Case of Van-Wyk Grumbach syndrome

JMS SKIMS ◽  
2020 ◽  
Vol 23 (3) ◽  
Author(s):  
Vishnu Vasudevan ◽  
Arun Viswanath ◽  
Riaz Ahmad Misgar
Keyword(s):  
World Literature ◽  
Vaginal Bleeding ◽  
Case Reports ◽  
Primary Hypothyroidism ◽  
Delayed Puberty ◽  
Case Description ◽  
The Past ◽  
The Family ◽  
Primary Physicians ◽  
Initial Description

Background: Hypothyroidism in childhood typically leads to delayed puberty, rarely can it cause precocious puberty - this latter complex is eponymously known as Van-Wyk Grumbach syndrome. Case description: We report a case of a seven and a half-year-old girl who was referred with vaginal bleeding after a diagnosis of primary hypothyroidism and starting treatment with levothyroxine. This case report illustrates the typical features of this rare syndrome for primarily educational purposes. Many case reports of Van Wyk Grumbach syndrome have been published in world literature over the past seven decades after the initial description. Though the features of this syndrome are fairly well described previously, the understanding of pathophysiological mechanisms is speculative and still evolving. Clinical relevance: Further widespread awareness of the complex will encourage primary physicians and pediatricians to counsel the family of a child before starting treatment for hypothyroidism which will help avoid unnecessary worry and more importantly inadvertent procedures or intervention.

Family cluster of cholesteatoma

2006 ◽  
Vol 121 (1) ◽  
pp. 65-67 ◽  
Author(s):  
P Homøe ◽  
J Rosborg
Keyword(s):  
Otitis Media ◽  
World Literature ◽  
Rare Case ◽  
Case Reports ◽  
First Report ◽  
The Family ◽  
The World ◽  
Acquired Cholesteatoma ◽  
Hereditary Factors ◽  
History Of

Objective: We report an extremely rare case of family clustering of cholesteatoma.Method: Case reports and a review of the world literature concerning cholesteatoma and heredity are presented.Results: The family consists of parents and seven siblings of whom the mother and three sons have been surgically treated for cholesteatoma. All cholesteatomas in the family are acquired and all have a history of otitis media. Cholesteatomas occur with an incidence of 5/100 000 in Greenland, corresponding to two to three new cholesteatoma patients per year among the 57 000 inhabitants of Greenland. The family is very exceptional and interesting for further research concerning heredity in the pathogenesis of acquired cholesteatoma.Conclusion: To our knowledge this is the first report in the world literature of family clustering of acquired cholesteatoma. This case indicates that hereditary factors interplay with other factors in the pathogenesis of cholesteatoma.

Primary hypothyroidism followed by hyperthyroidism Five case reports

1984 ◽  
Vol 105 (2) ◽  
pp. 179-183 ◽  
Author(s):  
Ståle Skare ◽  
Harald M. M. Frey ◽  
Ragnvald Konow-Thorsen
Keyword(s):  
Case Reports ◽  
Primary Hypothyroidism ◽  
Graves Disease

Abstract. Five patients are described, who developed primary hypothyroidism between 25 and 57 years of age. They were all adequately treated with l-thyroxine. Graves' disease developed six months to 34 years later. Two had TSH binding inhibiting immunoglobulin (TBII) in their serum at this stage. All were treated with carbimazole, and 3 have experienced relapse upon withdrawal. Our patients are discussed in relation to the 16 cases previously reported. The pathogenesis of this condition is open to speculation.

