OEIS Complex Associated with Chromosome 1P36 Deletion: a Case Report and Review Ayman W
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Bladder & Cloacal Exstrophy
Bladder & Cloacal Exstrophy: A 30 Year Journey of Innovation Rosemary H. Grant, RN BSN Boston Childrens Hospital Department of Urology/ Surgical Programs 27th Annual APSNA Scientific Conference Palm Desert , California Bladder & Cloacal Exstrophy There are no disclosures Bladder & Cloacal Extrophy Objectives Identify 3 systems involved in the Exstrophy Complex Diagnosis Define the procedure for management of the exstrophied bladder State 2 components of psychosocial support for the Exstrophy Population 1 Exstrophy Complex Exstrophy – Epispadias (EEC): Classic Bladder Exstrophy Epispadias Cloacal Exstrophy (OEIS): Omphalocele Exstrophy Imperforate anus Spinal anomaly Exstrophy/Epispadias Complex (EEC) Incidence- 1:10,000- 1:50,000 live births 5:1 ratio of male- female births Embryology Typically occurs between 9 and 12 weeks gestation Cloacal membrane ruptures prematurely AFTER separation of the GI and GU tracts Presentation: Eversion of the bladder through an abdominal wall defect Exposure of the inner bladder mucosa Exposure of the dorsal urethra Lack of musculature in the anterior abdominal wall over the bladder Bladder is exposed and drains onto the abdomen Bladder Exstrophy Prenatal Diagnosis (Fetal US) Courtesy of Carol Barnewolt, MD 2 Bladder Exstrophy (Boy) Boy: Frontal view Umbilicus Bladder Low-lying umbilicus Urethral Exposed (inside-out) bladder Plate Urethra open on dorsum (top) Glans of the penis Penis Scrotum Bladder Exstrophy (Girl) Girl: Frontal view Umbilicus Bladder open on Bladder abdominal wall Urethral Urethra open -
Genetic Syndromes and Genes Involved
ndrom Sy es tic & e G n e e n G e f Connell et al., J Genet Syndr Gene Ther 2013, 4:2 T o Journal of Genetic Syndromes h l e a r n a DOI: 10.4172/2157-7412.1000127 r p u y o J & Gene Therapy ISSN: 2157-7412 Review Article Open Access Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy Connell MT1, Owen CM2 and Segars JH3* 1Department of Obstetrics and Gynecology, Truman Medical Center, Kansas City, Missouri 2Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 3Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA Abstract Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. -
Pathophysiology, Diagnosis, and Management of Pediatric Ascites
INVITED REVIEW Pathophysiology, Diagnosis, and Management of Pediatric Ascites ÃMatthew J. Giefer, ÃKaren F. Murray, and yRichard B. Colletti ABSTRACT pressure of mesenteric capillaries is normally about 20 mmHg. The pediatric population has a number of unique considerations related to Intestinal lymph drains from regional lymphatics and ultimately the diagnosis and treatment of ascites. This review summarizes the physio- combines with hepatic lymph in the thoracic duct. Unlike the logic mechanisms for cirrhotic and noncirrhotic ascites and provides a sinusoidal endothelium, the mesenteric capillary membrane is comprehensive list of reported etiologies stratified by the patient’s age. relatively impermeable to albumin; the concentration of protein Characteristic findings on physical examination, diagnostic imaging, and in mesenteric lymph is only about one-fifth that of plasma, so there abdominal paracentesis are also reviewed, with particular attention to those is a significant osmotic gradient that promotes the return of inter- aspects that are unique to children. Medical and surgical treatments of stitial fluid into the capillary. In the normal adult, the flow of lymph ascites are discussed. Both prompt diagnosis and appropriate management of in the thoracic duct is about 800 to 1000 mL/day (3,4). ascites are required to avoid associated morbidity and mortality. Ascites from portal hypertension occurs when hydrostatic Key Words: diagnosis, etiology, management, pathophysiology, pediatric and osmotic pressures within hepatic and mesenteric capillaries ascites produce a net transfer of fluid from blood vessels to lymphatic vessels at a rate that exceeds the drainage capacity of the lym- (JPGN 2011;52: 503–513) phatics. It is not known whether ascitic fluid is formed predomi- nantly in the liver or in the mesentery. -
Tubular Colonic Duplication in an Adult Patient with Long-Standing History of Constipation and Tenesmus
