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1.
Pan Afr Med J ; 38: 1, 2021.
Artigo em Francês | MEDLINE | ID: mdl-33520070

RESUMO

Congenital upper airway obstruction syndrome is a rare malformation that can be fatal to a newborn baby. It is defined as a complete or almost complete obstruction of the upper airways. CHAOS rate is unknown. We here report the case of a 24-year-old primiparous patient with no medical or surgical history. First-trimester ultrasound didn't show any abnormality. During the second trimester, ultrasonography showed extensive subcutaneous edema, hypertrophied lung with hyperechoic appearance, hypoplastic heart and large-volume ascites associated with severe oligoamnios. After having excluded the most common causes, including isoimmunization (indirect negative Coombs), infections (negative serologies) kariotiping was not performed because the patient refused it. The results of ultrasonography suggested fetal hydrops secondary to CHAOS syndrome, because of pathognomonic signs of pulmonary hypertrophy with inverted or convex diaphragm. MRI was requested; it suggested CHAOS syndrome associated with other malformations: laryngeal atresia, microphthalmia with hypertelorism and deviation of the nasal septum with lack of visualization of the thymic tissue, no clear identification of the bladder, absence of right kidney and hypoplastic left kidney. The outcome of pregnancy was marked by premature labour at the 24th week of amenorrhea. The baby had a birth weight of 1475g, polimalformations such as sexual ambiguity, distended abdomen and polydactyly . The newborn died 3 min after birth. Karyotyping was performed which showed 46XX.


Assuntos
Obstrução das Vias Respiratórias/diagnóstico por imagem , Anormalidades Congênitas/diagnóstico por imagem , Hidropisia Fetal/diagnóstico por imagem , Obstrução das Vias Respiratórias/complicações , Obstrução das Vias Respiratórias/congênito , Anormalidades Congênitas/fisiopatologia , Evolução Fatal , Feminino , Humanos , Hidropisia Fetal/etiologia , Recém-Nascido , Cariotipagem , Gravidez , Resultado da Gravidez , Síndrome , Ultrassonografia Pré-Natal , Adulto Jovem
2.
Ann Otol Rhinol Laryngol ; 129(12): 1221-1228, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32500728

RESUMO

OBJECTIVE: To evaluate the long-term safety and efficacy of the Clip coupler attached to the stapes head in patients with unilateral congenital aural atresia (CAA). METHODS: This single-center retrospective study included 16 Mandarin-speaking patients who had unilateral microtia accompanied by CAA. All patients were divided into two groups: the short-term follow-up group (n = 9) and the long-term follow-up group (n = 7). The floating mass transducer of the Vibrant Soundbridge (VSB) was positioned in the stapes head by the Clip coupler. The safety of the VSB was investigated by comparing preoperative and postoperative bone-conduction (BC) thresholds as well as by complications. The effectiveness was evaluated by functional gain (FG), word recognition score (WRS), speech reception threshold (SRT) and signal-to-noise ratio (SNR). RESULTS: Pre- and post-operative BC thresholds were no different in all patients. And no complications developed. VSB-aided thresholds in the free-field had improved significantly in both short- and long-term follow-up groups. The improvements of WRS were observed in two groups. The monosyllabic VSB-aided WRS in the long-term follow-up group was significantly higher than that in the short-term follow-up group. When speech was from the impaired ear and noise presented to the side of normal ear (SVSBNCL), lower SNRs were found in two groups after VSB implantation. However, there was no statistical difference in aided SNR between the two groups at SVSBNCL status. CONCLUSIONS: Our results show that the FMT connected to the stapes head is a secure and useful device for patients with unilateral CHL/MHL, not only in terms of improved hearing thresholds, but also improved speech intelligibility in quiet and noisy environments.


Assuntos
Condução Óssea , Anormalidades Congênitas/cirurgia , Orelha/anormalidades , Perda Auditiva Condutiva/cirurgia , Perda Auditiva Condutiva-Neurossensorial Mista/cirurgia , Substituição Ossicular/métodos , Cirurgia do Estribo/métodos , Transdutores , Adolescente , Adulto , Audiometria de Tons Puros , Limiar Auditivo , Criança , Anormalidades Congênitas/fisiopatologia , Microtia Congênita/complicações , Orelha/fisiopatologia , Orelha/cirurgia , Feminino , Perda Auditiva Condutiva/etiologia , Perda Auditiva Condutiva/fisiopatologia , Perda Auditiva Condutiva-Neurossensorial Mista/etiologia , Perda Auditiva Condutiva-Neurossensorial Mista/fisiopatologia , Humanos , Masculino , Estudos Retrospectivos , Razão Sinal-Ruído , Teste do Limiar de Recepção da Fala , Resultado do Tratamento , Adulto Jovem
3.
Medicina (Kaunas) ; 56(3)2020 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-32143317

