RESUMO
BACKGROUND: Clinical variability among individuals with heterozygous pathogenic/likely pathogenic (P/LP) variants in the COL4A3/COL4A4 genes (also called autosomal dominant Alport syndrome or COL4A3/COL4A4-related disorder) is huge; many individuals are asymptomatic or show microhematuria, while others may develop proteinuria and chronic kidney disease (CKD). The prevalence of simple kidney cysts (KC) in the general population varies according to age, and patients with advanced CKD are prone to have them. A possible association between heterozygous COL4A3, COL4A4 and COL4A5 P/LP variants and KC has been described in small cohorts. The presence of KC in a multicenter cohort of individuals with heterozygous P/LP variants in the COL4A3/COL4A4 genes is assessed in this study. METHODS: We evaluated the presence of KC by ultrasound in 157 individuals with P/LP variants in COL4A3 (40.7%) or COL4A4 (53.5%) without kidney replacement therapy. The association between presence of KC and age, proteinuria, estimated glomerular filtration rate (eGFR) and causative gene was analyzed. Prevalence of KC was compared with historical case series in the general population. RESULTS: Half of the individuals with P/LP variants in COL4A3/COL4A4 showed KC, which is a significantly higher percentage than in the general population. Only 3.8% (6/157) had cystic nephromegaly. Age and eGFR showed an association with the presence of KC (P < .001). No association was found between KC and proteinuria, sex or causative gene. CONCLUSIONS: Individuals with COL4A3/COL4A4 P/LP variants are prone to develop KC more frequently than the general population, and their presence is related to age and to eGFR. Neither proteinuria, sex nor the causative gene influences the presence of KC in these individuals.
Assuntos
Autoantígenos , Colágeno Tipo IV , Heterozigoto , Doenças Renais Císticas , Humanos , Colágeno Tipo IV/genética , Feminino , Masculino , Prevalência , Adulto , Pessoa de Meia-Idade , Doenças Renais Císticas/genética , Doenças Renais Císticas/epidemiologia , Autoantígenos/genética , Nefrite Hereditária/genética , Nefrite Hereditária/epidemiologia , Taxa de Filtração Glomerular , Adulto Jovem , Idoso , Mutação , Cistos/genética , Cistos/epidemiologia , Prognóstico , AdolescenteRESUMO
The main cause of diffuse thyroid goiter is autoimmune chronic thyroiditis, otherwise known as Hashimoto's thyroiditis. Thyroid hormones play pivotal roles in growth and development during childhood. However, the prevalence of diffuse goiter and the relationships between diffuse goiter, thyroid volume, cysts and nodules, and anthropometric measurements in children are not well known. Among 789,459 participants who participated in thyroid ultrasound examinations, 320,206 participants (male: 161,728; female: 158,478) aged 1-23 years were analyzed. Logistic regression analyses were conducted to calculate the odds ratios of the standard deviation score of body mass index (BMI-SDS), the SDS of bilateral width multiplied thickness area (BWTAR-SDS) as a provisional determination of thyroid volume, and the presence of nodules or cysts for positive diffuse goiter compared with negative diffuse goiter after correction for sex and age. The prevalence of diffuse goiter increased in a female-dominant manner with aging. Compared with the absence of diffuse goiter, the age- and sex-adjusted odds ratios (95% confidence intervals) for BMI-SDS (1 SD), BWTAR-SDS (1 SD), cysts, and nodules were 1.24 (1.21-1.27), 3.21 (3.13-3.29), 0.53 (0.50-0.58), and 1.38 (1.17-1.64), respectively. The odds ratios of nodules for positive diffuse goiter were 4.18 (1.08-16.08), 1.76 (1.01-3.07), 1.80 (1.32-2.45), and 1.34 (1.08-1.67) in the age groups 1-7, 8-11, 12-15, and 16-23 years, respectively. The age-dependent increase in the prevalence of diffuse goiter was independently associated with increased BMI and positive prevalence of nodules in young individuals.
