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1.
BMJ Case Rep ; 14(2)2021 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-33563679

RESUMO

We present an adolescent girl with a 1-day history of acute urinary retention and lower abdominal pain. She was admitted to the paediatric ward for ongoing treatment and investigations. Due to a myriad of factors including pain and anxiety, challenges posed included an incomplete initial abdominal and external genital examination. This case report highlights the importance of a focused history and performing an appropriate sensitive examination at the time of presentation. Furthermore, we explore the common causes of new onset urinary retention and unravel the case as it unfolds. We also highlight differential diagnoses (however, uncommon), which must be considered and not overlooked to avoid unnecessary investigations and to ensure timely management.


Assuntos
Dor Abdominal/diagnóstico , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/cirurgia , Hímen/anormalidades , Retenção Urinária/diagnóstico , Dor Abdominal/terapia , Adolescente , Diagnóstico Diferencial , Feminino , Humanos , Hímen/cirurgia , Anamnese , Retenção Urinária/terapia
2.
BMJ Case Rep ; 14(1)2021 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-33462044

RESUMO

A 126-day female child presented with jaundice since day 7 of life. She was icteric and had hepatosplenomegaly. Radiological investigations revealed three extrahepatic and multiple intrahepatic biliary cysts, absent gall bladder and portal vein. These findings were confirmed on laparotomy. To the best of our knowledge, this is the first report of cystic biliary atresia associated with congenital absence of portal vein.


Assuntos
Atresia Biliar/diagnóstico , Anormalidades Congênitas/diagnóstico , Vesícula Biliar/anormalidades , Veia Porta/anormalidades , Atresia Biliar/etiologia , Atresia Biliar/cirurgia , Anormalidades Congênitas/cirurgia , Evolução Fatal , Feminino , Vesícula Biliar/cirurgia , Humanos , Lactente
3.
BMJ Case Rep ; 14(1)2021 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-33462046

RESUMO

Congenital malformations of the seminal vesicles (SVs) are rare and are associated with abnormalities of the ipsilateral urinary tracts as embryologically both the ureteral buds and SVs arise from the mesonephric ducts. The triad of SV cysts, ipsilateral renal agenesis and ejaculatory duct obstruction is known as the Zinner syndrome. We, herein, present three very rare presentations of Zinner syndrome. Case 1 presented with haematuria, and was found to have a large SV cyst with stones and underwent a robotic cyst excision. Case 2 presented with primary infertility, and was found to have a variant of Zinner syndrome. Case 3 was a known case of chronic kidney disease on maintenance haemodialysis who presented with fever and oliguria. He was found to have Zinner syndrome and underwent aspiration of SV abscess. To the best of our knowledge, such varying presentations of Zinner syndrome have been rarely reported thus far.


Assuntos
Anormalidades Congênitas/diagnóstico , Ductos Ejaculatórios/anormalidades , Nefropatias/congênito , Rim/anormalidades , Glândulas Seminais/anormalidades , Adulto , Humanos , Nefropatias/complicações , Nefropatias/diagnóstico , Masculino , Pessoa de Meia-Idade , Síndrome , Adulto Jovem
4.
Rev. cuba. pediatr ; 92(4): e977, oct.-dic. 2020. tab, graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1144516

RESUMO

Introducción: Las malformaciones congénitas del riñón y del tracto urinario representan entre 20 y 30 por ciento de todas las malformaciones reconocidas en humanos. Objetivo: Identificar los antecedentes patológicos familiares y las enfermedades durante el embarazo asociados a la aparición de defectos congénitos renales. Métodos: Estudio descriptivo prospectivo transversal realizado en 672 niños nacidos entre julio de 2014 y junio de 2015 en Santa Clara, con ultrasonido prenatal normal. A todos los niños durante la consulta médica se les hizo examen físico detallado y previo consentimiento informado del familiar acompañante, se aplicó a estos una encuesta y se registraron variables epidemiológicas, antecedentes familiares de enfermedades renales, morbilidad de la madre durante el embarazo y se realizó un ultrasonido renal para identificar las alteraciones sonográficas sugerentes de algún tipo de anomalías del desarrollo renal. Resultados: En 40 (5,95 por ciento) pacientes se detectó alteración sonográfica. El 27,50 por ciento eran hijos de madres que presentaron alguna enfermedad durante el embarazo. La glucemia elevada afectó 10 por ciento de las madres de los niños con anomalías del desarrollo renal, seguida del bajo peso materno (7,5 por ciento). El hecho de presentar antecedente patológico familiar de enfermedad renal aportó un riesgo de 1,88 y en las de tipo obstructivo el riesgo fue de 5,08. Conclusiones: Las alteraciones sonográficas sugestivas de malformación congénita renal son más frecuentes en los lactantes cuyas madres presentaron concentraciones elevadas de glucosa y bajo peso durante el embarazo. Los niños con antecedentes familiares de malformación renal tienen mayor riesgo de presentar una anomalía del desarrollo renal(AU)


