RESUMO
INTRODUCTION: Hospital readmission rates are used as a metric of the quality of patient care in adults. Readmission data is lacking for pediatric surgical patients. The objective of this study is to evaluate our institution's 30-day unexpected pediatric surgical readmission data to identify potentially preventable readmissions. METHODS: An internal database of all pediatric surgical 30-day readmissions to two tertiary-referral children's hospitals in a single health system was reviewed. All pediatric general surgery admissions between January 2008 and May 2013 with hospital readmission within 30 days were included in the study. Patient demographics, diagnoses, cause of readmission, procedure performed, and length of stay were recorded. Charts were individually reviewed to evaluate causality of readmission. RESULTS: There were 2217 pediatric general surgery admissions during the study period. Of these, 145 (6.5%) experienced unexpected readmission within 30 days. One-third of all readmissions occurred in infants between 0 and 364 days of age, 50% occurred in those under 2 years and wholly 80% of all readmissions occurred in those under 9 years of age. A majority of readmissions were associated with chronic comorbid conditions. CONCLUSION: Analysis of pediatric surgical readmission data may assist hospitals in focusing quality of care and cost effectiveness strategies. Development of coordination of care strategies and discharge planning involving both pediatric surgical teams and pediatric hospitalists/specialists may reduce pediatric surgical readmission rates.
Assuntos
Hospitais Pediátricos/estatística & dados numéricos , Readmissão do Paciente/estatística & dados numéricos , Complicações Pós-Operatórias/epidemiologia , Análise de Causa Fundamental/estatística & dados numéricos , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Tempo de Internação , Masculino , Estudos Retrospectivos , Centros de Atenção Terciária/estatística & dados numéricos , Adulto JovemRESUMO
UNLABELLED: The rapid emergence and recovery from general anesthesia provided by desflurane is associated with a frequent incidence of emergence agitation in children. We sought to determine the mean effective dose of fentanyl that would significantly reduce the incidence of emergence agitation while preserving rapid recovery. Thirty-two children undergoing adenoidectomy received general anesthesia with desflurane and a dose of fentanyl (1.25, 1.87, 2.8, and 4.2 microg/kg) determined by the classic up-down method. Recovery characteristics, including time to extubation, recovery, hospital discharge, agitation, pain, and vomiting, were recorded. Demographics and recovery features were assessed by analysis of variance and Kruskal-Wallis tests. The mean effective dose of fentanyl to reduce agitation was calculated with the Dixon-Massey method to be 2.5 +/- 6.2 microg. There were no significant differences when treatment groups were compared for recovery criteria. Postoperative emesis occurred in 75% of patients. The results of this study demonstrate that a dose of 2.5 microg/kg of fentanyl is sufficient to prevent emergence agitation while preserving the rapid recovery associated with desflurane anesthesia in children undergoing adenoidectomy. IMPLICATIONS: A dose of 2.5 microg/kg of fentanyl prevents emergence agitation associated with desflurane anesthesia in children undergoing adenoidectomy without delaying emergence.
Assuntos
Adjuvantes Anestésicos/uso terapêutico , Acatisia Induzida por Medicamentos/prevenção & controle , Anestesia por Inalação/efeitos adversos , Anestésicos Inalatórios/efeitos adversos , Fentanila/uso terapêutico , Isoflurano/análogos & derivados , Isoflurano/efeitos adversos , Adenoidectomia , Acatisia Induzida por Medicamentos/epidemiologia , Período de Recuperação da Anestesia , Criança , Pré-Escolar , Desflurano , Eletrocoagulação , Feminino , Humanos , Masculino , Medicação Pré-AnestésicaRESUMO
UNLABELLED: We conducted this randomized, double-blinded, comparative, parallel-group study to determine whether adding EDTA to propofol would affect the clinical profile, calcium and magnesium homeostasis, or renal function in healthy children. After the induction of anesthesia with halothane, 69 ambulatory surgical patients (1 mo to <17 yr old), received propofol without EDTA (n = 33) or propofol with EDTA (n = 36). Blood samples were obtained for the measurement of ionized calcium, ionized magnesium, and laboratory indicators of renal function. Hemodynamic measurements, recovery, and adverse events were recorded. Propofol with EDTA produced no significant effects on clinical efficacy or renal function. Propofol and propofol EDTA produced a statistically significant decrease from baseline in serum concentrations of ionized calcium and magnesium during infusion (P<0.05), but with no apparent clinical effect. Hemodynamic measurements generally remained stable and were similar for both groups. Statistically significant changes in systolic blood pressure, mean arterial pressure, and heart rate were not considered clinically significant. Adverse events were mild or moderate. The addition of EDTA does not alter the clinical profile of propofol in pediatric ambulatory surgical patients. With or without EDTA, propofol is associated with a decrease in ionized calcium with no apparent clinical effect. IMPLICATIONS: The addition of EDTA does not alter the clinical profile of propofol in pediatric ambulatory surgical patients. With or without EDTA, propofol is associated with a decrease in ionized calcium with no apparent clinical effect.
