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https://www.readbyqxmd.com/read/28533841/-collodion-baby-clinical-aspects-and-role-of-prenatal-diagnosis
#1
Ridha Fatnassi, Nédia Marouen, Houcem Ragmoun, Latifa Marzougui, Sabra Hammami
Collodion baby is a severe form of congenital ichthyosis detected in neonatal period. It often has a characteristic clinical picture. When evolution is not fatal; it often causes dry Ichthyosis. Thanks to molecular biology techniques, prenatal diagnosis can be made since the 10-12 weeks of amenorrhea, allowing genetic counselling. Prognosis depends on several parameters, namely the degree of the initial manifestation, the duration of desquamation, as well as underlying Ichthyosis This rewiew of the literature which aims to clarify the diagnostic aspects and therapeutic treatment as well as the role of the antenatal diagnosis is based on a new observation of a collodion baby born at 34 weeks, of a parturient woman having an index case and of infant deaths occurring in the first day of life...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28533582/angular-ectopic-pregnancy-presenting-as-rupture-of-lateral-wall-of-the-uterus-late-presentation-in-gestation-week-20
#2
Malihe Hasanzadeh, Salme Dadgar, Yalda Arian, Yousef Yousefi
The differential diagnosis of acute abdominal pain in pregnancy is broad and can be complicated by atypical manifestations that are due to the anatomic distortions and physiologic changes of pregnancy. Due to the lack of clinical understanding, angular pregnancy does not appear to be recognized as a clinical entity and many cases are likely to go undiagnosed. This is a case report of a 34-year-old woman who was referred to the obstetrics emergency department with sudden abdominal pain and in a state of hypovolemic shock...
May 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28525824/evaluation-of-the-quality-of-life-of-pregnant-women-from-2005-to-2015
#3
REVIEW
M Morin, C Vayssiere, O Claris, F Irague, S Mallah, L Molinier, Y Matillon
Over the past two decades, quality of life has become an essential preoccupation in the care of patients. Many measuring instruments are available to assess physical, psychological and social quality of life. These tools allow healthcare professionals to determine the best quality of their patients. However, the quality of life for the pregnant woman seems to be little studied. This article presents the results of a bibliographic review of publications between 2005 and 2015 - referenced in PUBMED and COCHRANE - on the quality of life of pregnant women giving birth after the 22nd week of amenorrhea...
May 10, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28523940/delay-in-estrogen-commencement-is-associated-with-lower-bone-mineral-density-in-turner-syndrome
#4
H H Nguyen, P Wong, B J Strauss, G Jones, P R Ebeling, F Milat, A Vincent
OBJECTIVE: Turner syndrome (TS) is associated with hypogonadism, osteoporosis and fractures. We investigated the prevalence and risk factors for low bone density and fractures in a TS cohort. METHODS: We included 76 TS patients (median age 28.5 years) attending a tertiary hospital between 1998 and 2015 who underwent dual-energy X-ray absorptiometry. Spine and femoral neck (FN) areal bone mineral density (aBMD) were compared with those of a control group. To adjust for smaller bone size, bone mineral apparent density (BMAD) was calculated...
May 19, 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28515261/life-after-treatment-quality-of-life-concerns-in-patients-treated-for-cancer
#5
Mindy E Goldman
Traditionally, the physical, psychological, and psychosocial long-term needs of cancer survivors have received little attention compared with screening for cancer recurrence and secondary cancers. The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Survivorship offer recommendations for various survivorship concerns, and those for improving menopausal symptoms were presented at the NCCN 22nd Annual Conference. Key considerations in managing menopausal symptoms in cancer survivors were reviewed, with chemotherapy-induced amenorrhea, fertility concerns, and both hormonal and nonhormonal therapeutic options featured...
May 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28504499/-transverse-vaginal-septum-diagnosed-in-sisters-cases-report
#6
Gonzalo González García, Patricia Bretón Hernández, María J Boillos Calvo, Anna Miralles Puigbert
Transverse vaginal septum is a disorder that would arise from a failure in the fusion and/or channeling of the urogenital sinus and the müllerian ducts with low frequency but with a significant impact on the health of patients. The treatment is surgical and it will depend on the location and thickness of the septum. Sometimes, it described a female sex-limited autosomal recessive transmission but few cases of family association have been reported. We present the cases of two sisters who had this rare entity 5 years apart and were diagnosed by the presentation of an intense hypogastric abdominal pain at the age of 11 and 12 years when they had a Tanner stage III pubertal development and primary amenorrhea...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28502828/premature-ovarian-insufficiency-an-adolescent-series
#7
Kallirroi Chaloutsou, Pantelis Aggelidis, Andreas Pampanos, Eleni Theochari, Lina Michala
STUDY OBJECTIVE: To study the presentation and causes of premature ovarian insufficiency (POI) in adolescents DESIGN: Retrospective notes review SETTING: Tertiary Referral Outpatient clinic for Pediatric and Adolescent Gynecology PARTICIPANTS: Adolescents with POI INTERVENTIONS: Standard POI evaluation MAIN OUTCOME MEASURES: Age and clinical symptoms at presentation, causative factor for POI, if identified. RESULTS: We identified 22 girls with POI, with a mean age of 15...