Introduction: Kidney and urinary tract´s malformations represent among 20 and 30 percent of all malformations known in humans. Objective: To identify during pregnancy family pathological history and diseases associated to the onset of renal congenital malformations. Methods: Prospective, descriptive, cross-sectional study carried out to 672 children with normal prenatal ultrasound whom were born from July, 2014 to June 2015 in Santa Clara province. All children during the medical consultation had a detailed physical examination and previous informed concent; it was applied also a survey and the epidemiologic variables, family history of renal diseases, morbility of the mother during pregnancy were recorded, and it was made a renal ultrasound to identify sonographic alterations suggesting any kind of anomaly in the renal development. Results: In 40 patients (5,95 percent), it was detected any sonographic alteration. 27,50 percent were children of mothers that presented any disease during pregnancy. High glycemia affected the 10 percent of mothers of children with anomalies in the renal development, followed by low maternal weight (7,5 percent). The fact of presenting a family pathological history of renal disease implied a risk of 1,88 percent and the risk was of 5,08 percent in the obstructive kind of diseases. Conlusions: Sonographic alterations suggesting renal congenital malformations are more frequent in newborns whose mothers had high concentrations of glycemia and low weight during pregnancy. Children with family history of renal malformations have higher risk of presenting an anomaly of the renal development(AU)


Assuntos
Humanos , Masculino , Feminino , Lactente , Anormalidades Congênitas/diagnóstico , Insuficiência Renal Crônica/etiologia , Rim/anormalidades , Sistema Urinário/anormalidades , Epidemiologia Descritiva , Estudos Transversais , Estudos Prospectivos
5.
BMC Med Genet ; 21(1): 185, 2020 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-32962661

RESUMO

BACKGROUND: Genetic eye diseases constitute a large and heterogeneous group of childhood ocular morbidity. Individual diseases may cause multiple structural anomalies and developmental features. Nepal Pediatric Ocular Disease Study (NPODS) was a population-based epidemiological study conducted across three ecological regions of Nepal to determine the prevalence and etiology of childhood ocular morbidity and blindness. In Phase II of this study, genetic analysis was performed for children who were found to have congenital ocular anomalies. METHOD: It was a cross sectional descriptive study. A total of 10,270 children across three different ecological regions in Nepal (Low lands, hills, and mountains) underwent ocular examinations in NPODS. Out of 374 (3.6%) of children with ocular abnormalities, 30 were thought to be congenital in nature. Targeted genetic analysis, including genotyping for genes specific to presenting phenotype, was performed for 25 children using serum samples. RESULTS: Out of 25 children, 18 had meaningful genetic results. Analysis revealed one missense alteration G12411T of Zinc Finger Homeobox 4 (ZFHX4) gene in one participant among 10 with congenital ptosis and another missense variation T > C P. Y374 C of Signaling Receptor and Transporter Retinol 6 (STRA6) gene in one participant among 3 with microphthalmos. CONCLUSION: The study is first of its kind from Nepal and mutant genes were unique to Nepalese Population. Further analysis of genetic factors is crucial to better understand genetic association with ocular diseases and conditions. This helps further in genetic counseling and probably gene therapy to prevent blindness from these conditions.


Assuntos
Cegueira/genética , Anormalidades Congênitas/genética , Oftalmopatias/genética , Predisposição Genética para Doença/genética , Mutação de Sentido Incorreto , Adolescente , Altitude , Cegueira/diagnóstico , Cegueira/epidemiologia , Criança , Pré-Escolar , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/epidemiologia , Estudos Transversais , Oftalmopatias/diagnóstico , Oftalmopatias/epidemiologia , Feminino , Proteínas de Homeodomínio/genética , Humanos , Lactente , Recém-Nascido , Masculino , Proteínas de Membrana/genética , Nepal/epidemiologia , Prevalência , Fatores de Transcrição/genética
6.
MMWR Morb Mortal Wkly Rep ; 69(36): 1265-1268, 2020 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-32915168

RESUMO

Newborn screening (NBS) identifies infants at risk for congenital disorders for which early intervention has been shown to improve outcomes (1). State public health programs are encouraged to screen for disorders on the national Recommended Uniform Screening Panel (RUSP), which increased from 29 disorders in 2005 to 35 in 2018.* The RUSP includes hearing loss (HL) and critical congenital heart defects, which can be detected through point-of-care screening, and 33 disorders detected through laboratory screening of dried blood spot (DBS) specimens. Numbers of cases for 33 disorders on the RUSP (32 DBS disorders and HL) reported by 50 U.S. state programs were tabulated. The three subtypes of sickle cell disease (SCD) listed as separate disorders on the RUSP (S,S disease; S,beta-thalassemia; and S,C disease) were combined for the current analysis, and the frequencies of the resulting disorders were calculated relative to annual births. During 2015-2017, the overall prevalence was 34.0 per 10,000 live births. Applying that frequency to 3,791,712 live births in 2018,† approximately 12,900 infants are expected to be identified each year with one of the disorders included in the study. The most prevalent disorder is HL (16.5 per 10,000), and the most prevalent DBS disorders are primary congenital hypothyroidism (CH) (6.0 per 10,000), SCD (4.9 per 10,000), and cystic fibrosis (CF) (1.8 per 10,000). Notable changes in prevalence for each of these disorders have occurred since the previous estimates based on 2006 births (2). The number of infants identified at a national level highlights the effect that NBS programs are having on infant health through early detection, intervention, and potential improved health, regardless of geographic, racial/ethnic, or socioeconomic differences.


