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1.
Pediatr Surg Int ; 40(1): 105, 2024 Apr 11.
Artículo en Inglés | MEDLINE | ID: mdl-38602580

RESUMEN

BACKGROUND: Sternal cleft (SC), a rare thoracic malformation, is associated with pectus excavatum (PE) in 2.6-5% of cases. It remains unclear if these conditions are congenitally linked or if SC repair triggers PE. To investigate the potential higher frequency of PE in SC cases, we conducted a retrospective study of our SC patients. METHODS: We assessed PE incidence, progression, and management in SC patients treated at our institute from 2006 to 2022. When available, we collected pre-SC repair CT scan data, calculating the Haller Index (HI) and Correction Index (CI) and compared them to a selected control group. RESULTS: Among 8 SC patients, 7 had concomitant PE (87.5%), varying in severity. PE management ranged from observation to thoracoplasty, depending on its degree. We observed a significant pre-operative CI difference between SC and control group patients (p < 0.00001). In the last two SC repair cases, we attempted concurrent PE prevention or treatment. CONCLUSION: Our findings suggest an underestimated association between PE and SC in the existing literature. SC patients may exhibit a predisposition to PE from birth, which may become more apparent with growth after SC repair. Consequently, PE prevention or treatment should be considered during SC repair procedures.


Asunto(s)
Tórax en Embudo , Anomalías Musculoesqueléticas , Esternón/anomalías , Humanos , Tórax en Embudo/complicaciones , Tórax en Embudo/diagnóstico por imagen , Tórax en Embudo/epidemiología , Estudios Retrospectivos , Anomalías Musculoesqueléticas/diagnóstico por imagen , Anomalías Musculoesqueléticas/epidemiología , Anomalías Musculoesqueléticas/cirugía , Genotipo
2.
Am J Med Genet A ; 185(6): 1822-1835, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33765349

RESUMEN

Monozygotic (MZ) twins ("identical twins") are essentially unique to human beings. Why and how they arise is not known. This article reviews the possible different types of MZ twinning recognized in the previous article on twins and arthrogryposis. There appear to be at least three subgroups of MZ twinning: spontaneous, familial, and those related to artificial reproductive technologies. Each is likely to have different etiologies and different secondary findings. Spontaneous MZ twinning may relate to "overripe ova." Amyoplasia, a specific nongenetic form of arthrogryposis, appears to occur in spontaneous MZ twinning and may be related to twin-twin transfusion.


Asunto(s)
Artrogriposis/genética , Transfusión Feto-Fetal/genética , Anomalías Musculoesqueléticas/genética , Gemelización Monocigótica/genética , Artrogriposis/complicaciones , Artrogriposis/epidemiología , Artrogriposis/patología , Enfermedades en Gemelos/epidemiología , Enfermedades en Gemelos/genética , Enfermedades en Gemelos/patología , Femenino , Transfusión Feto-Fetal/complicaciones , Transfusión Feto-Fetal/epidemiología , Transfusión Feto-Fetal/patología , Humanos , Recién Nacido , Masculino , Anomalías Musculoesqueléticas/complicaciones , Anomalías Musculoesqueléticas/epidemiología , Anomalías Musculoesqueléticas/patología , Embarazo , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética
3.
Am J Med Genet A ; 185(5): 1486-1493, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33683002

RESUMEN

The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the skin and musculoskeletal system, and variable neurodevelopmental challenges. The most common cardiovascular abnormalities include pulmonary valvular stenosis and hypertrophic cardiomyopathy. Congenital polyvalvular disease (CPVD) refers to congenital dysplasia of two or more cardiac valves. We diagnosed a RASopathy in two individuals with CPVD and noted that CPVD in RASopathies has rarely been reported in the literature. Thus, we performed a retrospective chart review and literature review to investigate the association and characterize the phenotype of CPVD in the RASopathies. CPVD was present in 2.5% (n = 6/243) of individuals in our RASopathy cohort. Involvement of two cardiac valves, commonly the aortic and pulmonic valves, was seen in the majority of individuals (6/8; 75%) in our cohort, but only 27% (3/11) of reported CPVD and RASopathy cases in the literature. CPVD should be considered an associated cardiovascular phenotype of the RASopathies, which has implications for diagnosis and management.


