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Familial Hyperinsulinism Due to HNF4A Deficiency and Benign Premature Adrenarche: a Case Report
Case Report Familial Hyperinsulinism due to HNF4A Deficiency and Benign Premature Adrenarche: A Case Report Edward Compton,1 David H. Geller,2 Alaina P. Vidmar MD.3 Abstract Background: Familial Hyperinsulinism due to HNF4A deficiency (FHI-HNF4A) is a form of diazoxide-sensitive, diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia, and a propensity to develop Maturity-Onset Diabetes of the Young type 1 (MODY1). The association between FHI-HNF4A deficiency and benign premature adrenarche (BPA) is unknown. The Case: We report the case of a 5-year-old girl with FHI-HNF4A, controlled on diazoxide, who presented with BPA and Tanner stage 3 pubic hair associated with body odor and acne. Work-up revealed elevated dehydroepiandrosterone sulfate (DHEAS), elevated free testosterone, and advanced bone age. Insulin levels were elevated in the setting of normal fasting blood glucose. We discuss the possible hormonal underpinnings of hyperandrogenism. Conclusion: Though the underlying pathophysiology of this phenotype is unclear, a possible synergistic mechanism exists between insulin-induced hyperandrogenism and HNF4A deficiency leading to a transient decrease of SHBG and thus increased free testosterone levels. Further investigation is required to determine the association between HNF4A dysfunction and BPA. Key Words: Hyperinsulinism; Congenital Hyperinsulinism; Adrenarche; HNF4A; Hyperandrogenism (Source: MeSH-NLM). Introduction Congenital hyperinsulinism (CHI) is due to a variety of etiologies that Highlights: result in dysregulated insulin release from pancreatic β-cells. There are Familial Hyperinsulinism due to HNF4A deficiency (FHI-HNF4A) is a two histological variants of CHI, focal and diffuse, which differ in the form of diazoxide-sensitive; diffuse hyperinsulinism, characterized by extent of pancreatic involvement. -
Approach to a Case of Congenital Heart Disease
BAI JERBAI WADIA HOSPITAL FOR CHILDREN PEDIATRIC CLINICS FOR POST GRADUATES PREFACE This book is a compilation of the discussions carried out at the course for post-graduates on ” Clinical Practical Pediatrics” at the Bai Jerbai Wadia Hospital for Children, Mumbai. It has been prepared by the teaching faculty of the course and will be a ready-reckoner for the exam-going participants. This manual covers the most commonly asked cases in Pediatric Practical examinations in our country and we hope that it will help the students in their practical examinations. An appropriately taken history, properly elicited clinical signs, logical diagnosis with the differential diagnosis and sound management principles definitely give the examiner the feeling that the candidate is fit to be a consultant of tomorrow. Wishing you all the very best for your forthcoming examinations. Dr.N.C.Joshi Dr.S.S.Prabhu Program Directors. FOREWARD I am very happy to say that the hospital has taken an initiative to organize this CME for the postgraduate students. The hospital is completing 75 years of its existence and has 2 done marvelous work in providing excellent sevices to the children belonging to the poor society of Mumbai and the country. The hospital gets cases referred from all over the country and I am proud to say that the referrals has stood the confidence imposed on the hospital and its faculty. We do get even the rarest of the rare cases which get diagnosed and treated. I am sure all of you will be immensely benefited by this programme. Wish you all the best in your examination and career. -
The Lymphoma and Multiple Myeloma Center
The Lymphoma and Multiple Myeloma Center What Sets Us Apart We provide multidisciplinary • Experienced, nationally and internationally recognized physicians dedicated exclusively to treating patients with lymphoid treatment for optimal survival or plasma cell malignancies and quality of life for patients • Cellular therapies such as Chimeric Antigen T-Cell (CAR T) therapy for relapsed/refractory disease with all types and stages of • Specialized diagnostic laboratories—flow cytometry, cytogenetics, and molecular diagnostic facilities—focusing on the latest testing lymphoma, chronic lymphocytic that identifies patients with high-risk lymphoid malignancies or plasma cell dyscrasias, which require