3,572 results match your criteria Imperforate Hymen


Scintigraphic evaluation of colonic transit in children with constipation using Ga-citrate.

World J Nucl Med 2018 Oct-Dec;17(4):249-252

Hospital de Base do Distrito Federal - Nuclear Medicine Service, Brasília, Brasil.

The aim of this study was to assess the colonic transit in children and teenagers with chronic constipation. Twenty patients from 1.5 to 16 years old were included (mean age = 6. Read More

View Article
December 2018

Acute urinary retention in two adolescent girls with imperforate hymen.

Authors:
Kenji Goto

J Obstet Gynaecol Res 2018 Dec 3. Epub 2018 Dec 3.

Department of Obstetrics and Gynecology, University of Fukui, Fukui, Japan.

Acute urinary retention is rare symptom in young adolescent girls. Imperforate hymen can be a cause of acute urinary retention possibly due to the pressure effect of the distended vagina (hematocolpos) on the lower urinary tract. However, the mechanism of progression to urinary retention is unknown. Read More

View Article
December 2018
8 Reads

Isolated Fetal Cardiac Abnormalities: Are They Really Isolated?

AJP Rep 2018 Oct 30;8(4):e355-e358. Epub 2018 Nov 30.

Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Weill Cornell Medicine, New York, New York.

 To determine the rate of unsuspected noncardiac abnormalities in newborns suspected to have isolated cardiac abnormalities in the second trimester.  A review of the ultrasound database from the Weill Cornell Medical Center identified fetuses with a suspected cardiac abnormality from January 2006 to November 2016. Cases with prenatally suspected noncardiac structural abnormalities, abnormal fetal or neonatal karyotype or microarray, and those who delivered at an outside institution or underwent abortion were excluded. Read More

View Article
October 2018

Case of Imperforate Urethra.

Authors:

Med Phys J 1810 Feb;23(132):122-123

View Article
February 1810

Remarks on Mr. Martin's Case of Imperforate Anus.

Authors:
O W Bartley

Med Phys J 1808 May;19(111):432-434

Nailsworth, Glocestershire.

View Article

Mr. Martin's Case of Imperforate Anus.

Authors:
P J Martin

Med Phys J 1807 Oct;18(104):297-298

Pulborough.

View Article
October 1807

Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report.

Authors:
Femia Hayek

J Med Case Rep 2018 Nov 29;12(1):354. Epub 2018 Nov 29.

Department of Pediatrics, Rafic Hariri University Hospital, Bir-Hassan, Jinah, Beirut, Lebanon.

Background: Pallister-Hall syndrome is a rare, autosomal dominant, genetic disorder characterized by different congenital abnormalities: hypothalamic hamartoblastoma, bifid or shortened epiglottis, polydactyly, renal anomalies, and imperforate anus.

Case Presentation: In this case report, we describe the case of a 13-year-old Lebanese-Armenian boy born with Pallister-Hall syndrome showing newly associated manifestations (orofacial narrowing and tethered cord), and currently showing a spontaneous puberty with normal growth pattern following management with growth hormones.

Conclusions: This case report shows a practical approach to this very rare syndrome, mainly with testosterone and growth hormones, and its follow-up in the long term. Read More

View Article
November 2018
1 Read

Ebstein's anomaly with imperforate tricuspid valve: An extremely rare congenital anomaly.

J Cardiovasc Comput Tomogr 2018 Nov 10. Epub 2018 Nov 10.

Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.

View Article
November 2018
4 Reads

Tethered cord in children with anorectal malformations with emphasis on rectobladder neck fistula.

Pediatr Surg Int 2018 Nov 9. Epub 2018 Nov 9.

International Center for Colorectal Care, Children's Hospital Colorado, Aurora, CO, USA.

Purpose: To find the incidence of tethered cord (TC) in patients with anorectal malformations (ARM) and to determine the relationship between bowel/urinary control and TC in a subset of patients with rectobladder neck fistula (RBNF).

Methods: The database of a tertiary medical center was retrospectively collected for all patients treated for ARM from 1980 to 2012. All patients with TC and RBNF were identified. Read More

View Article
November 2018
2 Reads

Pelvic pain in young girls: not only dysmenorrhoea!