RESUMO

INTRODUCTION: Potter's syndrome, also known as Potter's sequence, is an uncommon and fatal disorder. Potter's sequence in a multiple pregnancy is uncommon, and its frequency remains unknown. Worldwide in a diamniotic twin pregnancy, there are only a few cases described. CASE REPORT: We present an unusual case discordance for Potter's syndrome in a dichorionic diamniotic twin pregnancy. Twin A had the typical physical and histological Potter's findings. Twin B had normal respiratory function and normal physical examination findings. There are many controversies about this condition in diamniotic twin pregnancy. One case report concluded that that the presence of a normal co-twin in diamniotic pregnancy prevented the cutaneous features seen in Potter's syndrome and ameliorated the pulmonary complications, whereas two other case studies reported that the affected twin had extrarenal features typical of the syndrome. CONCLUSION: We performed an autopsy and calculated lung weight/body weight ratio to diagnose pulmonary hypoplasia. Histopathologic examination of lungs and kidneys was performed. We concluded that the appearance of extrarenal features in the affected twin depends on the amniocity.


Assuntos
Anormalidades Congênitas/patologia , Anormalidades Congênitas/fisiopatologia , Nefropatias/congênito , Rim/anormalidades , Gravidez de Gêmeos , Autopsia , Cardiotocografia , Evolução Fatal , Feminino , Sofrimento Fetal , Humanos , Recém-Nascido , Rim/patologia , Rim/fisiopatologia , Nefropatias/patologia , Nefropatias/fisiopatologia , Pulmão/anormalidades , Pulmão/patologia , Gravidez , Adulto Jovem
4.
J Hum Genet ; 65(3): 221-230, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31827250

RESUMO

Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. Many monogenic and polygenic CS genes remain to be elucidated. In this study, we analyzed exome sequencing (ES) data of 615 Chinese CS from the Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) project. Cosegregation studies for 103 familial CS identified a novel heterozygous nonsense variant, c.2649G>A (p.Trp883Ter) in FBN1. The association between FBN1 and CS was then analyzed by extracting FBN1 variants from ES data of 574 sporadic CS and 828 controls; 30 novel variants were identified and prioritized for further analyses. A mutational burden test showed that the deleterious FBN1 variants were significantly enriched in CS subjects (OR = 3.9, P = 0.03 by Fisher's exact test). One missense variant, c.2613A>C (p.Leu871Phe) was recurrent in two unrelated CS subjects, and in vitro functional experiments for the variant suggest that FBN1 may contribute to CS by upregulating the transforming growth factor beta (TGF-ß) signaling. Our study expanded the phenotypic spectrum of FBN1, and provided nove insights into the genetic etiology of CS.


Assuntos
Anormalidades Congênitas/genética , Fibrilina-1/genética , Predisposição Genética para Doença , Escoliose/genética , Criança , Pré-Escolar , Códon sem Sentido/genética , Anormalidades Congênitas/diagnóstico por imagem , Anormalidades Congênitas/fisiopatologia , Exoma/genética , Feminino , Estudos de Associação Genética , Humanos , Lactente , Masculino , Mutação , Mutação de Sentido Incorreto/genética , Linhagem , Escoliose/diagnóstico por imagem , Escoliose/fisiopatologia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/fisiopatologia , Fator de Crescimento Transformador beta/genética
5.
Pan Afr Med J ; 37: 187, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33447342

RESUMO

Introduction: major external structural birth defects are typical and have been associated with childhood morbidity, mortality and lifelong resource-intensive disabilities. These defects continue to occur; however, they are yet to be recognized as public health problems in Kenya. The objective of this study was to estimate the prevalence of major external structural birth defects in Kiambu County in Kenya, 2014-2018. Methods: a cross-sectional study design was adopted; a retrospective review of medical records was conducted between 2014 and 2018 abstracting 873 birth defects. Following a predetermined inclusion criterion, a five-year prevalence numerator of 362 cases was determined, whereas, a five-year prevalence denominator of 299,854 cases of registered live-births was obtained from the birth registrar. Annual prevalence estimates of 29 sub-groups and 6 groups of these defects were calculated as the number of cases (numerator) divided by the number of live-births (denominator). Associated 95% binomial exact confidence intervals were also computed and expressed per 100,000 live-births. Results: defects of the musculoskeletal system, the central nervous system, orofacial, genital organs, eye and anus were observed. Defects of the musculoskeletal system were the most prevalent, ranging from 22.98 (95% CI: 11.87-40.13) to 116.9 (95% CI: 92.98-145.08) per 100,000 live-births. Defects of the central nervous system followed ranging between 13.40 (95% CI: 5.39-27.61) and 32.79 (95% CI: 20.79-49.19) per 100,000 live-births. Conclusion: despite musculoskeletal system defects being the most common group, hypospadias; a defect of the male genital organ was the most prevalent among the sub-group of these defects.


