Prevalence of papillary muscle hypertrophy in fabry disease.

BACKGROUND AND AIMS: Fabry disease (FD) is an X-linked genetic lysosomal disease, in which a deficit in the alpha-galactosidase A enzyme results in lysosomal build-up of globotriaosylceramide in several organs, causing cardiac, renal and cerebrovascular complications. The aim of this study was to assess the prevalence of papillary muscle hypertrophy (PMH) in patients with FD. METHODS: A group of 63 patients with FD and a positive genetic diagnosis were studied and were divided into two groups: one included 24 patients with FD and LVH and another group included 39 patients with FD and without LVH. Papillary muscles were measured from the left parasternal short axis view, defining PMH as a diastolic thickness greater than 11 mm in any diameter. RESULTS: Patients with FD and LVH had a high prevalence of anterolateral PMH (66.6%), and such prevalence was lower for the posteromedial PMH (33.3%). However, patients who had not yet developed LVH had a high prevalence of anterolateral PMH (33.3%). CONCLUSIONS: Patients with FD in the pre-clinical stage (without LVH) have a high prevalence of PMH, especially involving the anterolateral papillary muscle. This finding could be an early marker for the development of LVH, allowing to suspect the disease during its early stages, and begin enzyme replacement therapy in the appropriate patients.

The Prevalence of Adenoid Hypertrophy among Children with Zika Related Microcephaly.

Upper respiratory obstruction is a common sequela in children with Zika-related microcephaly (ZRM). As a cross-sectional analysis nested in a cohort study, this study aims to investigate the prevalence of adenoid hypertrophy (AH) in children with ZRM and symptoms of respiratory obstruction. The data were collected in the first three years of life from children with ZRM who were followed in two reference centers for otorhinolaryngological care of patients with congenital Zika syndrome. Out of 92 children with confirmed ZRM, 57 were evaluated by nasopharyngoscopy after presenting with upper respiratory obstruction symptoms. In this study, 31 of the 57 (54%) children with ZRM who were evaluated had obstructive AH. Thirteen children with obstructive AH were submitted to surgery, which resulted in the complete resolution of symptoms for 11, partial resolution in 1, and no improvement in 1. No evidence of direct involvement by Zika virus (ZIKV) infection in the adenoid tissues was demonstrated by histology or immunohistochemistry. Our results suggest that there is a high prevalence and early presentation of AH in children with ZRM, with consequent upper airway obstruction causing upper airway obstructive disorder, secretory otitis media, and dysphagia.

Prevalence and surgical management of pubic hypertrophy in hypospadias patients: results from a high-volume surgeon.

INTRODUCTION: Pubic hypertrophy, defined as an abnormal and abundant round mass of fatty tissue located over the pubic symphysis, is frequently underestimated in patients with hypospadias. We examined the prevalence of this condition, as well as the outcomes associated with its surgical treatment. MATERIAL AND METHODS: Within 266 hypospadias patients treated at our clinic, we assessed the prevalence of pubic hypertrophy, and we schematically described the surgical steps of pubic lipectomy. Multivariable logistic regression (MLR) tested for predictors of pubic hypertrophy. Finally, separate MLRs tested for predictors of fistula and any complications after pubic lipectomy. RESULTS: Of 266 hypospadias patients, 100 (37.6%) presented pubic hypertrophy and underwent pubic lipectomy. Patients with pubic hypertrophy more frequently had proximal hypospadias (44 vs. 7.8%), disorders of sex development (DSD) (10 vs. 0.6%), cryptorchidism (12 vs. 2.4%), and moderate (30°-60°) or severe (>60°) penile curvature (33 vs. 4.2%). In MLR, the loca-tion of urethral meatus (proximal, Odds ratio [OR]: 10.1, p<0.001) was the only signifi cant pre-dictor of pubic hypertrophy. Finally, pubic lipectomy was not associated with increased risk of fi stula (OR: 1.12, p=0.7) or any complications (OR: 1.37, 95% CI: 0.64-2.88, p=0.4) after multi-variable adjustment. CONCLUSIONS: One out of three hypospadias patients, referred to our center, presented pubic hypertrophy and received pubic lipectomy. This rate was higher in patients with proximal hypospadias suggesting a correlation between pubic hypertrophy and severity of hypospadias. Noteworthy, pubic lipectomy was not associated with increased risk of fistula or any complications.