BMJ Case Rep 2018 Nov 8;2018. Epub 2018 Nov 8.

Gynecology and Obstetrics Department, Hospital de Braga, Braga, Portugal.

Imperforate hymen is the most frequent cause of haematocolpos, although it is a rare malformation (1:2000). We present two cases of young girls with cyclic abdominal pain and urinary symptoms. At gynaecological examination, they all presented imperforate hymen and ultrasound revealed significant vaginal distension. Read More

View Article
November 2018
10 Reads

Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report.

Medicine (Baltimore) 2018 Nov;97(45):e12822

Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, P. R. of China.

Rationale: Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect (VACTERL) association and Müllerian duct anomalies are rare conditions. We present a rare condition with the co-occurrence of the VACTERL association and Müllerian duct hypoplasia to characterize patients' clinical presentations, outcomes, and treatment.

Patient Concerns: An 11-year-old girl presented to our hospital with severe lower abdominal pain, lower vaginal atresia with enlargement of the upper vagina and a bicornuate uterus with a Y-shaped uterine cavity filled with hematometra on pelvic magnetic resonance imaging. Read More

View Article
November 2018
7 Reads

Interventional treatment of benign nasopharyngeal stenosis and imperforate nasopharynx in dogs and cats: 46 cases (2005-2013).

J Am Vet Med Assoc 2018 Nov;253(10):1300-1308

OBJECTIVE To determine outcome for dogs and cats with benign nasopharyngeal stenosis or an imperforate nasopharynx that underwent balloon dilatation or metallic stent placement. DESIGN Retrospective case series. ANIMALS 15 dogs and 31 cats. Read More

View Article
November 2018
14 Reads

Altered expression of KCNG3 and KCNG4 in Hirschsprung's disease.

Pediatr Surg Int 2018 Nov 1. Epub 2018 Nov 1.

National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin 12, Ireland.

Purpose: Voltage-gated potassium ion channels have long been implicated in gastrointestinal motility. Recent studies have highlighted the role of voltage-gated channel subfamily G member 3 (KCNG3) and 4 (KCNG4) genes in the electrical functioning of interstitial cells of Cajal and PDGFRα cells of the mouse colon. We designed this study to investigate KCNG3 and KCNG4 expression in the normal human colon and in Hirschsprung's disease (HSCR). Read More

View Article
November 2018
1 Read

Abnormal Scn1b and Fxyd1 gene expression in the pulled-through ganglionic colon may influence functional outcome in patients with Hirschsprung's disease.

Pediatr Surg Int 2018 Nov 1. Epub 2018 Nov 1.

National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin 12, Ireland.

Purpose: Smooth muscle cells are electrically coupled to ICC and PDGFRα cells, to regulate smooth muscle contraction. Recent studies have reported that the voltage-gated sodium channel type 1β (Scn1b), and the chloride channel subunit, Fxyd1, are highly expressed by both ICC and PDGFRα cells in the mouse colon. We designed this study to investigate the expression of the Scn1b and Fxyd1 genes in the normal human colon and in HSCR. Read More

View Article
November 2018
1 Read

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes.

Am J Med Genet A 2018 Oct 31. Epub 2018 Oct 31.

Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) describes a group of developmental disorders affecting the lungs with its pulmonary vasculature. Mutations in the FOXF1 gene have been reported in most cases, and extrapulmonary findings were described. We present two patients with ACDMPV and FOXF1 mutations that illustrate the variability in presentation and outcome of their disease. Read More

View Article
October 2018
4 Reads

Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum.

AJP Rep 2018 Oct 29;8(4):e264-e276. Epub 2018 Oct 29.

Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, Indiana.

 To ascertain if useful criteria for prenatal diagnosis of fetal ventral body wall defects (VBWDs) exists by reviewing published literature on diagnosis of VBWD as compared with our own diagnostic experience.  A comprehensive literature review of diagnostic criteria of fetal VBWD including pentalogy of Cantrell (POC), omphalocele, exstrophy, imperforate anus, spina bifida (OEIS), cloacal exstrophy, limb-body wall complex (LBWC), and body stalk anomaly was performed followed by a retrospective review of all fetal magnetic resonance imaging (MRI) examinations from our medical center over a 2-year period.  Classically, OEIS is omphalocele, bladder exstrophy, imperforate anus, and spina bifida. Read More

View Article
October 2018
2 Reads

Obstetrical outcomes in adult patients born with complex anorectal malformations and cloacal anomalies: a literature review.

