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1.
Rev. Odontol. Araçatuba (Impr.) ; 44(2): 30-37, maio-ago. 2023. ilus
Artigo em Português | LILACS, BBO - Odontologia | ID: biblio-1428047

RESUMO

Introdução: o odontoma é considerado como um frequente tumor odontogênico benigno, podendo ser classificado em tipo composto ou tipo complexo. O cisto dentígero é o mais comum entre os cistos odontogênicos de desenvolvimento, onde envolve a coroa da unidade dentária no nível da junção amelocementária. Há poucos estudos na literatura do encontro das duas lesões, acometendo o mesmo local na cavidade oral. O diagnóstico pode ser constituído por exame clínico e de imagem. Objetivo: apresentar um caso clínico de odontoma composto e cisto dentígero em região de parassínfise mandibular esquerda abordando as caraterísticas clínicas destas duas lesões e as adequadas formas de tratamento. Relato de caso: paciente do sexo masculino, 16 anos de idade, compareceu ao ambulatório do Centro Odontológico da Escola Bahiana de Medicina e Saúde Pública (Salvador, Bahia), portando encaminhamento de ortodontista, solicitando exodontia da unidade dentária 33 inclusa associada a um odontoma. Ao realizar exames físicos e imaginológicos detectou-se a hipótese diagnóstica de odontoma composto associado a unidade dentária, envolto em folículo pericoronário ou cisto dentígero. Foi realizada biópsia excisional das duas lesões e exodontia da unidade. A análise histopatológica confirmou o diagnóstico para odontoma composto associado a cisto dentígero na unidade 33. Ao acompanhamento de 03 meses, paciente apresentou neoformação óssea da região de parassínfise mandibular, mediante a análise de novos exames imaginológicos. Discussão: há poucos estudos na literatura da associação entre as duas lesões, porém relatos afirmam que o odontoma pode ser encontrado associado aos cistos odontogênicos. Por conta da falta de maiores estudos dessa associação, há escassez de recomendações terapêuticas de acordo com faixa etária e extensão do acometimento das lesões. Considerações finais: lesões comumente assintomáticas, tem o diagnóstico constituído por exame clínico e avaliação de exames de imagem(AU)


Introduction: odontoma is considered a frequent benign odontogenic tumor and can be classified as a compound or complex type. The dentigerous cyst is the most common among developmental odontogenic cysts, where it involves the crown of the dental unit at the level of the cementoenamel junction. There are few studies in the literature on the meeting of the two lesions, affecting the same site in the oral cavity. The diagnosis can be made by clinical and imaging examination. Objective: to present a clinical case of compound odontoma and dentigerous cyst in the left mandibular parasymphysis region, addressing the clinical characteristics of these two lesions and the appropriate forms of treatment. Case report: male patient, 16 years old, attended the outpatient clinic of the Centro Odontológico da Escola Bahiana de Medicina e Saúde Pública (Salvador, Bahia), having been referred by an orthodontist, requesting extraction of the included dental unit 33 associated with an odontoma. Upon physical and imaging examinations, the diagnostic hypothesis of a compound odontoma associated with a dental unit, surrounded by a pericoronal follicle or dentigerous cyst, was detected. Excisional biopsy of the two lesions and extraction of the unit were performed. The histopathological analysis confirmed the diagnosis of compound odontoma associated with dentigerous cyst in unit 33. At the 03-month follow-up, the patient presented bone neoformation in the mandibular parasymphysis region, through the analysis of new imaging exams. Discussion: there are few studies in the literature on the association between the two lesions, but reports state that odontoma can be found associated with odontogenic cysts. Due to the lack of further studies on this association, there is a lack of therapeutic recommendations according to age group and extent of lesion involvement. Final considerations: commonly asymptomatic lesions, the diagnosis consists of clinical examination and evaluation of imaging tests(AU)


Assuntos
Humanos , Masculino , Adolescente , Cisto Dentígero , Odontoma , Coroa do Dente , Anormalidades Dentárias , Cisto Dentígero/diagnóstico , Cisto Dentígero/terapia , Cistos Odontogênicos , Tumores Odontogênicos , Odontoma/diagnóstico , Odontoma/terapia , Coroa do Dente/anormalidades , Neoplasias
2.
J Sex Med ; 20(5): 699-703, 2023 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-37122108