Assuntos
Anormalidades Congênitas/epidemiologia , Hipospadia/epidemiologia , Anormalidades Congênitas/fisiopatologia , Estudos Transversais , Feminino , Humanos , Recém-Nascido , Quênia , Nascimento Vivo , Masculino , Gravidez , Prevalência , Estudos Retrospectivos
6.
BMC Endocr Disord ; 19(1): 120, 2019 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-31711495

RESUMO

BACKGROUND: Agenesis of the dorsal pancreas (ADP) is clinically rare, and it is usually accompanied by abdominal pain. Various disorders of glucose metabolism associating with ADP have been reported, but there are only two studies reporting a correlation between ADP and DKA in English literature. CASE PRESENTATION: We present a case of a patient with ADP accompanied by abdominal pain and diabetic ketoacidosis as the initial clinical presentation. A 30-year-old man presented with a 3-month history of recurrent onset of persistent mild epigastric pain, which worsen when eating. Laboratory tests revealed metabolic acidosis, hyperglycemia, and ketonuria. Phase contrast CT and MRCP showed the absence of the body and tail of the pancreas, as well as the dorsal pancreatic duct. The C-peptide release test indicated ß-cell dysfunction. A combination therapy of insulin, pancreatic enzyme supplements, and mosapride citrate were administrated and the pain gradually resolved. CONCLUSIONS: As glucose metabolism disorders can vary across different individuals, we advise clinicians to consider the diagnosis of ADP for a patient who presents with a glucose metabolism disorder accompanied by abdominal pain, pancreatitis or steatorrhea.


Assuntos
Anormalidades Congênitas/diagnóstico , Cetoacidose Diabética/diagnóstico , Pâncreas/anormalidades , Adulto , Anormalidades Congênitas/tratamento farmacológico , Anormalidades Congênitas/fisiopatologia , Cetoacidose Diabética/complicações , Cetoacidose Diabética/tratamento farmacológico , Humanos , Masculino , Pâncreas/fisiopatologia , Prognóstico
8.
PLoS One ; 14(8): e0221489, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31449540

RESUMO

OBJECTIVE: To test the reliability of the Balance Evaluation Systems Test (BESTest) and Trunk Control Measurement Scale (TCMS) between sessions and raters in the adult spinal deformity (ASD) population. SUMMARY OF BACKGROUND DATA: Up to now evaluation in ASD was mainly based on static radiographic parameters. Recently literature showed that dynamic balance was a better predictor of health-related quality of life than radiographic parameters, stressing the importance of balance assessment. However, to the best of our knowledge, reliability of balance assessment tools has not yet been investigated in the ASD population. METHODS: Twenty ASD patients participated in this study. Ten patients were included in the test-retest study, including repeated measurements. Ten patients were measured once, simultaneously but independently by three raters. Each participant performed two balance scales, namely the BESTest and the TCMS. Statistical analysis consisted of intra class correlations (ICC) on scale- and subscale level, and kappa scores on item-level. Cronbach's alpha on total scores, standard errors of measurement (SEM), smallest detectable differences and percentages of agreement were also calculated. Bland-altman plots were created to investigate systematic bias. RESULTS: ICC scores between sessions and raters for TCMS (0.76 and 0.88) and BESTest (0.90 and 0.94) total scores were good to excellent. SEM's between sessions and raters were also low for total scores on TCMS (1.66 and 2.35) and BESTest (2.99 and 2.32). However, on subscale- and item-level reliability decreased and ceiling effects were observed. No systematic bias was observed between sessions and raters. CONCLUSION: BESTest and TCMS showed to be reliable tools to measure balance in ASD on scale-level. However, on subscale- and item-level reliability decreased and ceiling effects were observed. Therefore, the question arises if there is need for an ASD-specific balance scale.


