DOCSLIB.ORG

PTPRF Is Disrupted in a Patient with Syndromic Amastia

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
PTPRF Is Disrupted in a Patient with Syndromic Amastia Ausavarat et al. BMC Medical Genetics 2011, 12:46 http://www.biomedcentral.com/1471-2350/12/46 RESEARCHARTICLE Open Access PTPRF is disrupted in a patient with syndromic amastia Surasawadee Ausavarat1,2,3, Siraprapa Tongkobpetch2,3, Verayuth Praphanphoj4, Charan Mahatumarat5, Nond Rojvachiranonda5, Thiti Snabboon6, Thomas C Markello7, William A Gahl7, Kanya Suphapeetiporn2,3* and Vorasuk Shotelersuk2,3 Abstract Background: The presence of mammary glands distinguishes mammals from other organisms. Despite significant advances in defining the signaling pathways responsible for mammary gland development in mice, our understanding of human mammary gland development remains rudimentary. Here, we identified a woman with bilateral amastia, ectodermal dysplasia and unilateral renal agenesis. She was found to have a chromosomal balanced translocation, 46,XX,t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and studied its consequences. Methods: Characterization of the breakpoints was performed by molecular cytogenetic techniques. The interrupted gene was further analyzed using quantitative real-time PCR and western blotting. Mutation analysis and high- density SNP array were carried out in order to find a pathogenic mutation. Allele segregations were obtained by haplotype analysis. Results: We enabled to identify its breakpoint on chromosome 1 interrupting the protein tyrosine receptor type F gene (PTPRF). While the patient’s mother and sisters also harbored the translocated chromosome, their non- translocated chromosomes 1 were different from that of the patient. Although a definite pathogenic mutation on the paternal allele could not be identified, PTPRF’s RNA and protein of the patient were significantly less than those of her unaffected family members. Conclusions: Although ptprf has been shown to involve in murine mammary gland development, no evidence has incorporated PTPRF in human organ development. We, for the first time, demonstrated the possible association of PTPRF with syndromic amastia, making it a prime candidate to investigate for its spatial and temporal roles in human breast development. Keywords: amastia athelia, development of breasts and nipples, ectodermal dysplasia, renal agenesis, balanced chromosome translocation, PTPRF, LAR Background (Additional file 1, Table S1). Amastia has likely been Excellent progress has been made in defining the signal- selected against in human evolution, but its occurrence ing pathways responsible for mammary gland develop- provides an invaluable means to identify genes involved ment in mice [1], current knowledge about human in human breast development. mammary gland development is however very restricted Amastia is the complete absence of breast which is the and requires further elucidation. This may be related to result of complete failure of mammary ridge to develop the extreme rarity of absence of breast or amastia, with at about 6 weeks in utero [2]. In addition, there is a lack only about 62 patients reported in the literature of breast development during puberty whereas other secondary sexual characters and fertility are normal [2]. * Correspondence: [email protected] Amastia can be isolated or syndromic. Syndromes asso- 2Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty ciated with the absence of breasts and nipples include of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand ectodermal dysplasia of the tricho-odonto-onychial type Full list of author information is available at the end of the article © 2011 Ausavarat et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Ausavarat et al. BMC Medical Genetics 2011, 12:46 Page 2 of 7 http://www.biomedcentral.com/1471-2350/12/46 (MIM# 129510), acral-renal-ectodermal-dysplasia-lipoa- trophic-diabetes (AREDYLD syndrome) (MIM# 207780), and the scalp-ear-nipple syndrome (SEN or Finlay- Marks syndrome) (MIM# 181270). The latter is the most common amastia-associated syndrome. Addition- ally, renal involvement has been reported in some cases of scalp-ear-nipple syndrome [3,4]. In familial cases of amastia, both autosomal dominant and autosomal reces- sive inheritances have been reported (Additional file 1, Table S1). Here we reported an 18-year-old female with syndro- mic