Assuntos
Procedimentos Cirúrgicos Ambulatórios , Anestesia Intravenosa , Anestésicos Intravenosos/efeitos adversos , Quelantes/efeitos adversos , Ácido Edético/efeitos adversos , Propofol/efeitos adversos , Adolescente , Período de Recuperação da Anestesia , Anestésicos Intravenosos/administração & dosagem , Cálcio/sangue , Criança , Pré-Escolar , Método Duplo-Cego , Feminino , Hemodinâmica/efeitos dos fármacos , Homeostase/efeitos dos fármacos , Humanos , Lactente , Infusões Intravenosas , Testes de Função Renal , Masculino , Monitorização Intraoperatória , Propofol/administração & dosagem , Equilíbrio Hidroeletrolítico/efeitos dos fármacosRESUMO
UNLABELLED: Children undergoing placement of bilateral myringotomy tubes (BMT) often exhibit pain-related behavior (agitation) in the postanesthesia care unit. We compared the emergence and recovery profiles of pediatric patients who received sevoflurane with or without supplementary intranasal fentanyl for BMT surgery. By using a prospective, double-blinded design, 150 children 6 mo to 5 yr of age, scheduled for routine BMT surgery, were anesthetized with sevoflurane (2%-3%) in a 60% N(2)O/O(2) gas mixture. Patients were randomized to receive equal volumes of intranasal saline (Control), 1 microg/kg fentanyl or 2 microg/kg fentanyl. A blinded observer evaluated each patient using a previously described 4-point agitation scale and the Steward recovery scale. Response to parental presence was observed after a score of six (full recovery) was achieved on the Steward recovery scale. There were no significant differences among the three groups regarding age, weight, surgeon, duration of anesthesia, or ear condition. Recovery times and emergence characteristic scores were not statistically different. Agitation scores were significantly reduced in the 2-microg/kg Fentanyl group as compared with the Control group (P = 0.012). Fentanyl 2 microg/kg is recommended to reduce the incidence of agitation seen in these patients. IMPLICATIONS: We examined the use of nasally administered fentanyl for the relief of agitation or discomfort after placement of bilateral myringotomy tubes in 150 children ages 6 mo to 5 yr using a prospective, double-blinded design. Fentanyl 2 microg/kg was found to reduce the incidence of agitation in these patients.