Clinical Case Report Tubular colonic duplication in an adult patient with long-standing history of constipation and tenesmus Hisham F. Bahmad1 , Luis E. Rosario Alvarado2 , Kiranmayi P. Muddasani2 , Ana Maria Medina1,3 How to cite: Bahmad HF, Rosario Alvarado LE, Muddasani KP, Medina AM. Tubular colonic duplication in an adult patient with long-standing history of constipation and tenesmus. Autops Case Rep [Internet]. 2021;11:e2021260. https://doi.org/10.4322/acr.2021.260 ABSTRACT Background: Intestinal duplications are rare congenital developmental anomalies with an incidence of 0.005-0.025% of births. They are usually identified before 2 years of age and commonly affect the foregut or mid-/hindgut. However, it is very uncommon for these anomalies, to arise in the colon or present during adulthood. Case presentation: Herein, we present a case of a 28-year-old woman with a long-standing history of constipation, tenesmus, and rectal prolapse. Colonoscopy results were normal. An abdominal computed tomography (CT) revealed a diffusely mildly dilated redundant colon, which was prominently stool-filled. The gastrografin enema showed ahaustral mucosal appearance of the sigmoid and descending colon with findings suggestive of tricompartmental pelvic floor prolapse, moderate-size anterior rectocele, and grade 2 sigmoidocele. A laparoscopic exploration was performed, revealing a tubular duplicated colon at the sigmoid level. A sigmoid resection rectopexy was performed. Pathologic examination supported the diagnosis. At 1-month follow-up, the patient was doing well without constipation or rectal prolapse. Conclusions: Tubular colonic duplications are very rare in adults but should be considered in the differential diagnosis of chronic constipation refractory to medical therapy. -
Pseudodiphallia with Duplication of Urethra Rev Arg De Anat Clin; 2012, 4 (1): 14-19 ______
Pseudodiphallia with duplication of urethra Rev Arg de Anat Clin; 2012, 4 (1): 14-19 __________________________________________________________________________________________ Case report PSEUDODIPHALLIA WITH DUPLICATION OF URETHRA Prakash Billakanti Babu, Ramachandra Bhat K Kasturba Medical College, Manipal University, Manipal, Karnataka, India RESUMEN individual was approximately 50-60 years. There was the presence of true penis of normal size and miniature Se presenta un caso raro de “Pseudofalia” en un penis attached to the ventral aspect of main structure adulto de 50-60 años de edad, cuyo cuerpo fue close to glans. The glans of the true penis was not donado al departamento de la anatomía del Hospital covered by the prepuce. The accessory penis had full Universitario Kasturba, Manipal. El sujeto presentaba covering of skin and at the tip a depression. Close un pene verdadero, de tamaño normal y otro en observation of this showed two openings indicating miniatura junto a la zona ventral de estructura principal openings of the urethra. There was no enlargement to cercana al glande. El glande del pene verdadero no indicate the presence of glans in this appendage. The estaba cubierto por el prepucio. El pene accesorio scrotum had normal appearance with the testes in estaba plenamente recubierto por piel y en la punta place. Arteries and nerves observed on the accessory una depresión. La observación cercana mostró dos penis were derived from the main penis. However aberturas que indicaban conexión con la uretra. No veins showed some variations. The superficial dorsal había más prolongaciones indicando la presencia de vein on the right side was originating from the glande en este apéndice. -
MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature
J M Wit and others Genetics of short stature 174:4 R145–R173 Review MECHANISMS IN ENDOCRINOLOGY Novel genetic causes of short stature 1 1 2 2 Jan M Wit , Wilma Oostdijk , Monique Losekoot , Hermine A van Duyvenvoorde , Correspondence Claudia A L Ruivenkamp2 and Sarina G Kant2 should be addressed to J M Wit Departments of 1Paediatrics and 2Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, Email The Netherlands [email protected] Abstract The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. -
Caudal Duplication Syndrome: Case Series and Review of Literature
Original Research Paper Volume-7 | Issue-9 | September-2017 | ISSN - 2249-555X | IF : 4.894 | IC Value : 79.96 Surgery CAUDAL DUPLICATION SYNDROME: CASE SERIES AND REVIEW OF LITERATURE. Assistant Professor, Department of Pediatric Surgery, B J Wadia Hospital for Children Dr Flavia D'souza Mumbai- 400086 Dr A Suyodhan Associate Professor, Department of Pediatric Surgery, B J Wadia Hospital for Children Reddy Navi Mumbai 400706 - Corresponding Author Dr Pradnya Professor, Department of Pediatric Surgery, B J Wadia Hospital for Children Navi Bendre Mumbai 400706 ABSTRACT Caudal duplication syndrome is a rare entity in which structures derived from the embryonic cloaca and notochord are duplicated to various extents. There have been isolated reports of duplication of the colorectum, lower urogenital tract, spinal dysraphism and abdominal wall defects resulting from insults at different stages of embryogenesis. We herein describe 3 cases of