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https://www.readbyqxmd.com/read/29054962/expanded-alleles-of-the-fmr1-gene-are-related-to-unexplained-recurrent-miscarriages
#1
Xin-Hua Wang, Xiao-Hua Song, Tong Li, Xing-Hua Diao, Qing-Chun Li, Xiang-Hui Zhang, Yan-Lin Wang, Xiao-Hui Deng
Up to 50% of recurrent miscarriage cases in women occur without an underlying etiology. In the current prospective case-control study, we determined the impact of CGG trinucleotide expansions of the FMR1 gene in 49 women with unexplained recurrent miscarriages. Case group consisted of women with 2 or more unexplained consecutive miscarriages. Blood samples were obtained and checked for the presence of expanded alleles of the FMR1 gene using polymerase chain reaction. Patients harboring the expanded allele, with a threshold set to 40 repeats, were further evaluated by sequencing...
October 20, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/29054940/rare-presentation-of-an-old-bug
#2
Hasan Ahmad Hasan Albitar, Alice Gallo de Moraes, Kaiser G Lim
We highlight a rare presentation of Legionella infection in a 77-year-old woman with a clinical diagnosis of giant cell arteritis 2 months prior to presentation. She was started on 60 mg prednisone that was tapered to 10 mg after 4 weeks following her diagnosis. She presented with a 1-month progressive dyspnoea in the absence of any other symptoms. Her exposure history was significant only for a recent trip to Florida where she stayed at a hotel. Initial laboratory workup was significant for hyponatraemia (127 mmol/L)...
October 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29054899/lung-adenocarcinoma-metastastic-lesion-in-the-internal-auditory-meatus
#3
Eugene Hung Chih Wong, Daniel Bodmer, Nora Tetter, Yves Brand
Metastasis to the cerebellopontine angle (CPA) or internal auditory meatus (IAM) is rare.We report a rare case of a 69-year-old woman with metastatic lung adenocarcinoma, who presented with 2 weeks history of left-sided hearing loss and progressively worsening vertigo. Examination revealed a left-sided facial nerve palsy while pure tone audiometry (PTA) showed a new left-sided deafness. MRI showed a new enhancing soft tissue lesion in the left IAM, highly suspicious of new metastases from her progressive lung cancer, which contributed to her neuro-otological symptoms...
October 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29054771/spinal-cavernous-angioma-associated-with-klippel-trenaunay-weber-syndrome-a-case-report-and-literature-review
#4
Kazunori Oda, Daijiro Morimoto, Kyongsong Kim, Kanako Yui, Takao Kitamura, Akio Morita
Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital vascular disorder characterized by the classic triad of cutaneous nevi, venous varicosities, and osseous and soft tissue hypertrophy of the affected limb. Various vascular anomalies of the central nervous system have also been described in patients with this syndrome. The English-language literature to date contains six reports of associations between KTWS and spinal cord cavernous angioma (CA), but the management of these patients has not been well described...
October 17, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29054766/rethinking-genotype-phenotype-correlations-in-papillorenal-syndrome-a-case-report-on-an-unusual-congenital-camptodactyly-and-skeletal-deformity-with-a-heterogeneous-pax2-mutation-of-hexanucleotide-duplication
#5
Jiewei Liu, Ping Wang, Juan Huang, Zihua Yu
Papillorenal syndrome (PRS), an autosomal dominant inherited condition, is clinically featured by renal hypoplasia and optic nerve dysplasia. Based on current knowledge of genotype-phenotype correlations in PRS, mutations in the Paired box 2 (PAX2) gene have been recognized as a critical pathogenesis of typical renal and optic disease manifestations. However, little information is currently available on the skeletal abnormalities of PRS and the potential contribution of PAX2 mutations. Here, we present a case of a 10-year-old female PRS patient with the typical features of chronic renal failure and severe myopia, but was unexpectedly discovered camptodactyly of her left middle finger which affects the proximal interphalangeal joint...
