DFS is 23 months to follow-up time. The results presented are the first to report the relationship between TMB and the efficacy of immunotherapy in STS. Based on our results, we hypothesis that anlotinib combined with toripalimab is effective for the treatment of some advanced ASPS or UPS. TMB may be a potential predictive biomarker for ICI treatment and deserves additional study.
Management of Refractory Noninsulinoma Pancreatogenous Hypoglycemia Syndrome with Gastric Bypass Reversal: A Case Report and Review of the Literature
Authors: Bhavana B Rao, Benjamin Click, George Eid, Ronald A Codario
Journal: Case Rep Endocrinol (2015)

Background. Roux-en-Y gastric bypass (RYGB) is a commonly performed, effective bariatric procedure; however, rarely, complications such as postprandial hypoglycemia due to noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) may ensue. Management of refractory NIPHS is challenging. We report a case that was successfully treated with RYGB reversal. Case Report. A 58-year-old male with history of RYGB nine months earlier for morbid obesity presented for evaluation of postprandial, hypoglycemic seizures. Testing for insulin level, insulin antibodies, oral hypoglycemic agents, pituitary axis hormone levels, and cortisol stimulation was unrevealing. Computed tomography (CT) scan of the abdomen was unremarkable. A 72-hour fast was completed without hypoglycemia. Mixed meal testing demonstrated endogenous hyperinsulinemic hypoglycemia (EHH) and selective arterial calcium stimulation testing (SACST) was positive. Strict dietary modifications, maximal medical therapy, gastrostomy tube feeding, and stomal reduction failed to alleviate symptoms. Ultimately, he underwent laparoscopic reversal of RYGB. Now, 9 months after reversal, he has markedly reduced hypoglycemia burden. Discussion. Hyperfunctioning islets secondary to exaggerated incretin response and altered intestinal nutrient delivery are hypothesized to be causative in NIPHS. For refractory cases, there is increasing skepticism about the safety and efficacy of pancreatic resection. RYGB reversal may be successful.
Pulmonary Atresia with Intact Ventricular Septum associated with Ventriculo-Coronary Arterial Communication in a Fetus at 21 Weeks of Gestation
Authors: Can Yilmaz Yozgat, Yanki Celik Yilmazer, Yilmaz Yozgat
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Pulmonary atresia with the intact ventricular septum (PA-IVS) is a rare anomaly that has an absent communication between the right ventricle and pulmonary arterial circulation. PA-IVS has a hypoplastic and hypokinetic and thickened right ventricle with the intact ventricular septum. It can be diagnosed with PA-IVS in routine obstetric ultrasound examination because the four-chamber view of PA-IVS is generally abnormal. The size of the right ventricular cavity is proportional to the Z value of the diameter of the tricuspid valve. The essential associated cardiac finding of PA-IVS is ventricular-coronary arterial communications (VCAC). The hypertensive RV forces blood through the intramyocardial sinusoids with continuous fistulous contact with the epicardial branches of RCA. It is called the VCAC. A color Doppler can detect VCAC due to its location in the pericardium along the coronary artery. If patients have VCAC and tricuspid Z score below -4, all of these conditions are infallible signs of high mortality rates in their fetal or postnatal lives. Our aim in presenting this case is to remind perinatologists if they detect an abnormal four-chamber view of the fetus's heart, they should also carefully examine whether VCAC exists. Herein, we report a case of PA-IVS and VCAC at 21 weeks' gestation with fetal echocardiographic images.
Case Report: Neutralization of Autoantibodies Targeting G-Protein-Coupled Receptors Improves Capillary Impairment and Fatigue Symptoms After COVID-19 Infection
Authors: Bettina Hohberger, Thomas Harrer, Christian Mardin, Friedrich Kruse, Jakob Hoffmanns, Lennart Rogge, Felix Heltmann, Michael Moritz, Charlotte Szewczykowski, Julia Schottenhamml, Martin Kräter, Antonio Bergua, Matthias Zenkel, Andreas Gießl, Ursula Schlötzer-Schrehardt, Robert Lämmer, Martin Herrmann, Annekathrin Haberland, Peter Göttel, Johannes Müller, Gerd Wallukat
Journal: Front Med (Lausanne) (2021)
Keywords: bc 007, covid-19, oct angiography, chronic fatigue syndrome, functional gpcr autoantibodies, glaucoma, long-covid syndrome
MeSH terms: Case Reports

Clinical features of Coronavirus disease 2019 (COVID-19) are caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). Acute infection management is a substantial healthcare issue, and the development of long-Covid syndrome (LCS) is extremely challenging for patients and physicians. It is associated with a variety of characteristics as impaired capillary microcirculation, chronic fatigue syndrome (CFS), proinflammatory cytokines, and functional autoantibodies targeting G-protein-coupled receptors (GPCR-AAbs). Here, we present a case report of successful healing of LCS with BC 007 (Berlin Cures, Berlin, Germany), a DNA aptamer drug with a high affinity to GPCR-AAbs that neutralizes these AAbs. A patient with a documented history of glaucoma, recovered from mild COVID-19, but still suffered from CFS, loss of taste, and impaired capillary microcirculation in the macula and peripapillary region. He was positively tested for various targeting GPCR-AAbs. Within 48 h after a single BC 007 treatment, GPCR-AAbs were functionally inactivated and remained inactive during the observation period of 4 weeks. This observation was accompanied by constant improvement of the fatigue symptoms of the patient, taste, and retinal capillary microcirculation. Therefore, the removal of GPCR-AAb might ameliorate the characteristics of the LCD, such as capillary impairment, loss of taste, and CFS.