Assuntos
Anormalidades Congênitas/diagnóstico , Triagem Neonatal , Anormalidades Congênitas/epidemiologia , Humanos , Recém-Nascido , Prevalência , Estados Unidos/epidemiologia
7.
Rev. cuba. estomatol ; 57(3): e3060, jul.-set. 2020. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1126525

RESUMO

RESUMEN Introducción: Durante la odontogénesis se pueden producir malformaciones congénitas que afectan la forma, el número, el tamaño, la estructura, la posición, el color y la erupción de los dientes. En las personas con discapacidades como parálisis cerebral, trastorno del desarrollo intelectual, síndrome de Down y trastorno del espectro autista, pueden presentarse variedad de anomalías dentales. Objetivo: Describir las anomalías dentales en las condiciones de discapacidad de parálisis cerebral, trastorno del desarrollo intelectual, síndrome de Down y trastorno del espectro autista. Métodos: Se realizó una búsqueda bibliográfica en las bases de datos Clinical Key, Medline, Dialnet y SciELO. Se aplicó la lista de comprobación PRISMA. Análisis e integración de la información: Posterior al proceso de lectura y análisis de la información, se recuperaron 800 artículos de las bases de datos, se eliminaron 590 por encontrarse repetidos. Luego de la discriminación, quedaron para revisar 210, a estos restantes se hizo la revisión de texto completo. Se eliminaron 193 no hacían referencia a anomalías dentales y/o a los trastornos o síndromes. De los 17 restantes, solo 15 cumplieron con los criterios de inclusión. Conclusiones: No se encontraron diferencias para afirmar que algunas de las anomalías y alteraciones presentadas correspondan de manera individual a cada tipo de discapacidad. Sin embargo, el síndrome de Down presenta anomalías dentales relacionadas al estado del paciente. La parálisis cerebral reporta otros hallazgos como bruxismo, debido al deficiente desarrollo muscular, lo que afecta la cavidad bucal y sus estructuras(AU)


ABSTRACT Introduction: During odontogenesis, congenital malformations can occur that affect teeth shape, number, size, structure, position, color and eruption. In people with disabilities such as cerebral palsy, intellectual development disorder, Down syndrome, and autism spectrum disorder, a variety of dental abnormalities can occur. Objective: To describe dental anomalies in such disability conditions as cerebral palsy, intellectual development disorder, Down syndrome and autism spectrum disorder. Methods: A bibliographic search was performed in the databases Clinical Key, Medline, Dialnet and SciELO. The PRISMA checklist was applied. Information analysis and integration: After reading and analyzing the information, 800 articles were retrieved from the databases, of which 590 were deleted because they were repeated. After the discrimination, 210 were pending to review; the remaining ones were reviewed full-text. 193 were deleted because they did not do any reference to dental anomalies and/or disorders or syndromes. Of the remaining 17, only 15 met the inclusion criteria. Conclusions: No differences were found to affirm that some of the anomalies and alterations presented correspond individually to each type of disability. However, Down syndrome has dental abnormalities related to patient condition. Cerebral palsy coincides with other findings such as bruxism, due to poor muscle development, which affects the oral cavity and its structures(AU)


Assuntos
Humanos , Anormalidades Dentárias/terapia , Anormalidades Congênitas/diagnóstico , Pessoas com Deficiência , Odontogênese/fisiologia , Literatura de Revisão como Assunto , Bases de Dados Bibliográficas , Síndrome de Down/diagnóstico , Transtorno do Espectro Autista/diagnóstico
9.
BMC Womens Health ; 20(1): 135, 2020 06 29.
Artigo em Inglês | MEDLINE | ID: mdl-32600323