Assuntos
Anormalidades Congênitas/fisiopatologia , Coluna Vertebral/anormalidades , Coluna Vertebral/fisiopatologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Equilíbrio Postural , Reprodutibilidade dos Testes , Escala Visual Analógica
9.
Hum Reprod ; 34(9): 1661-1673, 2019 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-31418785

RESUMO

STUDY QUESTION: Do sexual functioning, sexual esteem, genital self-image and psychological and relational functioning in women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome differ from a comparison group of women without the condition? SUMMARY ANSWER: In comparison to controls, women with MRKH with a non-surgically or surgically created neovagina did not differ in psychological and relational functioning but reported lower sexual esteem and more negative genital self-image, intercourse-related pain, clinically relevant sexual distress and sexual dysfunction, with sexual esteem levels strongly associated with sexual distress and sexual dysfunction. WHAT IS KNOWN ALREADY: Studies on sexual functioning measured with standardized questionnaires in women with MRKH syndrome compared with women without the condition have yielded contradictory results. Factors associated with sexual functioning in this patient population have rarely been investigated. STUDY DESIGN, SIZE, DURATION: Between November 2015 and May 2017, 54 women with MRKH syndrome with a neovagina and 79 age-matched healthy women without the condition were enrolled in this case-control study. PARTICIPANTS/MATERIALS, SETTING, METHODS: All participants had to be at least 18-years old and had to live in a steady heterosexual relationship. Women with MRKH syndrome were asked to participate by their (former) gynecologists at three university hospitals and by MRKH peer support group. Controls were recruited via advertisement in local newspapers and social media. Standardized questionnaires were administered to assess sexual functioning, sexual esteem, genital self-image and psychological and relational functioning. MAIN RESULTS AND THE ROLE OF CHANCE: Women with MRKH syndrome with a surgically or non-surgically created neovagina reported significantly more pain during intercourse (P < 0.05, d = 0.5), but did not differ in overall sexual functioning from control women. More women with MRKH syndrome reported clinically relevant sexuality-related distress (P < 0.05, odds ratio (OR): 2.756, 95% CI 1.219-6.232) and suffered a sexual dysfunction (P < 0.05, OR: 2.654, 95% CI: 1.088-6.471) in comparison with controls. MRKH women scored significantly lower on the sexual esteem scale (SES) (P < 0.01, d = 0.5) and the female genital self-image scale (FGSIS) (P < 0.01, d = 0.6) than controls. No significant differences were found between the two groups regarding psychological distress, anxiety and depression, global self-esteem and relational dissatisfaction. Sexual esteem was significantly associated with the presence of clinically relevant sexual distress (ß = 0.455, P = 0.001) and suffering a sexual dysfunction (ß = 0.554, P = 0.001) and explained, respectively, 40% and 28% of the variance. LIMITATIONS, REASONS FOR CAUTION: Given the nature of the study focusing on sexual functioning, a potential selection bias cannot be excluded. It is possible that those women with the most severe sexual and/or psychological disturbances did or did not choose to participate in our study. WIDER IMPLICATIONS OF THE FINDINGS: The study results add new data to the very limited knowledge about psychosexual functioning of women with MRKH syndrome and are of importance for more adequate counseling and treatment of these women. STUDY FUNDING/COMPETING INTEREST(S): The research was financially supported by the Dutch Scientific Society of Sexology (Nederlandse wetenschappelijke Vereniging Voor Seksuologie). The funding was unrestricted, and there was no involvement in the conduct of the research. There are no conflicts of interest to declare.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/psicologia , Imagem Corporal/psicologia , Coito , Anormalidades Congênitas/psicologia , Relações Interpessoais , Ductos Paramesonéfricos/anormalidades , Autoimagem , Disfunções Sexuais Fisiológicas/psicologia , Sexualidade/psicologia , Transtornos 46, XX do Desenvolvimento Sexual/fisiopatologia , Adulto , Ansiedade , Estudos de Casos e Controles , Anormalidades Congênitas/fisiopatologia , Depressão , Dispareunia , Feminino , Humanos , Pessoa de Meia-Idade , Ductos Paramesonéfricos/fisiopatologia , Países Baixos , Inquéritos e Questionários , Vagina/fisiopatologia
10.
Am J Med Genet A ; 179(9): 1799-1814, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31294918