Asunto(s)
Cardiomiopatía Hipertrófica/genética , Proteína Tirosina Fosfatasa no Receptora Tipo 11/genética , Proteínas Proto-Oncogénicas B-raf/genética , Estenosis de la Válvula Pulmonar/genética , Adolescente , Válvula Aórtica/patología , Cardiomiopatía Hipertrófica/epidemiología , Cardiomiopatía Hipertrófica/patología , Anomalías Cardiovasculares/epidemiología , Anomalías Cardiovasculares/genética , Anomalías Cardiovasculares/patología , Niño , Preescolar , Enanismo/genética , Enanismo/patología , Facies , Femenino , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/patología , Humanos , Lactante , Recién Nacido , Masculino , Anomalías Musculoesqueléticas/epidemiología , Anomalías Musculoesqueléticas/genética , Anomalías Musculoesqueléticas/patología , Síndrome de Noonan , Fenotipo , Estenosis de la Válvula Pulmonar/epidemiología , Estenosis de la Válvula Pulmonar/patología , Anomalías Cutáneas/genética , Anomalías Cutáneas/patología , Proteínas ras/genética
4.
J Fish Dis ; 44(6): 665-673, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33400822

RESUMEN

Extreme environmental conditions, such as temperature, can lead to meristic trait variation and skeletal deformities, which may have major impacts on individual fitness. As intertidal ecosystems experience rapid temperature and physicochemical fluctuations, intertidal fish living and reproducing in these environmental conditions may have phenotypes influenced by such variable environments. The impact of intertidal variability on fish development, however, has not been previously investigated. Skeletal deformities and meristic traits were assessed for Bathygobius cocosensis, a common intertidal fish living across the Indo-Pacific region, using a clearing and staining method on 72 individuals. Over 87% of individuals presented meristic variation and over 70% exhibited at least one type of skeletal deformity, mostly recorded in the caudal fin area. The unexpected prevalence of skeletal deformities among this intertidal fish population suggests that such deformities may be suitable markers to evaluate an individual's stress exposure during development and the subsequent fitness effects.


Asunto(s)
Peces/anatomía & histología , Esqueleto/anatomía & histología , Animales , Enfermedades de los Peces/epidemiología , Enfermedades de los Peces/etiología , Peces/anomalías , Calentamiento Global , Anomalías Musculoesqueléticas/epidemiología , Anomalías Musculoesqueléticas/etiología , Anomalías Musculoesqueléticas/veterinaria , Nueva Gales del Sur/epidemiología , Perciformes/anomalías , Perciformes/anatomía & histología , Fenotipo , Esqueleto/anomalías , Temperatura
5.
Surg Radiol Anat ; 43(5): 741-748, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33123771

RESUMEN

OBJECTIVES: The tendon of the palmaris longus is commonly used as a tendon graft in many reconstructive surgeries. Palmaris longus absence (PLA) was found in 15% among individuals worldwide. In this prospective study, we aimed to conduct an incidence study in which physical examination methods were confirmed by ultrasonography in PLA, and to evaluate the relationship of absence with age, gender, laterality and dominant hand. METHODS: The study included 490 cases. They were initially tested to evaluated by physical examination using the Schaeffer's and Hiz-Ediz test for the assessment of the palmaris longus tendon. Additional ultrasonography was performed to confirm its absence in 129 wrists of 78 cases whose tendons could not be visualized or palpated. RESULTS: The incidence of tendon absence was 13% by physical examination methods. According to the final results when we added ultrasonography to physical examination methods, the incidence of unilateral, bilateral and overall absence of the palmaris longus were 5%, 9% and 11% respectively. There was no statistically significant difference between individuals with and without PLA in terms of gender, side, age and dominant hand (p = 0.796, p = 0.622, p = 0.397 and p = 0.187, respectively). However, bilateral PLA was statistically significantly higher than unilateral in both genders (p = 0.011). CONCLUSIONS: We think that agenesis should be proven accurately by ultrasonographic examination for the final result before any surgical procedure with palmaris longus tendon. Furthermore measuring the diameter of the palmaris longus tendon by preoperative ultrasonography can be useful for surgeons who plan a procedure that requires specific measurements.


Asunto(s)
Músculo Esquelético/anomalías , Anomalías Musculoesqueléticas/epidemiología , Tendones/anomalías , Muñeca/anomalías , Adolescente , Adulto , Factores de Edad , Estudios de Factibilidad , Femenino , Hormonas Esteroides Gonadales , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/fisiopatología , Músculo Esquelético/cirugía , Anomalías Musculoesqueléticas/diagnóstico , Anomalías Musculoesqueléticas/fisiopatología , Anomalías Musculoesqueléticas/cirugía , Examen Físico/estadística & datos numéricos , Periodo Preoperatorio , Estudios Prospectivos , Factores de Riesgo , Tendones/diagnóstico por imagen , Tendones/fisiopatología , Tendones/cirugía , Ultrasonografía/estadística & datos numéricos , Muñeca/diagnóstico por imagen , Muñeca/fisiopatología , Muñeca/cirugía , Adulto Joven
6.
Am J Med Genet A ; 182(5): 953-956, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32128942

RESUMEN

Wiedemann-Steiner syndrome (WWS) is a rare disorder characterized by hypotonia, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of WWS with syndromes caused by genes involved in chromatin remodeling. We describe an infant with a novel single base pair deletion in KMT2A with features consistent with WWS, as well as additional features of stenosis of aqueduct of Sylvius and broad toes. The usefulness of Face2Gene as a tool for identification of dysmorphology syndromes is discussed, as in this patient, it suggested WWS as the top candidate disorder. To the best of our knowledge, this is the first patient of WWS reported from India, with a novel genotype and expanded phenotype.


