OpenMed/multicare-articles huggingface dataset:
A nutrition and conditioning intervention for natural bodybuilding contest preparation: case study
Authors: Scott Lloyd Robinson, Anneliese Lambeth-Mansell, Gavin Gillibrand, Abbie Smith-Ryan, Laurent Bannock
Journal: J Int Soc Sports Nutr (2015)
Keywords: body composition, conditioning, fat oxidation, metabolic health, physique, sports nutrition
MeSH terms: Diet, Feeding Behavior, Sports Nutritional Physiological Phenomena, Case Reports, Adipose Tissue, Athletic Performance, Body Composition, Body Mass Index, Body Weight, Dietary Supplements, Energy Metabolism, Humans, Male, Motor Activity, Muscle Strength, Muscle, Skeletal / metabolism, Nutritional Status, Oxygen Consumption, Rest, Whey Proteins / administration & dosage, Young Adult, Whey Proteins

Bodybuilding competitions are becoming increasingly popular. Competitors are judged on their aesthetic appearance and usually exhibit a high level of muscularity and symmetry and low levels of body fat. Commonly used techniques to improve physique during the preparation phase before competitions include dehydration, periods of prolonged fasting, severe caloric restriction, excessive cardiovascular exercise and inappropriate use of diuretics and anabolic steroids. In contrast, this case study documents a structured nutrition and conditioning intervention followed by a 21 year-old amateur bodybuilding competitor to improve body composition, resting and exercise fat oxidation, and muscular strength that does not involve use of any of the above mentioned methods. Over a 14-week period, the Athlete was provided with a scientifically designed nutrition and conditioning plan that encouraged him to (i) consume a variety of foods; (ii) not neglect any macronutrient groups; (iii) exercise regularly but not excessively and; (iv) incorporate rest days into his conditioning regime. This strategy resulted in a body mass loss of 11.7 kg's, corresponding to a 6.7 kg reduction in fat mass and a 5.0 kg reduction in fat-free mass. Resting metabolic rate decreased from 1993 kcal/d to 1814 kcal/d, whereas resting fat oxidation increased from 0.04 g/min to 0.06 g/min. His capacity to oxidize fat during exercise increased more than two-fold from 0.24 g/min to 0.59 g/min, while there was a near 3-fold increase in the corresponding exercise intensity that elicited the maximal rate of fat oxidation; 21% V̇O2max to 60% V̇O2max. Hamstring concentric peak torque decreased (1.7 to 1.5 Nm/kg), whereas hamstring eccentric (2.0 Nm/kg to 2.9 Nm/kg), quadriceps concentric (3.4 Nm/kg to 3.7 Nm/kg) and quadriceps eccentric (4.9 Nm/kg to 5.7 Nm/kg) peak torque all increased. Psychological mood-state (BRUMS scale) was not negatively influenced by the intervention and all values relating to the Athlete's mood-state remained below average over the course of study. This intervention shows that a structured and scientifically supported nutrition strategy can be implemented to improve parameters relevant to bodybuilding competition and importantly the health of competitors, therefore questioning the conventional practices of bodybuilding preparation.
Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report
Authors: Roberto L P Mazzaschi, Donald R Love, Ian Hayes, Alice George
Journal: Case Rep Genet (2011)
MeSH terms: Case Reports

An amniotic fluid sample from an in vitro fertilized pregnancy was referred for cytogenetic analysis based on a Down syndrome screening risk of 1 : 21. Routine cytogenetic analysis showed a nonmosaic karyotype of 46,XX,r(21)(p11.2q22.3), with partial monosomy for chromosome 21 due to a ring chromosome replacing one of the normal homologues. Detailed ultrasound scanning for the remainder of the pregnancy did not reveal any unusual findings. Parental bloods showed that the mother was mosaic for the ring 21 with a karyotype of 46,XX,r(21)(p11.2q22.3)/46,XX and the father had an unrelated Robertsonian translocation, with a karyotype of 45,XY,rob(13;14)(q10;q10). Microarray analysis of cultured amniocytes determined the extent of the deletion of chromosome 21 material in the ring. The parents were given genetic counselling, and a phenotypically normal female baby was delivered at term. This case highlights the importance of karyotyping as an initial step in the management of couples referred for in vitro fertilization.
Seroprevalence of Old World Hantaviruses and Crimean Congo Hemorrhagic Fever Viruses in Human Populations in Northwestern Ukraine
Authors: Ihor Lozynskyi, Anna Shulgan, Olha Zarichna, Iryna Ben, William Kessler, Xueyuan Cao, Olena Nesterova, Gregory E Glass, Briana Spruill-Harrell, Mariah K Taylor, Evan P Williams, Colleen B Jonsson
Journal: Front Cell Infect Microbiol (2020)
Keywords: crimean congo hemorrhagic fever virus, dobv, dobrava-belgrade virus, puuv, puumala virus, ukraine, hantaviruses, human population survey
MeSH terms: Hemorrhagic Fever Virus, Crimean-Congo, Hemorrhagic Fever, Crimean / epidemiology, Orthohantavirus, Research Support, Non-U.S. Gov't, Antibodies, Viral, Enzyme-Linked Immunosorbent Assay, Humans, Prospective Studies, Retrospective Studies, Seroepidemiologic Studies, Ukraine / epidemiology, Antibodies, Viral