Assuntos
Período de Recuperação da Anestesia , Anestésicos Inalatórios , Anestésicos Intravenosos/administração & dosagem , Fentanila/administração & dosagem , Éteres Metílicos , Ventilação da Orelha Média , Dor Pós-Operatória/terapia , Administração Intranasal , Pré-Escolar , Método Duplo-Cego , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Agitação Psicomotora/etiologia , Agitação Psicomotora/prevenção & controle , Análise de Regressão , SevofluranoRESUMO
UNLABELLED: This randomized, double-blind, parallel-group, multicenter study evaluated the safety and efficacy of ondansetron (0.1 mg/kg to 4 mg intravenously) compared with placebo in the prevention of postoperative vomiting in 429 ASA status I-III children 1-12 yr old undergoing outpatient surgery under nitrous oxide- and halothane-based general anesthesia. The results show that during both the 2-h and the 24-h evaluation periods after discontinuation of nitrous oxide, a significantly greater percentage of ondansetron-treated patients (2 h 89%, 24 h 68%) compared with placebo-treated patients (2 h 71%, 24 h 40%) experienced complete response (i.e., no emetic episodes, not rescued, and not withdrawn; P < 0.001 at both time points). Ondansetron-treated patients reached criteria for home readiness one-half hour sooner than placebo-treated patients (P < 0.05). The age of the child, use of intraoperative opioids, type of surgery, and requirement to tolerate fluids before discharge may also have affected the incidence of postoperative emesis during the 0- to 24-h observation period. Use of postoperative opioids did not have any effect on complete response rates in this patient population. We conclude that the prophylactic use of ondansetron reduces postoperative emesis in pediatric patients, regardless of the operant influential factors. IMPLICATIONS: Postoperative nausea and vomiting often occur after surgery and general anesthesia in children and are the major reason for unexpected hospital admission after ambulatory surgery. Our study demonstrates that the prophylactic use of a small dose of ondansetron reduces postoperative vomiting in pediatric patients.
Assuntos
Antieméticos/administração & dosagem , Ondansetron/administração & dosagem , Complicações Pós-Operatórias/prevenção & controle , Pré-Medicação , Vômito/prevenção & controle , Anestesia Geral , Anestésicos Inalatórios , Antieméticos/efeitos adversos , Criança , Pré-Escolar , Método Duplo-Cego , Feminino , Halotano , Humanos , Tempo de Internação , Masculino , Óxido Nitroso , Ondansetron/efeitos adversosRESUMO
BACKGROUND: The perfect preanesthesia medication and its ideal route of administration are still debated, but for pediatric surgical patients undergoing brief procedures, preanesthesia medication is frequently omitted because of the concern that it will prolong the child's recovery from anesthesia. The effects of nasally administered midazolam on anesthetic recovery and hospital discharge times were determined in 88 ASA physical status 1 and 2 ambulatory surgical patients undergoing a brief surgical procedure. METHODS: Using a randomized, double-blind, placebo-controlled design, 88 ambulatory surgical patients 10-36 months of age undergoing myringotomy and tube insertion were entered into the study. All patients were randomly assigned to one of three medication groups. One group received 0.2 mg/kg intranasal midazolam; a second group received 0.3 mg/kg intranasal midazolam; and the third group received intranasal saline drops. All patients were anesthetized with nitrous oxide, oxygen, and halothane administered via mask. The duration of anesthesia lasted between 9 and 10 min. After preanesthetic medication, the children were evaluated for ease of separation and induction of anesthesia. In addition, the time from when the anesthetic was discontinued until the child recovered from anesthesia and the time the child was discharged home were recorded by a nurse observer blinded to the patient grouping. RESULTS: Children receiving midazolam had smoother, calmer parent-child separation and anesthesia induction scores, and their anesthesia recovery times and hospital discharge times were the same as those receiving placebo. CONCLUSIONS: For children undergoing brief surgical procedures, nasal midazolam provides satisfactory anxiolysis without delaying anesthesia recovery and hospital discharge.
Assuntos
Período de Recuperação da Anestesia , Midazolam/administração & dosagem , Medicação Pré-Anestésica , Administração Intranasal , Ansiedade de Separação/prevenção & controle , Pré-Escolar , Método Duplo-Cego , Humanos , Lactente , Alta do PacienteRESUMO
This study correlates the magnetic resonance imaging characteristics with the pathologic findings in rare benign fatty soft tissue tumors in four children. A review of the literature is presented. Two cases of infiltrating lipoma displayed bright signal on both T1- and T2-weighted images, similar to that observed in subcutaneous fat. Histological study revealed extensive muscle infiltration by mature fat, with some areas of total fatty replacement. The case of facial lipomatosis revealed an extensive process of fatty invasion of adjacent soft tissue and osseous deformity by mass effect of the tumor. This lesion was bright on T1- and T2-weighted images. Histopathologic examination showed widespread invasion of squamous mucosa and skeletal muscle. The single case of lipoblastoma involved the presacral region and right buttock. This lesion, although bright on both T1 and T2 weighting, was relatively hypointense to subcutaneous fat on T1. Microscopic examination revealed a well-encapsulated fatty mass made up of cells ranging from lipoblasts to mature lipocytes. In childhood, when fatty lesions are almost always benign, a morphologic characterization by magnetic resonance may be sufficient basis on which to make critical therapeutic judgements.