RESUMO

BACKGROUND: For cases with severe penile curvature, the loss in length with shortening techniques or the loss in rigidity with incision grafting can compromise the results, hence the advent of Shaeer's corporal rotation III technique, which corrects the most severe degrees of ventral penile curvature without loss in length, though with a certain degree of narrowing. AIM: We sought to describe Shaeer's corporal rotation IV, aiming at correction of moderate-to-severe ventral penile curvature with minimal shortening, minimal narrowing, and minimal mobilization of the neurovascular bundle, among other improvements such as using thicker suture material to decease recurrence while inverting the surgical knots. METHODS: Forty-two patients with congenital ventral penile curvature were selected for the study with a curve ranging from 60° to 90°. Patients were randomized into 1 of the 2 groups: Shaeer's corporal rotation III (SCR-III) and SCR-IV. In SCR-IV, rotation is used to correct the main brunt of curvature, up to 70% to 80% of the curve. Plication is used to correct the residual curvature up to 100% straightness. This keeps the rotation points fewer and closer to the midline, thereby minimizing narrowing and mobilization of the neurovascular bundle. OUTCOMES: Both groups were compared with regard to intraoperative erection angle, length, and girth, before and after rotation, as well as subjectively reported postoperative recurrence, penile sensitivity, satisfaction, and IIEF. RESULTS: The postcorrection angle was zero for all cases in the 2 groups. Dorsal length decreased by 3% in the SCR-IV group compared with 0.5% in the SCR-III group (2.5% difference). The difference in circumference between the narrowest and widest points was 2% in the SCR-IV group vs 9.3% in the SCR-III group (7.3% difference). The average operative time was 19.2% shorter with SCR-IV. Girth asymmetry was reported in 1 (4.8%) of 21 patients in the SCR-IV group compared with 15 (71.4%) of 21 in the SCR-III group. Partial hyposensitivity of the penis was reported in 9.5% in the SCR-IV group compared with 19% in the SCR-III group. CLINICAL IMPLICATIONS: SCR-IV is an improvement over former versions of the technique, with higher patient satisfaction. STRENGTHS AND LIMITATIONS: A strength of the study is the long follow-up period. Limitations include being a single-center study and reliance on patient reporting to evaluate recurrence and satisfaction. CONCLUSION: The SCR-IV technique corrects moderate and severe degrees of congenital ventral penile curvature, with little or no compromise in penile length, girth, or sensitivity.


Assuntos
Induração Peniana , Pênis , Masculino , Humanos , Rotação , Pênis/cirurgia , Pênis/anormalidades , Ereção Peniana , Satisfação do Paciente , Período Pós-Operatório , Induração Peniana/cirurgia
3.
J Clin Pediatr Dent ; 47(3): 103-108, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37143428

RESUMO

Nablus mask-like facial syndrome (NMLFS) (OMIM: 608156) is an extremely rare genetic syndrome first reported by Ahmad Teebi in 2000. Although it is a rare condition, it is characterized by distinctive facial features such as, expressionless facial appearance, tight, glistening facial skin, low anterior hairline, sparse eyebrows, small palpebral fissures (blepharophimosis), hypertolerism, bulbous nose with prominent columella, abnormally short nose and flat nasal bridge, abnormal ear configuration, bilateral longitudinal cheek dimples, everted lower lip, long philtrum, and maxillary hypoplasia. In addition, a happy and friendly disposition is considered to be the common symptom of this syndrome. Previous studies revealing the intraoral findings of this rare symptom are inadequate and the present report is the first one that presents a dental case involving Nablus syndrome in detail. The aim of this report is to contribute to the current literature through our oral findings in an NMFLS patient, presented at our clinic with toothache and through our treatment approach.


Assuntos
Blefarofimose , Anormalidades Craniofaciais , Humanos , Blefarofimose/diagnóstico , Blefarofimose/genética , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Face/anormalidades , Assistência Odontológica
4.
Folia Med (Plovdiv) ; 65(2): 226-234, 2023 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-37144307

RESUMO

INTRODUCTION: Fusion, pelvic, and duplicated urinary tract anomalies of the kidney are rarely seen. There might be some difficulties in the stone treatment, in the administration of extracorporeal shockwave lithotripsy (ESWL), retrograde intrarenal surgery (RIRS), percutaneous nephrolithotomy (PCNL), and laparoscopic pyelolithotomy procedures in these patients due to the anatomical variations in kidneys with anomalies. AIM: To evaluate RIRS results on patients with upper urinary tract anomalies. MATERIALS AND METHODS: Data of 35 patients with horseshoe kidney, pelvic ectopic kidney, and double urinary system in two referral centers were reviewed retrospectively. Demographic data, stone characteristics, and postoperative characteristics of the patients were evaluated. RESULTS: The mean age of patients (n=35, 6 women and 29 men) was 50 years. Thirty-nine stones were detected. The total mean stone surface area in all anomaly groups was found to be 140 mm2, and the mean operative time was 54.7±24.7 minutes. The rate of using ureteral access sheath (UAS) was very low (5/35). Eight patients needed auxiliary treatment after the operation. The residual rate, which was 33.3% in the first 15 days, decreased to 22.6% in the third month follow-ups. Four patients had minor complications. In patients with horseshoe kidney and duplicated ureteral systems, it was observed that the risk factor increasing the presence of residual stones was the total stone volume. CONCLUSIONS: RIRS for kidneys with low and medium stone volume anomalies is an effective treatment method with high stone-free and low complication rates.