amastia who had a reciprocal balanced transloca- tion, 46, XX, t(1;20)(p34.1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and stu- died its consequences. Methods Clinical descriptions We identified an 18-year-old Thai woman who pre- sented to plastic surgeons for total breast reconstruc- tion. Menarche occurred at age 14 years and menstruation was regular. She had been generally healthy with normal intelligence. Height was normal (157 cm, 50th centile). Blood pressure was 140/90 mmHg. The patient had epicanthal folds, small and cup- shaped pinnae, absence of all four upper incisors (small, brown and easily decayed) after extraction at age 15 years (Figure 1A), bilateral absence of breasts and nip- ples, normal pectoralis muscles, brittle nails and normal external genitalia. Ultrasonography and computed tomo- graphy of the kidneys revealed absence of the left kidney and left renal artery, yet normal right kidney and uterus (Figure 1B). A renal function study by a post captopril Tc-99 mMAG3 test showed normal right kidney func- tion with no demonstrable left kidney. The patient was the third child with an elder brother, an elder sister and Figure 1 Clinical features of the proband.(A)Faceshows a younger sister. Her father was deceased. No other absence of all four upper incisors (small, brown and easily decayed) family member was affected. after extraction at age 15 years, epicanthal folds, and small cup- shaped pinnae. (B) Computerized tomography of kidneys shows absence of the left kidney and its renal artery. Karyotype Analysis Peripheral blood samples from the patient and her family members were obtained after written informed consent. mapview/ and obtained from the BACPAC Resources Metaphase chromosomes were obtained from phytohe- Center (BPRC, Oakland, CA) (Additional file 1, Table magglutinin (PHA)-stimulated peripheral blood lympho- S2). BACs, PACs, or long-range PCR (10 kb each) pro- cytes. G-banding was performed using standard methods. ducts were labeled by nick translation with Spectrum The karyotype was at a resolution of 550 bands. Green or Spectrum Orange according to manufacturer’s protocols (Abbott Molecular/Vysis, Des Plains, IL). Fluorescence in situ hybridization (FISH) Labeled probes were denatured and hybridized to meta- Cell suspensions from the phytohemagglutinin (PHA)- phase spreads on the microscope slide. stimulated peripheral blood lymphocytes were used in all FISH experiments. Probes mapping to the region of Generation of FISH probes using long-range PCR the cytogenetically determined breakpoints were selected Three primer pairs were chosen from the genomic from the Mapviewer NCBI http://www.ncbi.nlm.nih.gov/ sequence of breakpoint-spanning clone on chromosome Ausavarat et al. BMC Medical Genetics 2011, 12:46 Page 3 of 7 http://www.biomedcentral.com/1471-2350/12/46 1 (RP5-1029K14) (Additional file 1, Table S3). Each using forward primer; 5’-GTGAAGGTCGGAGT- probe was overlapped and used for subsequent FISH CAACGG-3’, reverse primer; 5’-TCAATGAAGGGGT- analysis. We used 200 ng of plasmid DNA, 1X Ampli- CATTGATGG-3’ and probe; HEX-CGCCTGGTCA buffer C (Vivantis, Oceanside, CA), 160 mM (NH4)2SO4, CCAGGGCTGC-BHQ1. 500 mM Tris-HCl,17.5 mM MgCl2 and stabilizers, 0.4 mM dNTPs, 0.4 μM of each primer and 2.5 U Perpetual Western Blot Analysis OptiTaq DNA polymerase (Vivantis, Oceanside, CA) in Lymphoblastoid protein was extracted using ice-cold a total volume of 50 μl. The PCR amplification was per- RIPA lysis buffer with Halt protease inhibitor cocktail formed as follows: initial denaturation at 95°C for 15 (Pierce, Roxford, IL). Protein concentration was deter- minutes, followed by 40 cycles of denaturation at 95°C mined using the BCA protein assay reagent (Pierce, for 30 seconds. The annealing step was performed at Roxford, IL). Western blot was performed in triplicate. optimal annealing temperature for each specific primer Protein extract of 100 μg was electrophoresed, trans- for 30 seconds. The extension was at 72°C for 11 min- ferred to PVDF membrane and incubated with 1:100 utes and the final extension was at 72°C for 10 minutes. anti-PTPRF (BD Transduction Laboratory, San Jose, CA) and 1:1000 goat anti-mouse IgG-HRP: sc-2005 Analysis of repetitive elements within the breakpoint (Santa Cruz Biotechnology, Inc., Santa Cruz, CA). The region membrane was stripped and reprobed with 1:1000 anti- We screened DNA sequences for interspersed repeats GAPDH (Trevigen, Gaitherburgs, MD) and 1:1000 goat and low complexity DNA sequences in the breakpoint anti-rabbit IgG-HRP: sc-2030 (Santa Cruz Biotechnol- region using RepeatMasker available at http://www. ogy, Inc., Santa Cruz, CA). PTPRF expression was nor- repeatmasker.org/. malizedwithGAPDHandcomparedwiththatofa control. Establishment of Ebstein-Barr virus immortalization of human B-lymphocytes Mutation analysis We isolated Peripheral