October 17, 2017: Gene
https://www.readbyqxmd.com/read/29053974/depression-as-seen-through-the-eyes-of-rural-chinese-women-implications-for-help-seeking-and-the-future-of-mental-health-care-in-china
#6
Peiyuan Qiu, Eric D Caine, Fengsu Hou, Catherine Cerulli, Marsha N Wittink
BACKGROUND: As part of a larger epidemiological study of depression among rural Chinese women, we sought to understand their explanatory models of depression. We explored how participants describe depression, to what cause they attribute depression, and what sources of treatment they would recommend. METHODS: Participants first were assessed with the Center for Epidemiological-Depression scale (CES-D), with a cut-point of 16 or greater indicative of depression. The Short Explanatory Model Interview (SEMI), a semi-structured questionnaire, was our primary tool for exploring participants' explanatory models relating to a vignette describing a rural Chinese woman with depression...
October 6, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29052527/negative-genic-switch-of-her-2-in-the-primary-tumor-instead-of-the-synchronous-metastatic-nodal-lesions-after-neoadjuvant-chemotherapy-in-a-patient-with-primary-her2-positive-breast-cancer
#7
Hao-Ran Chen, Yu-Tuan Wu, Qiu-Bo Yu, Ya-Ying Yang, Yu-Xian Wei, Hong-Yuan Li, Kai-Nan Wu, Ling-Quan Kong
BACKGROUND: A few retrospective studies have indicated that neoadjuvant chemotherapy (NAC) in breast cancer may change biomarker profiles of the primary tumor. Little is known about the status of HER-2 gene of the synchronous nodal metastases when that of the residual tumor undergoes negative conversion in a neoadjuvant setting. CASE PRESENTATION: We describe a female patient with left breast cancer (T2N2M0) who underwent negative conversion of HER-2 in the primary tumor instead of the synchronous nodal lesions after NAC...
October 19, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29051881/fracture-management-in-pyknodysostosis-a-rare-case-report
#8
G Subramanya Gandhi, V Vijayanarasimhan, Lionel John, S Kailash, E Sathish Balaji
INTRODUCTION: Pyknodysostosis is congenital osteosclerotic skeletal dysplasia of a rare entity. It is an autosomal recessive disease which presents with short stature and generalized osteosclerosis of skeleton as result of decreased bone turnover. Here, the authors report a case of pyknodysostosis who presented to our emergency room with a pathological fracture in the shaft of the femur for which operative intervention was carried out. CASE REPORT: A 30-year-old female presented to our emergency room with a history of trivial injury to right thigh region and was diagnosed as fracture in her right femur shaft region...
May 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29050458/endoscopic-treatment-of-jejunal-heterotopic-gastric-mucosa-that-caused-recurrent-intussusception
#9
Ke Ryun Ahn, Ja Seol Koo, Hwan Il Kim, Ji Hye Kim, Jee Hyun Lee, Seung Young Kim, Sung Woo Jung, Sang Woo Lee
Heterotopic gastric mucosa (HGM) is a rare anomaly in the small bowel and may be the cause of intussusception when it gets a lead point in the jejunum. All cases of intussusception due to intestinal HGM have been treated with surgical resection. A 5-year-old girl presented with chief complaints of vomiting and abdominal pain for 2 weeks. A computed tomography scan of the abdomen showed intussusception at the proximal jejunal loops. Three air reductions and one saline reduction were attempted without success...
October 18, 2017: Clinical Endoscopy
https://www.readbyqxmd.com/read/29050014/a-real-life-analysis-of-reproductive-outcome-after-fertility-preservation-in-female-cancer-patients
#10
Sofie Hulsbosch, Martin Koskas, Carla Tomassetti, Petra De Sutter, Hans Wildiers, Patrick Neven, Thomas D'Hooghe, Frederic Amant
BACKGROUND: Fertility preservation before or during cancer treatment in young women has become an important health issue because of delayed motherhood and improved survival rates. This study evaluates the necessity and the efficacy of fertility preservation, with a focus on actual pregnancy wish and outcome after fertility preservation and cancer treatment. PATIENTS AND METHODS: All consecutive patients who received fertility preservation in 2 university referral centers before or during cancer treatment were included...