Prevalence and surgical management of pubic hypertrophy in hypospadias patients: results from a high-volume surgeon

ABSTRACT Introduction: Pubic hypertrophy, defined as an abnormal and abundant round mass of fatty tissue located over the pubic symphysis, is frequently underestimated in patients with hypospadias. We examined the prevalence of this condition, as well as the outcomes associated with its surgical treatment. Material and methods: Within 266 hypospadias patients treated at our clinic, we assessed the prevalence of pubic hypertrophy, and we schematically described the surgical steps of pubic lipectomy. Multivariable logistic regression (MLR) tested for predictors of pubic hypertrophy. Finally, separate MLRs tested for predictors of fistula and any complications after pubic lipectomy. Results: Of 266 hypospadias patients, 100 (37.6%) presented pubic hypertrophy and underwent pubic lipectomy. Patients with pubic hypertrophy more frequently had proximal hypospadias (44 vs. 7.8%), disorders of sex development (DSD) (10 vs. 0.6%), cryptorchidism (12 vs. 2.4%), and moderate (30°-60°) or severe (>60°) penile curvature (33 vs. 4.2%). In MLR, the location of urethral meatus (proximal, Odds ratio [OR]: 10.1, p<0.001) was the only significant predictor of pubic hypertrophy. Finally, pubic lipectomy was not associated with increased risk of fistula (OR: 1.12, p=0.7) or any complications (OR: 1.37, 95% CI: 0.64-2.88, p=0.4) after multivariable adjustment. Conclusions: One out of three hypospadias patients, referred to our center, presented pubic hypertrophy and received pubic lipectomy. This rate was higher in patients with proximal hypospadias suggesting a correlation between pubic hypertrophy and severity of hypospadias. Noteworthy, pubic lipectomy was not associated with increased risk of fistula or any complications.

Breast Asymmetry in Women Requesting Plastic Surgery of the Breast.

OBJECTIVE: Breast asymmetries have a high prevalence among women requesting breast augmentation. However, the prevalence of breast asymmetries in women undergoing other types of breast surgeries is not known. METHODS: The breast measurements of consecutively women evaluated for plastic surgery of the breast, but without prior breast surgery, were prospectively recorded in a plastic surgery database. They were classified into three groups according to the presenting breast problem: hypoplastic breasts, macromastia, and ptotic breasts. Comparisons were made between the right and left side of each patient regarding the symmetry of the nipple-areola complex (size and position), breast mound, and chest wall. RESULTS: The breast measurements of 304 women were analyzed. The mean age was 35 ± 12 years. The study population was distributed in the following manner: 126 hypoplastic breast cases, 100 macromastia cases, and 78 ptotic breast cases. Asymmetry of the position of the nipple-areola complex was found in 54%, 59%, and 56% of the groups, respectively. Asymmetry of the breast mound volume was found in 41%, 47%, and 44% of the groups. Asymmetry of the chest wall was present in 12%, 11%, and 10% of the groups, respectively. Overall, we found that 91% of the cases had at least one type of breast asymmetry. Prevalence of asymmetry was not different (p>0.05) among the groups, but the magnitude was larger in macromastia. CONCLUSION: Breast asymmetries were detected in the majority of women and the prevalence was similar across the different groups, however the magnitude was greater in hypertrophic breasts.

Otolaryngologic findings in prepubertal obese children with sleep-disordered breathing.

OBJECTIVE: To evaluate otolaryngologic findings in obese prepubertal children with sleep-disordered breathing. METHODS: We prospectively evaluated 29 obese children referred by pediatric endocrinologist, complaining of snoring and without a history of nasal surgery or removal of the palatine tonsils and/or adenoids. Patients underwent ear, nose and throat (ENT) examination, endoscopy, measurements of weight, height, calculation of body mass index (BMI), assessment of BMI z-score and polysomnography, from which were divided into two groups: those with obstructive sleep apnea syndrome (nine children) and those with primary snoring (20 children). Then we proceeded to the statistical analysis of the data collected. RESULTS: The groups did not differ in age, gender, weight, height, BMI and BMI z-score. Among the findings of the ENT examination, the adenoid size was the only one that differed between the groups (p = 0.01). CONCLUSION: The evaluation of the adenoid size is an important in obese children with symptoms of sleep-disordered breathing and is related to the presence of obstructive sleep apnea syndrome.