Load more

Recommended publications
  • Breast-Reconstruction-For-Deformities
    ASPS Recommended Insurance Coverage Criteria for Third-Party Payers Breast Reconstruction for Deformities Unrelated to AMERICAN SOCIETY OF PLASTIC SURGEONS Cancer Treatment BACKGROUND Burn of breast: For women, the function of the breast, aside from the brief periods when it ■ Late effect of burns of other specified sites 906.8 serves for lactation, is an organ of female sexual identity. The female ■ Acquired absence of breast V45.71 breast is a major component of a woman’s self image and is important to her psychological sense of femininity and sexuality. Both men and women TREATMENT with abnormal breast structure(s) often suffer from a severe negative A variety of reconstruction techniques are available to accommodate a impact on their self esteem, which may adversely affect his or her well- wide range of breast defects. The technique(s) selected are dependent on being. the nature of the defect, the patient’s individual circumstances and the surgeon’s judgment. When developing the surgical plan, the surgeon must Breast deformities unrelated to cancer treatment occur in both men and correct underlying deficiencies as well as take into consideration the goal women and may present either bilaterally or unilaterally. These of achieving bilateral symmetry. Depending on the individual patient deformities result from congenital anomalies, trauma, disease, or mal- circumstances, surgery on the contralateral breast may be necessary to development. Because breast deformities often result in abnormally achieve symmetry. Surgical procedures on the opposite breast may asymmetrical breasts, surgery of the contralateral breast, as well as the include reduction mammaplasty and mastopexy with or without affected breast, may be required to achieve symmetry.
    [Show full text]
  • Congenital Problems in the Pediatric Breast Disclosure
    3/20/2019 Congenital Problems in the Pediatric Breast Alison Kaye, MD, FACS, FAAP Associate Professor Pediatric Plastic Surgery Children’s Mercy Kansas City © The Children's Mercy Hospital 2017 1 Disclosure • I have no relevant financial relationships with the manufacturers(s) of any commercial products(s) and/or provider of commercial services discussed in this CME activity • I do not intend to discuss an unapproved/investigative use of a commercial product/device in my presentation 1 3/20/2019 Pediatric Breast • Embryology • Post-natal development • Hyperplasia • Hypoplasia • Deformation Embryology 4th week of gestation: 2 ridges of thickened ectoderm appear on the ventral surface of the embryo between the limb buds 2 3/20/2019 Embryology By the 6th week ridges disappear except at the level of the 4th intercostal space Breast Embryology In other species multiple paired mammary glands develop along the ridges – Varies greatly among mammalian species – Related to the number of offspring in each litter 3 3/20/2019 Neonatal Breast • Unilateral or bilateral breast enlargement seen in up to 70% of neonates – Temporary hypertrophy of ductal system • Circulating maternal hormones • Spontaneous regression within several weeks Neonatal Breast • Secretion of “witches’ milk” – Cloudy fluid similar to colostrum – Water, fat, and cellular debris • Massaging breast can exacerbate problem – Persistent breast enlargement – Mastitis – Abscess 4 3/20/2019 Thelarche • First stage of normal secondary breast development – Average age of 11 years (range 8-15 years) • Estradiol causes ductal and stromal tissue growth • Progesterone causes alveolar budding and lobular growth Pediatric Breast Anomalies Hyperplastic Deformational Hypoplastic 5 3/20/2019 Pediatric Breast Anomalies Hyperplastic Deformational Hypoplastic Polythelia Thoracostomy Athelia Polymastia Thoracotomy Amazia Hyperplasia Tumor Amastia Excision Thermal Tumors Poland Injury Syndrome Tuberous Gynecomastia Penetrating Injury Deformity Adapted from Sadove and van Aalst.