In Ukraine, a retrospective review of clinical case reports by public health officials suggest that human cases of febrile illnesses associated with hemorrhage may be due to infections of Crimean-Congo hemorrhagic fever virus (CCHFV) and Old World hantaviruses. In a serosurvey of 966 healthy individuals in the Lviv Oblast, Ukraine, bordering Poland, we found that 1.6% showed cross-reactivity to hantaviral antigens by an immunofluorescence assay (IFA) and 1.7% of the study participants had antibodies cross-reactive to CCHFV by enzyme-linked immunosorbent assay (ELISA). Demographic variables and history of exposures obtained through questionnaires were assessed by logistic regression models for association with seroprevalence for both viruses with no significant risk factors found. Analysis of spatial distribution identified two clusters of samples positive for antibodies to both hantaviruses and CCHFV, which, however, were not statistically significant (p > 0.05). In general, the study results suggest that the population of the study area is exposed to hantaviruses and CCHFV. Further surveillance for respective pathogens in Ukraine is warranted and prospective surveillance of febrile patients with unidentified febrile illness.
Aorto-Right Ventricular Shunt after TAVR: Rare Complication of Common Procedure
Authors: Abdelkader Almanfi, Ahmad Qurie, Neil Strickman
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Background:
The primary treatment of symptomatic aortic stenosis is aortic valve replacement. Instead of open chest surgery, transcatheter aortic valve replacement (TAVR) is an alternative intervention for high-risk surgical candidates.
Clinical case:
A 92-year-old male presented with progressive exertional dyspnea and recurrent syncopal attacks secondary to severe AS. The patient underwent successful transfemoral TAVR with 29 mm Edwards SAPIEN XT valve. His postoperative course was complicated by aorto-right ventricular shunt. The patient's clinical course was followed up for one year.
Conclusion:
This case reports the incidence and clinical course of one of the rare complications of TAVR, aorto-right ventricular fistula. Conservative medical management is appropriate in hemodynamically stable patients with this specific complication.
NMR spectroscopy analysis reveals differential metabolic responses in arabidopsis roots and leaves treated with a cytokinesis inhibitor
Authors: Thomas E Wilkop, Minmin Wang, Angelo Heringer, Jaideep Singh, Florence Zakharov, Viswanathan V Krishnan, Georgia Drakakaki
Journal: PLoS One (2020)
MeSH terms: Metabolome, Plant Leaves / drug effects, Plant Roots / drug effects, Quinolones / pharmacology, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, Non-P.H.S., Arabidopsis, Cytokinesis / drug effects, Magnetic Resonance Spectroscopy, Plant Leaves / metabolism, Plant Roots / metabolism, Quinolones, endosidin 7

In plant cytokinesis, de novo formation of a cell plate evolving into the new cell wall partitions the cytoplasm of the dividing cell. In our earlier chemical genomics studies, we identified and characterized the small molecule endosidin-7, that specifically inhibits callose deposition at the cell plate, arresting late-stage cytokinesis in arabidopsis. Endosidin-7 has emerged as a very valuable tool for dissecting this essential plant process. To gain insights regarding its mode of action and the effects of cytokinesis inhibition on the overall plant response, we investigated the effect of endosidin-7 through a nuclear magnetic resonance spectroscopy (NMR) metabolomics approach. In this case study, metabolomics profiles of arabidopsis leaf and root tissues were analyzed at different growth stages and endosidin-7 exposure levels. The results show leaf and root-specific metabolic profile changes and the effects of endosidin-7 treatment on these metabolomes. Statistical analyses indicated that the effect of endosidin-7 treatment was more significant than the developmental impact. The endosidin-7 induced metabolic profiles suggest compensations for cytokinesis inhibition in central metabolism pathways. This study further shows that long-term treatment of endosidin-7 profoundly changes, likely via alteration of hormonal regulation, the primary metabolism of arabidopsis seedlings. Hormonal pathway-changes are likely reflecting the plant's responses, compensating for the arrested cell division, which in turn are leading to global metabolite modulation. The presented NMR spectral data are made available through the Metabolomics Workbench, providing a reference resource for the scientific community.
Allergic anaphylaxis due to subcutaneously injected heparin
Authors: Diana Anders, Axel Trautmann
Journal: Allergy Asthma Clin Immunol (2013)
MeSH terms: Case Reports