J Pediatr Adolesc Gynecol 2018 Oct 24. Epub 2018 Oct 24.

Nationwide Children's Hospital, Columbus, Ohio.

Background: Patients born with complex anorectal malformations often have associated Mullerian anomalies, which may impact both fertility and obstetrical outcomes. Other VACTERL associations, such as renal or cardiac anomalies, could also impact pregnancy intention, fertility rates, and recommendations about mode of delivery or obstetrical outcomes. Associated conditions present at birth, like hydrocolpos, could also potentially impact fertility. Read More

View Article
October 2018
8 Reads

Successful pregnancy in a patient with Ebstein's anomaly; a case report from a developing country.

J Pak Med Assoc 2018 Sep;68(9):1391-1393

Liaquat National Hospital and Medical College, Karachi.

Ebstein anomaly is a rare malformation of the tricuspid valve of the heart. The malformed tricuspid valve may be incompetent, stenotic, or rarely, imperforate. Pregnant patients with Ebstein anomaly become a challenge for the physician in terms of management. Read More

View Article
September 2018
1 Read
0.400 Impact Factor

Exploration of the fetus with gross anomaly: a case of pseudo prune belly syndrome.

Anat Cell Biol 2018 Sep 28;51(3):205-208. Epub 2018 Sep 28.

Department of Anatomy, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

Prune belly syndrome is a rare congenital anomaly usually presented with triad characteristic feature of deficient abdominal muscles, cryptorchidism, and urinary tract anomalies. Here, we present a case with all the characteristic features of prune belly and the associated secondary features which were observed on detailed dissection and exploration of the fetus. Read More

View Article
September 2018
1 Read

Prenatal Evaluation for Detection of Anorectal Atresia: Value of Ultrasound.

J Ultrasound Med 2018 Oct 2. Epub 2018 Oct 2.

Departments of Ultrasound, First Affiliated Hospital of Xiamen University, Xiamen, China.

Objectives: To investigate the applicability and value of ultrasound (US) in the diagnosis of anorectal atresia.

Methods: Between January 2008 and January 2016, we prospectively evaluated 63,101 fetuses (gestational age, 20-38 weeks), including low- and high-risk populations using 2-dimensional US scans. An abnormal imaging finding was defined as an anal canal diameter of less than the 95% confidence interval (small anal canal) of the normal range or the absence of an anal canal and rectum. Read More

View Article
October 2018

Trisomy 22 with long spina bifida occulta: A case report.

Medicine (Baltimore) 2018 Sep;97(39):e12306

Department of Ultrasound.

Introduction: Complete non-mosaic trisomy 22 is a fatal chromosomal disorder that only few fetuses can survive over 12 weeks as reported. Prenatal sonographic findings combined with postnatal or postmortem discoveries showed characteristic multi-systematic anomalies.

Patient Concerns: The unborn baby of a 35-year-old pregnant woman was found to have several anomalies during a prenatal sonographic scan, including intrauterine growth retardation, ventricular septal defect, flat facial profile, and unclear bilateral kidney structures. Read More

View Article
September 2018
2 Reads

Laparoscopically Assisted Anorectoplasty for Intermediate-Type Imperforate Anus: Comparison of Surgical Outcomes with the Sacroperineal Approach.

J Laparoendosc Adv Surg Tech A 2018 Oct 2. Epub 2018 Oct 2.

1 Division of Pediatric Surgery, Saitama Children's Medical Center , Saitama, Japan .

Aim: This study aimed to compare the surgical outcomes of patients with the intermediate-type imperforate anus who underwent laparoscopically assisted anorectoplasty (LAARP; L group) with those of patients who underwent sacroperineal anorectoplasty (S group).