diphallia, one case of anal duplication, one case of hindgut duplication and one extremely rare anomaly of labial duplication showing corporal tissue which has never been previously reported. The management of these rare anomalies is individualized and literature reviewed. By combining these rare cases together with similar embryological background we discuss the pathological anatomy, management, results of our experience. KEYWORDS : .Diphallia, Anal duplication, Vulval duplication, Hindgut duplication. Introduction Material and Methods Caudal duplication results from sagittal symmetric pairing of axial A total of 6 children with a varying degrees of caudal duplication were structures of the caudal embryo. In its complete form, it comprises of treated at our institute, from 2010 to 2012. Individualized duplicated colorectum, and anal canal with double anal orifices; two investigations for every case were done. -
OEIS Complex, a Case Report
Case Report iMedPub Journals Journal of Intensive and Critical Care 2016 http://www.imedpub.com ISSN 2471-8505 Vol. 2 No. 1:4 DOI: 10.21767/2471-8505.100013 OEIS Complex, A Case Report Manassero-Morales G, Franco-Bustamante K, Matos-Rojas I Abstract National Institute of Child Health, San Borja, Introduction: The OEIS complex includes: Omphalocele, Exstrophy of the cloaca, Lima, Perú Imperforate anus, and Spinal defects. The OEIS complex affects 1 in 200,000 to 400,000 pregnancies and its etiology is uncertain. The purpose is to present our experience in this unusual coexistence of malformations never reported in Latin Corresponding author: America. Manassero-Morales G Clinical Case: A male infant, three months of age, diagnosed at birth with omphalocele, cloacal exstrophy, double hemi bladder, rectum and anal atresia, [email protected] bilateral clubfeet and lumbosacral bifid spine. Abdominal MRI confirmed clinical findings and also showed horseshoe kidney, bilateral enlarged renal pelvis. Instituto Nacional de Salud del Niño-San Borja, Lumbosacral spine MRI revealed lipomeningocele, hypoplastic sacrum and pubic Lima, Perú agenesia. In the first two days of life, this patient underwent several surgical procedures. Currently (3 months old) is waiting for further surgical reconstruction. Conclusion: The case described meets the clinical criteria for OIES complex; in the Citation: Manassero-Morales G, Franco- absence of a family history that could suggest a pattern of Mendelian inheritance Bustamante K, Matos-Rojas I .OEIS Complex, and normal cytogenetic study. We conclude that this is an isolated case of probable A Case Report. J Intensive & Crit Care 2016, multifactorial inheritance. -
Prenatal Ultrasonography of Craniofacial Abnormalities
Prenatal ultrasonography of craniofacial abnormalities Annisa Shui Lam Mak, Kwok Yin Leung Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong SAR, China REVIEW ARTICLE https://doi.org/10.14366/usg.18031 pISSN: 2288-5919 • eISSN: 2288-5943 Ultrasonography 2019;38:13-24 Craniofacial abnormalities are common. It is important to examine the fetal face and skull during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to the fetal Received: May 29, 2018 skull and face can increase the detection rate. When an abnormality is found, it is important Revised: June 30, 2018 to perform a detailed scan to determine its severity and search for additional abnormalities. Accepted: July 3, 2018 Correspondence to: The use of 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate and Kwok Yin Leung, MBBS, MD, FRCOG, craniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate, Cert HKCOG (MFM), Department of micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostic Obstetrics and Gynaecology, Queen Elizabeth Hospital, Gascoigne Road, techniques are indicated to exclude chromosomal abnormalities. Molecular analysis for some Kowloon, Hong Kong SAR, China syndromes is feasible if the family history is suggestive. Tel. +852-3506 6398 Fax. +852-2384 5834 E-mail: [email protected] Keywords: Craniofacial; Prenatal; Ultrasound; Three-dimensional ultrasonography; Fetal structural abnormalities This is an Open Access article distributed under the Introduction terms of the Creative Commons Attribution Non- Commercial License (http://creativecommons.org/ licenses/by-nc/3.0/) which permits unrestricted non- Craniofacial abnormalities are common. -
Imperforate Anus and Cloacal Malformations Marc A