Heparins are one of the most used class of anticoagulants in daily clinical practice. Despite their widespread application immune-mediated hypersensitivity reactions to heparins are rare. Among these, the delayed-type reactions to s.c. injected heparins are well-known usually presenting as circumscribed eczematous plaques at the injection sites. In contrast, potentially life-threatening systemic immediate-type anaphylactic reactions to heparins are extremely rare. Recently, some cases of non-allergic anaphylaxis could be attributed to undesirable heparin contaminants.A 43-year-old patient developed severe anaphylaxis symptoms within 5-10 minutes after s.c. injection of enoxaparin. Titrated skin prick testing with wheal and flare responses up to an enoxaparin dilution of 1:10.000 indicated a probable allergic mechanism of the enoxaparin-induced anaphylaxis. The basophil activation test as an additional in-vitro test method was negative. Furthermore, skin prick testing showed rather broad cross-reactivity among different heparin preparations tested.In the presented case, history, symptoms, and results of skin testing strongly suggested an IgE-mediated allergic hypersensitivity against different heparins. Therefore, as safe alternative anticoagulants the patient could receive beneath coumarins the hirudins or direct thrombin inhibitors. Because these compounds have a completely different molecular structure compared with the heparin-polysaccharides.
HER2 Exon 20 Insertion Mutations in Lung Adenocarcinoma: Case Series and Response to Pyrotinib
Authors: Xinyong Zhang, Jialin Lv, Yuhua Wu, Na Qin, Li Ma, Xi Li, Jingying Nong, Hui Zhang, Quan Zhang, Xinjie Yang, Huibo Shi, Jinghui Wang, Shucai Zhang
Journal: Front Oncol (2020)
Keywords: driver oncogenes, exon 20, human epidermal growth factor receptor 2, lung adenocarcinoma, pyrotinib

HER2 mutations have emerged as oncogenic driver gene mutations in non-small cell lung cancer (NSCLC), which have not been described in detail like other driver gene mutations. Here, 295 patients with advanced lung adenocarcinoma were retrospectively screened for HER2 mutations using next-generation sequencing (NGS), and the positive cases were validated by Sanger sequencing. We identified five cases with HER2 exon 20 insertions, representing 1.7% of 295 lung adenocarcinomas. Among them, four different subtypes of HER2 exon 20 insertions were identified, including a rare subtype G778_S779insCPG never reported before with a partial response (PR) to pyrotinib and progression-free survival (PFS) of 12.8 months. Our findings reveal that HER2 exon 20 insertion mutations were detected in a small subset of lung adenocarcinomas. Given the different drug sensitivities, determining the mutation subtype by next-generation sequencing at the time of diagnosis might make sense.
Solitary Encapsulated Neurofibroma Not Associated with Neurofibromatosis-1 Affecting Tongue in a 73-Year-Old Female
Authors: Sk Abdul Mahmud, Neha Shah, Moumita Chattaraj, Swagata Gayen
Journal: Case Rep Dent (2016)

Neurofibromas are benign tumors of nerve cell origin arising due to proliferation of Schwann cells and fibroblasts. They are usually asymptomatic and hence remain undiagnosed. They are commonly found on the skin and intraorally tongue is the most common site for their occurrence. Here, we present a unique case of solitary encapsulated neurofibroma in the oral cavity without any clinical manifestations or family history of Neurofibromatosis type 1 in a 73-year-old female patient who presented with a painless swelling on the tongue. The histopathologic findings closely mimicked benign fibrous histiocytoma. In our case, definitive diagnosis of neurofibroma was made based on clinical findings, family history, and histopathological and immunohistochemical evaluation. Through this case report we want to emphasize the role of biopsy and immunohistochemistry in arriving at a confirmatory diagnosis. The patient was treated by surgical excision and showed no signs of recurrence over a follow-up period of 12 months.
A role of right middle frontal gyrus in reorienting of attention: a case study
Authors: Shruti Japee, Kelsey Holiday, Maureen D Satyshur, Ikuko Mukai, Leslie G Ungerleider
Journal: Front Syst Neurosci (2015)
Keywords: dorsal attention network, endogenous attention, exogenous attention, frontal lobe tumor resection, reorienting of attention, resting state fmri, right middle frontal gyrus, ventral attention network