Asunto(s)
Anomalías Múltiples/genética , Contractura/genética , Trastornos del Crecimiento/genética , N-Metiltransferasa de Histona-Lisina/genética , Discapacidad Intelectual/genética , Microcefalia/genética , Anomalías Musculoesqueléticas/genética , Proteína de la Leucemia Mieloide-Linfoide/genética , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/epidemiología , Anomalías Múltiples/fisiopatología , Contractura/diagnóstico , Contractura/epidemiología , Contractura/fisiopatología , Facies , Femenino , Genotipo , Trastornos del Crecimiento/diagnóstico , Trastornos del Crecimiento/epidemiología , Trastornos del Crecimiento/fisiopatología , Heterocigoto , Humanos , India/epidemiología , Lactante , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/fisiopatología , Masculino , Microcefalia/diagnóstico , Microcefalia/epidemiología , Microcefalia/fisiopatología , Anomalías Musculoesqueléticas/diagnóstico , Anomalías Musculoesqueléticas/epidemiología , Anomalías Musculoesqueléticas/fisiopatología , Mutación/genética , Fenotipo
7.
Niger Postgrad Med J ; 27(3): 237-241, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32687125

RESUMEN

CONTEXT: Although congenital hand anomalies are among the more common musculoskeletal anomalies worldwide, we do not know its prevalence in our practice. AIMS: The aim of the study was to determine the pattern of congenital hand anomalies presenting to our tertiary plastic surgery outpatient service in South-Western Nigeria. MATERIALS AND METHODS: This is a cross-sectional retrospective analysis of outpatient cases of congenital hand anomalies presenting over a 10-year period. Descriptive and inferential statistics were performed using frequencies, Student's t-test and Chi-square as appropriate. The data were analysed using IBM SPSS Statistics 23.0. The statistical significance value was set at P < 0.05. RESULTS: One hundred and twenty-two cases were identified. The highest number of cases was seen in the year 2012, 23 patients (19.3%). There was a male preponderance of 66 patients (55.1%). Thirty-two patients (26.2%) presented as neonates and 36 (29.5%) as infants. Bilateral anomalies were seen in 67 patients (54.9%). The most common anomaly was failure of differentiation, 88 patients (72.1%) followed by duplication, 26 patients (21.3%). Syndactyly with 43 patients (35.2%) was the most common anomaly under failure of differentiation. No significant associations were found between the type of anomaly and gender or laterality. CONCLUSIONS: Syndactyly was the most common congenital hand anomaly in this study. There was a preponderance of bilateral involvement in both syndactyly and polydactyly.


Asunto(s)
Deformidades Congénitas de la Mano/diagnóstico , Deformidades Congénitas de la Mano/cirugía , Procedimientos de Cirugía Plástica/estadística & datos numéricos , Polidactilia/diagnóstico , Polidactilia/cirugía , Servicio de Cirugía en Hospital/estadística & datos numéricos , Sindactilia/diagnóstico , Sindactilia/cirugía , Adolescente , Adulto , Distribución por Edad , Niño , Preescolar , Estudios Transversales , Deformidades Congénitas de la Mano/epidemiología , Humanos , Lactante , Recién Nacido , Masculino , Anomalías Musculoesqueléticas/epidemiología , Nigeria/epidemiología , Polidactilia/epidemiología , Estudios Retrospectivos , Distribución por Sexo , Cirugía Plástica , Sindactilia/epidemiología , Adulto Joven
8.
J Pediatr Orthop ; 39(8): e608-e613, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31393300

RESUMEN

BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. OUTCOME MEASURES: Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. RESULTS: Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. CONCLUSIONS: Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating perioperative complications if not detected preoperatively, and full MRI workups should be considered in all patients with spinal abnormalities. LEVEL OF EVIDENCE: Level III.