Assuntos
Rim Fundido , Cálculos Renais , Nefrolitotomia Percutânea , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Rim Fundido/cirurgia , Estudos Retrospectivos , Cálculos Renais/cirurgia , Rim/cirurgia , Rim/anormalidades , Resultado do Tratamento
5.
JNMA J Nepal Med Assoc ; 61(260): 375-378, 2023 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-37208890

RESUMO

 Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defects complex is a rare malformation complex that includes omphalocele, cloacal exstrophy, imperforate anus and spinal defects with the incidence of 1 in 200,000 to 400,000 pregnancies and is even rarer in twin gestation. The etiology of this complex is still unclear. Most cases are sporadic. Prenatal screening must be done for diagnosis and appropriate multidisciplinary management of cases. In severe cases, termination of pregnancy is considered. We present a 4-day first twin child with underdeveloped ambiguous genitalia delivered via emergency lower section cesarean section at 32+3 weeks of gestation with giant liver containing omphalocele, cloacal exstrophy, imperforate anus and meningocele with severe pulmonary artery hypertension and non-visualization of right kidney and ureter, absence of uterus, fallopian tubes and right ovary. Separation and repair of the cecum and bladder were done. The ladd procedure was performed. Ileostomy was created and single-stage repair of the abdominal wall was done. Keywords: anorectal malformations; bladder exstrophy; case reports; neural tube defects; umbilicus.


Assuntos
Anormalidades Múltiplas , Anus Imperfurado , Extrofia Vesical , Hérnia Umbilical , Criança , Animais , Humanos , Gravidez , Feminino , Anus Imperfurado/diagnóstico , Anus Imperfurado/cirurgia , Anus Imperfurado/complicações , Hérnia Umbilical/diagnóstico , Hérnia Umbilical/cirurgia , Hérnia Umbilical/complicações , Cloaca/cirurgia , Cloaca/anormalidades , Cesárea/efeitos adversos , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/cirurgia , Extrofia Vesical/diagnóstico , Extrofia Vesical/cirurgia , Extrofia Vesical/etiologia
6.
Orphanet J Rare Dis ; 18(1): 101, 2023 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-37131188

RESUMO

BACKGROUND: The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades. While regarded as a nosological entity by some authors, there is growing evidence that COMA designates merely a neurological symptom with etiologic heterogeneity. In 2016, we reported an observational study in a cohort of 21 patients diagnosed as having COMA. Thorough re-evaluation of the neuroimaging features of these 21 subjects revealed a previously not recognized molar tooth sign (MTS) in 11 of them, thus leading to a diagnostic reassignment as Joubert syndrome (JBTS). Specific MRI features in two further individuals indicated a Poretti-Boltshauser syndrome (PTBHS) and a tubulinopathy. In eight patients, a more precise diagnosis was not achieved. We pursued this cohort aiming at clarification of the definite genetic basis of COMA in each patient. RESULTS: Using a candidate gene approach, molecular genetic panels or exome sequencing, we detected causative molecular genetic variants in 17 of 21 patients with COMA. In nine of those 11 subjects diagnosed with JBTS due to newly recognized MTS on neuroimaging, we found pathogenic mutations in five different genes known to be associated with JBTS, including KIAA0586, NPHP1, CC2D2A, MKS1, and TMEM67. In two individuals without MTS on MRI, pathogenic variants were detected in NPHP1 and KIAA0586, arriving at a diagnosis of JBTS type 4 and 23, respectively. Three patients carried heterozygous truncating variants in SUFU, representing the first description of a newly identified forme fruste of JBTS. The clinical diagnoses of PTBHS and tubulinopathy were confirmed by detection of causative variants in LAMA1 and TUBA1A, respectively. In one patient with normal MRI, biallelic pathogenic variants in ATM indicated variant ataxia telangiectasia. Exome sequencing failed to reveal causative genetic variants in the remaining four subjects, two of them with clear MTS on MRI. CONCLUSIONS: Our findings indicate marked etiologic heterogeneity in COMA with detection of causative mutations in 81% (17/21) in our cohort and nine different genes being affected, mostly genes associated with JBTS. We provide a diagnostic algorithm for COMA.