Assuntos
Índice de Massa Corporal , Cistos , Bócio , Nódulo da Glândula Tireoide , Ultrassonografia , Humanos , Feminino , Adolescente , Masculino , Prevalência , Criança , Nódulo da Glândula Tireoide/epidemiologia , Nódulo da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/diagnóstico por imagem , Japão/epidemiologia , Cistos/epidemiologia , Cistos/diagnóstico por imagem , Cistos/patologia , Pré-Escolar , Lactente , Adulto Jovem , Bócio/epidemiologia , Bócio/diagnóstico por imagem , Inquéritos Epidemiológicos , Glândula Tireoide/diagnóstico por imagem , Glândula Tireoide/patologiaRESUMO
BACKGROUND: Fibrous dysplasia (FD) is a rare hereditary bone disorder, typically accompanied by a seemingly-high percentage of cystic changes in central nerve system tumors. This study aimed to investigate the associations between concurrent FD lesions and the cystic formation of vestibular schwannoma (VS). METHODS: Patients with VSs in our institution from January 2020 to September 2022 were retrospectively included. Based on the contrasted MRI, VSs were grouped as the cystic and solid type. Concurrent FD was diagnosed based on the radiological findings. A logistic analysis was applied to investigate the relationship between concurrent FD and cystic VSs. The effect of the interaction between gender and concurrent FD on the cystic formation of VSs was further analyzed. RESULTS: The current study included 1255 patients with VSs (681 females with a median age of 47 years). Of them, 142 (11.3%) were with cystic VSs. A higher percentage of cystic VSs was observed in female patients (P = 0.021), patients with concurrent FDs (P < 0.001) and those with a larger VS volume (P < 0.001). An increasing trend in percentage of cystic VSs was found among patients with from 0 to ≥ 3 FD lesions (P for trend as < 0.001). A multivariate logistic analysis identified concurrent FD (odds ratio, 6.58; 95%CI, 1.66-26.09; P = 0.007) and VS volume (odds ratio, 1.55; 95%CI, 1.66-1.70; P < 0.001) as independent risk factors related to the cystic formation. CONCLUSION: Concurrent FD is associated with a high incidence of cystic formation in VSs, which provides a new breakthrough point to investigate the underlying mechanism of cystic formation of VSs.
Assuntos
Neuroma Acústico , Humanos , Feminino , Neuroma Acústico/epidemiologia , Neuroma Acústico/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Adulto , Estudos Retrospectivos , Incidência , Imageamento por Ressonância Magnética , Idoso , Displasia Fibrosa Óssea/complicações , Displasia Fibrosa Óssea/epidemiologia , Cistos/epidemiologia , Adulto Jovem , AdolescenteRESUMO
OBJECTIVE: As part of the National Disease Surveillance Program for Taiwanese Aquaculture, we investigated the causative agent of disease outbreaks in farmed Chicken Grunts Parapristipoma trilineatum. METHODS: In this study, outbreak cases on two separate farms were noticed in coastal Pingtung County, Taiwan. In total, 50 juvenile fish showing clinical signs (such as emaciation and erratic swimming behavior) and broodstock (two females and two males) from both farms were collected to perform gross lesion assessment, histopathological examination, and molecular identification of the pathogen. RESULT: Clinical symptoms were infected fish exhibited erratic swimming behavior, such as whirling and floating on the surface of the water. In the following months, cumulative mortality had reached 19% and 24%, respectively. The gross lesions in the infected fish included white oval cysts in the muscle, serosa of the internal organs, sclera of the eyes, and cerebral meninges. After conducting a wet mount examination of cysts using a light microscope, we observed a significant quantity of spores with morphological characteristics, suggesting their affiliation with the Myxosporea group. The spores were semiquadrate, with four tiny suture notches at the periphery; the mean spore length was 7.3 µm (SD = 0.5), and the mean spore width was 8.2 µm (SD = 0.6). The mean length and width of the pyriform polar capsules (nematocysts) were 3.6 µm (SD = 0.5) and 2.2 µm (SD = 0.5), respectively. The 18S and 28S ribosomal RNA sequences of these specimens were identical to those of Kudoa lutjanus. CONCLUSION: As this was the first time an outbreak of K. lutjanus in Chicken Grunts was confirmed, its reappearance with substantial mortality should serve as a warning to the aquaculture industry.
Assuntos
Cistos , Doenças dos Peixes , Myxozoa , Doenças Parasitárias em Animais , Feminino , Masculino , Animais , Galinhas/genética , DNA Ribossômico/genética , Sequência de Bases , RNA Ribossômico 18S/genética , Peixes/genética , Myxozoa/genética , Surtos de Doenças/veterinária , Cistos/epidemiologia , Cistos/genética , Cistos/veterinária , Doenças dos Peixes/epidemiologia , Filogenia , Doenças Parasitárias em Animais/epidemiologiaRESUMO
BACKGROUND: Orofacial cysts are pathologic cavities that could be symptomatic and may cause facial disfigurement. The only epidemiologic report of such lesions in Southeast Nigeria studied jaw cysts from 1987 to 1996. New studies reflecting recent research findings and classifications on the subject in Southeast Nigeria are lacking. AIM: To determine the prevalence and distribution of orofacial cysts in a tertiary hospital in Enugu, Southeast Nigeria. METHODS: A 10-year retrospective study of patients with orofacial cysts diagnosed by histology was carried out. RESULTS: Orofacial cysts constitute 9.5% (85) of 897 orofacial lesions identified. The male-to-female gender ratio was 1.2:1. The mean age (± standard deviation) at the onset of the cystic lesion was 28.58 (±16.98) years. Developmental odontogenic cysts 52.9% (45) and salivary cysts 18.8% (16) were the most common group of orofacial cysts. The most prevalent orofacial cysts were odontogenic keratocysts at 25.9% (22), mucoceles 16.5% (14), and dentigerous cysts 14.1% (12). Straw-colored aspirates 34.8% (16) and dark brown aspirates 28.3% (13) were the predominant cystic contents. The mandible 45.9% (39) and maxilla 27.1% (23) were the commonest sites for orofacial cysts, while the lip 9.4% (8) was the most frequent soft tissue site. A significant association exists between anatomical site and cyst type at a 95% confidence interval with P = 0.000, X2 = 247.17. Unilocular radiolucency 62.5% (20) and multilocular radiolucency 34.4% (11) were the most common radiographic features. CONCLUSION: Developmental odontogenic cysts particularly odontogenic keratocysts were most prevalent while mucocele was the most common soft tissue cyst.