October 20, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/29048090/engineering-a-nanotubular-mesoporous-cobalt-phosphide-electrocatalyst-by-the-kirkendall-effect-towards-highly-efficient-hydrogen-evolution-reactions
#11
Yue-E Miao, Fei Li, Yu Zhou, Feili Lai, Hengyi Lu, Tianxi Liu
Tailoring the size and controlling the morphology of particular nano-architectures are considered as two promising strategies to improve the catalytic performance of metal nanocrystals towards hydrogen evolution reactions (HERs). Herein, mesoporous cobalt phosphide nanotubes (CoP-NTs) with a three-dimensional network structure have been obtained through a facile and efficient electrospinning technique combined with thermal stabilization and phosphorization treatments. The thermal stabilization process has been demonstrated to play a key role in the morphological tailoring of Co3O4 nanotubes (Co3O4-NTs)...
October 19, 2017: Nanoscale
https://www.readbyqxmd.com/read/29047366/the-use-of-cinacalcet-hinders-the-diagnosis-of-parathyroid-carcinoma-in-a-chronic-dialysis-patient-a-case-report
#12
Daisuke Takada, Tatsuo Tsukamoto, Miho Fuse, Shinpei Kada, Motoko Yanagita
BACKGROUND: Secondary hyperparathyroidism (SHPT) is a common complication in patients receiving chronic dialysis therapy. Although cinacalcet can control parathyroid function and bone turnover, preventing ectopic calcification remains challenging. Cinacalcet can also suppress PTH secretion due to parathyroid carcinoma in the same way as it does for parathyroid hyperplasia in the uremic condition. We present a case of parathyroid carcinoma partially controlled by cinacalcet, in which tumorous calcinosis was successfully resolved by total parathyroidectomy...
October 18, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29046033/-solar-urticaria-case-report-and-literature-review
#13
María Raigosa, Yuliana Toro, Jorge Sánchez
BACKGROUND: Solar urticaria is a rare type of inducible urticaria characterized by wheal and erythema formation shortly after exposure to sunlight or to an artificial light source; its pathophysiology is not yet entirely understood. The treatment of choice, in addition to exposure avoidance, consists in antihistamine administration. CLINICAL CASE: This is the case of a 27-year-old woman with no personal history of allergic diseases and with a 2-year history of erythema and wheals in photo-exposed areas associated with sunlight exposure for periods longer than 10 minutes...
July 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/29045979/-changes-of-serum-krebs-von-den-lungen-6-levels-in-interstitial-lung-disease-associated-with-dermatomyositis-and-secondary-sj%C3%A3-gren-s-syndrome-a-case-report
#14
J F Yu, Y B Jin, J He, Y An, Z G Li
Interstitial lung diseases (ILDs) are a diverse group of pulmonary disorders characterized by various patterns of inflammation and fibrosis in the interstitium of the lung. The underlying pathogenesis of ILDs is complex and associated with multiple rheumatologic conditions, such as systemic sclerosis, rheumatoid arthritis, pollymyositis and dermatomyositis, Sjögren's syndrome, and systemic lupus erythematosus. As the disease progresses, excessive pulmonary fibrosis impairs alveolar gas exchange and damages pulmonary function...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29045452/prospective-multicenter-french-study-evaluating-the-clinical-impact-of-the-breast-cancer-intrinsic-subtype-prosigna%C3%A2-test-in-the-management-of-early-stage-breast-cancers
#15
Delphine Hequet, Céline Callens, David Gentien, Benoit Albaud, Marie-Ange Mouret-Reynier, Coraline Dubot, Paul Cottu, Cyrille Huchon, Sonia Zilberman, Helene Berseneff, Cyril Foa, Rémy Salmon, Aurélie Roulot, Florence Lerebours, Anne Salomon, Nadeem Ghali, Pascale Morel, Qianyi Li, Anne Cayre, Jean-Marc Guinebretière, John Hornberger, Frédérique Penault-Llorca, Roman Rouzier
PURPOSE: The Prosigna® breast cancer prognostic gene signature assay identifies a gene-expression profile that permits the classification of tumors into subtypes and gives a score for the risk of recurrence (ROR) at 10 years. The primary objective of this multicenter study was to evaluate the impact of Prosigna's assay information on physicians' adjuvant treatment decisions in patients with early-stage breast cancer. Secondary objectives were to assess confidence of practitioners in their therapeutic recommendations before and after the added information provided by the Prosigna assay; and to evaluate the emotional state of patients before and after the Prosigna test results...