    [Show full text]
  • Benign Breast Diseases
    Benign Breast Diseases Dr S. FLORET, M.S Embryology Of Breast • In 5th or 6th week Two ventral bands of thickened epithelium (milk lines)develops • Extending from axilla to inguinal region,where paired breast develops • Polymastia or polythelia occurs along milk lines and ridges disappear • Ectodermal ingrowth into mesenchyme appears and formation of lactiferous ducts and sinus formed • Proliferation of mesenchyme makes the pit into a future nipple Developmental disorders • Amastia • Polands syndrome • Symmastia • Polythelia(renal agenesis,HT,Conduction defects,pyloric stenosis,Epilepsy,Ear Abnormality) • Supernumery Breast(turners and Fleishers syndrome) Functional Anatomy of Breast y It contains 15 to 20 lobes y Suspensory lig of breast inserts into dermis y Extending from 2nd to 6th ib ,sternum to ant axillary line y Upper outer quadrant has great volume of tissue y Nipple areolar complex,is pigmented with corrugations y Contains seb glands,sweat glands,montogomery tubercles and smooth muscle bundles, y Rich sensory innervations Blood Supply y Perforating branches of Internal Mammary Art y Lateral Branches of Posterior Intercostal Art y Branches from Axillary art,the Highest Thoracic,Lateral thoracic,Pectoral Branches of Thoraco Acromial vessels y Medial Mammary Art y 2‐4th Anterior Intercostal Perforators y Veins follow the arteries and Batson plexus around vertebra ext from base of skull to sacrum may provide bony mets Blood supply Innervation • Lateral Cutaneous Branches of 3rd to 6th Intercostal nerves • Intercostobrachial nerve • Ant branch of Supreaclavicular nerve Lymphatic supply • Anterior along lateral thoracic • Central group • Lateral along axillary vein • Posterior along subscapular • Apical • Rotters nodes • Internal mammary nodes Lymph Classification • Congenital • Injury • Inflammation • Infection • ANDI • Pregnancy Related Congenital • Inverted nipple • Super numery breast/nipple Non‐ Breast Disorder • Tietzes Disease • Sebaceous Cyst , Etc.
    [Show full text]
  • Benign-Breast-Disease-Nov-2019.Pdf
    Introduction General Approach to benign breast disease Application to: › Breast examination › Breast cysts › Fibroadenomas Mastalgia Nipple Discharge Self-detected breast / axillary lump Breast pain Nipple – discharge / itch / change HRT – is it safe? Family history – do I need to worry? Routine breast check GP-detected lump Imaging report – cyst / solid lesion / calcification Abnormalities during pregnancy / lactation Breast infections Gynaecomastia Breast trauma – haematoma / fat necrosis Developmental anomalies › Polythelia (accessory nipples) › Polymastia (accessory breasts) › Hypoplasia (small breasts) / Amastia / Athelia Mondor’s disease – phlebitis of the thoracoepigastric vein Breast Anatomy and Histology Gives us framework to understand / classify benign breast disease Proliferative vs non-proliferative vs AH – all to do with the epithelium lining the ducts / lobules Adeno – means diseased gland – again to do with the epithelium Fibro- (implies connective tissue) therefore to do with the stroma Some processes involve the major ducts (eg. papillomas) others the terminal duct-lobular units (eg. Cysts) Helps us understand the pathologist!! › PASH: pseudo-angiomatous stromal hyperplasia growth of cells in the connective tissue that resembles vascular growths › Myoepithelial cells Is the “lump” part of the normal glandular tissue being felt against the background fatty tissue? Is it more of a thickening than a 3-D lump? Is there similar lumpiness in the same position on the other side? (symmetry) Do other
    [Show full text]
  • Breast Concerns
    Section 12.0: Preventive Health Services for Women Clinical Protocol Manual 12.2 BREAST CONCERNS TITLE DESCRIPTION DEFINITION: Breast concerns in women of all ages are often the source of significant fear and anxiety. These concerns can take the form of palpable masses or changes in breast contours, skin or nipple changes, congenital malformation, nipple discharge, or breast pain (cyclical and non-cyclical). 1. Palpable breast masses may represent cysts, fibroadenomas or cancer. a. Cysts are fluid-filled masses that can be found in women of all ages, and frequently develop due to hormonal fluctuation. They often change in relation to the menstrual cycle. b. Fibroadenomas are benign sold tumors that are caused by abnormal growth of the fibrous and ductal tissue of the breast. More common in adolescence or early twenties but can occur at any age. A fibroadenoma may grow progressively, remain the same, or regress. c. Masses that are due to cancer are generally distinct solid masses. They may also be merely thickened areas of the breast or exaggerated lumpiness or nodularity. It is impossible to diagnose the etiology of a breast mass based on physical exam alone. Failure to diagnose breast cancer in a timely manner is the most common reason for malpractice litigation in the U.S. Skin or nipple changes may be visible signs of an underlying breast cancer. These are danger signs and require MD referral. 2. Non-spontaneous or physiological discharge is fluid that may be expressed from the breast and is not unusual in healthy women. 3. Galactorrhea is a spontaneous, multiple duct, milky discharge most commonly found in non-lactating women during childbearing years.