Assuntos
Cistos Odontogênicos , Humanos , Masculino , Feminino , Nigéria/epidemiologia , Estudos Retrospectivos , Adulto , Prevalência , Adolescente , Criança , Pessoa de Meia-Idade , Cistos Odontogênicos/epidemiologia , Cistos Odontogênicos/patologia , Adulto Jovem , Pré-Escolar , Idoso , Cistos/epidemiologia , Cistos/patologia , Distribuição por Sexo , Mucocele/epidemiologia , Mucocele/patologiaRESUMO
INTRODUCTION: The primary aim of the study was to identify risk factors associated with fetal or neonatal loss, neonatal morbidity, and the need for surgery in fetuses diagnosed with an abdominal cyst. The secondary aim was to compare the characteristics of the cyst according to trimester at diagnosis. MATERIAL AND METHODS: This was an observational retrospective study performed at Vall d'Hebron University Hospital. The study included pregnant women aged 18 years or older with diagnosis of a fetal abdominal cyst from 2008 to 2021. RESULTS: A total of 82 women with a median gestational age of 31+1 weeks (12+0-39+4) were included in the analysis. Seven (8.5%) cases were diagnosed in the first trimester, 28 (34.1%) in the second trimester, and 47 (57.3%) in the third trimester. Fetal or neonatal loss occurred in 10 (12.2%) cases; significant predictors were diagnosis in the first trimester (OR 36.67, 95% CI: 4.89-274.79), male gender (OR 4.75, 95% CI: 1.13-19.9), and associated abnormalities (OR 15.2, 95% CI: 2.92-79.19). A total of 10 of 75 (13.3%) neonates showed at least one neonatal complication, and the only predictor was occurrence of associated abnormalities (OR 7.36, 95% CI: 1.78-30.51). A total of 16 of 75 (21.3%) neonates required postnatal surgery, and the predictors were second-trimester diagnosis (OR 3.92, 95% CI: 1.23-12.51), associated abnormalities (OR 3.81, 95% CI: 1.15-12.64), and bowel location (OR 10.0, 95% CI: 1.48-67.55). CONCLUSIONS: Factors associated with adverse outcomes in fetuses diagnosed with abdominal cysts are first-trimester diagnosis and associated abnormalities. Cysts detected in the second trimester and those of intestinal origin are more likely to require surgery.
Assuntos
Cistos , Resultado da Gravidez , Recém-Nascido , Gravidez , Humanos , Masculino , Feminino , Estudos Retrospectivos , Terceiro Trimestre da Gravidez , Primeiro Trimestre da Gravidez , Cistos/diagnóstico , Cistos/epidemiologia , Cistos/cirurgia , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: The purpose of the present paper is to assess the morbidity specifics risk factors of hepatic hydatid cyst after conservative surgery. METHODS: We conducted a retrospective study of 102 patients over a period of 13 years, from 2006 to 2019. We included all patients operated on hydatid cyst of the liver, complicated and uncomplicated, in the Department of General Surgery in Tahar Sfar hospital, Mahdia, Tunisia. We excluded patients who received an exclusive medical treatment and those who have other hydatic cyst localizations. RESULTS: The cohort was composed of 102 patients with a total of 151 cysts operated on using conservative surgery, among them there was 75 women (73.5%) and 27 men (26.5%). The median age was 43, with extremes ranging from 12 to 88 years. The majority of patients (94.1%) were from rural areas. The cysts were uncomplicated in about half of the cases (48%), elsewhere complications such as compression of neighboring organs (25.5%), opening in the bile ducts (16.7%), infection (9.8%), and rupture in the peritoneum (2%) were found. Conservative surgery was the mainstay of treatment with an overall mortality rate of 1.9%. The overall morbidity rate was 22%: 14% specific morbidity and 8% non-specific morbidity. External biliary fistula was the most common postoperative complication (9%). The predictive factors of morbidity in univariate analysis were: preoperative hydatid cyst infection (P = 0.01), Compressive cysts (P = 0.05), preoperative fever and jaundice, (respectively P = 0.03 and P = 0.02), no one achieved statistical significance in the multivariate model. CONCLUSIONS: Preoperative hydatid cyst infection, compressive cysts and preoperative fever and jaundice could be predictor factors of morbidity after conservative surgery for liver hydatid cyst. They must be considered in the treatment and the surgical decision for patients with hydatid cyst.