Assuntos
Doenças Cerebelares , Anormalidades do Olho , Doenças Renais Císticas , Humanos , Doenças Cerebelares/genética , Cerebelo/anormalidades , Anormalidades do Olho/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/patologia , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Doenças Renais Císticas/patologia , Retina/patologia
7.
Eur Rev Med Pharmacol Sci ; 27(9): 3846-3853, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37203809

RESUMO

OBJECTIVE: With the development and widespread use of fetal ultrasound and magnetic resonance technology in recent years, approximately 75% of fetuses are diagnosed prenatally with congenital structural malformations, a serious birth defect that endangers the life and health of the newborn. In this study, we aimed to study and analyze the value of the prenatal-postnatal integrated management model in the screening, diagnosis and treatment of fetal heart malformations. PATIENTS AND METHODS: All pregnant women who were to undergo delivery in our hospital between January 2018 and December 2021 were recruited as the first subjects in this study, and after excluding those who refused to participate in the study, a total of 3,238 cases were finally included as subjects of this study. All pregnant women were screened for fetal heart malformations using the prenatal-postnatal integrated management model. Maternal files were established for all cases of heart malformations, grading the fetuses according to their heart disease grade, observing and recording their deliveries, treatment results and follow-ups. RESULTS: After screening for heart malformations using the prenatal-postnatal integrated management model, 33 cases of heart malformations were identified, including 5 cases of Grade I (all delivered), 6 cases of Grade II (all delivered), 10 cases of Grade III (1 induced), and 12 cases of Grade IV (1 induced); 2 cases of ventricular septal defect healed spontaneously after delivery, and 18 infants were treated accordingly. The results of the later follow-up showed that 10 children had normalized their heart structure, 7 cases had slight alterations in the heart valves, and 1 case died. CONCLUSIONS: The prenatal-postnatal integrated management model is a multidisciplinary cooperation model with certain clinical value in the screening, diagnosis and treatment of fetal heart malformations, which is beneficial to comprehensively improve the ability of hospital physicians in the grading management of heart malformations, detecting fetal heart malformations early and predicting fetal changes after birth. It further reduces the incidence of serious birth defects, conforms to the development trend of the diagnosis and treatment of congenital heart diseases, enables to reduce child mortality with timely treatment, effectively improves the surgical prognosis of critical and complex congenital heart diseases, with a promising application prospect.


Assuntos
Cardiopatias Congênitas , Comunicação Interventricular , Recém-Nascido , Criança , Gravidez , Feminino , Humanos , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/terapia , Ultrassonografia Pré-Natal , Prognóstico , Coração Fetal/anormalidades , Coração Fetal/diagnóstico por imagem , Diagnóstico Pré-Natal
8.
JNMA J Nepal Med Assoc ; 61(259): 283-286, 2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37203938

RESUMO

Herlyn-Werner-Wunderlich syndrome is a rare Mullerian and mesonephric ductal anomaly characterized by a triad of didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis complex. This entity is also known as obstructed hemivagina and ipsilateral renal anomaly. We present a case of a 24-year-old nulliparous female with Herlyn-Werner-Wunderlich who presented with dysmenorrhea and intermenstrual bleeding. The diagnosis was initially made through ultrasound and confirmed on magnetic resonance imaging. The nonspecific nature of symptoms and variability in presentation depending on the classification and type of Herlyn-Werner-Wunderlich syndrome often leads to misdiagnosis or a delay in diagnosis. Therefore, a high index of suspicion is required. Keywords: case reports; mesonephric ducts; mullerian ducts.


Assuntos
Anormalidades Múltiplas , Nefropatias , Feminino , Humanos , Adulto Jovem , Adulto , Vagina/anormalidades , Rim/diagnóstico por imagem , Rim/anormalidades , Útero/diagnóstico por imagem , Útero/anormalidades , Anormalidades Múltiplas/diagnóstico
9.
Klin Monbl Augenheilkd ; 240(4): 499-501, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37164393

RESUMO

BACKGROUND: Morning glory optic disc anomaly (MGODA) is a rare congenital defect of the optic nerve head. The optic nerve is enlarged, and its conical excavation is filled with glial tissue. It may be associated with cerebral malformations and ocular complications, whereas serous retinal detachment occurs in 38% of affected patients. Surgical treatment of detachment showed poor visual outcome in the past and conservative treatment options are scarce. CASE: A woman with MGODA presented in our clinic with sudden vision loss due to serous retinal detachment. She denied any previous ophthalmological problems and her past medical history was unremarkable. Vision testing showed normal visual acuity in her left eye and finger counting in her right eye. Slit lamp examination was unremarkable. Fundus examination of the right eye showed retinal detachment without holes or traction membranes and an enlarged optic disc with raised peripapillary tissue and glial tissue in the center of the optic disc. Due to the pathognomonic otpic disc finding, we diagnosed MGODA complicated by a serous retinal detachment. We treated the patient with systemic carboanhydrase inhibitors and documented the initial clinical findings as well as the course of disease under treatment by optical coherent tomography (OCT), fundus autofluorescence imaging (FAF), and visual field testing. During follow-up, we detected noticeable subretinal fluid regression and improvement in visual acuity. CONCLUSION: The application of oral carboanhydrase inhibitors appears to be a valid therapeutic option in patients with MGODA-associated serous macular detachment. OCT and FAF imaging are useful modalities for documentation of subretinal fluid regression and structural changes in the peripapillary region.