Allergic rhinitis in the child and associated comorbidities.

Allergic rhinitis (AR) typically presents after the second year of life, but the exact prevalence in early life is unknown. AR affects 10-30% of the population, with the greatest frequency found in children and adolescents. It appears that the prevalence has increased in the pediatric population. As the childs' immune system develops between the 1st and 4th yr of life, those with an atopic predisposition begin to express allergic disease with a clear Th(2) response to allergen exposure, resulting in symptoms. In pediatric AR, two or more seasons of pollen exposure are generally needed for sensitization, so allergy testing to seasonal allergens (trees, grasses, and weeds) should be conducted after the age of 2 or 3 years. Sensitization to perennial allergens (animals, dust mites, and cockroaches) may manifest several months after exposure. Classification of AR includes measurement of frequency and duration of symptoms. Intermittent AR is defined as symptoms for <4 days/wk or <4 consecutive weeks. Persistent AR is defined as occurring for more than 4 days/wk and more than 4 consecutive weeks. AR is associated with impairments in quality of life, sleep disorders, emotional problems, and impairment in activities such as work and school productivity and social functioning. AR can also be graded in severity - either mild or moderate/severe. There are comorbidities associated with AR. The chronic effects of the inflammatory process affect lungs, ears, growth, and others. AR can induce medical complications, learning problems and sleep-related complaints, such as obstructive sleep apnea syndrome and chronic and acute sinusitis, acute otitis media, serous otitis media, and aggravation of adenoidal hypertrophy and asthma.

Association between adenotonsillar hypertrophy, tonsillitis and painful crises in sickle cell disease.

OBJECTIVES: To determine the prevalence of obstructive adenotonsillar hypertrophy in children and adolescents with sickle cell anemia; to investigate possible association between the presence of more than five episodes of tonsillitis in the last 12 months and episodes of painful crises in the same period; and to compare the mean annual hemoglobin level in children and adolescents with and without obstructive adenotonsillar hypertrophy. METHODS: Prospective, observational, cross-sectional study involving 85 children and adolescents with sickle cell anemia. All patients answered a questionnaire and underwent a standard otolaryngology examination, including endoscopic endonasal approach. The diagnosis of obstructive adenotonsillar hypertrophy was made according to the Brodsky scale. RESULTS: The prevalence of obstructive adenotonsillar hypertrophy was 55.3%. Obstructive adenotonsillar hypertrophy was associated with history of difficulty in eating (76.7 vs. 23.5%, p = 0.003), presence of more than five episodes of tonsillitis in the last 12 months (70.6 vs. 29.4%, p = 0.021), loud snoring (73.0 vs. 27.0%, p = 0.004), and sleep apnea (71.8 vs. 28.2%, p = 0.005). Patients with obstructive adenotonsillar hypertrophy had more episodes of recurrent upper airway tract infection (62.5 vs. 37.5; p = 0.010). The presence of more than five episodes of tonsillitis in the last 12 months was associated with episodes of painful crises (median = 12 vs. 2, p = 0.017). There was no significant difference between mean annual hemoglobin levels of patients with obstructive adenotonsilar hypertrophy vs. nonobstructive adenotonsillar hypertrophy: 7.6 vs. 8.2 g/dL, p = 0.199. CONCLUSIONS: The prevalence of obstructive adenotonsillar hypertrophy was 55.3% in children and adolescents with sickle cell anemia; the presence of more than five episodes of tonsillitis in the last 12 months was associated with episodes of painful crises in the same period; and there was no difference in the mean annual hemoglobin value among those with or without obstructive adenotonsillar hypertrophy.