Assuntos
Cistos , Adulto , Cistos/epidemiologia , Cistos/cirurgia , Feminino , Humanos , Fígado , Masculino , Morbidade , Estudos Retrospectivos , Fatores de RiscoRESUMO
BACKGROUND: A paraovarian cyst (POC) is located between the ovary and the fallopian tube. In many cases POCs are diagnosed and managed as ovarian cysts. But since POC are a distinct entity in their clinical presentation and surgical intervention, they should be better defined. OBJECTIVES: To describe the clinical perioperative and operative characteristics of patients with POCs in order to improve pre-operative diagnosis and management. METHODS: A retrospective cohort study of patients with an operative diagnosis of POC between 2007 and 2019 in a single university-affiliated tertiary care medical center was included. Demographic characteristics as well as symptoms, sonographic appearance, surgery findings, and histology results were retrieved from electronic medical records. RESULTS: During the study period 114 patients were surgically diagnosed with POC, 57.9% were in their reproductive years and 24.6% were adolescents. Most presented with abdominal pain (77.2%). Preoperative sonographic exams accurately diagnosed POC in only 44.7% of cases, and 50.9% underwent surgery due to suspected torsion, which was surgically confirmed in 70.7% of cases. Among women with confirmed torsion, 28.9% involved the fallopian tube without involvement of the ipsilateral ovary. Histology results showed benign cysts in all cases, except two, with a pathological diagnosis of serous borderline tumor. CONCLUSIONS: POC should always be part of the differential diagnosis of women presenting with lower abdominal pain and sonographic evidence of adnexal cysts. If POC is suspected there should be a high level of suspicion for adnexal torsion and low threshold for surgical intervention, especially in adolescent, population who are prone to torsion.
Assuntos
Dor Abdominal , Cistos , Doenças das Tubas Uterinas/diagnóstico , Procedimentos Cirúrgicos em Ginecologia , Cistos Ovarianos/diagnóstico , Dor Abdominal/diagnóstico , Dor Abdominal/etiologia , Adulto , Cistos/diagnóstico , Cistos/epidemiologia , Cistos/fisiopatologia , Cistos/cirurgia , Diagnóstico Diferencial , Feminino , Procedimentos Cirúrgicos em Ginecologia/métodos , Procedimentos Cirúrgicos em Ginecologia/estatística & dados numéricos , Humanos , Israel/epidemiologia , Avaliação de Processos e Resultados em Cuidados de Saúde , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Centros de Atenção Terciária/estatística & dados numéricos , Anormalidade Torcional/diagnóstico , Anormalidade Torcional/etiologia , Ultrassonografia/métodosRESUMO
BACKGROUND: Tailgut cysts (TGCs) are benign congenital abnormalities that usually present with non-specific symptoms, constituting a diagnostic dilemma for physicians. The aim of this study was to systematically review the literature concerning clinical manifestations, diagnostic modalities and histologic findings of TGCs and highlight current knowledge on therapeutic management of this rare entity. METHODS: PubMed and Embase databases were systematically searched by two independent investigators (last search 18 February 2021) for studies concerning TGCs published in the past two decades. RESULTS: Totally, 144 articles, including 135 case reports and 9 case series, met our inclusion criteria. One hundred eighty-four patients were included (3:1/female:male) with an age of 42.3 ± 18.7 years (mean, SD), while 5 cases concerned new-born infants. Pain was the prevailing clinical manifestation (41.8%), whereas 16.8% were asymptomatic. MRI and CT were utilized for diagnosis in 58.7% and 54.7% of cases, respectively. The majority of cysts were multilocular, while ciliated columnar epithelium and smooth muscles of the cyst wall were the prevailed histological findings. Malignant degeneration of TGCs was reported in 32.1% of cases, while carcinoid tumours were the most frequent malignancies. Surgical resection was performed in 155 cases, while laparoscopic and robotic approach was preferred in 18 and 2 cases, respectively. A posterior approach was implemented in 80.9%, anterior technique in 9% and combined technique in 6.7% of cases. Postoperative complications and recurrence of the cystic lesion were reported in 17.4% and 7.6% of cases, respectively. CONCLUSIONS: TGCs constitute a dilemma for the physicians. Surgical resection comprises the ultimate treatment to avoid complications or malignant transformation of the cyst. Concrete follow-up strategies and optimal therapeutic options should be outlined through consensus guidelines and at the time being, such decisions can be made only on the basis of extrapolation and on a case-by-case approach.