Asunto(s)
Defectos del Tabique Interatrial/epidemiología , Atresia Intestinal/epidemiología , Anomalías Musculoesqueléticas/epidemiología , Defectos del Tubo Neural/epidemiología , Escoliosis/epidemiología , Columna Vertebral/anomalías , Adolescente , Niño , Preescolar , Comorbilidad , Anomalías Congénitas/epidemiología , Bases de Datos Factuales , Humanos , Incidencia , Lactante , Recién Nacido , Intestino Grueso/anomalías , Riñón/anomalías , Enfermedades Renales/congénito , Enfermedades Renales/epidemiología , Síndrome de Klippel-Feil/epidemiología , Prevalencia , Estudios Retrospectivos , Adulto Joven
9.
Fetal Diagn Ther ; 46(6): 368-375, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30970358

RESUMEN

OBJECTIVES: We aimed to determine the incidence of the absence of the (last) 12th ribs in a population in a setting of detailed 2nd-trimester sonography using three-dimensional (3D) ultrasound and to assess whether or not this may be related to chromosomal aneuploidies. METHODS: Prospectively, we counted fetal ribs for the absence of the (last) 12th ribs in singleton pregnancies of women who presented to our clinic for detailed 2nd-trimester sonography. The assessment was carried out using 3D ultrasound. Volume data sets were acquired with the 3D skeleton mode using the maximum intensity with X-ray-weighted rendering. If the 3D skeleton mode was not sufficient, volume contrast imaging with the OmniView bone mode was used. RESULTS: The fetal ribs could be visualized in 97.01% of the 1,943 fetuses examined between 20 and 23 weeks' gestation. Timing the examination at 21, 22, or 23 weeks was found to be more successful than conducting it at 20 weeks. Twelfth ribs were found to be absent in 33 fetuses; 16 fetuses had 11 ribs unilaterally and 17 had so bilaterally. None of them had chromosomal abnormalities. Associated anomalies were present in 6 fetuses (18.2%); 2 of the anomalies were major and 4 minor. CONCLUSION: The incidence of absent 12th ribs in this mixed population was 1.75%. In the absence of additional anomalies, the prognosis is favorable.


Asunto(s)
Anomalías Musculoesqueléticas/diagnóstico por imagen , Costillas/diagnóstico por imagen , Ultrasonografía Prenatal , Adulto , Femenino , Humanos , Imagenología Tridimensional , Incidencia , Anomalías Musculoesqueléticas/epidemiología , Valor Predictivo de las Pruebas , Embarazo , Resultado del Embarazo , Segundo Trimestre del Embarazo , Estudios Prospectivos , Costillas/anomalías , Turquía/epidemiología , Adulto Joven
10.
Niger Postgrad Med J ; 26(4): 239-243, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31621665

RESUMEN

BACKGROUND: Congenital anomalies (CAs) refer to defects that are present in a newborn but occurred during intrauterine life. They can be due to genetic, modifiable environmental or multifactorial causes. There was no prior report of their burden in our state. AIMS: This study aims to describe the incidence, spectrum, predisposing factors and outcome of CAs in our setting. METHODS: It was a total population study of all neonates with major birth defects admitted into the unit during the study period. Their clinical-demographic features, diagnoses and outcome were entered into an excel sheet. Clinical detection of birth defects was based on standard diagnostic criteria. The data were analysed using IBM SPSS Statistics for Windows, Version 20.0. Armonk, NY: IBM Corp. Patterns and outcome of birth defects were presented as proportions. Selected characteristics were tested for possible association with birth defect using Fisher's exact test. The level of significance was set at P < 0.05. RESULTS: The incidence of major CAs was 4.3/1000 live births. Female neonates were more affected (59.0%). Participants' mean gestational age was 37.7 ± 3.3 weeks. Central nervous system anomalies were the most common (38.5%) birth defects. These were followed by musculoskeletal, body wall and digestive system anomalies: 28.2%, 23.1% and 10.3%, respectively. One-third (33.3%) of the infants had multiple anomalies. Nearly three quarters of them (74.0%) were referred, 18.0% died while 5.0% were discharged alive. CONCLUSION: A wide range of CAs occur in our setting with dire consequences. Provision of relevant specialised multidisciplinary care is desirable. Furthermore, pubic enlightenment on its modifiable possible causes can reduce the burden.


Asunto(s)
Sistema Nervioso Central/anomalías , Anomalías Congénitas/epidemiología , Unidades de Cuidado Intensivo Neonatal/estadística & datos numéricos , Población Negra , Niño , Anomalías Congénitas/clasificación , Estudios Transversales , Anomalías del Sistema Digestivo/epidemiología , Femenino , Edad Gestacional , Humanos , Incidencia , Lactante , Recién Nacido , Anomalías Musculoesqueléticas/epidemiología , Nigeria/epidemiología
11.
BMC Pediatr ; 18(1): 175, 2018 05 25.
Artículo en Inglés | MEDLINE | ID: mdl-29801440