Partial Adrenal Suppression with Prolonged Use of Depo-Provera

2019 ◽  
Vol 4 (1) ◽  
pp. 64
Author(s):  
Nur Aisyah Zainordin ◽  
Fatimah Zaherah Mohamed Shah ◽  
Rohana Abdul Ghani
Keyword(s):  
Weight Gain ◽  
Medroxyprogesterone Acetate ◽  
Side Effect ◽  
Case Reports ◽  
Adrenal Incidentaloma ◽  
Adrenal Suppression ◽  
Private Pharmacy ◽  
Significant Weight Gain ◽  
The Past ◽  
Depo Provera

A 49-year old patient presented with symptoms of adrenal suppression following an attempt to withdraw Depo-Provera or Depot Medroxyprogesterone Acetate (DMPA) injection. She had been receiving DMPA injections for the past 16 years for contraception. She was initially prescribed DMPA by her gynaecologist but later on began obtaining the medication directly from a private pharmacy without prior consultation from her gynaecologist. Clinically, she had been experiencing significant weight gain and appeared cushingoid. Blood investigations confirmed partial adrenal suppression with presence of an adrenal incidentaloma. This case reports a known side effect of DMPA but occurring at a much lower dose than previously described. It also highlights the need to increase the awareness of the insidious side effect of DMPA and to avoid unsupervised use of the drug.

An Overview on Phytochemical and Pharmacological Profile of Morus alba Linn.

2020 ◽  
Vol 16 ◽  
Author(s):  
Arpita Paul ◽  
Monami Rajiung ◽  
Kamaruz Zaman ◽  
Sushil Kumar Chaudhary ◽  
Hans Raj Bhat ◽  
...  
Keyword(s):  
Traditional Medicine ◽  
Morus Alba ◽  
Biologically Active ◽  
Pharmacological Profile ◽  
Pharmacological Activities ◽  
Significant Information ◽  
The Past ◽  
Comprehensive Information ◽  
The Family ◽  
White Mulberry

Background: Morus alba Linn. commonly known as white mulberry, belongs to the family Moraceae, is a promising traditional medicine. In Asia, besides its use in the preparation of delicacies, every part of this plant is utilized in traditional medicine. Over the past decade, studies related to identification and isolation of biologically active compounds, with flavonoids as the major class of phytoconstituents, from this plant has been reported. These phytoconstituents are not only found to be beneficial for the maintenance of general health but also are associated with a range of potential pharmacological activities such as antioxidant, anti-inflammatory, anti-diabetic, anticancer, hepatoprotective, cardioprotective, neuroprotective to name a few. Objective: This review aims to provide upgraded and comprehensive information regarding the phytochemical, ethnomedicinal use and pharmacological profile of the plant Morus alba Linn. Method: The significant information has been collected through various database viz. PubMed, Scopus, Web of Science, Science Direct based on the recent findings, using different terms of Morus alba. Results: The outcome of the study suggests that Morus alba is a multifunctional plant numerous phytochemicals, and possess a range of pharmacological activities. Conclusion: The data assembled on Morus alba will be beneficial to trigger research in various fields of pharmaceutical and allied science to explore the medicinal importance of this unique plant.

Factor X Deficiency Due to a Compound Heterozygosis Between a New Mutation (Gla72Asp) in Exon 2 and an Already Known one (Gly154Arg) in Exon 5: Factor X Mar Del Plata1)

2019 ◽  
Vol 19 (2) ◽  
pp. 169-173
Author(s):  
Antonio Girolami ◽  
Diana Noemi Garcia de Paoletti ◽  
Marcelo Leonardo Nenkies ◽  
Silvia Ferrari ◽  
Hugo Guglielmone
Keyword(s):  
Bleeding Tendency ◽  
Bleeding Disorders ◽  
Factor X ◽  
Substitution Therapy ◽  
New Mutation ◽  
Exon 2 ◽  
The Third ◽  
The Past ◽  
Factor X Deficiency ◽  
The Family