Assuntos
Cistos , Laparoscopia , Adulto , Cistos/diagnóstico por imagem , Cistos/epidemiologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Adulto JovemRESUMO
BACKGROUND AND AIM: Blood cysts of cardiac valves are generally seen in newborns and infants and very rarely in adults. Although in most cases they are incidental findings they may be associated to severe cardiac or systemic complications. This study analyzes incidence, presentation, and treatment of valvular blood cysts in adults. METHODS: A review of the pertinent literature through a search mainly on PubMed and Medline was performed. RESULTS: In patients ≥18 years of age, our search disclosed 54 patients with mitral blood cysts (mean age, 48 ± 18 years), 9 with a tricuspid valve cyst (mean age, 67 ± 15 years), 3 with a blood cyst on the pulmonary valve (age 31, 43, and 44 years), and 1 aortic valve cyst in a 22-year-old man. Most patients were asymptomatic while stroke, syncope, or myocardial infarction occurred in six patients with a mitral valve cyst. Blood cysts were removed surgically in 70% of patients with a mitral cyst, in 55% with a tricuspid cyst, and in all those with a pulmonary or aortic cyst. At histology, the cyst wall was composed mainly by fibrous tissue and with the inner surface lined with typical endothelium. CONCLUSIONS: Blood cysts of cardiac valves are rare in adults but may cause life-threatening complications, particularly when located on the mitral valve. For such reason, surgical removal appears advisable, with low-risk procedures. Widespread use of multimodality imaging techniques will most likely increase the number of valvular blood cysts diagnosed also in adults.
Assuntos
Cistos , Valva Pulmonar , Adulto , Idoso , Idoso de 80 Anos ou mais , Valva Aórtica , Cistos/diagnóstico por imagem , Cistos/epidemiologia , Cistos/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Valva Mitral/diagnóstico por imagem , Valva Mitral/cirurgia , Valva Tricúspide , Adulto JovemRESUMO
BACKGROUND: Nasopalatine duct cyst (NDC) is the most common non-odontogenic cyst in the oral cavity. Clinically it is not difficult to suspect these lesions based on clinical and radiographic appearance. However, the histopathological diagnosis may be difficult due to the broad morphological diversity of these lesions. The objective was to analyze the clinicopathological features of NDCs diagnosed in two oral and maxillofacial pathology services in the Brazilian northeast. MATERIAL AND METHODS: A retrospective clinicopathologic study was performed. A total of 18,121 clinical records of oral lesions from two oral and maxillofacial pathology services in Brazil were analyzed (2000-2020). All NDCs cases were revised and demographic, clinical, radiographic, and histopathological data were collected. RESULTS: Among 18,121 diagnoses in the oral pathology services, 45 (0.2%) were NDCs. The series comprises 24 males (53.3%) and 21 females (46.7%), with a mean age of 43.2 years-old. Most lesions were asymptomatic (n = 27, 60%) with an mean size of 2.1 cm. Microscopically, the non-keratinized stratified squamous epithelium was the most common (66.7%). However, in 88.9% of cases, the epithelial lining was varied and composed of two or more types of epithelium. There was no significant association between the type of epithelium and the size of the cysts (p = 0.389). Nerve, blood vessels, hemorrhage, and chronic inflammatory infiltrate were commonly observed. In contrast, there was a low frequency of mucous glands, sebaceous glands, cholesterol clefts, and multinucleated giant cells. CONCLUSIONS: The clinical, radiographic, and microscopic findings observed in this study are similar to those reported in the literature. Due to the morphological diversity of NDC, it is needed to correlate its histopathological features with the clinical and radiographic findings to establish a correct diagnosis.
Assuntos
Cistos , Cistos não Odontogênicos , Adulto , Brasil , Cistos/diagnóstico por imagem , Cistos/epidemiologia , Feminino , Humanos , Masculino , Cistos não Odontogênicos/diagnóstico por imagem , Cistos não Odontogênicos/epidemiologia , Patologia Bucal , Encaminhamento e Consulta , Estudos RetrospectivosRESUMO
The term 'vacuum phenomenon' (VP), is characterized by gas-like density areas due to a rapid increase in the joint space volume ('acute VP') or represent a chronic gas collection. It can occur within a collapsed vertebral body, the spinal canal, joints but mainly the intervertebral disc. Studies support that VP is originated by a dynamic process involving the balance between tissues' liquid and gaseous components, influenced by the duration and the depth of mechanical and metabolic alterations, by the nature of neighboring tissues and the variability in both pressure and permeability of disc or vertebral or joint structures. Prevalence of VP in the general population is about 2%, reaching 20% in the elderly with disc degeneration. Although it's often a random finding in asymptomatic patients, VP is an eventually painful expression of disc degeneration, or disc or vertebral fracture, or bone lesions. In sporadic cases, intradiscal gas can be expelled (all-in-one or gradually), resulting in a gaseous cyst, causing pain and neurological symptoms. Considering that spontaneous resolution and recurrence after surgery are both possible, most of the authors recommend conservative treatment in patients with intradiscal and intravertebral VP; occasionally percutaneous CT(computed tomography) -guided aspiration or vertebral stabilization.