more aggresive treatment leukemia, multiple myeloma and • Novel targeted therapies or intensified regimens based on the other plasma cell disorders. cancer’s genetic and molecular profile • Transplant & Cellular Therapy program ranked among the top 10% nationally in patient outcomes for allogeneic transplant • Clinical trials that offer tomorrow’s treatments today www.roswellpark.org/partners-in-practice Partners In Practice medical information for physicians by physicians We want to give every patient their very best chance for cure, and that means choosing Roswell Park Pathology—Taking the best and Diagnosis to a New Level “ optimal front-line Lymphoma and myeloma are a diverse and heterogeneous group of treatment.” malignancies. Lymphoid malignancy classification currently includes nearly 60 different variants, each with distinct pathophysiology, clinical behavior, response to treatment and prognosis. Our diagnostic approach in hematopathology includes the comprehensive examination of lymph node, bone marrow, blood and other extranodal and extramedullary tissue samples, and integrates clinical and diagnostic information, using a complex array of diagnostics from the following support laboratories: • Bone marrow laboratory — Francisco J. -
The Right to Sexual and Reproductive Health: Challenges and Possibilities During Covid-19
10 June 2021 THE RIGHT TO SEXUAL AND REPRODUCTIVE HEALTH: CHALLENGES AND POSSIBILITIES DURING COVID-19 Submitted to: Dr Tlaleng Mofokeng Special Rapporteur on the right of everyone to the enjoyment of the highest attainable standard of physical and mental health Submission by: Gender, Health and Justice Research Unit, University of Cape Town (UCT) Authors: Nasreen Solomons & Harsha Gihwala Contributors: Professor Lillian Artz, Ms Millicent Ngubane, Ms Kassa Maksudi & Dr Mahlogonolo Thobane Contact Details Type of Stakeholder (please select Member State one) Observer State X Other (please specify) Research Unit based in Member State Name of State South Africa Name of Survey Respondent Gender, Health and Justice Research Unit Email [email protected] / [email protected] Can we attribute responses to this X Yes No questionnaire to your State publicly*? Comments (if any): *On OHCHR website, under the section of SR health I INTRODUCTION 1. We refer to the call of the UN Special Rapporteur (‘the SR’) on the right of everyone to the enjoyment of the highest standard of physical and mental health, inviting submissions to inform her next thematic report to the UN General Assembly in October 2021. 2. The report’s focus is The right of everyone to sexual and reproductive health – challenges and opportunities during COVID-19. We appreciate the opportunity to engage with the questions posed by the SR. 3. The submission of the Gender, Health and Justice Research Unit (‘GHJRU’) will focus on the provision of safe and legal abortion services during the pandemic, with an emphasis on the opportunity to expand access to abortion services through telemedicine.1 4. -
Basilar Artery and Its Branches Called Pontine Arteries
3 Farah Mohammad Ahmad Al-Tarefe Mohammad Al salem تذكر أ َّن : أولئك الذين بداخلهم شيء يفوق كل الظروف ، هم فقط من استطاعوا أ ّن يحققوا انجازاً رائعاً .... كن ذا همة Recommendation: Study this sheet after you finish the whole anatomy material . Dr.Alsalem started talking about the blood supply for brain and spinal cord which are mentioned in sheet#5 so that we didn't write them . 26:00-56:27/ Rec.Lab#3 Let start : Medulla oblengata : we will study the blood supply in two levels . A- Close medulla (central canal) : It is divided into four regions ; medial , anteromedial , posteriolateral and posterior region. Medially : anterior spinal artery. Anteromedial: vertebral artery posterolateral : posterior inferior cerebellar artery ( PICA). Posterior : posterior spinal artery which is a branch from PICA. B-Open medulla ( 4th ventricle ) : It is divided into four regions ; medial , anteromedial , posteriolateral region. Medially : anterior spinal artery. Anteromedial: vertebral artery posterolateral : posterior inferior cerebellar artery ( PICA). 1 | P a g e Lesions: 1- Medial medullary syndrome (Dejerine syndrome): It is caused by a lesion in anterior spinal artery which supplies the area close to the mid line. Symptoms: (keep your eyes on right pic). Contralateral hemiparesis= weakness: the pyramid will be affected . Contralateral loss of proprioception , fine touch and vibration (medial lemniscus). Deviation of the tongue to the ipsilateral side when it is protruded (hypoglossal root or nucleus injury). This syndrome is characterized by Alternating hemiplegia MRI from Open Medulla (notice the 4th ventricle) Note :The Alternating hemiplegia means ; 1- The upper and lower limbs are paralyzed in the contralateral side of lesion = upper motor neuron lesion . -