Background: Investigation of rare bleeding disorders in Latin-America. Objective: The report of a new case of FX deficiency due to a compound heterozygosis. Methods: Accepted clotting procedures were used. Sequencing of DNA was carried out by means of Applied Biosystems Instruments. Results: A compound heterozygote due to the association of a new mutation (Gla72Asp) with an already known mutation (Gly154Arg) of the FX gene is reported. The proposita is a 38 year old female who had a moderate bleeding tendency (menorrhagia, epistaxis, easy bruising). The proposita has never received substitution therapy but in the occasion of a uterine biopsy. The mother was asymptomatic but was a heterozygote for the new mutation. The father was asymptomatic but had deserted the family and could not be investigated. After this abandonment the mother of the proposita re-married with an asymptomatic man and she gave birth to a son who was asymptomatic but was also heterozygous for the new mutation (Gla72Asp). As a consequence it has to be assumed that the first husband of the mother of the proposita was heterozygous for the known mutation (Gly154Arg). Conclusion: This is the third case of a new mutation in the FX gene reported, during the past few years, in Argentina.

scholarly journals Adhesion GPCRs in Glioblastoma

2021 ◽  
Author(s):  
Gabriele Stephan ◽  
Niklas Ravn-Boess ◽  
Dimitris G Placantonakis
Keyword(s):  
G Protein ◽  
G Protein Coupled Receptors ◽  
The Past ◽  
Novel Treatment ◽  
The Family ◽  
Health And Disease ◽  
Basic Biology ◽  
G Protein Coupled ◽  
Potential Use ◽  
Receptor Family

Abstract Members of the adhesion family of G protein-coupled receptors (GPCRs) have received attention for their roles in health and disease, including cancer. Over the past decade, several members of the family have been implicated in the pathogenesis of glioblastoma. Here, we discuss the basic biology of adhesion GPCRs and review in detail specific members of the receptor family with known functions in glioblastoma. Finally, we discuss the potential use of adhesion GPCRs as novel treatment targets in neuro-oncology.

scholarly journals Digital Glomus Tumor: Bibliographic Review of the Studies Published over the Past 10 Years

2021 ◽  
Vol 49 (01) ◽  
pp. 046-055
Author(s):  
Victoria Hernández ◽  
Tania Lena ◽  
Eliana Camacho ◽  
Matías Craviotto
Keyword(s):  
Glomus Tumor ◽  
Case Reports ◽  
Low Frequency ◽  
Benign Neoplasm ◽  
Surgical Excision ◽  
Soft Tissue Tumors ◽  
Glomus Tumors ◽  
The Past ◽  
Pubmed Search ◽  
Magnetic Resonance Imaging Mri

AbstractGlomus tumors are a mostly benign neoplasm that constitutes less than 4% of upper-limb soft-tissue tumors. Its unspecific clinical presentation, added to its low frequency, leads to a late diagnosis.The objective of the present study is to update the clinical-paraclinical approach and the surgical technique used in the treatment.We carried out a literature review from 2014 to 2019 on digital glomus tumor in the hand in adult patients using the PubMed search engine.In most of the publications analyzed, the diagnosis was clinical, with a delay of 1 to 10 years. Plain radiography is the most requested study; of the 16 articles reporting its indication, only half evidenced compatible changes. Magnetic resonance imaging (MRI) was requested in 15 articles, presenting normal results in 3 of them. The treatment of choice was surgical excision using a transungual approach. Only 4 articles report recurrence after excision.Although there is diversity in the approach to these tumors, we conclude that the diagnosis is clinical, and the treatment surgical, and there is no consensus regarding the paraclinical indication. The information available comes mainly from case reports, publications that contribute to the generation of evidence for the clinical practice in rare diseases such as this one.

scholarly journals Sixty Years with the Chrysobalanaceae

2020 ◽  
Author(s):  
Ghillean T. Prance
Keyword(s):  
Economic Botany ◽  
Field Studies ◽  
Molecular Evidence ◽  
New Techniques ◽  
Conservation Ecology ◽  
The Past ◽  
New Findings ◽  
The Family ◽  
Molecular Studies ◽  
Economic Use