Assuntos
Cistos/patologia , Degeneração do Disco Intervertebral/patologia , Disco Intervertebral/patologia , Cistos/diagnóstico por imagem , Cistos/epidemiologia , Gases , Humanos , Disco Intervertebral/anatomia & histologia , Disco Intervertebral/fisiologia , Degeneração do Disco Intervertebral/diagnóstico por imagem , Degeneração do Disco Intervertebral/epidemiologia , VácuoRESUMO
Background/aim: In children with autosomal dominant polycystic kidney disease (ADPKD), clinical manifestations range from severe neonatal presentation to renal cysts found by chance. We aimed to evaluate demographic, clinical, laboratory findings, and genetic analysis of children with ADPKD. Materials and methods: We evaluated children diagnosed with ADPKD between January 2006 and January 2019. The diagnosis was established by family history, ultrasound findings, and/or genetic analysis. The demographic, clinical, and laboratory findings were evaluated retrospectively. Patients <10 years and ≥10 years at the time of diagnosis were divided into 2 groups and parameters were compared between the groups. Results: There were 41 children (M/F: 18/23) diagnosed with ADPKD. The mean age at diagnosis was 7.2 ± 5.1 (0.616.9) years and the follow-up duration was 59.34 ± 40.56 (8198) months. Five patients (12%) were diagnosed as very early onset ADPKD. All patients had a positive family history. Genetic analysis was performed in 29 patients (PKD1 mutations in 21, PKD2 mutations in 1, no mutation in 3). Cysts were bilateral in 35 (85%) of the patients. Only one patient had hepatic cysts. No valvular defect was defined in 12 patients detected. Only 1 patient had hypertension. None of them had chronic kidney disease. No difference could be demonstrated in sex, laterality of the cysts, maximum cyst diameter, cyst or kidney enlargement, follow-up duration, or GFR at last visit between Groups 1 and 2. Conclusion: The majority of children with ADPKD had preserved renal functions and slight cyst enlargement during their follow-up. However, they may have different renal problems deserving closed follow-up.
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Cistos/patologia , Rim/patologia , Imageamento por Ressonância Magnética/métodos , Rim Policístico Autossômico Dominante/genética , Canais de Cátion TRPP/genética , Criança , Pré-Escolar , Cistos/diagnóstico por imagem , Cistos/epidemiologia , Cistos/genética , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Rim/diagnóstico por imagem , Masculino , Rim Policístico Autossômico Dominante/diagnóstico por imagem , Rim Policístico Autossômico Dominante/epidemiologia , Reação em Cadeia da Polimerase em Tempo Real , Estudos RetrospectivosRESUMO
OBJECTIVE: The purpose of this study was to establish prognostic factors in fetuses diagnosed with periventricular pseudocysts (PVPCs) without known congenital infection, between 28 and 37 weeks of gestation. METHODS: This retrospective study included cases of fetal PVPC from 2008 to 2018. PVPCs were classified according to location, number, extension, morphology, and size. Additional findings, MRI and genetic studies were recorded. Pregnancy outcome, postnatal, or postmortem results were obtained. Images from patients with normal (Group 1) and abnormal postnatal development (Group 2) were compared for analysis of factors predictive of outcome. RESULTS: One-hundred and fifteen pseudocysts were observed in 59 patients. In 34 fetuses (57%), the PVPC was an isolated finding. Thirty-nine patients delivered live newborns, 27% opted for termination of pregnancy, and 4 patients were lost to follow-up. Eighty-four percent of the liveborns had normal development. When assessing for the influence of pseudocyst characteristics, a wide CSP, or large head circumference, neither of these affected the outcome. The presence of additional anomalies was the only positive predictor for abnormal development regradless of specific PVPC characteristics (P = .002). CONCLUSIONS: In fetuses with PVPCs, the presence of additional anomalies was the only predictor for adverse postnatal outcome. No association between cystic characteristics and adverse outcome was observed.