    [Show full text]
  • A Case Report of the Three-Years-Old Girl with Unilateral Amastia
    Case Report INTERNATIONAL JOURNAL OF WOMEN'S HEALTH AND REPRODUCTION SCIENCES http://www.ijwhr.net doi: 10.15296/ijwhr.2013.06 A Case Report of the Three-Years-Old Girl with Unilateral Amastia Zahra Ghanbari¹*, Rana Shokouhmand² Abstract Article History: Since breasts are the symbol of femininity, Received March 2013 Accepted April 2013 deformation or lack of the breasts greatly impairs Available online May 2013 the mental quality of life for the female patients. Psycho-sociological importance of this issue, has Keywords: caused many studies to work on breast implants Amastia, (1,2,3,4). Amastia is a rare condition where the Breast breast or nipple is absent. Amastia can be due to: Congenitally congenital, teratogen exposure, injuries sustained during thoracotomy, Chest tube placement, and Corresponding Author: Zahra Ghanbari, General inappropriate biopsy of the breast and radiotherapy Physician, Islamic Azad University of severe burns. Unilateral amastia is often Tabriz Branch, Iran associated with absence of the pectoral muscles. Tel: +989143057376 Bilateral amastia is associated in 40%of cases with Email: [email protected] multiple congenital anomalies involving other parts of the body as well .We had a rare case of a patient with unilateral amastia, where, in spite of the right- side of the breast being intact, the left-side of the breast was absent. The present article presents the case with reference to past reports of amastia. A three-years-old girl with unilateral of breast tissue,areolea and nipples . No other anomalies were noted. Investigation done during the hospital stay including ultrasonography of the chest wall, abdomen and pelvic were all normal.
    [Show full text]
  • Breast Lesions in Children and Adolescents
    Pictorial Essay | Pediatric Imaging https://doi.org/10.3348/kjr.2018.19.5.978 pISSN 1229-6929 · eISSN 2005-8330 Korean J Radiol 2018;19(5):978-991 Breast Lesions in Children and Adolescents: Diagnosis and Management Eun Ji Lee, MD, Yun-Woo Chang, MD, PhD, Jung Hee Oh, MD, Jiyoung Hwang, MD, Seong Sook Hong, MD, PhD, Hyun-joo Kim, MD, PhD All authors: Department of Radiology, Soonchunhyang University Seoul Hospital, Seoul 04401, Korea Pediatric breast disease is uncommon, and primary breast carcinoma in children is extremely rare. Therefore, the approach used to address breast lesions in pediatric patients differs from that in adults in many ways. Knowledge of the normal imaging features at various stages of development and the characteristics of breast disease in the pediatric population can help the radiologist to make confident diagnoses and manage patients appropriately. Most breast diseases in children are benign or associated with breast development, suggesting a need for conservative treatment. Interventional procedures might affect the developing breast and are only indicated in a limited number of cases. Histologic examination should be performed in pediatric patients, taking into account the size of the lesion and clinical history together with the imaging findings. A core needle biopsy is useful for accurate diagnosis and avoidance of irreparable damage in pediatric patients. Biopsy should be considered in the event of abnormal imaging findings, such as non-circumscribed margins, complex solid and cystic components, posterior acoustic shadowing, size above 3 cm, or an increase in mass size. A clinical history that includes a risk factor for malignancy, such as prior chest irradiation, known concurrent cancer not involving the breast, or family history of breast cancer, should prompt consideration of biopsy even if the lesion has a probably benign appearance on ultrasonography.