AbstractA review is given of the studies of Ghillean Prance and associates on the Chrysobalanaceae over the past sixty years. This has focussed on defining the generic boundaries in the family and on monographic work with a worldwide approach to this pantropical family. The importance of field studies for work on monographs and Floras is emphasized. Monographs are still the basis for much work on conservation, ecology and economic botany and are needed as a foundation for molecular studies. The importance of being open to experimenting with new techniques and as a result being willing to change the taxonomy in accordance with new findings is demonstrated and emphasized. The twelve genera of the Chrysobalanaceae at the beginning of this career-long study have now increased to twenty-eight in order to present a much better monophyletic and evolutionary arrangement based on recent molecular evidence. In particular it was necessary to divide and rearrange the originally large genera Parinari and Licania into a number of smaller segregate genera. All known species were included in a worldwide monograph published in 2003. A brief review of the economic use for the family is given.

scholarly journals Enduring Cell Lines: Parents’ Experiences of Postmortem Tumor Banking in Childhood Cancer

2021 ◽  
pp. 107484072110014
Author(s):  
Nancy J. Moules ◽  
Catherine M. Laing ◽  
Wendy Pelletier ◽  
Gregory M. T. Guilcher ◽  
Jennifer A. Chan
Keyword(s):  
Childhood Cancer ◽  
Pediatric Oncology ◽  
Common Factors ◽  
Living Cells ◽  
The Past ◽  
The Family ◽  
Deceased Donors ◽  
Cure Rates ◽  
The Impact ◽  
Parents Experiences

While cure rates in pediatric oncology have improved over the past 30 years, childhood cancer remains the second leading cause of death in children aged 1 to 14. Developing therapies often require using cancerous tissues, which may come from deceased donors. Tumor banks collect, store, and distribute these donated samples. While tumor banking is more common, factors that contribute to parents’ decision and the impact of it on the family are not well understood. The purpose of this hermeneutic study was to understand the meaning and impact of tumor banking for parents of children who have died from cancer. Findings suggest that parents donating their child’s tumors unexpectedly found a sense of meaning in their loss. They also found a legacy of their child’s life; the living cells in some ways assisted the parents with grief. Aspects of this sensitive conversation and decision are discussed from the perspective of the parents’ experiences.

scholarly journals Distal Humerus as Delayed Site of Metastasis from Small Cell Carcinoma of Gallbladder

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Mutahir A. Tunio ◽  
Mushabbab AlAsiri ◽  
Asma Mohammed F. Ali ◽  
Eyad Fawzi AlSaeed ◽  
Muhammad Shuja ◽  
...  
Keyword(s):  
Cell Carcinoma ◽  
Small Cell Carcinoma ◽  
World Literature ◽  
Case Reports ◽  
Locally Advanced ◽  
Distal Humerus ◽  
Small Cell ◽  
Rare Entity ◽  
Dismal Prognosis ◽  
Advanced Stages

Background. Small cell carcinoma (SCC) of the gallbladder is a rare entity and is often seen in elderly women. SCC of gallbladder is typically a nonsecretory carcinoid tumor without overt clinical symptoms and is often discovered at advanced stages. SCC of gallbladder carries a dismal prognosis as compared to SCC of lung and adenocarcinoma of gallbladder. To date, only 73 case reports have been published in the world literature.Case Presentation. Herein, we report a case of a 73-year-old Saudi woman who presented with one week history of right upper quadrant abdominal pain and obstructive jaundice and was found to be a case of locally advanced, metastatic SCC of gallbladder cT4N1M1 (liver, para-aortic lymph nodes, and bone). The patient was treated with neoadjuvant etoposide and cisplatin (EP) chemotherapy three cycles after biliary stenting followed by radical cholecystectomy, lymphadenectomy, and adjuvant EP chemotherapy and then one year later developed distal humerus osseous metastasis.Conclusion. SCC of the gallbladder is very rare entity and is often seen at advanced stages. Osseous metastases of peripheral skeleton from SCC gallbladder are rarely reported. Surgery is curative option but only for early stage tumors. Incorporation of chemotherapy along with radical resection increases the survival.

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