The right middle fontal gyrus (MFG) has been proposed to be a site of convergence of the dorsal and ventral attention networks, by serving as a circuit-breaker to interrupt ongoing endogenous attentional processes in the dorsal network and reorient attention to an exogenous stimulus. Here, we probed the contribution of the right MFG to both endogenous and exogenous attention by comparing performance on an orientation discrimination task of a patient with a right MFG resection and a group of healthy controls. On endogenously cued trials, participants were shown a central cue that predicted with 90% accuracy the location of a subsequent peri-threshold Gabor patch stimulus. On exogenously cued trials, a cue appeared briefly at one of two peripheral locations, followed by a variable inter-stimulus interval (ISI; range 0-700 ms) and a Gabor patch in the same or opposite location as the cue. Behavioral data showed that for endogenous, and short ISI exogenous trials, valid cues facilitated responses compared to invalid cues, for both the patient and controls. However, at long ISIs, the patient exhibited difficulty in reverting to top-down attentional control, once the facilitatory effect of the exogenous cue had dissipated. When explicitly cued during long ISIs to attend to both stimulus locations, the patient was able to engage successfully in top-down control. This result indicates that the right MFG may play an important role in reorienting attention from exogenous to endogenous attentional control. Resting state fMRI data revealed that the right superior parietal lobule and right orbitofrontal cortex, showed significantly higher correlations with a left MFG seed region (a region tightly coupled with the right MFG in controls) in the patient relative to controls. We hypothesize that this paradoxical increase in cortical coupling represents a compensatory mechanism in the patient to offset the loss of function of the resected tissue in right prefrontal cortex.
Fatal Rhinofacial Mycosis Due to Aspergillus nomiae: Case Report and Review of Published Literature
Authors: Ya Bin Zhou, Dong Ming Li, Jos Houbraken, Ting Ting Sun, G Sybren de Hoog
Journal: Front Microbiol (2020)
Keywords: aspergillus nomiae, antifungal resistance, leukemia, rhino-orbital-cerebral mucormycosis, rhinofacial mycosis, skin and soft tissue infections

Background:
A 73-year-old female suffering from acute myeloid leukemia presented with progressive rhinofacial mycosis. Suspecting it to be mucormycosis, the antifungal amphotericin B (AMB) was administered empirically, but the patient did not respond as planned. The fungus was then isolated from the biopsied tissue and morphologically identified as a species of Aspergillus. Necrosis progressed and she died of cerebral hemorrhage. Since Aspergillus flavus is susceptible to AMB, and several other Aspergillus species can be misidentified as A. flavus, the observed resistance necessitated a re-examination of the fungal isolate.
Methods:
The fungal strain was re-isolated and re-examined morphologically. Additionally, genomic DNA was extracted from the fungus and sequences were obtained from three genomic regions [the rDNA internal transcribed spacer (ITS) region, and portions of the β-tubulin and calmodulin genes] to more accurately identify this Aspergillus strain. Its antifungal susceptibility was assessed using multiple compounds and our findings were compared with literature data.
Results:
The fungal culture again yielded an Aspergillus isolate morphologically identical to A. flavus. Molecular analyses, however, revealed the strain to be A. nomiae, a close relative of A. flavus in section Flavi, and it exhibited resistance to AMB. Reviewing the literature, only five other cases of A. nomiae infection in humans have been reported worldwide.
Conclusion and clinical importance:
The rhinofacial mycosis of the patient was actually due to A. nomiae. The initial misidentification of the fungus, coupled with its resistance to AMB, could be the reason treatment did not help the patient. We postulate that clinical A. nomiae infections may be underreported and that accurate and speedy pathogen identification is important so that an effective antifungal regimen can be administered.
A Syrian Refugee in Iraq Diagnosed as a Case of IL12RB1 Deficiency in Japan Using Dried Blood Spots
Authors: Lika'a Fasih Y Al-Kzayer, Ahmed K Yassin, Khalid Hama Salih, Tomonari Shigemura, Kenji Sano, Ruwaid Behnam Y Al-Simaani, Miyuki Tanaka, Yozo Nakazawa, Yusuke Okuno
Journal: Front Immunol (2019)
Keywords: bacillus calmette-guérin (bcg), flinders technology associates (fta), il12rb1 deficiency, iraq, mendelian susceptibility to mycobacterial diseases (msmd), non-tuberculous mycobacteria (ntm), tuberculosis (tb), whole exome sequencing (wes)
MeSH terms: Dried Blood Spot Testing, Immunologic Deficiency Syndromes / diagnosis, Mycobacterium Infections, Nontuberculous / diagnosis, Receptors, Interleukin-12 / deficiency, Refugees, Tuberculosis / diagnosis, Case Reports, Anti-Bacterial Agents / therapeutic use, BCG Vaccine / adverse effects, Child, Consanguinity, Diagnosis, Differential, Exome Sequencing, Female, Genetic Predisposition to Disease, Humans, Immunologic Deficiency Syndromes / drug therapy, Iraq, Japan, Mutation, Mycobacterium Infections, Nontuberculous / drug therapy, Syria, Treatment Outcome, Anti-Bacterial Agents, BCG Vaccine, IL12RB1 protein, human, Receptors, Interleukin-12