Materials And Methods: The medical records of patients with intermediate-type imperforate anus at a single institution between April 1983 and April 2017 were retrospectively reviewed. Fecal continence was evaluated using the clinical assessment score for fecal continence developed by the Japanese Study Group of Anorectal Anomalies (maximum score, 8). Read More

View Article
October 2018
2 Reads

The Role of Patient Advocacy and the Declining Rate of Clitoroplasty in 46,XX Patients With Congenital Adrenal Hyperplasia.

Clin Pediatr (Phila) 2018 Dec 27;57(14):1664-1671. Epub 2018 Sep 27.

1 Washington University, St Louis, MO, USA.

Prior to the 1990s, most 46,XX infants with clitoromegaly secondary to congenital adrenal hyperplasia were treated with feminizing genitoplasty to make their cosmetic appearance congruent with their genotypic sex. A 2006 consensus statement for the management of intersex disorders accepted input from patient advocates and did not support purely cosmetic surgery for clitoromegaly. This study examined the extent to which the desired change was implemented in practice. Read More

View Article
December 2018
1 Read

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.

Medicine (Baltimore) 2018 Sep;97(36):e12124

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Blepharoptosis (ptosis) is a common but often overlooked sign that may serve as a sign/manifestation of other conditions, ranging from a mild and purely cosmetic presentation to a severe and occasionally progressive disorder. Ptosis may show an acute onset or may manifest as a chronic disorder. Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders). Read More

View Article
September 2018
1 Read

Congenital dilatation of the submandibular duct.

Int J Pediatr Otorhinolaryngol 2018 Oct 10;113:16-18. Epub 2018 Jul 10.

Oral Pathology, Department of Oral Diagnosis and Pathology, Federal University of Rio de Janeiro, School of Dentistry, Rio de Janeiro, Brazil.

Congenital dilatation of the submandibular duct also known as imperforate submandibular duct is a rare condition of unknown etiology, clinically characterized as a well-defined, fluctuant swelling in the floor of the mouth, and microscopically defined as a cystic cavity covered with pseudostratified columnar epithelium consistent with a dilated salivary duct. A 1-month-old female presented with a translucent, smooth cystic swelling in the floor of the mouth causing breastfeeding difficulty. The lesion was surgically excised and microscopically, a cystic cavity lined with pseudostratified columnar epithelium was observed. Read More

View Article
October 2018
1 Read

The impact of hymenectomy on future gynecological and obstetrical outcomes.

J Matern Fetal Neonatal Med 2018 Sep 25:1-5. Epub 2018 Sep 25.

a Faculty for Health Sciences , Ben-Gurion University of the Negev , Be'er-Sheva , Israel.

Background: Imperforated hymen is a rare condition usually diagnosed at puberty due to amenorrhea accompanied by cyclic pelvic pain and sometimes other significant complications such as hematometra, endometriosis, and infertility. The accepted surgical treatment for imperforate hymen and some other hymenal malformation is hymenectomy. However, given low incidence rates, long-term obstetrical and gynecological outcomes in post-hymenectomy women remain poorly understood. Read More

View Article
September 2018
10 Reads

Spinal Column Shortening for Secondary Tethered Cord Syndrome in Children: 2-Dimensional Operative Video.

Oper Neurosurg (Hagerstown) 2018 Aug 30. Epub 2018 Aug 30.

Section of Pediatric Neurosurgery, Riley Hospital for Children, Department of Neurological Surgery, Indiana University School of Medicine, Goodman Campbell Brain and Spine, Indianapolis, Indiana.

Tethered cord syndrome is a constellation of signs and symptoms involving sensory and motor dysfunction of the lower extremities, bladder, and bowel. The pathophysiology may be from a mechanical stretch of the distal spinal cord causing deleterious changes in blood supply and metabolism. The standard of care for tethered cord syndrome has been tethered cord release. Read More

View Article
August 2018
14 Reads

[Value of MRI in the pre-operative diagnosis and classification of oblique vaginal septum syndrome].

Zhonghua Fu Chan Ke Za Zhi 2018 Aug;53(8):534-539

Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

To explore the role of MRI in the pre-operative diagnosis and classification of oblique vaginal septum syndrome (OVSS) . A retrospective analysis of the clinical records and pre-operative MRI images of 19 patients with surgery proved OVSS was carried out. Two experienced radiologists reviewed the pre-operative pelvic MRI of the 19 patients in consensus blind to the surgery results. Read More

View Article
August 2018
11 Reads

Hematometrocolpos Due to an Imperforate Hymen.