2017: PloS One
https://www.readbyqxmd.com/read/29045014/efficacy-and-toxicity-of-pegylated-liposomal-doxorubicin-based-chemotherapy-in-early-stage-breast-cancer-a-multicenter-retrospective-case-control-study
#16
Fu Ou Yang, Nicholas C Hsu, Sin-Hua Moi, Yin-Che Lu, Chia-Ming Hsieh, King-Jen Chang, Dar-Ren Chen, Chi-Wen Tu, Hwei-Chung Wang, Ming-Feng Hou
AIM: PEGylated liposomal doxorubicin (PLD) has comparable efficacy and differing toxicity from conventional anthracyclines used to treat advanced breast cancer. This study compared disease-free survival and toxicity between PLD-based and conventional anthracycline-based regimens as adjuvant treatments for early-stage breast cancer. METHODS: We analyzed disease-free survival (DFS) rates, and adverse events in 102 women with early-stage (I-IIIa) breast cancer who received adjuvant PLD-based chemotherapy from 2002 to 2008...
October 18, 2017: Asia-Pacific Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29044799/insulin-secretory-defect-in-familial-partial-lipodystrophy-type-2-and-successful-long-term-treatment-with-a-glucagon-like-peptide-1-receptor-agonist
#17
F Banning, M Rottenkolber, I Freibothe, J Seissler, A Lechner
BACKGROUND: Familial partial lipodystrophies are rare monogenic disorders that are often associated with diabetes. In such cases, it can be difficult to achieve glycaemic control. CASE REPORT: We report a 34-year old woman with familial partial lipodystrophy type 2 (Dunnigan) and diabetes; her hyperglycaemia persisted despite metformin treatment. A combined intravenous glucose tolerance-euglycaemic clamp test showed severe insulin resistance, as expected, but also showed strongly diminished first-phase insulin secretion...
October 17, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/29044499/identification-of-the-first-homozygous-1-bp-deletion-in-gdf9-gene-leading-to-primary-ovarian-insufficiency-by-using-targeted-massively-parallel-sequencing
#18
M M França, M F A Funari, M Y Nishi, A M Narcizo, S Domenice, E M F Costa, A M Lerario, B B Mendonca
Targeted massively parallel sequencing (TMPS) has been used in genetic diagnosis for Mendelian disorders. In the past few years, the TMPS has identified new and already described genes associated with primary ovarian insufficiency phenotype. Here, we performed a targeted gene sequencing to find a genetic diagnosis in idiopathic cases of Brazilian POI cohort. A custom SureSelect(XT) DNA target enrichment panel was designed and the sequencing was performed on Illumina NextSeq sequencer. We identified one homozygous 1-bp deletion variant (c...
October 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29043849/absorption-of-ibuprofen-orodispersible-tablets-in-early-postoperative-phase-a-pharmacokinetic-study
#19
A Piirainen, M Kokki, H M Lidsle, M Lehtonen, V P Ranta, H Kokki
OBJECTIVE: Patient-controlled oral analgesia has gained popularity in postoperative pain management. Anesthesia and surgery delay gastrointestinal tract function and this may therefore decrease bioavailability of drugs taken by mouth. To hasten absorption, an orodispersible ibuprofen tablet has been developed. In this study, we evaluated the pharmacokinetics and feasibility of orodispersible ibuprofen tablets in spine surgery patients. METHODS: The study design was a prospective clinical trial where each patient served as her/his own control...
October 18, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/29043711/the-many-guises-of-endometriosis-giant-abdominal-wall-endometriosis-masquerading-as-an-incisional-hernia
#20
Chiara Petrosellini, Sala Abdalla, Tayo Oke
Endometriosis is defined by the presence of ectopic endometrial tissue outside the uterine cavity. Although it is a leading cause of chronic pelvic pain and infertility, its clinical presentation can vary, resulting in diagnostic and therapeutic challenges. Extrapelvic endometriosis is particularly difficult to diagnose owing to its ability to mimic other conditions. Endometrial tissue in a surgical scar is uncommon and often misdiagnosed as a granuloma, abscess, or malignancy. Cyclical hemorrhagic ascites due to peritoneal endometriosis is exceptionally rare...
January 2018: International Journal of Fertility & Sterility
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