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare condition of primary immunodeficiency disorder. Interleukin-12 receptor β1 (IL12RB1) deficiency, is the most common genetic etiology of MSMD, which is characterized by the selective predisposition to clinical disease caused by weakly-virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccines, and environmental non-tuberculous mycobacteria (NTM). To the best of our knowledge, this is the first case of IL12RB1 deficiency to be reported from Iraq. Our case is an 8-year-old Syrian girl, for first-cousin parents, with a refugee-status in the North of Iraq. She had a history of disseminated BCG infection 2 months after receiving BCG vaccine, in addition to repeated episodes of mild or severe illnesses, such as maculopapular skin rash, lymphadenopathy, gastroenteritis, meningitis, and clinically diagnosed tuberculosis (TB) based on local TB-prevalence setting. Because of limited medical facilities in the war-torn countries; in Syria and Iraq, no diagnosis could be reached. We used Flinders Technology Associates (FTA) cards to transfer her bone marrow aspirate to Japan. A homozygous IL12RB1 mutation was detected by whole exome sequencing in Japan, using genomic-DNA extracted from dried bone marrow sample spots on FTA filter paper. In conclusion, diagnosis of MSMD due to IL12RB1 deficiency was possible by transferring the FTA sample of the patient for genetic evaluation in Japan. Our report recalls the need of pediatricians in countries with TB-prevalence and high parental consanguinity, to consider IL12RB1 deficiency in the differential diagnosis of a child with clinical evidence of TB, especially with the history of disseminated BCG disease.
Evaluation of the Intussusception Risk after Pentavalent Rotavirus Vaccination in Finnish Infants
Authors: Tuija Leino, Jukka Ollgren, Nina Strömberg, Ulpu Elonsalo
Journal: PLoS One (2016)
MeSH terms: Intussusception / etiology, Rotavirus / immunology, Rotavirus Vaccines / adverse effects, Research Support, Non-U.S. Gov't, Female, Finland, Humans, Infant, Male, Risk Assessment, Time Factors, Rotavirus Vaccines

Background:
An association between rotavirus immunisation and intussusception (IS) has been suggested with present rotavirus vaccines in post-licensure studies. In Finland, rotavirus vaccination programme was implemented in September 2009 using a 2, 3, and 5 months schedule with the pentavalent rotavirus vaccine. By the end of 2013, it is estimated that 719 000 rotavirus vaccine doses have been given in the national programme of which 240 000 were first doses. Nationwide register allows us to evaluate the association between rotavirus vaccination and IS.
Methods and materials:
Cases of IS diagnosed during 1999-2013 were identified from National Hospital Discharge Register. All cases under 250 days of age diagnosed during 2009-2013 were confirmed by reviewing medical charts. Self-controlled case-series method was used to assess the risk of IS during 1-21 days compared to 22-42 days post vaccination.
Findings:
In register data the relative incidence of IS at 2 months of age between the post and pre vaccination era was 9.1 (95%CI 2.0-84.3). We identified 22 verified cases with date of admission less than 43 days after any of the three rotavirus vaccine doses. The incidence of IS in the risk period after the 1st dose relative to the control period was 2.0 (95% CI 0.5-8.4; p = 0.34.) Number of excess IS cases per 100 000 first vaccine doses was therefore estimated to be 1.04 (95% CI 0.0-2.5), i.e. one additional IS case per 96 000 first doses of rotavirus vaccine (95% CI 54 600 to ∞). There was no risk detected after 2nd and 3rd doses.
Conclusion:
The finding is in line with the recent published estimates. The benefits of rotavirus immunisation programme outweigh possible small risks of intussusception.