Alternating Hemiplegia of Childhood Syndrome
orphananesthesia Anaesthesia recommendations for Alternating Hemiplegia of Childhood syndrome Disease name: Alternating hemiplegia of childhood syndrome (AHC) ICD 10: G98 Synonyms: AHC syndrome (An ATP1A3-related neurologic disorder). AHC was named for its most striking and diagnostic motor symptom; however, the range of manifestations show it to be a CNS disorder affecting function broadly in various brain circuits, heart and the disease evolves with age. Disease summary: AHC is a very rare neurological disorder first described in 1971 which has received increasing interest recently [1]. It is characterized by hemiplegia of either side of the body, paroxysmal tonic or dystonic spells, oculomotor abnormalities and developmental delay.2-4 Onset occurs before 18 months of age. This condition is diagnosed based on the occurrence of the above combination of symptoms, is usually due to de novo pathogenic variant in ATP1A3 and has also been reported in a few families [2-3]. Onset and progression of neurological symptoms have been well characterized. While the course and severity of deficits can vary considerably, there appears to be progression over time, at least in some patients. The differential diagnosis of AHC includes familial hemiplegic migraine (FHM) syndromes (e.g. FHM1-CACNA1A; FHM2-ATP1A2), episodic ataxia type 6, glutamate transporter disorders (SLC1A3), glucose transporter defects, GLUT1 deficiency (SLC2A1), infantile onset epileptic encephalopathies, severe myoclonic epilepsy of infancy (Dravet syn- drome), SCN1A mutations, mitochondrial disorders, and disorders of dopamine biosynthesis/ neurotransmitter disorders. The prevalence has been estimated at 1:1,000,000 with most cases being due to de novo mutations [4-6]. Triggers in AHC and other ATP1A3 related diseases that can induce paroxysmal episodes in AHC are frequent. -
Program Nr: 1 from the 2004 ASHG Annual Meeting Mutations in A
Program Nr: 1 from the 2004 ASHG Annual Meeting Mutations in a novel member of the chromodomain gene family cause CHARGE syndrome. L.E.L.M. Vissers1, C.M.A. van Ravenswaaij1, R. Admiraal2, J.A. Hurst3, B.B.A. de Vries1, I.M. Janssen1, W.A. van der Vliet1, E.H.L.P.G. Huys1, P.J. de Jong4, B.C.J. Hamel1, E.F.P.M. Schoenmakers1, H.G. Brunner1, A. Geurts van Kessel1, J.A. Veltman1. 1) Dept Human Genetics, UMC Nijmegen, Nijmegen, Netherlands; 2) Dept Otorhinolaryngology, UMC Nijmegen, Nijmegen, Netherlands; 3) Dept Clinical Genetics, The Churchill Hospital, Oxford, United Kingdom; 4) Children's Hospital Oakland Research Institute, BACPAC Resources, Oakland, CA. CHARGE association denotes the non-random occurrence of ocular coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies and deafness (OMIM #214800). Almost all patients with CHARGE association are sporadic and its cause was unknown. We and others hypothesized that CHARGE association is due to a genomic microdeletion or to a mutation in a gene affecting early embryonic development. In this study array- based comparative genomic hybridization (array CGH) was used to screen patients with CHARGE association for submicroscopic DNA copy number alterations. De novo overlapping microdeletions in 8q12 were identified in two patients on a genome-wide 1 Mb resolution BAC array. A 2.3 Mb region of deletion overlap was defined using a tiling resolution chromosome 8 microarray. Sequence analysis of genes residing within this critical region revealed mutations in the CHD7 gene in 10 of the 17 CHARGE patients without microdeletions, including 7 heterozygous stop-codon mutations. -
Treatment of Hyperhidrosis Dr