May 11, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28502826/recurrent-ovarian-sertoli-leydig-cell-tumor-a-rare-cause-of-secondary-amenorrhea-in-adolescence
#8
Amy M Luke, John W Moroney, Andrea Snitchler, Susan L Whiteway
BACKGROUND: Ovarian tumors, although uncommon in children, can retain endocrine function that disrupts normal feedback mechanisms leading to amenorrhea. Inheritance of germline DICER1 mutations can lead to increased risk for development of ovarian Sertoli-Leydig cell tumors (SLCT). CASE: We report the first case of secondary amenorrhea due to elevated inhibin B levels in an adolescent female with an ovarian SLCT. SUMMARY AND CONCLUSIONS: Ovarian tumors should be included in the differential diagnosis for pediatric patients presenting with menstrual irregularities...
May 11, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28500826/serum-kisspeptin-concentrations-are-negatively-correlated-with-body-mass-index-in-adolescents-with-anorexia-nervosa-and-amenorrhea
#9
Flora Bacopoulou, George I Lambrou, Maria-Evangelia Rodanaki, Evgenia Stergioti, Vasiliki Efthymiou, Efthymios Deligeoroglou, Sophia I Markantonis
OBJECTIVE: To measure, for the first time, serum kisspeptin concentrations in adolescent females with anorexia nervosa (AN) and associated amenorrhea, and investigate potential correlations of kisspeptin with anthropometric, bone and hormonal data. DESIGN: Setting: University Adolescent Medicine Center. PARTICIPANTS: Females aged 12-20 years with typical or atypical AN (based on DSM-5 diagnostic criteria) and controls. INTERVENTIONS: Measurement of body mass index (BMI), whole body/lumbar spine bone mineral density and serum concentrations of kisspeptin, follicle stimulating hormone, luteinizing hormone (LH), prolactin (PRL), thyroid stimulating hormone (TSH), free thyroxine, triiodothyronine, estradiol (E2), 17-hydroxyprogesterone...
January 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28499537/the-menopausal-transition
#10
REVIEW
Janice L Bacon
A clear understanding of the physiology of the menopausal transition, clinical symptoms, and physical changes is essential for individualized patient management, maximizing benefits and minimizing risks for the present and the future. Menopause, defined by amenorrhea for 12 consecutive months, is determined retrospectively and represents a permanent end to menses. Many physical changes occur during the menopausal transition and beyond. Knowledge of symptoms and findings experienced by women undergoing the menopausal transition allow individualized care- improving quality of life and enhancing wellbeing for years to come...
June 2017: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/28499456/role-of-micrornas-in-premature-ovarian-insufficiency
#11
REVIEW
Ying Guo, Junyan Sun, Dongmei Lai
Premature ovarian insufficiency (POI) is a typical disorder of amenorrhea lasting for a minimum of 4 months. The typical characteristics comprised of declined estrogen and raised serum concentrations of follicle-stimulating hormone (FSH) in women <40-year-old, primarily originating from iatrogenic factors, karyotypic abnormalities, and genetic factors. However, the etiology of POI remains unknown in approximately 90% of cases. POI could lead to infertility, osteoporosis, cardiovascular disorder, and cognitive dysfunction...
May 12, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28496510/constrictive-pericarditis-and-primary-amenorrhea-with-syndactyly-in-an-iranian-female-mulibrey-nanism-syndrome
#12
Tahereh Davarpasand, Maryam Sotoudeh Anvari, Mohammad Naderan, Mohammad Ali Boroumand, Hossein Ahmadi
Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. She had severe growth failure and craniofacial dysmorphic feature...