Assuntos
Disco Óptico , Descolamento Retiniano , Humanos , Feminino , Disco Óptico/diagnóstico por imagem , Disco Óptico/anormalidades , Descolamento Retiniano/complicações , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/tratamento farmacológico , Nervo Óptico/anormalidades , Fundo de Olho , Tomografia de Coerência Óptica/métodos
10.
BMC Pediatr ; 23(1): 238, 2023 05 13.
Artigo em Inglês | MEDLINE | ID: mdl-37173730

RESUMO

BACKGROUND: Congenital pulmonary airway malformations (CPAMs) are a heterogenous collection of congenital lung malformations, often diagnosed prenatally. The Stocker Type III CPAM is a rare CPAM sub-type, and, when large, may be associated with hydrops. Furthermore, reports of CPAM management which may include surgical resection in extreme preterm infants are limited. CASE PRESENTATION: We report a case of a female neonate born at 28 weeks of gestation with severe respiratory distress and diffuse pulmonary opacification on the right concerning for a large congenital lung lesion. This lesion was not detected on routine antenatal imaging, and she did not have clinical findings of associated hydrops. Her respiratory status improved dramatically after surgical resection of a mass at 12 day of age. The mass was consistent pathologically with a Stocker Type III CPAM. Lung expansion showed subsequent improvement at 16 months of age. CONCLUSIONS: Our case describes a preterm neonate with severe respiratory distress that was found postnatally to have a large, unilateral congenital lung lesion despite a normal prenatal ultrasound. Additionally, this lesion required excision early in life due to severity of respiratory compromise. This case highlights that rare congenital lung lesions, like this rare sub-type of CPAM, should remain a diagnostic consideration in neonates with severe respiratory distress. Early lung resection for CPAM in preterm infants is not well described and the favorable outcomes of this case help expand perspectives on potential management strategies.


Assuntos
Malformação Adenomatoide Cística Congênita do Pulmão , Síndrome do Desconforto Respiratório , Lactente , Feminino , Recém-Nascido , Humanos , Gravidez , Recém-Nascido Prematuro , Malformação Adenomatoide Cística Congênita do Pulmão/complicações , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico por imagem , Malformação Adenomatoide Cística Congênita do Pulmão/cirurgia , Pulmão/diagnóstico por imagem , Pulmão/cirurgia , Pulmão/anormalidades , Dispneia , Síndrome do Desconforto Respiratório/patologia , Edema
11.
HGG Adv ; 4(3): 100188, 2023 07 13.
Artigo em Inglês | MEDLINE | ID: mdl-37124138

RESUMO

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated several candidate genes, only WNT4 (MIM: 603490) variants have been definitively associated with a subtype of MRKH with hyperandrogenism (MIM: 158330). DNA from 148 clinically diagnosed MRKH probands across 144 unrelated families and available family members from North America, Europe, and South America were exome sequenced (ES) and by family-based genomics analyzed for rare likely deleterious variants. A replication cohort consisting of 442 Han Chinese individuals with MRKH was used to further reproduce GREB1L findings in diverse genetic backgrounds. Proband and OMIM phenotypes annotated using the Human Phenotype Ontology were analyzed to quantitatively delineate the phenotypic spectrum associated with GREB1L variant alleles found in our MRKH cohort and those previously published. This study reports 18 novel GREB1L variant alleles, 16 within a multiethnic MRKH cohort and two within a congenital scoliosis cohort. Cohort-wide analyses for a burden of rare variants within a single gene identified likely damaging variants in GREB1L (MIM: 617782), a known disease gene for renal hypoplasia and uterine abnormalities (MIM: 617805), in 16 of 590 MRKH probands. GREB1L variant alleles, including a CNV null allele, were found in 8 MRKH type 1 probands and 8 MRKH type II probands. This study used quantitative phenotypic analyses in a worldwide multiethnic cohort to identify and strengthen the association of GREB1L to isolated uterine agenesis (MRKH type I) and syndromic MRKH type II.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Urogenitais , Humanos , Feminino , Transtornos 46, XX do Desenvolvimento Sexual/genética , Útero/anormalidades
12.
Methodist Debakey Cardiovasc J ; 19(3): 108-110, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37213871

RESUMO

Congenital absence of the pericardium is a rare anomaly, affecting the left pericardium (86%) more than the right, with male predilection distribution (3:1). In the majority of cases, the condition is asymptomatic. We describe a case of a 55-year-old female with a history of chronic hypercapnic respiratory failure secondary to restrictive lung disease who was referred to cardiovascular magnetic resonance (CMR) lab for shunt evaluation based on right ventricular pressure overload and paradoxical septal motion.