“ Finding a solution to my sweating problem has With advanced technology and skilled hands, wholly changed my life. After having the Botox Matthew R. Kelleher, MD provides a full Premier Dermatology spectrum of services and procedures, including: for hyperhidrosis treatment, I am a thousand • Liposculpture times more confi dent and no longer afraid to • Botox, Juvéderm®, and Voluma™ Treatment TREATMENT OF lift my arms and be completely myself. I am so of Wrinkles thankful that this treatment exists!” • Laser Removal of Age Spots and Freckles HYPERHIDROSIS • Laser Facial Rejuvenation - Olivia • Laser Hair Removal Botox for hyperhidrosis patient • Laser Treatments of Rosacea, Facial Redness, and Spider Veins • Laser Scar Reduction • Laser Treatment of Stretch Marks “ Suffering from axillary hyperhidrosis, I thought • Laser Tattoo Removal • Laser Removal of Vascular Birthmarks there was nothing I could do. My condition • Laser and Photodynamic Treatment of Acne made me reluctant to participate in any social • Sclerotherapy for Leg Veins environment. Every day was a struggle until • Thermage® Radiofrequency Tissue Tightening liposuction for hyperhidrosis changed my life! • Microdermabrasion • Botox and Liposculpture Treatment of Hyperhidrosis Dr. Kelleher gave me the confi dence to feel • Sculpsure and Kybella for nonsurgical body sculpting comfortable in my own skin, and I never have to worry about embarrassing sweat stains again!” - Matthew Liposculpture for hyperhidrosis of the underarms patient “ After dealing with my excessive sweating for many years, without fully understanding it was a medical condition, Dr. Kelleher took the time to explain the treatment options available along with their results. I experienced immediate, positive results after my fi rst treatment which gave me a new sense of confi dence and removed the insurmountable stress I carried daily. -
Puberty Journal for Facilitators
JOURNAL Puberty is the bridge between childhood and adulthood. Puberty can start as early as __8 or 9__ years old or as late as__18 or 19__ years old. The average age for girls is ___10.5__ years old. The average age for boys is ___11.5___ years old. Puberty lasts for about _3 to 5__ years. The __pituitary gland__ in the brain signals the production of new hormones or chemicals in the body. Females tend Males tend to have more to have more estrogen and testosterone progesterone hormone. hormones. 2 Set up your board/wall/floor/etc. so that you have three columns for the vocabulary words provided from DMNS: BOYS BOTH GIRLS The DMNS educator will instruct your students to take the vocabulary cards and arrange them into the appropriate column. You should have these cards cut prior to the program. If the students get wrong answers, that is okay and part of the learning process. Once your students see the correct list from the DMNS educator’s presentation, have your students correct their list. It should look as follows after the corrections: BOYS BOTH GIRLS Sperm Production Growth Egg Maturation Erection Voice Changes Menstruation Ejaculation Body Shape Changes Breast Development Nocturnal Emission Interest Changes Emotional Changes Acne Body Hair Body Odor Please keep the list up during the program as the DMNS instructor will be referencing it during the class. Graph the Growth. Analyzing the Data: What do you notice about the girls growth pattern? ___________________________________________________ ___________________________________________________ What do you notice about the boys growth pattern? __________________________________________________ __________________________________________________ 3 NOTES: 4 Draw the actual size of a human egg in the box below: NOTES: 5 Everyone has emotions. -
Therapeutic Effect and Mechanism of Ibrutinib Combined with Dexametha- Sone on Multiple Myeloma
ORIGINAL ARTICLES Hematology Department of The Second Hospital1, Cheeloo College of Medicine, Shandong University; Department of Hematology of Jining No. 1 People’s Hospital2; Institute of Biotherapy for Hematological Malignancies of Shandong University3; Shandong University-Karolinska Institute Collaborative Laboratory for Stem Cell Research4; Hematology Department of Linyi Central Hospital5; Hematology Department of Binzhou Medical University Hospital6; Institute of Medical Sciences, The Second Hospital, Cheeloo College of Medicine, Shandong University7, Jinan, Shandong, China Therapeutic effect and mechanism of ibrutinib combined with dexametha- sone on multiple myeloma SHENGLI LI1,2, LIKUN SUN1,3,4, QIAN ZHOU1,5, SHUO LI1,6, XIAOLI LIU1,3,4, JUAN XIAO1,3,4, YAQI XU1,3,4, FANG WANG7, YANG