Assuntos
Lipoma/diagnóstico , Imageamento por Ressonância Magnética , Neoplasias de Tecidos Moles/diagnóstico , Adolescente , Nádegas , Pré-Escolar , Dermatoses Faciais/congênito , Dermatoses Faciais/diagnóstico , Dermatoses Faciais/patologia , Feminino , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/patologia , Humanos , Lactente , Lipoma/patologia , Lipomatose/congênito , Lipomatose/diagnóstico , Lipomatose/patologia , Masculino , Neoplasias de Tecidos Moles/patologiaRESUMO
BACKGROUND: Desflurane is a new potent, inhaled anesthetic agent with low blood-gas solubility that should allow for the rapid induction of and emergence from anesthesia. However, its extreme pungency makes desflurane unacceptable for induction of anesthesia in children. This study was undertaken to determine the airway properties of desflurane administered by mask after anesthetic induction with halothane and nitrous oxide, and to compare the emergence and recovery properties of minimum alveolar concentration (MAC)-equivalent concentrations of desflurane or halothane in nitrous oxide in pediatric patients undergoing ambulatory surgery. METHODS: Forty-five children undergoing ambulatory surgery for inguinal hernia repair, orchiopexy, and/or circumcision were randomized into two groups. Both groups were premedicated with intranasal midazolam and given halothane and nitrous oxide by mask to induce anesthesia. A caudal block was placed in children in both groups after anesthetic induction. For maintenance of anesthesia, group I patients (n = 22) were switched over to desflurane (1 MAC) and nitrous oxide, and group II patients (n = 23) continued to receive halothane (1 MAC) and nitrous oxide. All patients breathed spontaneously throughout the entire procedure, and all anesthetics were terminated abruptly at the conclusion of surgery. Recovery indicators (time to first response, length of time in the recovery room and length of time in the hospital) and the quality of the anesthetic emergence were assessed by a nurse blinded to each patient's anesthetic. This observer was present with the patient throughout his or her ambulatory hospitalization and continuously assessed the recovery indicators according to preset criteria. RESULTS: The groups did not differ with respect to age, weight, or dose of midazolam. Although group I (desflurane) had a longer anesthesia time (52 +/- 12 min vs. 42 +/- 10 min), their time to first response (9.5 +/- 6.8 min vs. 20.9 +/- 14.7 min) and their recovery room time (21 +/- 10.7 min vs. 29 +/- 14.6 min) were less than those in group II (halothane). There was a trend for patient emergence from desflurane anesthesia to be associated with a higher incidence of emergence delirium (50% vs. 21%). The two groups were similar with respect to overall duration of postoperative ambulatory hospitalization. CONCLUSIONS: In children premedicated with intranasal midazolam, desflurane maintenance anesthesia allows for a faster recovery. However, depending on the institution's criteria for ambulatory surgical patient discharge, desflurane may or may not affect the overall hospitalization time.
