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Gastroenterologie Clinique Et Biologique Jan 2000
Review
Topics: Congenital Abnormalities; Hepatic Artery; Hepatic Veins; Humans; Telangiectasia, Hereditary Hemorrhagic
PubMed: 10679590
DOI: No ID Found -
Revista Brasileira de Enfermagem Dec 2019To identify maternal dilemmas about the diagnosis of fetal abnormality incompatible with life.
OBJECTIVE
To identify maternal dilemmas about the diagnosis of fetal abnormality incompatible with life.
METHOD
The exploratory-descriptive qualitative method was used. Eight women participated in the research between September/2016 and January/2017 through semi-structured interviews. The data were analyzed from the thematic analysis together with the ATLAS.ti software.
RESULTS
The experiences of this study were based on suffering and emotions. The termination choice was based on personal factors of women and families, such as information on pathology and religion. Diagnoses of incompatible fetal abnormalities bring the most different feelings to those involved. It is extremely important to establish a clear communication between woman, family and interdisciplinary team in the course of gestation and delivery, with elucidation about prognosis and therapeutic possibilities.
FINAL CONSIDERATIONS
It was visualized the importance of embracement, communication and treatment given by the multiprofessional health team.
Topics: Abortion, Legal; Adult; Congenital Abnormalities; Decision Making; Female; Fetus; Humans; Interviews as Topic; Obstetric Nursing; Pregnancy; Ultrasonography, Prenatal
PubMed: 31851244
DOI: 10.1590/0034-7167-2018-0234 -
Journal of Ovarian Research Sep 2021Inguinal hernia containing ovary and fallopian tube can be found in paediatric population and is a rare finding in women of reproductive age group. Most of the cases are...
BACKGROUND
Inguinal hernia containing ovary and fallopian tube can be found in paediatric population and is a rare finding in women of reproductive age group. Most of the cases are associated with congenital abnormalities of the female genital tract.
CASE PRESENTATION
A 20 year old female presented with right reducible inguinal hernia, primary amenorrhea and normal secondary sexual characteristics. Clinical examination revealed scoliosis with convexity towards left side, prominence of left rib cage with Sprengel deformity and right sided heart sounds. Ultrasound of the inguinal swelling revealed right ovary within the hernial sac, Chest X-ray revealed right lung collapse and dextrocardia. Further Magnetic resonance imaging (MRI) of pelvis revealed inguinal hernia with right ovary as its content, normal left ovary and absent uterus. Computed tomography (CT) revealed complete collapse of right lung with compensatory left lung hyperinflation and absent right kidney. Karyotyping of the patient was normal, 46XX. A diagnosis of MURCS syndrome with right ovarian hernia was made. The hernia was surgically managed with repositioning of ovary and fallopian tube into the pelvis.
DISCUSSION
Ovary in inguinal hernia is rare in women of reproductive age group. MRKH syndrome, a mullerian duct anomaly, is the congenital aplasia of uterus and upper two-thirds of vagina in a female with normal ovaries, fallopian tube, secondary sexual characteristics and 46XX karyotype. MURCS is a subtype of MRKH type 2 having mullerian duct agenesis with renal, cardiac, muscular & vertebral defects. General physical examination and primary investigations if yields abnormal findings; the patient must undergo an array of investigations to rule out MRKH/MURCS, or other congenital abnormality. Early diagnosis is essential to prevent its incarceration or torsion. The primary treatment of ovary in inguinal hernia is repositioning the ovary and fallopian tube back to pelvis to preserve fertility and repair of inguinal hernia. A multidisciplinary team is required to deal with various abnormalities present in a patient with MURCS.