RESUMO

BACKGROUND: The Mayer-Rokitansky-Küster-Hauser syndrome, MRKHS, is a rare (orphan) disease characterized by the aplasia or hypoplasia of the uterus and the vagina. In women's health research, little is known as to how much care provision for patients with MRKHS takes into account their socio-demographic together with their clinical characteristics. This work examines the patients' socio-demographic characteristics, highlighting issues of inappropriate and deficient provision of care. METHODS: The study was carried out as part of the larger TransCareO project and included a group of N=129 MRKHS patients who underwent surgery between 2008 and 2012. Using a specially developed questionnaire, we analyzed MRKHS patients' data found both in the clinical documentation of the Department for Women's Health, University Hospital of Tübingen and the patient surveys of the Center for Rare Genital Malformations (CRGM/ ZSGF). Patients who took part in interviews were compared with non-respondents. RESULTS: Patient respondents and non-respondents did not differ as to the parameters of interest. In most cases, primary amenorrhea was reported as an admission reason. In 24% of patients, a medical intervention (hymenal incision or hormone treatment) already occurred before admission to the Center in Tübingen and proper diagnosis of MRKHS. About one third received in advance inappropriate treatment. During the therapy, more than half of the patients were in a solid partnership. 10% of the family anamneses documented the occurrence of urogenital malformations. CONCLUSIONS: Care provision for MRKHS patients is largely characterized by delayed proper diagnosis and in part, by inappropriate treatment attempts; there are also indications of regional differences. Anamnestic clues such as an asymptomatic amenorrhea or renal abnormalities of unclear origin still fail to result early enough in referral to a center on the basis of suspected MRKHS diagnosis. Urogenital malformations in the family are more common in patients than in the general population. For patients, a wide range of burdens are associated with the diagnosis. Abnormalities compared to their female peers occur, for instance, in the partnership status: MRKHS patients have more rarely a partner.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Anormalidades Congênitas/diagnóstico , Ductos Paramesonéfricos/anormalidades , Útero/anormalidades , Vagina/anormalidades , Adolescente , Adulto , Feminino , Pesquisa sobre Serviços de Saúde , Humanos , Pessoa de Meia-Idade , Doenças Raras , Fatores Socioeconômicos , Saúde da Mulher , Adulto Jovem
10.
J Laryngol Otol ; 134(7): 610-622, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32686623

RESUMO

OBJECTIVE: To depict various temporal bone abnormalities on high-resolution computed tomography in congenital aural atresia patients, and correlate these findings with auditory function test results and microtia subgroup. METHODS: Forty patients (56 ears) with congenital malformation of the auricle and/or external auditory canal were evaluated. Auricles were graded according to Marx's classification, divided into subgroups of minor (grades I and II) and major (III and IV) microtia. Other associated anomalies of the external auditory canal, tympanic cavity, ossicular status, oval and round windows, facial nerve, and inner ear were evaluated. RESULTS: Minor and major microtia were observed in 53.6 and 46.4 per cent of ears respectively. Mean hearing levels were 62.47 and 62.37 dB respectively (p = 0.98). The malleus was the most commonly dysplastic ossicle (73.3 vs 80.8 per cent of ears respectively, p = 0.53). Facial nerve (mastoid segment) abnormalities were associated (p = 0.04) with microtia subgroup (80 vs 100 per cent in minor vs major subgroups). CONCLUSION: Microtia grade was not significantly associated with mean hearing levels or other ear malformations, except for external auditory canal and facial nerve (mastoid segment) anomalies. High-resolution computed tomography is essential in congenital aural atresia, before management strategy is decided.


Assuntos
Anormalidades Congênitas/diagnóstico por imagem , Orelha/anormalidades , Adolescente , Adulto , Criança , Pré-Escolar , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/patologia , Microtia Congênita/diagnóstico , Microtia Congênita/diagnóstico por imagem , Estudos Transversais , Orelha/diagnóstico por imagem , Orelha/patologia , Meato Acústico Externo/diagnóstico por imagem , Meato Acústico Externo/patologia , Nervo Facial/diagnóstico por imagem , Nervo Facial/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Osso Temporal/diagnóstico por imagem , Osso Temporal/patologia , Tomografia Computadorizada por Raios X/métodos , Adulto Jovem
11.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 47(2): 75-77, abr.-jun. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-193715

RESUMO

El síndrome de Herlyn-Werner-Wünderlich es una anomalía congénita rara del tracto urogenital que afecta a los conductos de Müller y de Wolff con la tríada útero didelfo, obstrucción de hemivagina y agenesia renal ipsilateral. Las pacientes suelen estar asintomáticas hasta la menarquía, y a partir de entonces la clínica dependerá del grado de obstrucción vaginal, apareciendo frecuentemente masa y dolor pélvico. El diagnóstico suele ser radiológico, siendo de elección la resonancia de abdomen y pelvis que nos confirmará las alteraciones genitourinarias en su totalidad, y el tratamiento es quirúrgico con resección del tabique y drenaje de la vagina obstruida


Herlyn-Werner-Wünderlich syndrome is a rare congenital anomaly of the urogenital tract affecting the Müller and Wolff ducts with the uterus didelphys triad, hemivagina obstruction and ipsilateral renal agenesis. Patients are usually asymptomatic until menarche and thereafter the clinical practice will depend on the degree of vaginal obstruction, with frequently appearing mass and pelvic pain. The diagnosis is usually radiological, with the resonance of abdomen and pelvis chosen that will confirm us the genitourinary alterations in its totality and the treatment is surgical with resection of the septum and drainage of the obstructed vagina


Assuntos
Humanos , Feminino , Adolescente , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/cirurgia , Dismenorreia/etiologia , Anormalidades Congênitas/diagnóstico , Ductos Paramesonéfricos/patologia , Ductos Mesonéfricos/anormalidades , Ductos Mesonéfricos/patologia , Hematocolpia/diagnóstico por imagem , Dor Abdominal/etiologia , Síndrome
12.
Birth Defects Res ; 112(14): 1039-1042, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32415915