RESUMO

Sacral agenesis is a rare birth defect characterized by partial or complete absence of the sacrum. We sought to (a) describe case characteristics, (b) estimate birth prevalence, and (c) identify risk factors for nonsyndromic sacral agenesis using data from the National Birth Defects Prevention Study (NBDPS). The NBDPS was a population-based, case-control study involving pregnancies with estimated dates of delivery from October 1997 through December 2011. We estimated birth prevalence using all NBDPS eligible cases. Using self-reported maternal exposure information, we conducted multivariable logistic regression analysis to identify potential risk factors overall and among women without diabetes. The birth prevalence of sacral agenesis was 2.6/100,000 live births. In the multivariable analysis, multifetal pregnancy, pre-existing Type 1 diabetes, and pre-existing Type 2 diabetes were positively and significantly associated with sacral agenesis, albeit estimates were imprecise. Preexisting Type 1 diabetes was the strongest risk factor (adjusted odds ratio = 96.6, 95% confidence interval = 43.5-214.7). Among women without diabetes, periconceptional smoking was positively and significantly associated with sacral agenesis. Our findings underscore the importance of smoking cessation programs among women planning pregnancy and the importance of better understanding the role of glycemic control before and during pregnancy when designing interventions for primary prevention of sacral agenesis.


Assuntos
Anormalidades Múltiplas/epidemiologia , Anormalidades Congênitas/epidemiologia , Diabetes Mellitus/epidemiologia , Meningocele/epidemiologia , Malformações do Sistema Nervoso/epidemiologia , Região Sacrococcígea/anormalidades , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Adulto , Estudos de Casos e Controles , Anormalidades Congênitas/genética , Anormalidades Congênitas/fisiopatologia , Complicações do Diabetes/epidemiologia , Complicações do Diabetes/genética , Complicações do Diabetes/fisiopatologia , Diabetes Mellitus/genética , Diabetes Mellitus/fisiopatologia , Feminino , Humanos , Recém-Nascido , Masculino , Exposição Materna , Meningocele/etiologia , Meningocele/genética , Meningocele/fisiopatologia , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/fisiopatologia , População/genética , Gravidez , Fatores de Risco , Região Sacrococcígea/fisiopatologia , Sacro/anormalidades
11.
BJOG ; 126(11): 1328-1335, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31338951

RESUMO

Congenital uterovaginal aplasia commonly occurs in Mayer-Rokitansky-Küster-Hauser syndrome. Various methods of neovagina creation exist, including nonsurgical self-dilation, surgical dilation, and surgical procedures involving skin or intestinal transplants. Subsequent uterus transplantation is necessary to enable pregnancy. We review the main characteristics, advantages, and disadvantages of established neovagina creation methods and discuss their suitability regarding subsequent uterus transplantation. Suitability criteria include sufficient vaginal length, absence of previous major intra-abdominal surgery, a natural vaginal axis, and a natural vaginal epithelium. In conclusion, Vecchietti-based laparoscopically assisted neovagina creation provides ideal functional conditions for uterus transplantation. Nonsurgical self-dilation and Wharton-Sheares-George vaginoplasty may also be suitable. TWEETABLE ABSTRACT: This review discusses the main advantages and disadvantages of neovagina creation methods with regard to subsequent uterus transplantation.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Anormalidades Congênitas/cirurgia , Procedimentos Cirúrgicos em Ginecologia/métodos , Ductos Paramesonéfricos/anormalidades , Cuidados Pré-Operatórios/métodos , Transplantes , Útero/transplante , Transtornos 46, XX do Desenvolvimento Sexual/fisiopatologia , Anormalidades Congênitas/fisiopatologia , Feminino , Humanos , Ductos Paramesonéfricos/fisiopatologia , Ductos Paramesonéfricos/cirurgia , Seleção de Pacientes , Estruturas Criadas Cirurgicamente , Resultado do Tratamento , Vagina/cirurgia
12.
Brain Res Bull ; 150: 328-342, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31207281

RESUMO

Early studies of behavioral teratology were mostly descriptive, fulfilling the necessary first requirement in a new field. The next obvious stage was put forward in the 80's as mechanism driven science enabled reversal of the teratogens-induced deficits. Three decades later a plethora of studies have been published demonstrating the success of the new direction. Complete and long-term (ostensibly permanent) reversal has been demonstrated in numerous animal models representing the realization of the ultimate goal of the field. Perhaps less sought after, but still significant, are the studies on recovery which needs consistent treatment for its persistence The studies reviewed here have been summarized in Tables 1 and 2. Clinically, the field is only in its incipient stage because of the paucity in translational findings for complete reversal or even complete alleviation. Human findings are emerging but in partial alleviation, noteworthy were the demonstration of FASD children who showed improvement after choline treatment while others showed no effect. Consequently, while further studies in an animal model on the mechanism by which the teratogen exerts its deleterious effects and the reversal procedure action are important, the main thrust of the research should now be translation of the animal model findings into a standard clinical routine. Indeed, first steps towards these goals are being made in children with various neurodevelopmental disorders via the application of a variety of rehabilitation programs by physiotherapists, occupational therapists and speech and language therapists, but the results are partial and may not be long-lasting.