October 3, 2016: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/28493175/treatment-for-lupus-nephritis-an-overview-of-systematic-reviews-and-meta-analyses
#13
REVIEW
Yuehong Chen, Jianhong Sun, Kun Zou, Yuan Yang, Gang Liu
The aim is to systematically review the treatment for lupus nephritis (LN) by performing an overview of systematic reviews and meta-analyses. Electronic databases of OVID MEDLINE, OVID EMBASE, and Cochrane Library were searched to identify published systematic reviews and meta-analyses investigating treatments for LN up to 13 July 2016. A measurement tool to assess systematic reviews (AMSTAR) was used to assess the quality of included studies. Totally, 24 studies were included. Of the eligible studies, 3 studies were rated as poor quality, 11 as moderate, and 10 as good...
May 10, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28491175/mri-characteristics-of-primary-fallopian-tube-choriocarcinoma-a-case-report
#14
Hui-Ru Jia, Jing Zhang, You-Min Guo
Tubal choriocarcinoma is uncommon, and its magnetic resonance imaging characteristics have not yet been reported. In this report, a 39-year-old woman presented with irregular painless vaginal bleeding and a palpable left lower abdominal lump for 2 months following 6 weeks' amenorrhea and positive urine pregnancy test. Her serum β-human chorionic gonadotropin value was significantly increased. Ultrasound revealed a left adnexal mass, which showed no blood flow signal on Color doppler flow imaging. A further MR examination showed a well-defined cystic-solid mass with cystic component accounting for a large proportion in the left lower abdomen...
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28490208/plasma-kisspeptin-levels-in-lactational-amenorrhea
#15
Masato Kotani, Fumihiko Katagiri, Tsuyoshi Hirai, Jiro Kagawa, Issei Tanaka
The kisspeptin is a neuropeptide to play physiological roles in regulating gonadotropin-releasing hormone secretion in the hypothalamus. In human plasma, the kisspeptin concentration is measured, but gonadotropin-releasing hormone is not. This study aims to understand the physiological roles of the circulating kisspeptin in lactational amenorrhea in humans because prolactin reduces the kisspeptin expression and luteinizing hormone secretion resulting in anovulations in rodent brains. Plasma kisspeptin levels were measured in 11 subjects in lactational amenorrhea and in four cases with pathological amenorrhea by different etiologies for comparison using the enzyme immunoassay specific for human kisspeptin...
May 11, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28485330/secondary-amenorrhea-in-a-patient-with-common-variable-immunodeficiency
#16
Qian-Hui Zhou, Ping Chen, Hong Peng, Ruo-Yun Ouyang, Dai-Qiang Li
No abstract text is available yet for this article.
May 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28479759/swyer-syndrome-with-gonadoblastoma-a-clinicoradiological-approach
#17
Arjit Agarwal, Shubhra Agarwal
Primary amenorrhea is a common diagnostic challenge in the gynecology department, wherein there are numerous causes that need to be approached in a systematic manner. However, when a case with a pelvic lump or a solid pelvic mass presents to a gynecologist or a radiologist, the approach becomes difficult to justify amenorrhea and pelvic mass as a single entity. We present the case of a 36-year-old female with the complaints of primary amenorrhea with a pelvic mass. The case was approached keeping in view the diagnostic possibilities and applying the role of clinical, radiological, and laboratory analyses...
January 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28471551/-retrospective-assessment-of-the-influence-of-gestational-age-on-the-first-trimester-medical-abortion-efficiency
#18
M Thiebaut, A Firquet, A Pintiaux, C Vande Kerckhove, M Nisolle
There are two methods of abortion : the medical and the surgical methods, each with its own specific benefits. Theoretically, the limit of medical abortion gestational age is 7 weeks of amenorrhea. However, since 2011, our university department provides the opportunity of a drug regimen until 9 weeks of amenorrhea. This paper describes the results of a retrospective study which covers 804 patients who were submitted to a medical abortion with gestational ages of 6 to 9 weeks. The purpose is to investigate the efficiency of the medical approach up to 9 weeks and to assess the drug dose required according to the term of pregnancy...
April 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28461177/primary-amenorrhea-and-endometriosis-secondary-to-an-unusual-m%C3%A3-llerian-anomaly
#19
B Beran, L Folchini Pereira, S Zimberg, T Falcone
No abstract text is available yet for this article.
April 28, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28459839/new-nr5a1-mutations-and-phenotypic-variations-of-gonadal-dysgenesis
#20
Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46,XY DSD patients with three novel heterozygous mutations in the NR5A1 gene leading to a p.T40P missense mutation and a p.18DKVSG22del nonframeshift deletion in the DNA-binding domain and a familiar p.Y211Tfs*83 frameshift mutation...
2017: PloS One
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