RESUMEN

BACKGROUND: A quarter of all global neonatal deaths occur in India. Congenital anomalies constitute the fifth largest cause of neonatal mortality in the country, but national estimates of the prevalence of these conditions are lacking. The objective of the study was to derive an estimate of the birth prevalence of congenital anomalies in India. METHODS: The search was carried out in PubMed and pooled prevalence was estimated using the inverse variance method. A random effects model was used due to high heterogeneity between the studies. Forest plots were generated using the Review Manager software. RESULTS: The PubMed search identified 878 articles from which 52 hospital based and three community based studies were included in the meta-analysis. The pooled prevalence of congenital anomaly affected births was 184.48 per 10,000 births (95% CI 164.74-204.21) among 802,658 births. Anomalies of the musculoskeletal system were highest among live births while the prevalence of central nervous system defects was highest when stillbirths were included in the analysis. Anencephaly and talipes were the most commonly reported anomalies. CONCLUSIONS: Data from this meta-analysis suggests that there may be as many as 472,177 (421,652 to 522,676) congenital anomaly affected births in India each year. Population based studies using standard definitions are needed to validate these estimates. The two most frequently reported anomalies were anencephaly that is potentially preventable through preconception folate supplementation, and talipes which can be corrected using relatively low cost interventions. Studies are needed to determine the impact of congenital anomalies on neonatal mortality in India.


Asunto(s)
Anomalías Congénitas/epidemiología , Anencefalia/epidemiología , Sistema Nervioso Central/anomalías , Humanos , India/epidemiología , Recién Nacido , Anomalías Musculoesqueléticas/epidemiología , Prevalencia , Mortinato/epidemiología , Pie Zambo/epidemiología
12.
Eur Spine J ; 27(1): 187-193, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-27864680

RESUMEN

PURPOSE: The purpose of this study was to investigate whether transitional vertebrae contribute to the development of sacroiliac joint dysfunction. The prevalence of transitional vertebrae in patients with lumbar pain was determined during this process, and the prevalence of sacroiliac dysfunction was compared between patients with low back pain and healthy volunteers. METHODS: 700 subjects, 500 with low back pain and 200 healthy volunteers were included in this study. Five tests were applied to all participants to determine sacroiliac joint dysfunction. Positivity in three tests was regarded as dysfunction. Lateral lumbosacral and Ferguson angle X-rays were taken from the group with low back pain. The patient was evaluated a specialist radiologist in terms of presence or absence of transitional vertebrae, and if identified, what type. RESULTS: Transitional vertebrae were determined in 26% (n = 130) of the patients with low back pain. Type 1a was determined in 20%, type 1b in 10%, type 2a in 26.9%, type 2b in 30.8%, type 3a in 0.8%, type 3b in 4.6% and type 4 in 6.9%. The prevalence of sacroiliac joint dysfunction in the low back pain group (15.4%) and the prevalence of sacroiliac joint dysfunction in cases of transitional vertebra (28.5%) were significantly higher compared to the control groups (p < 0.05). CONCLUSION: Sacroiliac joint dysfunction must be considered when investigating the etiology of low back pain. Particular sensitivity must be exhibited on this subject in patients with transitional vertebrae.


Asunto(s)
Dolor de la Región Lumbar/etiología , Anomalías Musculoesqueléticas/epidemiología , Articulación Sacroiliaca/fisiopatología , Enfermedades de la Columna Vertebral/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Región Lumbosacra/anomalías , Región Lumbosacra/fisiopatología , Masculino , Persona de Mediana Edad , Anomalías Musculoesqueléticas/complicaciones , Prevalencia , Enfermedades de la Columna Vertebral/complicaciones , Adulto Joven
13.
J Hand Surg Am ; 43(5): 455-463, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29602650

RESUMEN

Despite their relatively low prevalence in the population, anomalous muscles of the forearm may be encountered by nearly all hand and wrist surgeons over the course of their careers. We discuss 6 of the more common anomalous muscles encountered by hand surgeons: the aberrant palmaris longus, anconeus epitrochlearis, palmaris profundus, flexor carpi radialis brevis, accessory head of the flexor pollicis longus, and the anomalous radial wrist extensors. We describe the epidemiology, anatomy, presentation, diagnosis, and treatment of patients presenting with an anomalous muscle. Each muscle often has multiple variations or subtypes. The presence of most anomalous muscles is difficult to diagnose based on patient history and examination alone, given that symptoms may overlap with more common pathologies. Definitive diagnosis typically requires soft tissue imaging or surgical exploration. When an anomalous muscle is present and symptomatic, it often requires surgical excision for symptom resolution.