Assuntos
Doenças do Sistema Nervoso/terapia , Teratologia/métodos , Teratologia/tendências , Animais , Comportamento Animal/efeitos dos fármacos , Anormalidades Congênitas/fisiopatologia , Modelos Animais de Doenças , Feminino , Humanos , Doenças do Sistema Nervoso/fisiopatologia , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Teratogênios
13.
Otol Neurotol ; 40(6): 782-788, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31135676

RESUMO

OBJECTIVE: To assess the association of middle ear volume with long-term hearing outcomes in congenital aural atresia (CAA) repair. STUDY DESIGN: Retrospective chart and radiological review. SETTING: Single academic tertiary referral center. PATIENTS: Children and adults who underwent CAA repair between 1995 and 2016. Patients were divided into "best" and "worst" audiometric groups, based on stability of postoperative air conduction pure-tone average (AC PTA) results. Ten patients were included for study in the "best" group, and 12 in the "worst" group. INTERVENTION(S): CAA repair. MAIN OUTCOME MEASURE(S): Long-term (> 1 yr) postoperative three-tone (500, 1000, 2000 Hz) AC PTA, speech reception threshold (SRT), air bone gap, and semiautomated calculated middle ear volume from preoperative computed tomography (CT) scans. RESULTS: Statistically significant differences were noted between "best" and "worst" groups in AC PTA, SRT, and air bone gap (p < 0.001). Mean middle ear volume in the "best" group was 434.6 mm (range 326.3-602.1 mm) and 339.5 mm (range 199.4-502.1 mm) in the "worst" group (p = 0.02). The majority in both groups were right ears (p = 0.38), and males outnumbered females in the "best" group (9 out of 10; p = 0.018). Preoperative Jahrsdoerfer grading scores were similar between groups (p = 0.31). Mean follow-up for the "best" and "worst" groups was approximately 3.5 and 4.5 yr, respectively. CONCLUSIONS: For patients undergoing CAA repair, larger middle ear volume is associated with stable and better long-term audiometric outcomes.


Assuntos
Anormalidades Congênitas/cirurgia , Orelha Média/cirurgia , Orelha/anormalidades , Audição/fisiologia , Tomografia Computadorizada por Raios X , Adolescente , Criança , Anormalidades Congênitas/diagnóstico por imagem , Anormalidades Congênitas/fisiopatologia , Orelha/diagnóstico por imagem , Orelha/fisiopatologia , Orelha/cirurgia , Orelha Média/diagnóstico por imagem , Orelha Média/fisiopatologia , Feminino , Testes Auditivos , Humanos , Masculino , Período Pós-Operatório , Estudos Retrospectivos , Resultado do Tratamento
14.
Biomed Res Int ; 2019: 2360185, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30931323

RESUMO

Hypothesis/Aims of Study: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second most common cause of primary amenorrhea. The ESHRE/ESGE categorizes this disorder within the class 5 uterine malformation of the female genital tract anomalies. It is characterized by congenital absence of the uterus, cervix, and upper part of the vagina in otherwise phenotypically normal 46XX females. These patients have normal ovaries, biphasic ovarian cycle, and female psychosexual identification. Laparoscopic Vecchietti's operation-surgical method in which the vagina increases in size by gradually applying traction to the vaginal vault-is one of the methods used to treat MRKH. The aim of this study was to establish the urogynecological and sexual functions after Vecchietti's operation. Study Design Materials and Methods: Fifteen patients with MRKHS who underwent laparoscopic Vecchietti's operation were included. A control group of 15 age-matched, childless, sexually active women were examined during the same period. All patients underwent the basic evaluation of anatomical outcomes. Sexual outcomes were established by the Polish validated Female Sexual Function Index (FSFI) questionnaire. Continence status was assessed by Polish validated Urinary Distress Inventory (UDI-6) and the Incontinence Impact Questionnaire (IIQ-7). Results: Mean age of MRKH group was 22.06±5.13 yrs. Mean follow-up after surgery was 8.02±3.43 yrs. Mean age of women from control group was 22.4±4.35. Mean FSFI scores show good quality of sexual life in both groups. UDI-6 scores showed that patients after Vecchietti surgery have urogynecological problems significantly more often than healthy women do. Based on the IIQ-7, it is evident that one patient from the MRKH group (6,6%) suffers from stress urinary incontinence and the rest (20%) have rather irritative problems with the functioning of the lower urinary tract. Conclusion: Quality of sexual life after the Vecchietti's operation in long-term follow-up does not differ from that of healthy women, but these patients suffer more frequent from urogynecological complaints. The trial is registered with NCT03809819.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Amenorreia/fisiopatologia , Anormalidades Congênitas/fisiopatologia , Laparoscopia/efeitos adversos , Ductos Paramesonéfricos/anormalidades , Vagina/cirurgia , Transtornos 46, XX do Desenvolvimento Sexual/complicações , Transtornos 46, XX do Desenvolvimento Sexual/fisiopatologia , Adolescente , Adulto , Amenorreia/etiologia , Colo do Útero/fisiopatologia , Colo do Útero/cirurgia , Anormalidades Congênitas/etiologia , Anormalidades Congênitas/cirurgia , Feminino , Humanos , Ductos Paramesonéfricos/fisiopatologia , Ductos Paramesonéfricos/cirurgia , Polônia , Comportamento Sexual , Saúde Sexual , Inquéritos e Questionários , Útero/fisiopatologia , Útero/cirurgia , Vagina/fisiopatologia , Saúde da Mulher , Adulto Jovem
16.
Mil Med Res ; 6(1): 4, 2019 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-30760330