Assuntos
Imageamento por Ressonância Magnética , Pericárdio , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pericárdio/diagnóstico por imagem , Pericárdio/anormalidades
13.
J Pak Med Assoc ; 73(5): 1029-1033, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37218229

RESUMO

OBJECTIVE: To compare two clinical tests used for assessment of absence of palmaris longus, and to determine the prevalence of the absence of palmaris longus among ethnic groups in a cosmopolitan setting. Methods: The cross-sectional descriptive study was conducted at the Bahria University Health Sciences, Karachi, from April 2021 to May 2022, during which forearms belonging to Sindhi, Punjabi and Urdu-speaking ethnic groups were tested. Assessment of presence or absence of palmaris longus was performed using Schaeffer's and Thompson's tests. Agenesis and association of ethnicity and agenesis were compared. Data was analysed using SPSS 23. RESULTS: Of the 250 subjects, 152(60.8%) were females and 98(39.2%) were males. The overall mean age was 20.4±2.23 years (range: 18-23 years). In terms of ethnicity, 100(40%) subjects each were Punjabis and Urdu-speaking, while 50(20%) were Sindhis. The total forearms assessed were 500. The overall agenesis was 186(37.2%). When the two assessment tests were compared, highly significant differences were noted (p<0.000). Overall agenesis was highest among Sindhis 40%, followed by 38% in Punjabis, and 35% in Urdu-speaking. Significant differences were observed when one-sided palmaris longus absence was compared with two-sided absence (p<0.037). Conclusion: Schaeffer's test had more accuracy compared to the Thompson's test in the determination of palmaris longus agenesis. There were variations in terms of agenesis among the ethnic groups.


Assuntos
Etnicidade , Tendões , Masculino , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Tendões/anormalidades , Antebraço , Estudos Transversais , Músculo Esquelético
14.
BMJ Case Rep ; 16(5)2023 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-37156565

RESUMO

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a condition caused by Müllerian anomalies, is characterised by congenital vaginal aplasia and a rudimentary uterus. Case reports concerning uterine fibroids associated with MRKH syndrome are limited, and differentiating between uterine fibroids and ovarian solid tumours prior to surgical intervention is often challenging. Here, we present the case of a patient with MRKH syndrome and asymptomatic bilateral pelvic solid tumours located close to both ovaries. Based on intraoperative and histopathological findings, the tumours were diagnosed as adenomyomas of the rudimentary uterus. This is the first reported case of a uterine adenomyoma associated with MRKH syndrome. Moreover, our report highlights the fact that diagnostic laparoscopy is a valuable method to evaluate pelvic tumours in MRKH syndrome.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Adenomioma , Anormalidades Congênitas , Laparoscopia , Leiomioma , Neoplasias Pélvicas , Feminino , Humanos , Adenomioma/complicações , Adenomioma/diagnóstico , Adenomioma/cirurgia , Neoplasias Pélvicas/cirurgia , Útero/cirurgia , Útero/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/complicações , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Vagina/cirurgia , Vagina/anormalidades , Ductos Paramesonéfricos/cirurgia , Ductos Paramesonéfricos/anormalidades , Laparoscopia/métodos , Leiomioma/cirurgia , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/cirurgia
15.
Ann Plast Surg ; 90(5S Suppl 3): S312-S314, 2023 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-37227409

RESUMO

BACKGROUND: Cleft lip and palate is the most common congenital defect of the head and neck, occurring in 1 of 700 live births. Diagnosis often occurs in utero by conventional or 3-dimensional ultrasound. Early cleft lip repair (ECLR) (<3 months of life) for unilateral cleft lip (UCL), regardless of cleft width, has been the mainstay of lip reconstruction at Children's Hospital Los Angeles since 2015. Historically, traditional lip repair (TLR) was performed at 3 to 6 months of life ± preoperative nasoalveolar molding (NAM). Previous publications highlight the benefits of ECLR, such as enhanced aesthetic outcomes, decreased revision rate, better weight gain, increased alveolar cleft approximation, cost savings of NAM, and improved parent satisfaction. Occasionally, parents are referred for prenatal consultations to discuss ECLR. This study evaluates timing of cleft diagnosis, preoperative surgical consultation, and referral patterns to validate whether prenatal diagnosis and prenatal consultation lead to ECLR. METHODS: Retrospective review evaluated patients who underwent ECLR versus TLR ± NAM from 2009 to 2020. Timing of repair, cleft diagnosis, and surgical consultation, as well as referral patterns, were abstracted. Inclusion criteria dictated: age < 3 months for ECLR or 3 to 6 months for TLR, no major comorbidities, and diagnosis of UCL without palatal involvement. Patients with bilateral cleft lip or craniofacial syndromes were excluded. RESULTS: Of 107 patients, 51 (47.7%) underwent ECLR whereas 56 underwent TLR (52.3%). Average age at surgery was 31.8 days of life for the ECLR cohort and 112 days of life for the TLR cohort. Furthermore, 70.1% of patients were diagnosed prenatally, yet only 5.6% of families had prenatal consults for lip repair, 100% of which underwent ECLR. Most patients were referred by pediatricians (72.9%). Significance was identified between incidence of prenatal consults and ECLR (P = 0.008). In addition, prenatal diagnosis was significantly correlated with incidence of ECLR (P = 0.027). CONCLUSIONS: Our data demonstrate significance between prenatal diagnosis of UCL and prenatal surgical consultation with incidence of ECLR. Accordingly, we advocate for education to referring providers about ECLR and the potential for prenatal surgical consultation in the hopes that families may enjoy the myriad benefits of ECLR.