Assuntos
Procedimentos Cirúrgicos Ambulatórios , Período de Recuperação da Anestesia , Anestesia por Inalação , Halotano , Isoflurano/análogos & derivados , Pré-Escolar , Desflurano , Humanos , Lactente , Masculino , Óxido NitrosoRESUMO
In hypertrophic pyloric stenosis, the muscle is typically described as hypoechoic on sonography. However, we have frequently noted a nonuniform pattern; the pyloric muscle seen in the transverse plane is more echogenic in the near and far fields and less echogenic on the sides. The muscle also appears almost as echogenic as the liver on midline longitudinal sonograms. To establish the frequency of these findings, we reviewed the sonograms of 71 infants with hypertrophic pyloric stenosis. The muscle was imaged directly during surgery in three patients. In an in vitro experiment, muscle arranged to stimulate the pyloric ring was scanned in a water bath. Then, using two sections of muscle, we compared the echogenicity when scanning in a plane perpendicular to the long axis of the muscle fibers with that seen with the beam parallel to the long axis of the muscle fibers. In the transverse plane, nonuniform echogenicity of the pyloric muscle was seen in 59 (98%) of 60 patients. In the midline longitudinal plane, the muscle was equal to or slightly less echogenic than the liver in all patients. Both the in vivo and in vitro studies show that the echogenicity varies with the relationship of the ultrasound beam to the orientation of the circular muscle fibers; this phenomenon is known as the anisotropic effect. Our results show that nonuniform echogenicity of the hypertrophied pyloric muscle is a characteristic sonographic finding caused by the anisotropic effect, which is related to the orientation of the ultrasound beam with respect to the circular fibers of the pyloric muscle.
Assuntos
Estenose Pilórica/diagnóstico por imagem , Piloro/patologia , Humanos , Hipertrofia , Lactente , Piloro/diagnóstico por imagem , UltrassonografiaRESUMO
The aim of this study was to develop an animal model for necrotizing enterocolitis (NEC). Twenty-five neonatal Hanford minipigs had carotid artery and external jugular vein catheters and rectal Clinical Tonomitors placed under anesthesia. Experimental animals were subjected to a hypoxic insult (50% reduction in baseline PaO2 for 30 minutes) and hypothermic stress (core temperature reduced to 35 degrees C for 30 minutes). Regular oral diet was resumed and the survivors were euthanized 3 to 4 days later. All animals underwent necropsy with gross and histopathological evaluation of the entire bowel. Of 22 experimental animals, 14 survived (64%) and 8 (36%) died of pulmonary hemorrhage. Of the 14 survivors, 8 (57%) had gross and microscopic evidence of NEC. Six of the total 25 animals (24%) sustained rectal perforations from the tonometer. Of 3 control animals, one died of pulmonary hemorrhage and the two survivors had normal intestine. This model successfully produced gross and histological evidence of NEC. The tonometer shows promise as a predictor of NEC provided technical modifications can reduce the complication rate.
Assuntos
Modelos Animais de Doenças , Enterocolite Pseudomembranosa , Animais , Animais Recém-Nascidos , Enterocolite Pseudomembranosa/etiologia , Enterocolite Pseudomembranosa/patologia , Hipotermia Induzida , Hipóxia/patologia , Intestino Delgado/patologia , Suínos , Porco MiniaturaRESUMO
The neonatal piglet is a satisfactory model for the human neonate requiring total parenteral nutrition (TPN). Bile status and subsequent liver and gallbladder dysfunction have long been documented as serious complications of long-term TPN. The purpose of this study was to determine whether small amounts of enteral formula during TPN will maintain normal bile appearance and composition. Thirty-one Hanford miniswine, 3 to 6 days old underwent surgery for the placement of central venous catheters. Two days postoperatively, the animals were separated into three groups, according to dietary regimens. Group 1 (n = 10), the control group, received pig formula (SPF-lac) orally (200 cal/kg/d); group 2 (n = 11), was maintained on TPN (180 cal/kg/d) with an enteral supplement of SPF-lac (20 cal/kg/d); group 3 (n = 10), was maintained on TPN only (200 cal/kg/d). The TPN formula consisted of 35 g/kg/d of glucose, 10 g/kg/d of protein, and 3 g/kg/d of lipid. The animals were maintained on these diets for 6 weeks. At necropsy, gallbladder with bile was weighed and bile volume and appearance was recorded. Chemical analyses was performed on 26 bile samples. Gallbladder weight was significantly decreased in groups 2 and 3 compared with group 1 (P less than .0003, P less than .033, respectively, using Students t test with Bonferoni adjustment). Volume was significantly decreased only in group 2 (P less than .003). Group differentiation in relation to bile appearance was determined by the presence or absence of either bile sludge or crystals.(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