Associação entre hipertrofia adenotonsilar, tonsilites e crises álgicas na anemia falciforme / Association between adenotonsillar hypertrophy, tonsillitis and painful crises in sickle cell disease

OBJETIVOS: Determinar a prevalência da hipertrofia adenotonsilar obstrutiva em crianças e adolescentes portadores de anemia falciforme; investigar possível associação entre presença de mais de cinco episódios de tonsilite nos últimos 12 meses e episódios de crise álgica no mesmo período; e comparar a hemoglobina anual média entre os que apresentam e os que não apresentam hipertrofia adenotonsilar obstrutiva. MÉTODOS: Trata-se de estudo prospectivo, observacional do tipo corte transversal, com 85 crianças e adolescentes com anemia falciforme. Todos responderam questionário e avaliação otorrinolaringológica, incluindo endoscopia nasossinusal. Para o diagnóstico da hipertrofia adenotonsilar obstrutiva foram adotados os critérios de Brodsky. RESULTADOS: A prevalência da hipertrofia adenotonsilar obstrutiva foi de 55,3 por cento. A hipertrofia adenotonsilar obstrutiva associou-se à história de dificuldade para alimentar-se (76,7 versus 23,5 por cento; p = 0,003), presença de mais de cinco episódios de tonsilites nos últimos 12 meses (70,6 versus 29,4 por cento; p = 0,021), roncar alto (73,0 versus 27,0 por cento; p = 0,004) e apneia do sono assistida (71,8 versus 28,2 por cento; p = 0,005). Portadores de hipertrofia adenotonsilar obstrutiva apresentaram maior número de infecções das vias aéreas superiores (62,5 versus 37,5; p = 0,010). Também foi observada associação entre presença de mais de cinco episódios de tonsilite nos últimos 12 meses e episódios de crise álgica no mesmo período (mediana = 12 versus 2; p = 0,017). Não houve diferença significante da hemoglobina anual média entre portadores de hipertrofia adenotonsilar obstrutiva versus hipertrofia adenotonsilar não-obstrutiva (7,6 versus 8,2 g/dL; p = 0,199). CONCLUSÃO: A prevalência da hipertrofia adenotonsilar obstrutiva foi de 55,3 por cento em crianças e adolescentes com anemia falciforme. A presença de mais de cinco episódios de tonsilite nos últimos 12 meses associaram-se com...

OBJECTIVES: To determine the prevalence of obstructive adenotonsillar hypertrophy in children and adolescents with sickle cell anemia; to investigate possible association between the presence of more than five episodes of tonsillitis in the last 12 months and episodes of painful crises in the same period; and to compare the mean annual hemoglobin level in children and adolescents with and without obstructive adenotonsillar hypertrophy. METHODS: Prospective, observational, cross-sectional study involving 85 children and adolescents with sickle cell anemia. All patients answered a questionnaire and underwent a standard otolaryngology examination, including endoscopic endonasal approach. The diagnosis of obstructive adenotonsillar hypertrophy was made according to the Brodsky scale. RESULTS: The prevalence of obstructive adenotonsillar hypertrophy was 55.3 percent. Obstructive adenotonsillar hypertrophy was associated with history of difficulty in eating (76.7 vs. 23.5 percent, p = 0.003), presence of more than five episodes of tonsillitis in the last 12 months (70.6 vs. 29.4 percent, p = 0.021), loud snoring (73.0 vs. 27.0 percent, p = 0.004), and sleep apnea (71.8 vs. 28.2 percent, p = 0.005). Patients with obstructive adenotonsillar hypertrophy had more episodes of recurrent upper airway tract infection (62.5 vs. 37.5; p = 0.010). The presence of more than five episodes of tonsillitis in the last 12 months was associated with episodes of painful crises (median = 12 vs. 2, p = 0.017). There was no significant difference between mean annual hemoglobin levels of patients with obstructive adenotonsilar hypertrophy vs. nonobstructive adenotonsillar hypertrophy: 7.6 vs. 8.2 g/dL, p = 0.199. CONCLUSION: The prevalence of obstructive adenotonsillar hypertrophy was 55.3 percent in children and adolescents with sickle cell anemia; the presence of more than five episodes of tonsillitis in the last 12 months was associated with episodes of painful...

Prevalence of malocclusion among mouth breathing children: do expectations meet reality?