RESUMO

In recent months, various public health measures have been implemented throughout the world in response to the coronavirus disease 2019 (COVID-19) pandemic. This outbreak, and the subsequent containment policies, may have a range of potential short- and long-term impacts on the monitoring and surveillance of other conditions, such as birth defects. In this commentary, we provide a perspective on these potential impacts on birth defects surveillance and analysis. We discuss possible effects on clinical birth defect diagnoses, routine birth defects surveillance system activities, and epidemiologic considerations, as well as opportunities for mitigating the impact of COVID-19. Like many other sectors of public health and medicine, birth defects surveillance programs may be faced with organizational and methodological obstacles in the wake of a changing landscape. A better understanding of these potential challenges faced by birth defects surveillance programs could facilitate better planning and collaboration across programs to overcome barriers to core activities and to prepare for novel opportunities for research and prevention.


Assuntos
Betacoronavirus/patogenicidade , Anormalidades Congênitas/diagnóstico , Infecções por Coronavirus/complicações , Transmissão Vertical de Doença Infecciosa/prevenção & controle , Pneumonia Viral/complicações , Vigilância da População/métodos , Complicações Infecciosas na Gravidez/diagnóstico , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/virologia , Infecções por Coronavirus/transmissão , Infecções por Coronavirus/virologia , Feminino , Humanos , Pandemias , Pneumonia Viral/transmissão , Pneumonia Viral/virologia , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/virologia , Estados Unidos/epidemiologia
13.
Adv Clin Exp Med ; 29(4): 505-511, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32348039

RESUMO

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and the upper 2/3 of the vagina; its incidence is 1 in 4,000-5,000 female live births. We can distinguish 2 types of the MRKH syndrome: type I, which is characterized by an isolated absence of 2/3 of the vagina and uterus; and type II or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies), which is also associated with other symptoms. The treatment of the MRKH syndrome patients aims at creating a neovagina and enabling sexual intercourse. Non-surgical techniques are the first-choice methods, and more than 90% of patients notice an anatomical and functional improvement if they are well-prepared emotionally. If non-surgical treatment does not bring about the expected results, a surgical procedure remains an option. The surgical method is mainly determined by the surgeon's experience. There are a few types of operations, though none of them seems superior to others. The next challenge is to provide these patients with a chance to become parents. Nowadays, a uterine transplant, a surrogate or adoption are the available solutions. An interdisciplinary approach is required, and the treatment should consist of medical and psychological support. This review presents the current knowledge about the MRKH syndrome with regard to the current methods of non-surgical and surgical treatment as well as a summary of the associated psychological problems.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Ductos Paramesonéfricos/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Transtornos 46, XX do Desenvolvimento Sexual/genética , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Anormalidades Congênitas/cirurgia , Feminino , Humanos , Ductos Paramesonéfricos/cirurgia , Útero/anormalidades , Vagina/anormalidades
14.
Int J Pediatr Otorhinolaryngol ; 133: 109999, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32224391

RESUMO

BACKGROUND AND OBJECTIVE: Research has shown that it is important to initiate ear molding early for children with auricular malformations in order to achieve the best results. Currently our institute relies on the traditional primary care physician (PCP) referral system, which does not recognize the time sensitivity of the visit in patients with auricular malformations. The purpose of the current research is to implement a new screening protocol for identifying auricular malformations in the newborn population and thus expedite the clinic visit and necessary intervention. METHODS: The hearing screen technicians (HSTs) were trained to identify some of the most common auricular malformations. A picture guide of 11 types of auricular malformations were given to the HSTs to use as a reference. At the time of the newborn hearing screen, the HSTs examined the pinnas of each baby. When an auricular malformation was identified, the auricular malformation team was immediately alerted and a bedside consultation with ENT occurred. RESULTS: Comparison was made of the referral rate between pre- and post-implementation of the protocol which showed an increased rate of identification (five referrals in the 12-month period pre-implementation versus eighteen referrals in the 15-month period post-implementation). CONCLUSION: We successfully implemented an auricular malformation screening protocol that was linked to newborn hearing screenings. The frequency of identification has increased with the implementation of the new screening protocol and has resulted in earlier initial ENT consultations for ear molding with the goal of improving patient satisfaction and results.