Topics: 46, XX Disorders of Sex Development; Adult; Congenital Abnormalities; Female; Hernia, Inguinal; Humans; Mullerian Ducts; Ovarian Diseases; Young Adult
PubMed: 34474687
DOI: 10.1186/s13048-021-00869-y -
Acta Otorhinolaryngologica Italica :... Oct 2016Laryngeal and laryngotracheal clefts are rare congenital malformations of the laryngobronchial tree. Their symptoms vary from mild cough to life threatening pulmonary... (Review)
Review
Laryngeal and laryngotracheal clefts are rare congenital malformations of the laryngobronchial tree. Their symptoms vary from mild cough to life threatening pulmonary aspiration and cyanosis. Type I and II clefts can be observed without surgical intervention, whereas type III and IV clefts usually require an anterior or lateral cervical approach. We present a case of type III laryngotracheal cleft seen in a 3-monthold male infant who died during revision surgery after an anterior laryngofissure approach. We discuss the difficulties in diagnosis, management and importance of anaesthesia for these rare anomalies in light of the current literature.
Topics: Abnormalities, Multiple; Congenital Abnormalities; Fatal Outcome; Humans; Infant; Larynx; Male; Otorhinolaryngologic Surgical Procedures; Trachea
PubMed: 27070536
DOI: 10.14639/0392-100X-636 -
International Braz J Urol : Official... 2018Congenital and acquired pathologies of the seminal vesicles (SV) are rare diseases. The diagnosis of SV anomalies is frequently delayed or wrong due to the rarity of...
PURPOSE
Congenital and acquired pathologies of the seminal vesicles (SV) are rare diseases. The diagnosis of SV anomalies is frequently delayed or wrong due to the rarity of these diseases and the lack of adequate evaluation of SV pathology. For this reason, we aimed to comprehensively evaluate SV pathologies and accompanying genitourinary system abnormalities.
MATERIALS AND METHODS
Between March 2012 and December 2015, 1455 male patients with different provisional diagnosis underwent MRI. Congenital and acquired pathology of the SV was identified in 42 of these patients. The patients were categorized according to their SV pathologies. The patients were analyzed in terms of genitourinary system findings associated with SV pathologies.
RESULTS
SV pathologies were accompanied by other genitourinary system findings. Congenital SV pathologies were bilateral or predominantly in the left SV. Patients with bilateral SV hypoplasia were diagnosed at an earlier age compared to patients with unilateral SV agenesis. There was a significant association between abnormal signal intensity in the SV and benign prostate hypertrophy (BPH) and patient age.
CONCLUSION
SV pathologies are rare diseases of the genitourinary system. The association between seminal vesicle pathology and other genitourinary system diseases requires complete genitourinary system evaluation that includes the seminal vesicles.
Topics: Adult; Aged; Congenital Abnormalities; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Seminal Vesicles; Urologic Diseases; Young Adult
PubMed: 28853814
DOI: 10.1590/S1677-5538.IBJU.2017.0153 -
Sociology of Health & Illness Jul 2005Dysmorphology is the medical study of abnormal forms in the human and is concerned with the identification and classification of a variety of congenital malformations....
Dysmorphology is the medical study of abnormal forms in the human and is concerned with the identification and classification of a variety of congenital malformations. Such diagnostic work rests on the inspection of images of affected individuals. Based on physical appearance individuals are classified in terms of a wide range of conditions, often with 'exotic' nomenclatures. This paper will describe the features of clinical dysmorphology and the process of classification. It derives from an ethnographic study of clinical consultations and meetings among medical geneticists in UK hospitals. We suggest that contemporary dysmorphology can be understood in terms of long-standing forms of medical knowledge, medical representations and medical discourse. Notwithstanding the new forms of technology provided by genetic science, 'the clinic' still asserts its symbolic and functional power: the 'gaze' of the clinician and the clinician's warrant of personal knowledge exert their influence. The adjudication of dysmorphology is a contemporary exemplar of the spectacular.
Topics: Adult; Anthropology, Cultural; Child; Clinical Competence; Congenital Abnormalities; Education, Medical, Graduate; Female; Genetics, Medical; Humans; Infant; Infant, Newborn; Interprofessional Relations; Male; Phenotype; Photography; Referral and Consultation; Terminology as Topic; United Kingdom
PubMed: 16078901
DOI: 10.1111/j.1467-9566.2005.00456.x -
Ultrasound in Obstetrics & Gynecology :... Jul 2000To compare ultrasound and post-mortem findings in 98 fetuses and infants with an abnormal karyotype. (Comparative Study)
Comparative Study
OBJECTIVE
To compare ultrasound and post-mortem findings in 98 fetuses and infants with an abnormal karyotype.