OBJECTIVE: The aim of this study was to report epidemiological data on the prevalence of malocclusion among a group of children, consecutively admitted at a referral mouth breathing otorhinolaryngological (ENT) center. We assessed the association between the severity of the obstruction by adenoids/tonsils hyperplasia or the presence of allergic rhinitis and the prevalence of class II malocclusion, anterior open bite and posterior crossbite. METHODS: Cross-sectional, descriptive study, carried out at an Outpatient Clinic for Mouth-Breathers. Dental inter-arch relationship and nasal obstructive variables were diagnosed and the appropriate cross-tabulations were done. RESULTS: Four hundred and one patients were included. Mean age was 6 years and 6 months (S.D.: 2 years and 7 months), ranging from 2 to 12 years. All subjects were evaluated by otorhinolaryngologists to confirm mouth breathing. Adenoid/tonsil obstruction was detected in 71.8% of this sample, regardless of the presence of rhinitis. Allergic rhinitis alone was found in 18.7% of the children. Non-obstructive mouth breathing was diagnosed in 9.5% of this sample. Posterior crossbite was detected in almost 30% of the children during primary and mixed dentitions and 48% in permanent dentition. During mixed and permanent dentitions, anterior open bite and class II malocclusion were highly prevalent. More than 50% of the mouth breathing children carried a normal inter-arch relationship in the sagital, transversal and vertical planes. Univariate analysis showed no significant association between the type of the obstruction (adenoids/tonsils obstructive hyperplasia or the presence of allergic rhinitis) and malocclusions (class II, anterior open bite and posterior crossbite). CONCLUSIONS: The prevalence of posterior crossbite is higher in mouth breathing children than in the general population. During mixed and permanent dentitions, anterior open bite and class II malocclusion were more likely to be present in mouth breathers. Although more children showed these malocclusions, most mouth breathing children evaluated in this study did not match the expected "mouth breathing dental stereotype". In this population of mouth breathing children, the obstructive size of adenoids or tonsils and the presence of rhinitis were not risk factors to the development of class II malocclusion, anterior open bite or posterior crossbite.

Estenosis hipertrófica congenita del piloro: experiencia en el Hospital cayetano Heredia abril 1969 febrero 1991 / Congenital hipertrofic piloric stenosis: experience at the Cayetano Heredia Hosptal from april 1969 to february 1991

Este trabajo se realizó en el Servicios de Cirugía Pediatrica, Hospital Cayetano Heredia, Lima. Se revisaron Historias Clínicas de abril 1969 a febrero 1991 con Diagnóstico de Estenosis Hipertrófica de Píloro (EHCP), 76 cumplieron los criterios de selección (paciente pediátrico y confirmación diagnóstica post-operatoria). El objetivo fue realizar un estudio sobre EHCP donde se resaltan los hallazgos clínicos de esta patología en un Hospital General; se muestra el porcentaje en lo referente a la palpación de la Oliva Pilorica, estableciendo asi el diagnóstico definitivo; la evaluación clínica, el tratamiento quirúrgico, la morbi-mortalidad. La edad promedio al ingreso fue de 39.11 días; relación varón/mujer: 4.4/1 (p menor 0.01); siendo primogénitos 43.42 por ciento. El 100 por ciento de los pacientes iniciaron con vómitos post prandiales, a la edad promedio de 23.73 días. Estreñimiento en 52.63 por ciento, avidez por alimento en 40.79 por ciento. La oliva pilórica se palpó en el 93.42 por ciento de todos los casos, estableciendose así el diagnóstico clínico definitivo. La palpación fue negativa en 5 pacientes siendo su diagnóstico definitivo radiológico. La anomalía congénita asociada más frecuente fue la hernia inguinal (6.58 por ciento). En todos se realizó piloromiotomía de Fredet-Ramstedt. 22.36 por ciento de los pacientes tuvieron por lo menos una complicación; siendo la mas frecuente la infección de la hernia operatoria (5.26 por ciento), hipotermia (5.26 por ciento) y la perforación iatrogénica de la mucosa pilórica (3.95 por ciento). En el 48.68 por ciento no existió vómitos post-prandiales, y la mortalidad fue 1.32 por ciento (1 de 76 pacientes)

Hipertrofia parcial congenita: descripcion de cinco casos con compromiso de MMII / Congenital partial hypertrophy: description of five cases with compromise of lower limbs

Se describen los hallazgos clinicos de cinco pacientes con hipertrofia parcial congenita, tipo segmentario. Se realiza una revision de la literatura y se establecen comparaciones con los resultados obtenidos en el presente estudio