    [Show full text]
  • Aesthetic Breast Surgery GM Ref: GM006-GM010 Version: 4.3 (16 Sept 2020)
    Greater Manchester EUR Policy Statement on: Aesthetic Breast Surgery GM Ref: GM006-GM010 Version: 4.3 (16 Sept 2020) Commissioning Statement Aesthetic Breast Surgery Policy Reconstructive surgery following cancer, trauma or another significant clinical event is Exclusions not covered by this policy and is routinely commissioned across Greater Manchester. (Alternative commissioning Treatment/procedures undertaken as part of an externally funded trial or as a part of arrangements apply) locally agreed contracts / or pathways of care are excluded from this policy, i.e. locally agreed pathways take precedent over this policy (the EUR Team should be informed of any local pathway for this exclusion to take effect). Our definition All surgery involving incision into healthy tissue, in this case a healthy breast whatever of Aesthetic its size and shape, is considered to be aesthetic. This includes cases where there are symptoms, external to the breast that are attributed to, or exacerbated by, the size of the breast(s). Policy Breast Augmentation Inclusion All surgery involving incision into healthy tissue in this case a healthy breast whatever Criteria its size and shape is considered to be aesthetic. Surgery to augment the size and or shape of a breast(s) is not routinely commissioned, with the exception of proven amastia or amazia. There should be confirmation either in the form of a consultant letter or an ultrasound report that there is an absence of breast tissue. This policy applies equally to all women including those who have completed gender realignment. The period of oestrogen therapy on the realignment pathway is considered, for the purposes of this policy, to equate to the period of hormonal increase experienced in puberty.
    [Show full text]
  • Bilateral Congenital Amazia: a Case Report and Systematic Review of the Literature
    Journal of Plastic, Reconstructive & Aesthetic Surgery (2014) 67,27e33 REVIEW Bilateral congenital amazia: A case report and systematic review of the literature Stephanie E. Dreifuss, Zoe M. MacIsaac, Lorelei J. Grunwaldt* Department of Plastic Surgery, University of Pittsburgh, 3550 Terrace Street, 6B Scaife Hall, Pittsburgh, PA 15261, USA Received 17 April 2013; accepted 29 June 2013 KEYWORDS Summary Background: Congenital breast anomalies present challenging management deci- Congenital; sions to the plastic surgeon. One must consider the optimal age of reconstruction as well as the Breast; ideal surgical technique. Amazia, a very rare condition characterised by a complete lack of breast Amazia; tissue in the presence of a nipple areolar complex (NAC), is one such congenital breast anomaly. Reconstruction Methods: A comprehensive systematic review of the literature was performed to examine the various approaches to reconstruction of congenital breast anomalies. From this review, the data compiled included patient demographics and operative details, including type of reconstruction, treatment of the contralateral breast and treatment of the NAC. A case of bilateral amazia is also reported. Results: Of 178 articles, 13 ultimately met the inclusion criteria and 54 individual patient recon- structions were identified from these papers. At the time of reconstruction, the patients were in the range of 13e54 years, with an average age of 27.6 years. Prosthetic and autologous recon- structions were equally represented (19 patients each, 35.2%; Table 2). Autologous reconstruc- tion with prosthesis was slightly less common (15 patients, 27.8%). One patient was reconstructed using autologous lipo-augmentation only. Of the 36 cases in which the approach to the NAC was addressed, most (66.7%) were not recon- structed.