DESIGN
Criteria for inclusion were an ultrasound examination at the National Center for Fetal Medicine (NCFM), an abnormal karyotype, and an autopsy performed during the period 1985-94.
RESULTS
Trisomy 18 and 21 were the two most common abnormal karyotypes. The highest number of congenital anomalies was observed in cases with trisomy 13 and 18; congenital heart defects (CHD) were most prevalent among fetuses with trisomy 18. In 80% of cases there was full agreement between the ultrasound and autopsy findings; in another 8% of cases there was nearly complete concordance. Thus, in 88% of cases, the main prenatal sonographic diagnosis was correct. In 6% major autopsy findings were not detected by ultrasound examination, in 1% none of the autopsy findings were detected by routine ultrasound and in 5% ultrasound findings were not verified at autopsy. Where the correlation was related to individual autosomal trisomies, structural anomalies were most often correctly diagnosed in fetuses with trisomy 13, with the main diagnosis correct in all cases; second in accuracy were the ultrasound diagnoses in fetuses with trisomy 21 with the main diagnosis correct in 96%; for trisomy 18 the concordance was less good, with the main diagnosis correct in 71%.
CONCLUSION
The present comparison of sonographic diagnoses with post-mortem findings demonstrates good accordance between the two methods. It also demonstrates the importance of awareness of the anomalies known to occur with different aneuploidies.
Topics: Aneuploidy; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Down Syndrome; Female; Heart Defects, Congenital; Humans; Karyotyping; Male; Trisomy; Turner Syndrome; Ultrasonography, Prenatal
PubMed: 11084963
DOI: 10.1046/j.1469-0705.2000.00157.x -
Beijing Da Xue Xue Bao. Yi Xue Ban =... Aug 2009During pregnancy, a unique and dramatic sequence of events occurs, defining the most remarkable transformation of a single cell into a recognizable human being.... (Review)
Review
During pregnancy, a unique and dramatic sequence of events occurs, defining the most remarkable transformation of a single cell into a recognizable human being. Ultrasonographic examination is play a important role for prevention of fetal birth defect. For some years, there have been dramatic advances in ultrasound technology, including improved spatial and contrast resolution, three-dimensional and four-dimenstional imaging, harmonic imaging, new and improved ultrasound sanning probes, and improved digital review workstations, to name a few. Likewise, our knowledge of normal fetal anatomy and pathology, and the pathophysiology of disease have increased substantially. The internet has made communication among researchers easier. There have been many collaborative studies and refinements of the guidelines for the performance of the obstetric ultrasound examination. But there are still some differences in the approach to the obstetric ultrasound examination from one group to the others. Some issues such as what constitutes a basic ultrasound examination, what structure should be perform and interpret the examination, how safe is ultrasound, how should it be recorded and documented, how should it be reported, and how accurate rate of diagnosis fetal congenital malformation. In conclusion is that, the appeal of the ultrasound examination is that it is a noninvasive, safe procedure that has a high degree of patient acceptance and can yield a wealth of information. It is always a delight to examine the obstetric patient and reassure her about her pregnancy, when appropriate. However, there are times when an abnormality is strongly suspected but it may be equivocal or may not fit into a specific category. Under these circumstances, the best pathway for the sonologist to is to do a follow-up examination and seek consultation. If time does not allow a follow-up examination, then the sonologist should communicate to the referring physician and the patient that a definitive answer is not possible and that decisions will have to be made with less-than-perfect information.