Asunto(s)
Antebrazo/anatomía & histología , Músculo Esquelético/anomalías , Humanos , Anomalías Musculoesqueléticas/diagnóstico , Anomalías Musculoesqueléticas/epidemiología , Examen Físico
14.
Surg Radiol Anat ; 40(10): 1141-1145, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29974181

RESUMEN

PURPOSE: The subclavius posticus muscle (SPM) is an aberrant muscle, and the presence of the SPM has a clinical significance, since the SPM might lead to thoracic outlet syndrome (TOS). To date, no radiological study has been evaluated the prevalence of the SPM in the adult population. In this study, we aimed to assess the prevalence of the SPM using magnetic resonance imaging (MRI). METHODS: We retrospectively reviewed brachial plexus, neck, and thoracic MRI of the patients who underwent MRI for various pathologies. Only the patients whose MRI examinations did not have sufficient image quality and the patients who had any pathology that directly involved the thoracic outlet region were excluded from the study. The observers assessed images in the coronal plane to detect the presence of the SPM. The thickness of the muscle and the distance between the SPM and brachial plexus were also noted. RESULTS: MRI examinations of 350 patients, 174 males and 176 females, were evaluated. SPM was detected in 29 patients (8.3%). In 6 patients (1.7%), we identified bilateral SPM. The mean thickness of the muscle was 6.10 ± 1.60 mm (range 2.5-10 mm). In 21 sides (60%), the brachial plexus and SPM were touching each other. In the remaining 14 sides (40%), the mean distances between the SPM and brachial plexus were 2.32 ± 0.62 mm (range from 1.7 to 3.6 mm). CONCLUSIONS: We conducted the first radiological study that evaluated the prevalence of the SPM, and we also assessed the thickness of the SPM and the distance between the SPM and brachial plexus. We highlight that our study might be accounted as a first step for future studies to assess the role of the SPM in TOS.


Asunto(s)
Músculo Esquelético/anomalías , Anomalías Musculoesqueléticas/epidemiología , Síndrome del Desfiladero Torácico/etiología , Adulto , Plexo Braquial/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/inervación , Anomalías Musculoesqueléticas/complicaciones , Anomalías Musculoesqueléticas/diagnóstico por imagen , Cuello/diagnóstico por imagen , Músculos Pectorales , Prevalencia , Estudios Retrospectivos
15.
Clin Genet ; 92(2): 166-171, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-27925162

RESUMEN

The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (five from Africa and five from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for 'clearly dysmorphic', 0 for 'clearly non dysmorphic' or 1 for 'uncertain'. The inter-rater agreement was determined using kappa coefficient. There was only fair agreement between African and European raters (kappa-coefficient = 0.29). Second, we applied the FDNA Face2Gene solution to assess Down Syndrome (DS) faces. Initially, Face2Gene showed a better recognition rate for DS in Caucasian (80%) compared to African (36.8%). We trained the Face2Gene with a set of African DS and non-DS photographs. Interestingly, the recognition in African increased to 94.7%. Thus, training improved the sensitivity of Face2Gene. Our data suggest that human based evaluation is influenced by ethnic background of the evaluator. In addition, computer based evaluation indicates that the ethnic of the patient also influences the evaluation and that training may increase the detection specificity for a particular ethnic.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Craneofaciales/diagnóstico , Síndrome de Down/diagnóstico , Procesamiento de Imagen Asistido por Computador , Discapacidad Intelectual/diagnóstico , Atrofia Muscular/diagnóstico , Anomalías Múltiples/epidemiología , Anomalías Múltiples/fisiopatología , Adolescente , Adulto , Población Negra , Niño , Preescolar , Anomalías Craneofaciales/epidemiología , Anomalías Craneofaciales/fisiopatología , Síndrome de Down/epidemiología , Síndrome de Down/fisiopatología , Cara/diagnóstico por imagen , Cara/fisiopatología , Femenino , Humanos , Lactante , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/fisiopatología , Masculino , Atrofia Muscular/epidemiología , Atrofia Muscular/fisiopatología , Anomalías Musculoesqueléticas/diagnóstico , Anomalías Musculoesqueléticas/epidemiología , Anomalías Musculoesqueléticas/fisiopatología , Población Blanca , Adulto Joven
16.
J Am Acad Dermatol ; 77(5): 874-878, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28822558

RESUMEN

BACKGROUND: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor. OBJECTIVE: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM). METHODS: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor. Patients younger than 8 years of age at their last visit and not seen in more than 2 years were contacted for follow-up. RESULTS: The study comprised 89 patients: 67 with DCMO, 17 with M-CM, and 5 with an indeterminate diagnosis. No case of Wilms tumor was found in these groups. LIMITATIONS: Some patients were younger than 8 years of age at last follow-up visit and the sample size was small. CONCLUSION: Patients with DCMO do not appear to be at increased risk for Wilms tumor. Screening is probably unnecessary in DCMO unless there is associated hemihypertrophy. Although there were no cases in our cohort, there are 2 reports of M-CM associated with Wilms tumor in the literature.