RESUMO

BACKGROUND: Zinner syndrome represents a rare congenital malformation of the urinary tract. It comprises a constellation of Wolffian duct anomalies and is almost exclusively encountered as a classic triad of seminal vesicle cysts, ejaculatory duct obstruction and renal agenesis. Patients can be either asymptomatic or symptomatic. Recently, minimally invasive surgical techniques have emerged, superseding traditional surgery for select symptomatic cases. Our case highlights the finding of a rare clinical syndrome that was incidentally detected during a routine mass screening of military recruits in the Greek Armed Forces. CASE PRESENTATION: Herein, we present a case of a 19-year-old male who reported having a solitary right kidney when examined in a military training center of Northern Greece. No additional clinical information was available; thus, referral to a tertiary urology department for further investigation ensued. Imaging studies, namely, computed tomography and magnetic resonance imaging, revealed left renal aplasia, multiple left seminal vesicle cysts, and ejaculatory duct obstruction. Laboratory values and urinalysis were within normal range. Semen analysis was significant for cryptozoospermia. Our patient remained asymptomatic during the entire hospitalization. Long-term follow-up was recommended. Nevertheless, he declined further investigation and sought treatment in a private practice setting. CONCLUSIONS: This article aims to present the incidental diagnosis of a rare syndrome in a military setting. Population screening conducted in the armed forces permits the identification of undiagnosed diseases that warrant further investigation. To the best of our knowledge, this was the first report of Zinner syndrome in a military recruit and the second case cited of a Greek patient in the published literature. Regular follow-up is the key to timely intervention in conservatively managed cases.


Assuntos
Militares , Glândulas Seminais/anormalidades , Anormalidades Urogenitais/complicações , Anormalidades Congênitas/genética , Anormalidades Congênitas/fisiopatologia , Grécia , Humanos , Achados Incidentais , Rim/anormalidades , Rim/fisiopatologia , Masculino , Análise do Sêmen , Rim Único/complicações , Rim Único/fisiopatologia , Tomografia Computadorizada por Raios X/métodos , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/etiologia , Anormalidades Urogenitais/genética , Anormalidades Urogenitais/fisiopatologia , Adulto Jovem
17.
Int J Pediatr Otorhinolaryngol ; 119: 54-58, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30665177

RESUMO

OBJECTIVES: The objective of this study is to evaluate the safety and efficacy of the transcutaneous Bone Conduction Implant, the Bonebridge, in patients with congenital aural atresia. METHODS: Audiometry, speech recognition test and free field audiometry were performed. Word recognition scores and speech perception was evaluated using Spanish phonetically-balanced disyllables word list. RESULTS: Fourteen subjects were implanted with the Bonebridge (seven bilateral placements). The study cohort comprised seven males and seven females aged from 3 to 17 years (mean age 9.76yrs). All patients accepted and benefited from the implanted Bonebridge system. The pre-operative PTA4 was 66.4 dB (64.2-68.6, 95-%CI) and improved after activation to 19.2 dB (16.9-21.5, 95%CI), resulting in a mean functional gain of 47,2 dB. Regarding speech discrimination, the pre-operative outcomes of the disyllabic measurements were 34.3% and for monosyllables 27.4%. Following activation the speech discrimination improved to 98.6% and 97.9%, respectively. No infections or adverse device related effects occurred in patient group. CONCLUSION: We have concluded that the Bonebridge implant is an innovative solution for patients with conductive or mixed hearing loss and unilateral loss suffering from congenital atresia. Different surgical techniques may be used for implant placement, based on the patient's anatomy. Studies show improved functional gain, better speech perception, and lower rates of percutaneous complications associated with this implant.