Assuntos
Fenda Labial , Fissura Palatina , Criança , Humanos , Lactente , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Nariz/cirurgia , Melhoria de Qualidade , Processo Alveolar/anormalidades , Estudos Retrospectivos , Encaminhamento e Consulta
16.
Int J Mol Sci ; 24(10)2023 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-37240142

RESUMO

Infertility is a condition affecting women who are born with an underdeveloped or absent vagina, a birth defect known as congenital absence of the vagina. It is a rare disorder where the development of the Mullerian duct is obstructed by unidentified causes. The case is seldom reported due to the low prevalence and sparse epidemiology studies worldwide. A potential solution for the disorder is neovaginal creation with in vitro cultured vaginal mucosa. Limited studies have reported its application, but none are reproducible or specific regarding the established processes for acquiring vaginal epithelial cells from vaginal biopsies. These research gaps were adequately answered with an epidemiology study of inpatient details in Hospital Canselor Tuanku Muhriz, Malaysia, established methods and outcomes of vaginal tissue processing and isolation, and characterization of vaginal epithelial cells using 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl-2H-tetrazolium bromide (MTT) and immunofluorescence assays. The reported evidence and speculation that the disorder arises because of a cellular transition event between epithelial and mesenchymal cells during the development of the Mullerian duct could be key in the creation of neovaginas using established culture procedures to improve surgical results and restore fertility.


Assuntos
Anormalidades Congênitas , Procedimentos de Cirurgia Plástica , Humanos , Feminino , Vagina/anormalidades , Células Epiteliais , Mucosa , Anormalidades Congênitas/patologia
17.
Chest ; 163(5): e201-e205, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37164583

RESUMO

Pulmonary arteriovenous malformations (PAVMs) are rare and most often identified in patients with hereditary hemorrhagic telangiectasia (HHT). We describe a patient with severe hypoxemia and orthodeoxia with imaging findings consistent with PAVMs. Resected lung pathologic findings confirmed the presence of numerous microscopic vascular abnormalities within the right lower lobe that was consistent with diffuse pulmonary arteriovenous shunts. Family history was negative for HHT but was positive for pulmonary arterial hypertension (PAH) in two second-degree relatives. A vascular malformation gene panel was negative for genes that commonly are associated with HHT but identified a pathogenic variant in the gene encoding bone morphogenetic protein receptor-2 (BMPR2 p.Cys123∗). Pathogenic variants in BMPR2 are a well-known cause of hereditary PAH; there have been several reports to date of patients with PAVMs and PAH. However, this is the first patient to be reported with a pathogenic variant in BMPR2 to have PAVMs in isolation.


Assuntos
Fístula Arteriovenosa , Malformações Arteriovenosas , Hipertensão Arterial Pulmonar , Veias Pulmonares , Telangiectasia Hemorrágica Hereditária , Humanos , Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/genética , Malformações Arteriovenosas/cirurgia , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/genética , Pulmão , Fístula Arteriovenosa/complicações , Veias Pulmonares/cirurgia , Veias Pulmonares/anormalidades , Artéria Pulmonar/anormalidades , Hipertensão Pulmonar Primária Familiar/complicações , Hipertensão Arterial Pulmonar/complicações
18.
J Orthop Surg Res ; 18(1): 329, 2023 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-37131198