Assuntos
Anormalidades Congênitas/diagnóstico , Pavilhão Auricular/anormalidades , Encaminhamento e Consulta/estatística & dados numéricos , Anormalidades Congênitas/terapia , Auxiliares de Audição , Testes Auditivos , Humanos , Recém-Nascido , Triagem Neonatal , Otolaringologia
15.
Artigo em Inglês | MEDLINE | ID: mdl-32276325

RESUMO

Introduction: High levels of environmental contaminants with long term effects and teratogenic and carcinogenic potential, such as heavy metals, were introduced by weaponry in war areas in the last decades. Poorer reproductive health and increases in non-communicable diseases were reported after wars and are the suspected long term effects of contamination by stable war remnants. Although potentially affecting millions of people, this is still an understudied issue of public health. Background: Gaza, Palestine since 2006 has been an object of repeated severe military attacks that left heavy metals remnants in the environment, in wound tissues and that were assumed by the population. Retrospective studies showed a progressive increase in birth defects since the 2006 attacks. In 2011 we started surveillance at birth alongside analysis of the heavy metals load carried by pregnant women and their babies. Methods: We used protocols for birth registration which also document the extent of exposures to attacks, war remnants and to other environmental risks that allow comparison of 3 data sets-2011, 2016 and 2018-2019 (4000-6000 women in each set). By ICP/MS analysis we determined the content of 23 metals in mothers' hair. Appropriate statistical analysis was performed. Results: Comparison of data in birth registers showed a major increase in the prevalence in birth defects and preterm babies between 2011 and 2016, respectively from 1.1 to 1.8% and from 1.1 to 7.9%, values remaining stable in 2019. Negative outcomes at birth in 2016 up to 2019 were associated with exposure of the mothers to the attacks in 2014 and/or to hot spots of heavy metals contamination. Metal loads since the attacks in 2014 were consistently high until 2018-2019 for barium, arsenic, cobalt, cadmium, chrome, vanadium and uranium, pointing to these metals as potential inducers for the increased prevalence of negative health outcomes at birth since 2016. Conclusions: Bodily accumulation of metals following exposure whilst residing in attacked buildings predispose women to negative birth outcomes. We do not know if the metals act in synergy. Trial for mitigation of the documented negative effects of high metal load on reproductive health, and ensuing perinatal deaths, could now be done in Gaza, based on this documentary record. High load of heavy metals may explain recent increases in non-communicable diseases and cancers at all ages in Gaza. Modern war's legacy of diseases and deaths extends in time to populations and demands monitoring.


Assuntos
Conflitos Armados , Anormalidades Congênitas/epidemiologia , Exposição Ambiental/efeitos adversos , Poluentes Ambientais/toxicidade , Metais Pesados/toxicidade , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Saúde Reprodutiva , Exposição à Guerra/efeitos adversos , Animais , Criança , Anormalidades Congênitas/diagnóstico , Monitoramento Ambiental , Feminino , Humanos , Saúde do Lactente , Recém-Nascido , Masculino , Oriente Médio , Gravidez , Nascimento Prematuro , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Prevalência , Estudos Retrospectivos , Inquéritos e Questionários
16.
Medicine (Baltimore) ; 99(12): e19578, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32195971

RESUMO

INTRODUCTION: Spondyloptosis is a form of vertebral dislocation and the most advanced form of spondylolisthesis. Traumatic spondyloptosis is usually caused by high-energy impact and results in unstable spine deformity and spinal canal deformation, which lead to severe spinal cord injury. Traumatic spondyloptosis is mostly reported in the lumbo-sacral junction, while it is rarely documented in mid-lumbar segments. To the best of the authors' knowledge, only 16 cases of mid-lumbar spondyloptosis have been described previously. Herein, we present a L3 to L4 spondyloptosis case that did not involve neurological deficit. PATIENT CONCERNS: A 42-year-old man presented to the emergency department after an accident involving a fall. The patient developed severe back pain and spinal deformity, while his neurologic function remained intact. Radiological examinations indicated complete posterior vertebral dislocation at L3 to L4 and a fracture at the bilateral pelvic ischial tuberosity without major vessel injury or severe dura sac compression. DIAGNOSES: L3 to L4 complete vertebral dislocation, pelvic ischial tuberosity fracture. INTERVENTIONS: For treatment, the patient underwent fracture reduction, L3 to L4 intervertebral fusion, and internal fixation 7 days post-injury. OUTCOMES: Postoperative digital radiography showed the correction of the spinal deformity. The patient was pain-free and fully rehabilitated 3 months after the surgery. At the 1-year follow-up, the patient was completely asymptomatic and had achieved normal alignment. CONCLUSIONS: We reported an L3 to L4 traumatic spondyloptosis case that involved intact neurology, which is the first-ever reported mid-lumbar spondyloptosis case that involved complete posterior column and neural sparing. For the treatment of traumatic spondyloptosis without neurological deficit, restoring stability and preventing secondary cord injury should be taken into consideration.


