Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes by Lakshmi Rao Kandukuri, Venkata Padmalatha, Murthy Kanakavalli, Raseswari Turlapati, Mangalipally Swapna, Metuku Vidyadhari, Govindaraghavan Saranaya, Kattera Himaja, Mamata Deenadayal, Bipin Kumar Sethi, Prasun Deb, Nalini Gupta, Baidyanath Chakraborthy, Pratibha Nallari, Lalji Singh

“…This study revealed novel X chromosome abnormalities associated with ovarian defects and these observations would be helpful in genetic counseling and apart from, infertility clinics using the information to decide suitable strategies to help such patients.…”
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Quality of Life in Alopecia Areata: A Sample of Tunisian Patients by Jawaher Masmoudi, Rim Sellami, Uta Ouali, Leila Mnif, Ines Feki, Mariam Amouri, Hamida Turki, Abdellaziz Jaoua

“…Studies of interventions such as counseling, psychoeducation, and psychotherapeutic interventions to reduce the impact of the disease may be warranted.…”
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Novel Implications in Molecular Diagnosis of Lynch Syndrome by Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo

“…However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. Very often, the molecular analysis reveals the presence of variants of unknown significance (VUSs) whose interpretation is not easy and requires the combination of different analytical strategies to get a proper assessment of their pathogenicity. …”
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Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome by Kuanshu Li, Liu Yang, Ying Liu, Ding Lin

“…We found novel gene mutations in a Chinese family with ARS, which provides us with a better understanding of the gene mutation spectrum of ARS and the assistance for the genetic counseling and gene-specific therapy in the future.…”
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Self-Identified Employment Challenges for Young Adults with a Cleft Lip and Palate: A Qualitative Exploration by Haslina Rani, Hasherah Mohd Ibrahim, Nurshazwanie Amira Mohamed Noor Shafie, Suziyani Mohamed, Azianura Hani Shaari, Murshida Marizan Nor, Tuti Ningseh Mohd-Dom

“…This study emphasises the need for targeted interventions such as specialised career counselling, access to assistive technologies, and inclusive workplace policies to support CLP individuals in overcoming employment barriers and achieving stable careers.…”
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When Women with Cystic Fibrosis Become Mothers: Psychosocial Impact and Adjustments by Sophie L. Cammidge, Alistair J. A. Duff, Gary J. Latchford, Christine Etherington

“…This study highlights the need for preconceptual psychosocial counselling and postpartum adjustment to CF care.…”
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FERTILITY CARE IN LOW AND MIDDLE INCOME COUNTRIES: Embryologists’ practices of care in IVF-clinics in sub-Saharan Africa by Trudie Gerrits, Andrea Whittaker, Lenore Manderson

“…The embryologists we interviewed performed multiple tasks on top of their laboratory work, including entrepreneurial tasks, advocacy, training, development of regulations, mentoring and patient counselling. They enacted care in several ways, towards gametes and embryos, patients, clinics and the profession. …”
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Predicting Disease Onset from Mutation Status Using Proband and Relative Data with Applications to Huntington's Disease by Tianle Chen, Yuanjia Wang, Yanyuan Ma, Karen Marder, Douglas R. Langbehn

“…Accurate estimation of the AAO distribution based on CAG repeat length is important for genetic counseling and the design of clinical trials. In the Cooperative Huntington's Observational Research Trial (COHORT) study, the CAG repeat length is known for the proband participants. …”
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Genetics of Nonsyndromic Congenital Hearing Loss by Oguz Kadir Egilmez, M. Tayyar Kalcioglu

“…In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. …”
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Effectiveness of clean intermittent self catheterization in patients with recurrent urethral stricture post visual internal urethrotomy by Naqib Ullah, Jamshid Nawaz, Muhammad Shoaib, Asif Khan, Nizam ud Din, Tauheed Fareed

“…METHODOLOGY :  This study   performed in department of urology   Saidu teaching hospital Swat  from June 2016 to July 2019 on 215 patients who were diagnosed as having urethral stricture disease. Patients were counseled  for CISC after removal of catheter 2 times a day for 8 weeks  and  at 8th  week cystourethroscopy performed along with detail  evaluation of symptoms of urethral stricture to know  recurrence of stricture.  …”
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Infected Osteoclastoma of the Knee: An Unusual Presentation by O. B. Pattanashetty, B. B. Dayanand, Yogesh Mapari, Monish Bami