J Belg Soc Radiol 2018 Jan 3;102(1). Epub 2018 Jan 3.

AZ St.-Lucas, Bruges, BE.

View Article
January 2018
1 Read

Ultrasound imaging of the anorectal malformation during the neonatal period: a comprehensive review.

Jpn J Radiol 2018 Oct 17;36(10):581-591. Epub 2018 Aug 17.

Department of Radiology, Saitama Children's Medical Center, 1-2 Shintoshin, Chuo-ku, Saitama, Saitama, 330-8777, Japan.

Anorectal malformation (ARM) is classified as low, intermediate, or high; accurate diagnosis of the type during the early neonatal period is important to determine the appropriate initial surgical approach. This review assesses the role of ultrasound examination in the classification of ARM during the neonatal period, with a focus on landmarks on the sonogram, the approach used for sonography, and the optimal examination timing. The following three factors on the sonogram are used for the classification: location of the fistula, the distance between the distal rectal pouch and the anal dimple (perineum) (P-P distance), and the relationship between the puborectalis muscle and the distal rectal pouch. Read More

View Article
October 2018
3 Reads

Johanson-Blizzard syndrome with associated urogenital anomalies.

BMJ Case Rep 2018 Aug 10;2018. Epub 2018 Aug 10.

Vattikuti Urology Institute, Henry Ford Hospital, Detroit, Michigan, USA.

We present a case of a child with pancreatic insufficiency and facial defects typical of Johanson-Blizzard syndrome (JBS), along with the more facultative anomalies of the JBS, such as those of the urogenital system including persistent urogenital sinus, urethral duplication and dysplastic kidneys. Fetal ultrasound in a 21-year-old G1P1 woman revealed ambiguous genitalia. Examination at birth revealed a phallic structure with urethral meatus, non-palpable gonads, two orifices in close proximity in the perineum, with the anterior being a common urogenital channel and the posterior, the rectum. Read More

View Article
August 2018
11 Reads

Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach.

J Neurosurg Pediatr 2018 Aug 10:1-7. Epub 2018 Aug 10.

Department of Paediatric Neurosurgery and.

OBJECTIVE It is well established that Currarino syndrome (CS) may be associated with spinal dysraphism. Here, the authors report on 10 CS patients with dysraphic anomalies who had undergone a combined neurosurgical and general surgical approach to repair the dysraphic anomalies and resect the presacral mass in a single operation. They discuss the spectrum of spinal dysraphism that may coexist in CS in the context of its developmental etiology. Read More

View Article
August 2018
8 Reads

Decreased rectal meconium signal on MRI in fetuses with open spinal dysraphism.

Prenat Diagn 2018 Oct 31;38(11):870-875. Epub 2018 Aug 31.

Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Objective: To evaluate rectal meconium signal in fetuses with open spinal dysraphism and correlate findings with postnatal exam.

Methods: This is a single-institution Institutional Review Board-approved Health Insurance Portability and Accountability Act (HIPAA) compliant retrospective analysis of fetal MRIs of open spinal dysraphism from 2004 to 2016. Fetuses with diagnostic T1-weighted images and postnatal follow-up at our institution were included. Read More

View Article
October 2018
1 Read

Intraoperative anesthetic management of an infant with a bridging bronchus: A case report.

Paediatr Anaesth 2018 Sep 23;28(9):815-816. Epub 2018 Jul 23.

Department of Anesthesiology, Showa University Northern Yokohama Hospital, Yokohama, Japan.

A newborn infant was diagnosed with an imperforate anus, and colostomy was performed one day after birth. He exhibited repeated episodes of poor oxygenation during intubation, and a CT scan revealed a bridging bronchus. He was scheduled to undergo sacroperineal repair in the prone position 8 months later. Read More

View Article
September 2018

A retrospective study of surgical affections of mammary glands in cattle and buffaloes and their management in the field.

J Vet Med Sci 2018 Nov 18;80(10):1576-1583. Epub 2018 Jul 18.