Assuntos
Cistos/diagnóstico , Cistos/epidemiologia , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/epidemiologia , Adulto , Cistos/congênito , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/epidemiologia , Humanos , Recém-Nascido , Israel/epidemiologia , Imageamento por Ressonância Magnética , Masculino , Gravidez , Resultado da Gravidez/epidemiologia , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Ultrassonografia Pré-Natal , Adulto JovemRESUMO
BACKGROUND: As the focused assessment with sonography for trauma (FAST) examination becomes increasingly ubiquitous in the emergency department (ED), a parallel increase in incidental findings can also be expected. The purpose of this study was to determine the prevalence, documentation, and communication of incidental findings on emergency physician-performed FAST examinations. METHODS: Retrospective review at two academic EDs. Adult trauma patients undergoing FAST examinations used for clinical decision-making at the bedside were identified from an ED ultrasound image archival system. Expert sonologists reviewed ultrasound images for incidental findings, as well as electronic medical records for demographic information, mechanism of injury, type of incidental findings, documentation of incidental findings, and communication of incidental findings to the patient. RESULTS: A total of 1,452 FAST examinations were reviewed. One hundred and thirty-seven patients with incidental findings were identified (9.4%); 7 patients had an additional incidental finding. Renal cysts were most common (49/144, 34.0%), followed by pelvic cysts in women (32/144, 22.2%). While 31/144 (21.5%) incidental findings were identified and documented in the ultrasound reports or medical records by ED providers, only 6/137 (4.4%) patients were noted to be informed of their incidental findings. CONCLUSION: Incidental findings were often encountered in FAST examinations, with cysts of the kidneys and pelvis being the most common findings. A vast majority of incidental findings were not documented or noted to be communicated to patients, which can be a barrier to follow-up care.
Assuntos
Comunicação , Documentação/estatística & dados numéricos , Avaliação Sonográfica Focada no Trauma , Achados Incidentais , Cistos/diagnóstico , Cistos/epidemiologia , Serviço Hospitalar de Emergência , Feminino , Humanos , Masculino , Prevalência , Estudos RetrospectivosRESUMO
BACKGROUND: Abdominal aortic aneurysms (AAA) primarily affect men over 65 years old who often have many other diseases, with similar risk factors and pathobiological mechanisms to AAA. The aim of this study was to assess the prevalence of simple renal cysts (SRC), chronic kidney disease (CKD), and other kidney diseases (e.g. nephrolithiasis) among patients presenting with AAA. METHODS: Two groups of patients (97 AAA and 100 controls), with and without AAA, from the Surgical Clinic Charité, Berlin, Germany, were selected for the study. The control group consisted of patients who were evaluated for a kidney donation (n = 14) and patients who were evaluated for an early detection of a melanoma recurrence (n = 86). The AAA and control groups were matched for age and sex. Medical records were analyzed and computed tomography scans were reviewed for the presence of SRC and nephrolithiasis. RESULTS: SRC (74% vs. 57%; p<0.016) and CKD (30% vs. 8%; p<0.001) were both more common among AAA than control group patients. On multivariate analysis, CKD, but not SRC, showed a strong association with AAA. CONCLUSIONS: Knowledge about pathobiological mechanisms and association between CKD and AAA could provide better diagnostic and therapeutic approaches for these patients.
Assuntos
Aneurisma da Aorta Abdominal/epidemiologia , Cistos/epidemiologia , Insuficiência Renal Crônica/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Aneurisma da Aorta Abdominal/diagnóstico por imagem , Estudos de Casos e Controles , Angiografia por Tomografia Computadorizada , Cistos/diagnóstico por imagem , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Nefrolitíase/diagnóstico por imagem , Nefrolitíase/epidemiologia , Prevalência , Estudos RetrospectivosRESUMO
Disorders involving follicular occlusion, such as hidradenitis suppurativa, folliculitis, acneiform eruptions, and pilonidal cysts, have shown an increased prevalence in the Down syndrome (DS) population, but there are limited published data examining this association. We conducted a retrospective chart review of 243 DS patients presenting to a pediatric dermatology clinic to further examine the prevalence of disorders of follicular occlusion in DS patients. Our study showed high rates of disorders of follicular occlusion in DS patients, with prevalent disorders including folliculitis (21.0%), keratosis pilaris (17.3%), acne vulgaris (11.1%), hidradenitis suppurativa (7.0%), and furunculosis (4.5%), and overall prevalence of 44.9%. These findings add to a limited but growing body of evidence that documents an increased rate of disorders of follicular occlusion in pediatric DS patients.