Asunto(s)
Anomalías Múltiples/epidemiología , Capilares/anomalías , Neoplasias Renales/epidemiología , Megalencefalia/epidemiología , Enfermedades Cutáneas Vasculares/epidemiología , Telangiectasia/congénito , Malformaciones Vasculares/epidemiología , Tumor de Wilms/epidemiología , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/patología , Distribución por Edad , Capilares/diagnóstico por imagen , Capilares/patología , Preescolar , Estudios de Cohortes , Comorbilidad , Bases de Datos Factuales , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Lactante , Recién Nacido , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/patología , Lipoma/diagnóstico por imagen , Lipoma/epidemiología , Lipoma/patología , Imagen por Resonancia Magnética , Masculino , Megalencefalia/diagnóstico por imagen , Megalencefalia/patología , Anomalías Musculoesqueléticas/diagnóstico por imagen , Anomalías Musculoesqueléticas/epidemiología , Anomalías Musculoesqueléticas/patología , Tamizaje Neonatal , Nevo/diagnóstico por imagen , Nevo/epidemiología , Nevo/patología , Enfermedades Raras , Estudios Retrospectivos , Medición de Riesgo , Índice de Severidad de la Enfermedad , Distribución por Sexo , Enfermedades Cutáneas Vasculares/diagnóstico por imagen , Enfermedades Cutáneas Vasculares/patología , Telangiectasia/diagnóstico por imagen , Telangiectasia/epidemiología , Telangiectasia/patología , Factores de Tiempo , Malformaciones Vasculares/diagnóstico por imagen , Malformaciones Vasculares/patología , Tumor de Wilms/diagnóstico por imagen , Tumor de Wilms/patología
17.
Surg Today ; 47(7): 872-876, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28028638

RESUMEN

PURPOSE: To investigate the long-term morbidity of surgically treated esophageal atresia (EA) in adolescents and young adults and establish whether these long-term morbidities are affected by the type of EA. PATIENTS AND METHODS: We reviewed the medical records, including backgrounds and associated conditions, of 69 long-term survivors of EA, aged >15 years. The long-term morbidities included neurodevelopmental abnormality, nutritional impairment (short height <-2SD, low BMI <18.5), subjective symptoms, and musculoskeletal deformities. Comparisons of the results were made between Gross A-type EA (n = 6) and Gross C-type EA (n = 63). RESULTS: All patients underwent esophageal anastomosis without esophageal replacement. Cardiac anomalies and long gap were present in 26 and 18%, respectively. Esophageal dilatation, fundoplication, and aortopexy were performed in 40, 34, and 18%, respectively. The incidence of long gap and esophageal stenosis was higher in Gross A-type EA than in Gross C-type EA. The long-term morbidities included neurodevelopmental abnormality (13%), nutritional impairment (62%: as short height in 34% and as low BMI in 46%), subjective symptoms (14%), and musculoskeletal deformities (59%). There were no differences in the long-term morbidities between Gross A and Gross C. CONCLUSIONS: The incidence of the long-term morbidities is high in adolescents and young adults, regardless of the type of EA. Early detection of morbidity is important to improve the long-term outcomes of EA.


Asunto(s)
Procedimientos Quirúrgicos del Sistema Digestivo , Atresia Esofágica/epidemiología , Atresia Esofágica/cirugía , Anomalías Musculoesqueléticas/epidemiología , Trastornos del Neurodesarrollo/epidemiología , Trastornos Nutricionales/epidemiología , Adolescente , Anastomosis Quirúrgica , Atresia Esofágica/clasificación , Femenino , Fundoplicación , Cardiopatías Congénitas/epidemiología , Humanos , Incidencia , Masculino , Morbilidad , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
18.
Pediatr Surg Int ; 33(8): 875-882, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28612139

RESUMEN

PURPOSE: This study was undertaken to investigate the types of anorectal malformations (ARM), incidence of associated abnormalities and investigative methods used in patients treated at Red Cross War Memorial Children's Hospital and to determine whether these are in keeping with recent literature. Mortality rates were also reviewed. METHODS: A retrospective review of patients with ARM between 1993 and 2016 was undertaken. Clinical notes were reviewed and correlated with radiology and cardiac databases. Abnormalities were grouped according to genitourinary, musculoskeletal, gastrointestinal and cardiovascular systems. The data were separated into three periods to ascertain whether the workup strategy had changed over the years. RESULTS: A total of 282 patients were included. There were 134 (47.5%) high and 116 (41.1%) low lesions and unspecified in 32 (11.3%) patients. There were 59 (20.9%) vestibular fistulae, 46 (16.3%) combined rectourethral fistulae (rectoprostatic, rectobulbar and unspecified rectourethral) and 42 (14.9%) perineal fistulae. Associated abnormalities were detected in 152/221 (69%). Abnormalities were: Genitourinary 88/204 (43.1%), musculoskeletal 80/188 (42.5%), cardiac 44/218 (20.1%) and gastrointestinal 12/216 (5.6%). Twenty patients demised. CONCLUSION: Vestibular fistulae were most common followed by rectourethral and perineal fistulae. Musculoskeletal and genitourinary abnormalities were the most common associated findings. The mortality rate was 7% and cardiac lesions contributed to mortality. As knowledge of ARM improved, so has awareness of associated malformations. This has led to improved, more active workup, in keeping with the latest literature.