    [Show full text]
  • Feeding Fundamentals
    FEEDING FUNDAMENTALS Hand Book on Infant & Young Child Nutrition by IYCF Subspecialty Chapter of Indian Academy of Pediatrics Editors Dr. Ketan Bharadva Dr. Satish Tiwari Dr. Pushpa Chaturvedi Dr. Akash Bang Dr. R K Agarwal “Feeding Fundamentals” A Hand Book on Infant & Young Child Nutrition First Edition, 2011 Published by: PEDICON 2011, Jaipur. The National Conference of Indian Academy of Pediatrics for Infant & Young Child Feeding Subspecialty Chapter of Indian Academy of Pediatrics For Private Circulation only Disclaimer: The views expressed in various articles/chapters are of individual writers. Publishers or editors may not necessarily agree with the same. Important Information: All possible care has been taken to ensure accuracy of the material, but the editors, printers or publishers shall not be responsible for any inadvertent error(s) and consequences arising out of it. All Rights Reserved: But any part of this publication can be reproduced, stored, or transmitted in any form, by any means or otherwise for the benefit of the children, with due acknowledgement of the editors & publisher. Printed by: Aristo Pharmaceuticals Address for correspondence: Dr. Satish TiwariYashoda Nagar No. 2, Amravati-444606. Maharashtra, INDIA E-mail: [email protected], [email protected] Phone no.: 0721-2541252, 9422857204 Office Bearers of IYCF Chapter Dr. R K Agarwal : President Dr. C R Banapurmath : Vice President Dr. Shripad Jahagirdar : Secretary Dr. Sanjio Borade : Treasurer Dr. Satinder Aneja : Executive member (North Zone) Dr. Narayanappa : Executive member (South Zone) Dr. M L Agnihotri : Executive member (Central Zone) Dr. Pradeep Kar : Executive member (East Zone) Dr. Ketan Bharadva : Executive member (West Zone) ACKNOWLEDGEMENTS Dr.
    [Show full text]
  • Breast Asymmetry
    Breast Asymmetry This leaflet has been designed to give guidance and help to understand more about breast asymmetry and give you some understanding of possible treatments that may be recommended. Please be aware that NHS funding will need to be sought if you do not have a cancer diagnosis in the form of an Individual Funding Request (IFR). Non- oncological breast surgery is not routinely funded. What is asymmetry? Breast asymmetry can mean a difference in the size of the breast, the shape and/or also the position of the nipple. There may be underdevelopment or overdevelopment of one breast or elements of a lack of development of breast altogether. In cases where there is lack of development of the breasts, malformation or asymmetry, women hide or camouflage this by wearing padded bras, bra inserts and loose fitting clothing. Teenagers with significant asymmetry are usually very self-conscious and often do not seek help until later in life. It is entirely normal for there to be a degree of difference between the sizes of each breast. In cases where this difference is very large, more pronounced or noticeable it may be possible to correct it surgically. Such surgery may involve breast reduction surgery or insertion of a tissue expander/implant at the clinical advice of the breast surgeon but only if suitable funding is available. Should I consider surgery? There is no medical advantage to having surgery i.e. breast implants/breast reduction, however; it can have a positive psychological effect and those women who appear to be struggling with body image will be offered treatment with our psychological therapy team.
    [Show full text]
  • Breast Concerns and Disorders in Adolescent Females
    Review Article Page 1 of 8 Breast concerns and disorders in adolescent females Donald E. Greydanus1, Lyubov Matytsina-Quinlan2 1Department of Pediatric & Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, Kalamazoo, MI, USA; 2East Cheshire Centre for Sexual Health, East Cheshire NHS Trust, Macclesfield District General Hospital, Macclesfield, Cheshire, SK103BL, UK Contributions: (I) Conception and design: All authors; (II) Administrative support: All authors; (III) Provision of study materials or patients: None; (IV) Collection and assembly of data: All authors; (V) Data analysis and interpretation: All authors; (VI) Manuscript writing: All authors; (VII) Final Approval of manuscript: All authors. Correspondence to: Donald E. Greydanus. Department of Pediatric & Adolescent Medicine, Western Michigan University Homer Stryker M.D. School of Medicine, 1000 Oakland Drive, Kalamazoo, MI 49008-1284, USA. Email: [email protected]. Abstract: Breast disorders are an important aspect of health care for adolescent females and this discussion presents principles for education and management of breast concerns as well as problems for this population of patients. Normal and abnormal breast development are considered. Breast pathology that is reviewed include congenital lesions as well as breast asymmetry, atrophy, tuberous breasts, fibroadenoma, cystosarcoma phyllodes, benign breast disease, mastalgia and other breast disorders. Keywords: Athelia; polymastia; fibroadenoma; mastitis; mammary hyperplasia; fibrocystic change Received: 11 June 2019; Accepted: 17 June 2019; published: 03 July 2019. doi: 10.21037/pm.2019.06.07 View this article at: http://dx.doi.org/10.21037/pm.2019.06.07 Introduction a mother or other close relative has a breast cancer history. In the primary care medical practice, the adolescent female Breast disorders are an important aspect of health care may present with a number of concerns related to the size, for female adolescents (1-7).
    [Show full text]