RESUMO

BACKGROUND: Several types of pelvic osteotomy techniques have been reported and employed by orthopedic surgeons to enhance the approximation of symphyseal diastasis in bladder exstrophy patients. However, there is limited evidence on a long-term follow-up to confirm which osteotomy techniques provide the most suitable and effective outcomes for correcting pelvic deformities. This study aimed to describe the surgical technique of bilateral iliac bayonet osteotomies for correcting pelvic bone without using fixation in bladder exstrophy and to report on the long-term clinical and radiographic outcomes following the bayonet osteotomies. METHODS: We retrospectively reviewed patients with bladder exstrophy who underwent bilateral iliac bayonet osteotomies with the closure of bladder exstrophy between 1993 and 2022. Clinical outcomes and radiographic pubic symphyseal diastasis measurements were evaluated. From a total of 28 operated cases, eleven were able to attend a special follow-up clinic or were interviewed by telephone by one of the authors with completed charts and recorded data. RESULTS: A total of 11 patients (9 female and 2 male) with an average age at operation of 9.14 ± 11.57 months. The average followed-up time was 14.67 ± 9.24 years (0.75-29), with the average modified Harris Hip score being 90.45 ± 1.21. All patients demonstrated decreased pubic symphyseal diastasis distance (2.05 ± 1.13 cm) compared to preoperative (4.58 ± 1.37 cm) without any evidence of nonunion. At the latest follow-up, the average foot progression angle was externally rotated 6.25° ± 4.79° with full hips ROM, and no patients reported abnormal gait, hip pain, limping, or leg length discrepancy. CONCLUSIONS: Bilateral iliac wings bayonet osteotomies technique demonstrated a safe and successful pubic symphyseal diastasis closure with an improvement both clinically and radiographically. Moreover, it showed good long-term results and excellent patient's reported outcome scores. Therefore, it would be another effective option for pelvic osteotomy in treating bladder exstrophy patients.


Assuntos
Extrofia Vesical , Ossos Pélvicos , Diástase da Sínfise Pubiana , Humanos , Masculino , Feminino , Lactente , Extrofia Vesical/diagnóstico por imagem , Extrofia Vesical/cirurgia , Estudos Retrospectivos , Ílio/cirurgia , Ossos Pélvicos/diagnóstico por imagem , Ossos Pélvicos/cirurgia , Ossos Pélvicos/anormalidades , Diástase da Sínfise Pubiana/cirurgia , Osteotomia/métodos
19.
Artigo em Inglês | MEDLINE | ID: mdl-37134052

RESUMO

BACKGROUND: Hallucal sesamoid injuries occur in approximately 5% to 10% of foot and ankle injuries. Most cases can be treated conservatively. However, when nonoperative management fails, surgical intervention is warranted. METHODS: The present case involved a 17-year-old female high school senior who presented to the clinic with right hallux pain. Radiographs were obtained and revealed congenital absence of the fibular sesamoid and evidence of a minimally displaced avulsion fracture involving the proximal medial tibial sesamoid. Treatment was complicated by the congenital absence of the fibular sesamoid and by a high activity level. RESULTS: After conservative treatment failure, the patient underwent partial excision of her tibial sesamoid. She was followed for 1.5 years after initial presentation to our clinic. The patient was able to return to daily activities; however, she was not able to return to softball competitively due to pain. CONCLUSIONS: We hypothesize she was unable to return to softball because the absence of a sesamoid can decrease push-off strength. We recommend that providers treating athletes educate their patients on the possible loss of strength and take this into account when creating a treatment plan.


Assuntos
Hallux , Ossos Sesamoides , Fraturas da Tíbia , Humanos , Feminino , Adolescente , Ossos Sesamoides/diagnóstico por imagem , Ossos Sesamoides/cirurgia , Ossos Sesamoides/anormalidades , Tíbia , Dor
20.
Kyobu Geka ; 76(5): 400-403, 2023 May.
Artigo em Japonês | MEDLINE | ID: mdl-37150923

RESUMO

An internal mammary artery to pulmonary artery (IMA-PA) fistula is a very rare vascular abnormality. Patients with this disease are often asymptomatic, but they may develop symptoms such as heart failure and hemoptysis. A 60-year-old woman was incidentally diagnosed with left IMA-PA fistula by chest computed tomography (CT) during an examination for colon cancer. She was asymptomatic, but we determined that surgery was indicated because of the presence of an aneurysmal change. We performed complete surgical resection of the IMA-PA fistula and aneurysm under cardiopulmonary bypass. Her postoperative course was uneventful. Although a specific management strategy for IMA-PA fistula has not yet been established, surgical treatment should be performed to prevent rupture in cases with aneurysmal change.


Assuntos
Fístula Artério-Arterial , Aneurisma Coronário , Fístula , Artéria Torácica Interna , Humanos , Feminino , Pessoa de Meia-Idade , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/cirurgia , Artéria Pulmonar/anormalidades , Artéria Torácica Interna/diagnóstico por imagem , Artéria Torácica Interna/cirurgia , Aneurisma Coronário/complicações , Fístula/cirurgia , Tomografia Computadorizada por Raios X , Fístula Artério-Arterial/diagnóstico por imagem , Fístula Artério-Arterial/cirurgia , Fístula Artério-Arterial/etiologia
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