C H A P T E R 3 5 Imperforate Anus and Cloacal Malformations Marc A. Levitt • Alberto Peña ‘Imperforate anus’ has been a well-known condition since component but were left with a persistent urogenital antiquity.1–3 For many centuries, physicians, as well as sinus.21,23 Additionally, most rectovestibular fistulas were individuals who practiced medicine, have tried to help erroneously called ‘rectovaginal fistula’.21 A rectoblad- these children by creating an orifice in the perineum. derneck fistula in males is the only true supralevator Many patients survived, most likely because they suffered malformation and occurs in about 10%.18 As it is the only from a type of defect that is now recognized as ‘low.’ malformation in males in which the rectum is unreach- Those with a ‘high’ defect did not survive. In 1835, able through a posterior sagittal incision, it requires an Amussat was the first to suture the rectal wall to the skin abdominal approach (via laparoscopy or a laparotomy) in edges which was the first actual anoplasty.2 Stephens addition to the perineal approach. made a significant contribution by performing the first Anorectal malformations represent a wide spectrum of anatomic studies in human specimens. In 1953, he pro- defects. The terms ‘low,’ ‘intermediate,’ and ‘high’ are arbi- posed an initial sacral approach followed by an abdomi- trary and not useful in current therapeutic or prognostic noperineal operation, if needed.4 The purpose of the terminology. A therapeutic and prognostically oriented sacral stage of this procedure was to preserve the pub- classification is depicted in Box 35-1.24 orectalis sling, considered a key factor in maintaining fecal incontinence. -
Caudal Duplication Syndrome: Imaging Evaluation of a Rare Entity in an Adult Patient
Radiology Case Reports 11 (2016) 11e15 Available online at www.sciencedirect.com ScienceDirect journal homepage: http://Elsevier.com/locate/radcr Case Report Caudal duplication syndrome: imaging evaluation of a rare entity in an adult patient * Tianshen Hu BS, Travis Browning MD, Kristen Bishop MD Department of Radiology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390-8896, USA article info abstract Article history: Several theories have been put forth to explain the complex yet symmetrical malforma- Received 20 August 2015 tions and the myriad of clinical presentations of caudal duplication syndrome. Hereby, Accepted 5 December 2015 reported case is a 28-year-old female, gravida 2 para 2, with congenital caudal malfor- Available online 19 January 2016 mation who has undergone partial reconstructive surgeries in infancy to connect her 2 colons. She presented with recurrent left lower abdominal pain associated with nausea, vomiting, and subsequent feculent anal discharge. Imaging reveals duplication of the urinary bladder, urethra, and colon with with cloacal malformations and fistulae from the left-sided cloaca, uterus didelphys with separate cervices and vaginal canals, right-sided aortic arch and descending thoracic aorta, and dysraphic midline sacrococcygeal defect. Hydronephrosis of the left kidney with left hydroureter and inflammation of one of the colons were suspected to be the cause of the patient’s acute complaints. She improved symptomatically over the course of her hospitalization stay with conservative treatments. The management for this syndrome is individualized and may include surgical interven- tion to fuse or excise the duplicated organs. Copyright © 2016, the Authors. Published by Elsevier Inc. -
Cell Lines Or Lymphocytes Collected from Blood Via Trizol HDAC4 in Each of These Cases Revealed De Novo Mutations
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector ARTICLE Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems Stephen R. Williams,1 Micheala A. Aldred,3 Vazken M. Der Kaloustian,4,6 Fahed Halal,5 Gordon Gowans,7 D. Ross McLeod,8 Sara Zondag,9 Helga V. Toriello,9 R. Ellen Magenis,10 and Sarah H. Elsea1,2,* Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance, craniofacial and skeletal abnormalities (including brachydactyly type E), and autism spectrum disorder. To date, only large deletions of 2q37 have been reported, making delineation of a critical region and subsequent identification of candidate genes difficult. We present clinical and molecular analysis of six individuals with overlapping deletions involving 2q37.3 that refine the critical region, reducing the candi- date genes from >20 to a single gene, histone deacetylase 4 (HDAC4). Driven by the distinct hand and foot anomalies and similar cognitive features, we identified other cases with clinical findings consistent with BDMR but without a 2q37 deletion, and sequencing of HDAC4 identified de novo mutations, including one intragenic deletion probably disrupting normal splicing and one intragenic insertion that results in a frameshift and premature stop codon. HDAC4 is a histone deacetylase that regulates genes important in bone, muscle, À/À neurological, and cardiac development. Reportedly, Hdac4 mice have severe bone malformations resulting from premature ossifica- tion of developing bones.