JIANG1,3,4,*, CHENGYUN ZHENG1,3,4 Received November 14, 2020, accepted December 2020 *Correspondence author: Yang Jiang, Hematology Department, the Second Hospital of Shandong University, 247th of Beiyuan Rd., Jinan, Shandong, China [email protected] Pharmazie 76: 92-96 (2021) doi: 10.1691/ph.2021.0917 Ibrutinib is an irreversible inhibitor of Bruton’s tyrosine kinase and has proven to be an effective agent for B-cell-mediated hematological malignancies, including multiple myeloma (MM). Several clinical trials of ibrutinib treatment combined with dexamethasone (DXMS) for relapsed MM have demonstrated high response rates, however, the mechanism still remains unclear. In this study, we explored the therapeutic effect and mechanism of ibrutinib combined with DXMS on MM in vitro and vivo. The apoptosis of MM cell lines and mononuclear cells from MM patients’ bone marrow induced by ibrutinib combined with DXMS was detected by flow cytometry and the expression of apoptosis-related proteins were detected by Western blot. -
RD-Action Matchmaker – Summary of Disease Expertise Recorded Under
Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping Thematic Reported expertise of those completing the EURORDIS Member perspectives on Grouping matchmaker under each heading Grouping RD Thematically Rare Bone Achondroplasia/Hypochondroplasia Achondroplasia Amelia skeletal dysplasia’s including Achondroplasia/Growth hormone cleidocranial dysostosis, arthrogryposis deficiency/MPS/Turner Brachydactyly chondrodysplasia punctate Fibrous dysplasia of bone Collagenopathy and oncologic disease such as Fibrodysplasia ossificans progressive Li-Fraumeni syndrome Osteogenesis imperfecta Congenital hand and fore-foot conditions Sterno Costo Clavicular Hyperostosis Disorders of Sex Development Duchenne Muscular Dystrophy Ehlers –Danlos syndrome Fibrodysplasia Ossificans Progressiva Growth disorders Hypoparathyroidism Hypophosphatemic rickets & Nutritional Rickets Hypophosphatasia Jeune’s syndrome Limb reduction defects Madelung disease Metabolic Osteoporosis Multiple Hereditary Exostoses Osteogenesis imperfecta Osteoporosis Paediatric Osteoporosis Paget’s disease Phocomelia Pseudohypoparathyroidism Radial dysplasia Skeletal dysplasia Thanatophoric dwarfism Ulna dysplasia Rare Cancer and Adrenocortical tumours Acute monoblastic leukaemia Tumours Carcinoid tumours Brain tumour Craniopharyngioma Colon cancer, familial nonpolyposis Embryonal tumours of CNS Craniopharyngioma Ependymoma Desmoid disease Epithelial thymic tumours in -
Vaginal Health After Breast Cancer: a Guide for Patients
Information Sheet Vaginal health after breast cancer: A guide for patients Key points • Women who have had breast cancer treatment before menopause may develop a range of symptoms related to low oestrogen levels, while post-menopausal women may have a worsening of their symptoms. • These symptoms relate to both the genital and urinary tracts. • A range of both non-prescription/lifestyle and prescription treatments is available. Discuss your symptoms with your specialist or general practitioner as they will be able to advise you, based on your individual situation. • Women who have had breast cancer treatment before menopause might find they develop symptoms such as hot flushes, night sweats, joint aches and vaginal dryness. • These are symptoms of low oestrogen, which occur naturally with age, but may also occur in younger women undergoing treatment for breast cancer. These changes are called the genito-urinary syndrome of menopause (GSM), which was previously known as atrophic vaginitis. • Unlike some menopausal symptoms, such as hot flushes, which may go away as time passes, vaginal dryness, discomfort with intercourse and changes in sexual function often persist and may get worse with time. • The increased use of adjuvant treatments (medications that are used after surgery/chemotherapy/radiotherapy), which evidence shows reduce the risk of the cancer recurring, unfortunately leads to more side-effects. • Your health and comfort are important, so don’t be embarrassed about raising these issues with your doctor. • This Information Sheet offers some advice for what you can do to maintain the health of your vagina, your vulva (the external genitals) and your urethra (outlet from the bladder), with special attention to the needs of women who have had breast cancer treatment.