Department of Surgery, Radiology, and Anesthesiology, Faculty of Veterinary Medicine, Assiut University, Assiut 71515, Egypt.

The present retrospective study was conducted from 2003 to 2015 in Egypt to document common surgical affections of the udder and teat in cattle and buffaloes, and determine medical and surgical treatment options that are feasible in a field setting. We diagnosed 19 different surgical affections and classified them into 4 groups according to their location. Teat orifice affections (12. Read More

View Article
November 2018

Iceberg hemangioma: A segmental cutaneous lesion marking extensive extracutanous involvement.

JAAD Case Rep 2018 Jul 6;4(6):534-539. Epub 2018 Jun 6.

Department of Dermatology, Saint Louis University, St Louis, Missouri.

View Article

Successful management of giant hydrocolpos in a limited-resource setting.

Oxf Med Case Reports 2018 Jul 4;2018(7):omy031. Epub 2018 Jul 4.

Department of Surgery, Central Hospital of Beira, Beira, Mozambique.

Abdominal distention and urinary retention are rare manifestations in newborns. The differential diagnosis of a female neonate presenting these signs, especially when combined, should include hydrocolpos due to imperforate hymen. The prognosis of imperforate hymen is generally good, although it can be associated with serious nephro-urologic and infectious complications. Read More

View Article
July 2018
19 Reads

[Rare anorectal malformation with recto-uretrobulbar fistula: about a case].

Pan Afr Med J 2017 22;28:255. Epub 2017 Nov 22.

Service de chirurgie pédiatrique viscérale, CHU Hassan II, Université Sidi Mohamed Ben Abdallah, Fès, Maroc.

We here report the case of a male newborn admitted immediately after birth with imperforate anus. Physical examination of the anal margin showed imperforate anus; the examination of the external genitalia objectified scrotal bifidity with a fistula filled with meconium at the level of the penis root. During urinary catheterization the catheter passed through the fistula (A), suggesting a rare anorectal malformation with recto-uretrobulbar fistula. Read More

View Article
June 2018
15 Reads

Hematometrocolpos in a Pubescent Girl with Abdominal Pain.

Clin Pract Cases Emerg Med 2017 Aug 6;1(3):218-220. Epub 2017 Jul 6.

UCLA Medical Center, Department of Emergency Medicine, Los Angeles, California.

Hematometrocolpos is a rare congenital abnormality of the female urogenital system that leads to an imperforate hymen and subsequent retrograde menstruation. We present the case of a 14-year-old female patient who presented to the emergency department with amenorrhea and abdominal pain, and was found to have an imperforate hymen and hematometrocolpos on trans-abdominal point-of-care ultrasound. It is important for emergency physicians to consider this diagnosis in pubescent female patients presenting with abdominal pain, as missed diagnosis can lead to infertility and other complications. Read More

View Article
August 2017
9 Reads

Examination of prezygotic and postzygotic isolating barriers in tropical Ulva (Ulvophyceae, Chlorophyta): evidence for ongoing speciation.

J Phycol 2018 Aug 25;54(4):539-549. Epub 2018 Jun 25.

Usa Marine Biological Institute, Kochi University, Inoshiri 194, Usa, Tosa, Kochi, 781-1164, Japan.

Phylogenetic clades based on DNA sequences such as the chloroplast rbcL gene and the nuclear ITS region are frequently used to delimit algal species. However, these molecular markers cannot accurately delimit boundaries among some Ulva species. Although Ulva reticulata and Ulva ohnoi occasionally bloom in tropical to warm-temperate regions and are clearly distinguishable by their reticulate or plain blade morphology, they have few or no sequence divergences in these molecular markers and form a monophyletic clade. Read More

View Article

Maternal drug use and the risk of anorectal malformations: systematic review and meta-analysis.

Orphanet J Rare Dis 2018 May 10;13(1):75. Epub 2018 May 10.

Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.

Background: Origin of anorectal malformations (ARM) are considered multifactorial. Several genetic and non-genetic risk factors are discussed in literature. Maternal periconceptional medical drug use as possible risk factor, however, has not been reviewed systematically. Read More

View Article
May 2018
7 Reads

2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia.