Assuntos
Dor nas Costas/diagnóstico , Anormalidades Congênitas/diagnóstico , Vértebras Lombares/lesões , Espondilolistese/diagnóstico por imagem , Acidentes por Quedas , Adulto , Assistência ao Convalescente , Criança , Pré-Escolar , Feminino , Fixação Interna de Fraturas/métodos , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/cirurgia , Humanos , Luxações Articulares/diagnóstico por imagem , Luxações Articulares/cirurgia , Vértebras Lombares/patologia , Masculino , Pessoa de Meia-Idade , Ossos Pélvicos/lesões , Ossos Pélvicos/patologia , Radiografia/métodos , Fusão Vertebral/métodos , Coluna Vertebral/anormalidades , Espondilolistese/cirurgia , Resultado do Tratamento
17.
Zhonghua Fu Chan Ke Za Zhi ; 55(2): 94-99, 2020 Feb 25.
Artigo em Chinês | MEDLINE | ID: mdl-32146737

RESUMO

Objective: To explore the relationship between fetal nuchal translucency (NT) in the first trimester and pregnancy outcome. Methods: A prospective cohort study was conducted in Nanjjing Drum Tower Hospital from December 2015 to December 2018, 4 958 singleton pregnant women were enrolled to screen fetal ultrasound structure and serology in the first trimester, ultrasound in the second trimester and neonatus physical examination 28 days after birth. According to the results of NT, 167 cases of fetus with increased NT (≥3.0 mm) and 4 791 cases of normal NT were divided, moreover, 86 cases with isolate increased NT and 81 cases of increased NT combined with structural abnormality. The prognosis of fetuses with different NT thickness was analyzed, and the pregnancy outcome of fetuses with isolate increased NT or combined with structural abnormality were analyzed. In the first trimester, if the fetal structure was abnormal or the serological screening result was high risk, the chromosomal microarray analysis (CMA) would be performed by chorionic villus sampling to determine the prenatal diagnosis. Results: (1) The pregnancy outcome for fetus of normal NT: there were 4 791 cases with normal NT. Totally, 4 726 cases with normal NT and no structural abnormalities were screened out in the firsttrimester. In this group, 5 cases of aneuploidies were diagnosed based on high risk of maternal serum biomarkers and 83 cases of structural abnormalities were screened out in the subsequent ultrasound scan and the neonatal examination. Another 65 cases with normal NT present complicated with structural anomalies were screened out in the first trimester and 4 cases were diagnosed as aneuploidies. (2) The pregnancy outcome for fetus of isolate increased NT: 66 (76.7%, 66/86) cases of isolated increased NT were performed CMA, 3 cases were diagnosed as trisomy 21 and terminated pregnancy. Another 4 cases were terminated pregnancy privately without cytogenetic diagnosis. No further anomalies were found in 79 cases till 6 to 21 months postnatally. (3) The pregnancy outcome for fetus of increased NT with structural anomalies: increased NT present with structural anomalies were screened out by detailed anomaly scan in the first trimester and 32 of them were confirmed as aneuploidies. In this group, 70 cases terminated pregnancy, 2 cases had spontaneous miscarriages and 9 cases had liveborns (1 newborn was found ventricular septal defect). (4) The pregnancy outcome for fetus of increased NT with or without structural anomalies: the percentage of aneuploidies in fetuses with isolated increased NT (3.5%, 3/86) was significantly lower than those with structural abnormalities (39.5%,32/81). The healthy survival rate in fetuses with isolated increased NT (91.9%,79/86) was significantly higher than those with structural abnormalities (9.9%, 8/81). Conclusions: A detailed first-trimester anomaly scan could improve prenatal screening efficiency of birth defects. Compared to the fetuses with increased NT combined with structural abnormalities, the healthy survival rate of fetuses with isolated increased NT based on detailed first-trimester anomaly scan is higher and the percentage of fetal aneuploidies is lower.


Assuntos
Feto/diagnóstico por imagem , Medição da Translucência Nucal/métodos , Resultado da Gravidez , Ultrassonografia Pré-Natal/métodos , Aneuploidia , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/etiologia , Feminino , Humanos , Recém-Nascido , Valor Preditivo dos Testes , Gravidez , Primeiro Trimestre da Gravidez , Estudos Prospectivos
18.
Clin Chem ; 66(3): 455-462, 2020 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-32031585

RESUMO

BACKGROUND: Capture sequencing (CS) is widely applied to detect small genetic variations such as single nucleotide variants or indels. Algorithms based on depth comparison are becoming available for detecting copy number variation (CNV) from CS data. However, a systematic evaluation with a large sample size has not been conducted to evaluate the efficacy of CS-based CNV detection in clinical diagnosis. METHODS: We retrospectively studied 3010 samples referred to our diagnostic laboratory for CS testing. We used 68 chromosomal microarray analysis-positive samples (true set [TS]) and 1520 reference samples to build a robust CS-CNV pipeline. The pipeline was used to detect candidate clinically relevant CNVs in 1422 undiagnosed samples (undiagnosed set [UDS]). The candidate CNVs were confirmed by an alternative method. RESULTS: The CS-CNV pipeline detected 78 of 79 clinically relevant CNVs in TS samples, with analytical sensitivity of 98.7% and positive predictive value of 49.4%. Candidate clinically relevant CNVs were identified in 106 UDS samples. CNVs were confirmed in 96 patients (90.6%). The diagnostic yield was 6.8%. The molecular etiology includes aneuploid (n = 7), microdeletion/microduplication syndrome (n = 40), and Mendelian disorders (n = 49). CONCLUSIONS: These findings demonstrate the high yield of CS-based CNV. With further improvement of our CS-CNV pipeline, the method may have clinical utility for simultaneous evaluation of CNVs and small variations in samples referred for pre- or postnatal analysis.