Asunto(s)
Anomalías Múltiples/epidemiología , Malformaciones Anorrectales/epidemiología , Anomalías Cardiovasculares/epidemiología , Tracto Gastrointestinal/anomalías , Anomalías Musculoesqueléticas/epidemiología , Anomalías Urogenitales/epidemiología , Preescolar , Comorbilidad , Femenino , Humanos , Incidencia , Lactante , Masculino , Estudios Retrospectivos , Sudáfrica/epidemiología
19.
Surg Radiol Anat ; 39(4): 427-432, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27743001

RESUMEN

PURPOSE: Our aim was to identify the incidence and distribution of sesamoid bones plantar to the metatarsophalangeal (MTP) joints in adults, and to evaluate patterns of coincidence among these sesamoid bones. METHODS: We conducted a retrospective review of 7949 plain radiographs obtained from patients evaluated for foot trauma or symptomology. Associations between the distributions of MTP sesamoid bones as well as the association of age, sex, and laterality with identified prevalence, distribution, and coincidence were evaluated using Spearman's correlation coefficient. RESULTS: Overall, 17,060 sesamoid bones were identified for 9005 MTP joints, with 16 distinctive distribution patterns. Among possible patterns, we identified a prevalence rate of complete absence of MTP sesamoid of 0.04 %, of a single sesamoid at the hallux of 89.08 % of radiographs; and of sesamoid at ≥2 MTP joints of 10.88 %. The presence of a sesamoid at the hallux was consistent, and was not correlated with the presence or absence of a sesamoid bone at one of the other MTP joints (P > 0.05). However, there was a positive correlation between the presence and absence of sesamoid bones at any two of the other four MTP joints (P < 0.001). Age was positively correlated with both the total number of sesamoids present (P < 0.001) and the number of MTP joints with sesamoids (P < 0.001). CONCLUSIONS: Information from this study would assist clinicians in the diagnosis of patients presenting with pain and discomfort of the foot after trauma and overuse, as well as contribute a robust data set for research in forensic science and anthropology.


Asunto(s)
Variación Anatómica , Huesos Metatarsianos/anomalías , Articulación Metatarsofalángica/anomalías , Anomalías Musculoesqueléticas/epidemiología , Huesos Sesamoideos/anatomía & histología , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Incidencia , Masculino , Huesos Metatarsianos/diagnóstico por imagen , Articulación Metatarsofalángica/diagnóstico por imagen , Persona de Mediana Edad , Prevalencia , Radiografía , Estudios Retrospectivos , Huesos Sesamoideos/diagnóstico por imagen , Factores Sexuales , Adulto Joven
20.
Surg Radiol Anat ; 39(3): 293-297, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-27515304

RESUMEN

PURPOSE: The aim of the present study was to investigate the prevalence of ponticulus posticus among patients with dental Angle class I, II, and III malocclusions in Middle Anatolian population. METHODS: A total of 1246 cephalometric radiographs were examined in a 6 months period. Each patient was assigned an identification number, and demographic information, absence/presence of PP, if present, type of PP and type of dental malocclusion were recorded by two observers. In cases where there was any disagreement, a third observer was consulted. Distributions of obtained values were analysed using Pearson's Chi-square test. RESULTS: The mean age of subjects was 20.98 ± 6.95 years (range 10-39). In the analysed sample, PP had a prevalence of 18.8 % (complete form 9.6 %, incomplete form 9.2 %). There was a significant difference between genders (p = 0.002) (more prevalent in male patients: 119/522; 23 %). No significant difference was found between age groups (p > 0.05). PP was most frequently detected in Angle class III patients (78/351; 22.2 %) but there was no significant difference between malocclusion groups (p > 0.05). CONCLUSION: In the present study, PP is found to be a relatively common anomaly in patients with dental malocclusions. Although Angle class III patients showed a higher frequency of PP, statistically no significant difference was found among dental malocclusion groups.


Asunto(s)
Atlas Cervical/anomalías , Maloclusión/complicaciones , Anomalías Musculoesqueléticas/complicaciones , Adolescente , Adulto , Factores de Edad , Cefalometría/métodos , Atlas Cervical/diagnóstico por imagen , Niño , Femenino , Humanos , Masculino , Maloclusión/diagnóstico por imagen , Maloclusión/epidemiología , Anomalías Musculoesqueléticas/diagnóstico por imagen , Anomalías Musculoesqueléticas/epidemiología , Prevalencia , Radiografía , Factores Sexuales , Turquía/epidemiología , Adulto Joven
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