Assuntos
Cistos/epidemiologia , Síndrome de Down/epidemiologia , Dermatopatias/epidemiologia , Adolescente , Criança , Pré-Escolar , Cistos/etiologia , Síndrome de Down/complicações , Folículo Piloso , Humanos , Lactente , Recém-Nascido , Masculino , Prevalência , Estudos Retrospectivos , Dermatopatias/etiologia , Texas/epidemiologiaRESUMO
OBJECTIVES: To determine the prevalence and characteristics of erosions associated with parameniscal cysts (PMCs) and to evaluate the profile of the associated meniscal tears MATERIALS AND METHODS: PACS database was reviewed for knee MRI scans performed over a 5-year period identifying those with PMCs in patients aged 18 years and above. The scans with PMCs were evaluated for the presence of associated osseous erosions. These erosions and PMCs were then analyzed. RESULTS: The search revealed 6773 knee MRI examinations, of which 555 had confirmed PMCs. There were 7 PMC-associated erosions for a prevalence of 1.3% (95% CI 0.6, 2.6). All erosions involved the proximal tibia. Three of 7 erosions had underlying marrow edema, and 4 out of 7 had an overhanging margin. The mean dimension of all PMCs was 13 mm (SD = 11). The mean dimension of PMCs associated with erosions was 38 mm (SD = 22), while that of PMCs without erosions was 12 mm (SD = 10) (P < 0.001, Wilcoxon rank sum test). Ninety-three percent (95% CI 90.5, 94.8) of PMCs had associated meniscal tears, most commonly of the horizontal type (57%). All PMCs with underlying erosions were associated with meniscal tears, most commonly complex type tears (5/7). CONCLUSION: Erosions can rarely be associated with contiguous parameniscal cysts (PMCs). These cysts are significantly larger compared with those without underlying erosions.
Assuntos
Cistos , Lesões do Menisco Tibial , Cistos/diagnóstico por imagem , Cistos/epidemiologia , Humanos , Imageamento por Ressonância Magnética , Meniscos Tibiais , PrevalênciaRESUMO
Objective: Pineal cysts are common benign incidental findings in adults. There are no commonly accepted criteria for follow up or indications for intervention. We looked at our outcomes for this condition to explore their natural history and review our surveillance criteria.Method: Retrospective review of multidisciplinary team meetings at a tertiary neurosurgical centre over 10 years. Data relating to demographics, presenting symptoms, maximum diameter, duration of surveillance, final diagnosis and overall outcome were extracted from electronic patient records and available MRI. Data were analysed using IBM SPSS version 24.Result: Seventy-seven pineal cysts were identified. Female to male ratio was 1.43, female mean age was 38.6 and male mean age was 50.4. An increase in referral frequency was observed over the study period (mean increase of 1.4 cases per year). Presenting symptoms of headache in 45% and visual and hearing symptoms in 38.5% were recorded and baseline mean maximum diameter was 13.4mm. 20 patients were discharged on presentation, 54 were booked for at least one follow-up scan with a median follow up period of 14 months. The mean change in maximum diameter was 0.04mm over 18 months. Three patients (3.9%) underwent endoscopic biopsy and CSF diversion for cysts all more than 20mm with radiological evidence of hydrocephalus. In 100% of cases, the initial MDT diagnosis and final diagnosis were concordant.Conclusions: No patient under surveillance required surgical treatment and those managed surgically were symptomatic with large cysts and hydrocephalus on presentation. A majority of pineal cysts remained unchanged during the MRI follow-up, therefore our review suggests that routine follow-up of pineal cysts is not necessary in the absence of unusual radiological characteristics or related clinical symptoms.
Assuntos
Neoplasias Encefálicas , Cistos do Sistema Nervoso Central , Cistos , Glândula Pineal , Adulto , Cistos do Sistema Nervoso Central/diagnóstico por imagem , Cistos do Sistema Nervoso Central/epidemiologia , Cistos/diagnóstico por imagem , Cistos/epidemiologia , Feminino , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/epidemiologia , Hidrocefalia/etiologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Glândula Pineal/diagnóstico por imagem , Glândula Pineal/cirurgia , Estudos RetrospectivosRESUMO
Purpose: To review and summarize the epidemiology, clinical presentations, histopathologic characteristics and management of dacryops.Methods: A comprehensive PubMed, Embase and Google Scholar search of all articles written in English and non-English language articles with abstract translated to English on dacryops were reviewed. Data reviewed included epidemiology, etiology, pathogenesis, clinical presentations, histopathologic characteristics and management of dacryops.Results: Lacrimal ductal cysts or dacryops are classified based on locations: palpebral lobe cysts (simple dacryops); orbital lobe cysts; cysts of the accessory lacrimal glands of Krause and Wolfring; and cysts of ectopic (choristomatous) lacrimal glands. The exact etiology of dacryops remains unknown. Dacryops is usually asymptomatic but can present with varied symptoms depending on the type and associated complications. While complete excision of dacryops is generally recommended, marsupialization is also a safe and effective method for the treatment of dacryops in the palpebral lobe of lacrimal gland. Complete surgical excision via orbitotomy is required for deep orbital lesions.Conclusion: Dacryops is an uncommon benign cystic lacrimal gland tissue neoplasm. Dacryops can be classified into four types based on locations. Lesions could be either superficial that can be seen through the fornix or deep into the orbit. Observation is also an option for small or asymptomatic lesions. Surgery remains the mainstay of treatment for symptomatic cases, but approaches are different depending on the location of the lesions.