Assuntos
Condução Óssea , Anormalidades Congênitas/fisiopatologia , Anormalidades Congênitas/cirurgia , Orelha/anormalidades , Perda Auditiva Condutiva/cirurgia , Próteses e Implantes , Adolescente , Audiometria , Criança , Pré-Escolar , Orelha/fisiopatologia , Orelha/cirurgia , Feminino , Perda Auditiva Condutiva/etiologia , Humanos , Masculino , Percepção da Fala , Resultado do Tratamento
18.
J Voice ; 33(4): 561-563, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30224307

RESUMO

OBJECTIVES: Vocal nodules are frequent in children and tend to be reabsorbed after puberty, especially in boys. The aims of the present study were to analyze the progression of nodules in boys after puberty and to investigate the role of microweb in the persistence of these lesions. METHODS: Clinical and videolaryngoscopy evaluations were carried out in boys with vocal nodules treated between 2009 and 2016, followed up to the age of 17 years or until remission of symptoms and reabsorption of the nodules. Boys with vocal nodules who underwent regular vocal therapy are included in the study. The outcomes were remission of symptoms and of the nodular lesions. RESULTS: A total of 34 boys with vocal nodules were diagnosed, of which 21 completed follow-up. Mean age of the first evaluation was 9 years (5-11 years) and of end of treatment was 14 years (13-18 years). Mean number of videolaryngoscopy per child was five. After adolescence there was complete remission of symptoms and of the lesions in 15 children (71.4%), partial remission in four (19.0%), and no remission of symptoms and of the lesions in two cases. In these two, videolaryngoscopy identified the presence of microweb and nodules. CONCLUSIONS: Favorable reabsorption of the vocal nodules after adolescence was observed in the majority of the boys who underwent voice therapy; however, in two cases there was no remission of symptoms and of the lesions. The unfavorable course can be attributed to anterior laryngeal microwebs.


Assuntos
Anormalidades Congênitas/patologia , Doenças da Laringe/patologia , Laringe/anormalidades , Puberdade , Prega Vocal/patologia , Adolescente , Desenvolvimento do Adolescente , Fatores Etários , Criança , Desenvolvimento Infantil , Pré-Escolar , Anormalidades Congênitas/fisiopatologia , Anormalidades Congênitas/terapia , Humanos , Doenças da Laringe/fisiopatologia , Doenças da Laringe/terapia , Laringe/patologia , Laringe/fisiopatologia , Masculino , Indução de Remissão , Maturidade Sexual , Fatores de Tempo , Resultado do Tratamento , Prega Vocal/fisiopatologia , Qualidade da Voz , Treinamento da Voz
20.
Eur J Orthop Surg Traumatol ; 29(1): 37-45, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30105592

RESUMO

BACKGROUND: Sprengel's shoulder deformity is a rare condition that happens because of the abnormal termination of the caudal migration of the scapula during the embryonic period. METHODS: This retrospective clinical study included 10 consecutive children who underwent a Woodward operation to correct the Sprengel's shoulder deformity. RESULTS: The average preoperative Cavendish grade for cosmetic evaluation was 3.5 (range 3-4), which decreased to 1.4 (range 1-2) at the final review (statistically significant, p > 0.002, Wilcoxon signed-rank test). Cavendish grade improvement and increase in abduction had a strong positive association (r = 0.681, Spearman correlation coefficient. CONCLUSION: The results showed that both functional and cosmetic outcome had a positive correlation with Woodward procedure. More cosmetic and functional improvement was seen at the last follow-up visit especially in cases where the operation was done in the younger years. LEVEL OF EVIDENCE: IV.


Assuntos
Anormalidades Congênitas/fisiopatologia , Anormalidades Congênitas/cirurgia , Escápula/anormalidades , Articulação do Ombro/anormalidades , Articulação do Ombro/fisiopatologia , Pré-Escolar , Anormalidades Congênitas/reabilitação , Feminino , Humanos , Lactente , Masculino , Amplitude de Movimento Articular , Estudos Retrospectivos , Escápula/fisiopatologia , Escápula/cirurgia , Articulação do Ombro/cirurgia , Resultado do Tratamento
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