Int J Pediatr Otorhinolaryngol 2018 Jun 30;109:96-100. Epub 2018 Mar 30.

Clinical Research Center, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, China. Electronic address:

Deletion of 2q24.2 is a rare cytogenetic aberration in patients, exhibiting heterogeneous clinical features, and common phenotypes included developmental delay, intellectual disability, hypotonia, and mild dysmorphic features. Hearing impairment and anal atresia are rarely described. Read More

View Article
June 2018
1 Read

How to establish a successful bowel management programme in children: a tertiary paediatric centre experience.

Ir J Med Sci 2018 May 3. Epub 2018 May 3.

Beacon Hospital for Kids, Suite 36, Beacon Court, Sandyford, Dublin 18, Ireland.

Background: Bowel management is a term used to describe a medical approach to the management of faecal incontinence.

Aims: To present the outcomes of an individualised bowel management programme developed by a tertiary paediatric centre and evaluate contributory factors for successful bowel management in children.

Methods: A retrospective review of children attending a bowel management clinic in a tertiary centre in Dublin, Ireland, over 5 years (2010-2015). Read More

View Article

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

Am J Med Genet A 2018 Jul 27;176(7):1610-1613. Epub 2018 Apr 27.

Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.

Ciliopathies comprise a group of clinically heterogeneous and overlapping disorders with a wide spectrum of phenotypes ranging from prenatal lethality to adult-onset disorders. Pathogenic variants in more than 100 ciliary protein-encoding genes have been described, most notably those involved in intraflagellar transport (IFT) which comprises two protein complexes, responsible for retrograde (IFT-A) and anterograde transport (IFT-B). Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c. Read More

View Article
July 2018
2 Reads

A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations.

Am J Med Genet A 2018 Jul 28;176(7):1632-1636. Epub 2018 Apr 28.

Department of Microbiology, Integrated Research Center for Genome Polymorphism, Precision Medicine Research Center, College of Medicine, The Catholic University of Korea, Seoul, Korea.

The etiology of imperforate anus, a major phenotype of anorectal malformation (ARM), is still unknown and not a single gene has been reported to be associated with it. We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p. Read More

View Article
July 2018
3 Reads

Mermaid Syndrome: A Case Report in Mauritius.

Cureus 2018 Feb 20;10(2):e2210. Epub 2018 Feb 20.

Sir Seewoosagur Ramgoolam National Hospital.

Sirenomelia is a rare congenital malformation that results in the fusion of the lower limbs together with multiple visceral anomalies. We report a case of sirenomelia observed in Mauritius and the different findings seen in the baby. The baby had fused lower extremities and bony structures for each leg were present. Read More

View Article
February 2018
6 Reads

Successful pregnancy and delivery after simultaneous islet-kidney transplantation.

Am J Transplant 2018 Aug 10;18(8):2075-2078. Epub 2018 May 10.

Division of Transplantation, Department of Surgery, Geneva University Hospitals, Geneva, Switzerland.

Allogeneic islet of Langerhans transplantation is a recognized beta-cell replacement therapy for patients affected by type 1 diabetes mellitus. Type 1 diabetes mellitus is a condition associated with an increased risk of adverse outcomes for pregnant women and fetuses. We report the case of a 29-year-old woman with type 1 diabetes mellitus, who underwent successful allogeneic islet transplantation with simultaneous kidney transplantation. Read More

View Article
August 2018
6 Reads

Comparison Between the Pouch-Perineum Distance in Neonates With a Low-Type Anorectal Malformation With and Without an Opened Fistula: Pitfall of Measuring the Pouch-Perineum Distance on Sonography.

J Ultrasound Med 2018 Apr 9. Epub 2018 Apr 9.

Department of Radiology, Keio University School of Medicine, Tokyo, Japan.

Objective: An anorectal malformation (ARM) in neonates requires urgent surgery, with the type of surgery being dependent on the type of malformation (low, intermediate, or high). Distal rectal pouch and perineum (pouch-perineum) distance is reported to be useful for differentiating the type of ARM; however, the impact of an opened fistula on pouch-perineum distance is not well known. The purpose of this study was to evaluate the difference in pouch-perineum distance between neonates with a low-type ARM with and without an opened fistula. Read More

View Article