Assuntos
Variações do Número de Cópias de DNA , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Algoritmos , Aneuploidia , Anormalidades Congênitas/diagnóstico , Exoma , Reações Falso-Positivas , Feminino , Humanos , Masculino , Análise de Sequência com Séries de Oligonucleotídeos , Estudos Retrospectivos
19.
PLoS Med ; 17(2): e1003047, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-32092053

RESUMO

BACKGROUND: China implemented a partial two-child policy (2013) followed by a universal two-child policy (2015), replacing the former one-child policy mandated by the government. The changes affect many aspects of China's population as well as maternal and infant health, but their potential impact on birth defects (BDs) remains unknown. In this study, we investigated the associations of these policy changes with BDs in Zhejiang Province, China. METHODS AND FINDINGS: We used data from the BD surveillance system in Zhejiang Province, China, which covers 90 hospitals in 30 urban districts and rural counties, capturing one-third of the total births in this province. To fully consider the time interval between conception and delivery, we defined the one-child policy period as data from 2013 (births from October 2012 to September 2013), the partial two-child policy period as data from 2015 (births from October 2014 to September 2015), and the universal two-child policy period as data from 2017 (births from October 2016 to September 2017). Data from 2009 and 2011 were also used to show the changes in the proportion of births to women with advanced maternal age (35 years and older) prior to the policy changes. Main outcome measures were changes in the proportion of mothers with advanced maternal age, prevalence of BDs, rankings of BD subtypes by prevalence, prenatal diagnosis rate, and live birth rate of BDs over time. A total of 1,260,684 births (including live births, early fetal losses, stillbirths, and early neonatal deaths) were included in the analyses. Of these, 644,973 (51.16%) births were to women from urban areas, and 615,711 (48.84%) births were to women from rural areas. In total, 135,543 (10.75%) births were to women with advanced maternal age. The proportion increased by 85.68%, from 8.52% in 2013 to 15.82% in 2017. However, it had remained stable prior to policy changes. Overall, 23,095 BDs were identified over the policy changes (2013-2017). The prevalence of BDs during 2013, 2015, and 2017 was 245.95, 264.86, and 304.36 per 10,000 births, respectively. Trisomy 21 and other chromosomal defects increased in both risk and ranking from 2013 to 2017 (crude odds ratio [95% confidence interval] 2.13 [1.75-2.60], from ranking 10th to 5th, and 3.63 [2.84-4.69], from ranking 16th to 6th, respectively). The prenatal diagnosis rate increased by 3.63 (2.2-5.1) percentage points (P < 0.001), from 31.10% to 34.72%, and identification of BDs occurred 1.88 (1.81-1.95) weeks earlier (P < 0.001). The live birth rate for infants with BDs born before 28 gestational weeks increased from 1.29% to 11.45%. The major limitations of this observational study include an inability to establish causality and the possible existence of unknown confounding factors, some of which could contribute to BDs. CONCLUSIONS: In this study, we observed significant increases in maternal age and the prevalence of total and age-related anomalies following China's new two-child policy. Increases in live birth rate for infants with BDs born before 28 gestational weeks suggest that healthcare for very preterm births with BDs may be warranted in the future, as well as updating the definition of perinatal period.


Assuntos
Anormalidades Congênitas/epidemiologia , Política de Planejamento Familiar , Idade Materna , Adulto , China/epidemiologia , Transtornos Cromossômicos/epidemiologia , Anormalidades Congênitas/diagnóstico , Síndrome de Down/epidemiologia , Feminino , Humanos , Lactente Extremamente Prematuro , Nascimento Vivo/epidemiologia , Gravidez , Diagnóstico Pré-Natal/tendências , Prevalência
20.
Ann Ital Chir ; 92020 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-32078581

RESUMO

Appendix vermiformis agenesis is quite rare. It is seen in 1/100,000 of patients who underwent laparotomy with an initial diagnosis of appendicitis. A 72-year-old woman who had not undergone any previous surgery was operated on for mechanical intestinal obstruction. Right hemicolectomy was performed due to obstructive tumoral mass in the hepatic flexure. There was no appendix vermiformis in exploration. Before deciding on the diagnosis of appendix agenesis, a thorough and rigorous exploration should be performed in ileocecal region and ascending colon. In our case, the diagnosis of appendix agenesis was incidental. However, it should be kept in mind that appendix agenesis may be present in patients undergoing surgery with the diagnosis of acute appendicitis. KEY WORDS: Appendicular agenesis, Colorectal carsinoma, Congenital Abnormalities.


Assuntos
Apêndice/anormalidades , Neoplasias do Colo/complicações , Idoso , Neoplasias do Colo/cirurgia , Anormalidades Congênitas/diagnóstico , Feminino , Humanos , Achados Incidentais
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