“…X-ray and MRI scan showed a well-defined T2 hyperintense expansile eccentrically located osteolytic lesion involving the metaphyseal region of the proximal tibia and extending into the subarticular space and multiple T1/T2 hypointense septations are noted within the lesion suggestive of osteoclastoma. The patient was counseled regarding the tumor and prognosis and various treatment options. …”
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Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations by Hanife SAAT, Ibrahim SAHIN, Neslihan DUZKALE, Muzeyyen GONUL, Taha BAHSI

“…The clinical use of next-generation sequencing (NGS) methodologies is beneficial in the diagnostic approach to ichthyosis and genetic counseling. This study highlights the underlying molecular cause of ichthyosis by determining the mutational spectrum in a cohort of 19 patients. …”
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Fabry Disease and Early Stroke by U. Feldt-Rasmussen

“…This includes primary prevention such as lifestyle counseling, targeting blood pressure, managing atrial fibrillation, diabetes mellitus, hyperlipidaemia, and ASA.…”
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Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing by Johan J. P. Gille, Karijn Floor, Lianne Kerkhoven, Najim Ameziane, Hans Joenje, Johan P. de Winter

“…In addition, the follow up with respect to genetic counseling and carrier screening in the families is discussed.…”
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The “Endothelialized Muscularis Mucosae”: A Case Report Describing a Large Cavernous Hemangioma at the Terminal Ileum and a New Histologic Clue for Preoperative Diagnosis from Endo... by Erin K. Purdy-Payne, Jean F. Miner, Brandon Foles, Tien-Anh N. Tran

“…Due to their potential to cause bowel obstruction, intussusception, perforation, and hemorrhage, these lesions may ultimately require surgical resection to relieve symptoms or prevent or treat complications—however, surgical planning and patient counseling could be greatly improved by a preoperative diagnosis. …”
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Pneumothorax and Pneumomediastinum in Pregnancy: A Case Report by S. Sathiyathasan, K. Jeyanthan, G. Furtado, R. Hamid

“…In any future pregnancy due to the high risk of recurrence of pneumothorax Contemporary obstetric management should determine the method of delivery and continuous lumbar/epidural anesthesia should be used if at all feasible. Preconceptual counseling about this risk is vital, and women must be advised about potential serious adverse outcomes.…”
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Survey of the Factors Associated with a Woman's Choice to Have an Epidural for Labor Analgesia by Jennifer Harkins, Brendan Carvalho, Amy Evers, Sachin Mehta, Edward T. Riley

“…The strong association with partner preference and epidural use suggests this is an important factor when counseling pregnant women with regard to their decision to have a labor epidural.…”
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HIV Infection in Iran: An Update on Epidemiology, Testing and Gaps by Seyed Ahmad Seyed Alinaghi, Mohammad Mahdi Roozbahani, Behnam Farhoudi, Seyed Ali Dehghan Manshadi, Shayesteh Jahanfar

“…Expanding HIV testing and counselling services is vital for early diagnosis and treatment. …”
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Motion-Genetic Testing is Useful in the Diagnosis of Nonhereditary Pancreatic Conditions: Arguments Against the Motion by Jonathan A Cohn

“…Although CFTR and PSTI genetic testing can identify persons at an increased risk of pancreatitis, there are several reasons why the routine screening of individuals with nonhereditary pancreatitis is not recommended at this time: most disease-associated mutations are not detected by readily available techniques, genetic counselling guidelines do not exist, most patients with mutations do not develop pancreatitis and the results of testing do not affect the clinical management of pancreatitis.…”
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Opioids in Urology: How Well Are We Preventing Opioid Dependence and How Can We Do Better? by Danyon J. Anderson, David Y. Cao, Jessica Zhou, Matthew McDonald, Abrahim N. Razzak, Jamal Hasoon, Omar Viswanath, Alan D. Kaye, Ivan Urits

“…By shedding light on these opioid-free methods and prescription protocols, along with improved patient education and counselling, we hope to bring awareness to institutions and decrease unnecessary opioid use.…”
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