Topics: Congenital Abnormalities; Female; Humans; Infant, Newborn; Pregnancy; Pregnancy Trimester, First; Ultrasonography, Prenatal
PubMed: 19727247
DOI: No ID Found -
Developmental Medicine and Child... May 2016To study neuroradiological features in pediatric patients with corpus callosum abnormalities, using new functional subtyping for the corpus callosum, and to correlate...
AIM
To study neuroradiological features in pediatric patients with corpus callosum abnormalities, using new functional subtyping for the corpus callosum, and to correlate the features with the clinical presentation.
METHOD
We performed a retrospective review of 125 patients with radiologically identified abnormalities of the corpus callosum seen between 1999 and 2012. The study reviewed clinical features, genetic etiology, and chromosomal microarray (CMA) results. We used a new functional classification for callosal abnormalities based on embryological and anatomical correlations with four classes: complete agenesis, anterior agenesis (rostrum, genu, body), posterior agenesis (isthmus, splenium), and complete hypoplasia (thinning). We also studied the presence of extracallosal abnormalities.
RESULTS
The new functional callosal subtyping did not reveal significant differences between the various subtypes in association with neurological outcome; however, the presence of cardiac disease was found more frequently in the group with complete agenesis. Thirty-seven per cent (46/125) had identifiable causes: of these, 48% (22/46) had a monogenic disorder, 30% (14/46) had a pathogenic chromosomal copy-number variant detected by CMA or karyotype, and 22% (10/46) had a recognizable clinical syndrome for which no confirmatory genetic test was available (namely Aicardi syndrome/septo-optic dysplasia and Goldenhar syndrome). The diagnostic yield for a significant CMA change was 19%. The presence of Probst bundles was found to be associated with a better neurodevelopmental outcome.
INTERPRETATION
The functional classification system alone 'without clinical data' cannot predict the functional outcome. The presence of extracallosal brain abnormalities and an underlying genetic diagnosis predicted a worse neurodevelopmental outcome. This study highlights the importance of CMA testing and cardiac evaluation as part of a routine screen.
Topics: Abnormalities, Multiple; Adolescent; Agenesis of Corpus Callosum; Child; Child, Preschool; Cohort Studies; Comorbidity; Congenital Abnormalities; Female; Humans; Infant; Infant, Newborn; Male; Neurodevelopmental Disorders; Ontario; Retrospective Studies
PubMed: 26661037
DOI: 10.1111/dmcn.12978 -
Orphanet Journal of Rare Diseases Nov 2016In health services research, there is a special emphasis on the transition from adolescence into adulthood. During this transition period, adolescents change from... (Review)
Review
Treatment management during the adolescent transition period of girls and young women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS): a systematic literature review.
INTRODUCTION
In health services research, there is a special emphasis on the transition from adolescence into adulthood. During this transition period, adolescents change from pediatric to adult medical care. This process must be carefully structured, particularly when special medical care is required. Challenges and difficulties become apparent particularly in the case of rare diseases. This is increasingly so when the rare disease affects the adolescence-specific development of patients, such as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), also known as Müllerian agenesis.
METHODS
A systematic literature review identified the care requirements of girls and young women with MRKHS, as well as studies of medical care during the adolescent transition period for various other diseases. This investigation was carried out in the years 2012 and 2013, and was updated in 2014/2015. In addition, the reference lists of the identified studies were reviewed.
RESULTS
Nine publications on MRKHS and ten publications on the transition from adolescence to adulthood were included. Medical care requirements and measures were identified for the following areas: diagnosis during adolescence and organization of medical care, reactions to the diagnosis, functional infertility, psychological stress and threat to self-image, contact with others, and dealing with MRKHS coping strategies.
DISCUSSION
There is still a great demand for research in the area of care during the transition period from adolescence into adulthood, particularly for rare diseases. The recommendations for treating MRKHS patients derived from the literature should be implemented and evaluated with regard to their effectiveness.
Topics: 46, XX Disorders of Sex Development; Adolescent; Congenital Abnormalities; Female; Humans; Mullerian Ducts; Self Concept; Young Adult
PubMed: 27852280
DOI: 10.1186/s13023-016-0536-6