Bile/análise , Colestase/prevenção & controle , Nutrição Enteral/métodos , Nutrição Parenteral Total/efeitos adversos , Animais , Animais Recém-Nascidos , Colestase/etiologia , Colestase/fisiopatologia , Dieta , Doenças da Vesícula Biliar/fisiopatologia , Doenças da Vesícula Biliar/prevenção & controle , Hepatopatias/fisiopatologia , Hepatopatias/prevenção & controle , SuínosRESUMO
Esophageal atresia may be associated with a long interval or gap between the upper and lower pouches. Despite a variety of procedures to elongate the esophagus, surgeons have been unable to achieve esophageal continuity in many patients. Three infants with esophageal atresia and long gaps recently underwent hydrostatic dilation of the distal esophageal pouch followed by primary anastomosis. The technique entailed passing a balloon-tipped catheter through a gastrostomy site to the distal esophageal pouch. The balloon was inflated to a diameter sufficient to occlude the distal esophagus. Dilute contrast material was then infused under fluoroscopic visualization to a maximal pressure of 145 cm H2O. Dilations were performed daily over a 2-week period, followed by surgery. Primary anastomosis was accomplished in all patients. The promising results in these patients should stimulate other investigators to assess this technique in infants with this challenging surgical problem.
Assuntos
Cateterismo/métodos , Atresia Esofágica/terapia , Anastomose Cirúrgica , Atresia Esofágica/cirurgia , Humanos , Recém-Nascido , MasculinoRESUMO
Secondary infection of post-traumatic cavitary lung lesions is unusual. This report describes the clinical course of four patients who sustained severe blunt chest trauma and developed pulmonary pseudocysts that became foci for systemic sepsis. All four patients were adolescents or young adults. Hemophilus species and aerobic Gram-negative rods were the predominant pathogens recovered. Computed tomography of the chest was instrumental in establishing the diagnosis in each case. Despite appropriate antibiotic therapy, all four patients remained septic for weeks. One of the patients died as a result of this infectious process. One patient underwent successful operative debridement and drainage of the involved lung and pleural space. Because infected traumatic pseudocysts may not respond like typical lung abscesses to appropriate antibiotic management, early exploratory thoracotomy should be considered in those patients with prolonged fever and pulmonary deterioration.
Assuntos
Lesão Pulmonar , Infecção dos Ferimentos/diagnóstico por imagem , Acidentes de Trânsito , Adolescente , Adulto , Contusões/complicações , Contusões/diagnóstico por imagem , Desbridamento , Drenagem , Feminino , Humanos , Pulmão/diagnóstico por imagem , Pulmão/cirurgia , Masculino , Tomografia Computadorizada por Raios X , Infecção dos Ferimentos/cirurgiaRESUMO
The primary objective of the present investigation was to document positive changes in food cravings, food consumption, and mood changes over the menstrual cycle and to explore the relation between these factors and dieting habits. A total of 32 female undergraduates completed daily self-reports of food cravings, foods eaten, and mood, for 5 or more weeks. Comparisons of these measures in the 10 days preceding (luteal phase) and 10 days following menstruation onset (follicular phase) revealed that both food cravings and amount eaten were greater in the luteal phase than in the follicular phase. Although women also experienced less positive affect in the luteal phase, there was no correlation between mood and either cravings or amount eaten. Women rated as chronic dieters craved less than those rated an nondieters. The findings on mood and eating confirm previous research, whereas those on cravings extend such research by suggesting that carbohydrate cravings may be augmented by the luteal phase in healthy women.
Assuntos
Afeto/fisiologia , Preferências Alimentares , Ciclo Menstrual , Adulto , Dieta Redutora , Ingestão de Alimentos , Feminino , Fase Folicular , Humanos , Fase LutealAssuntos
Doenças Ovarianas/diagnóstico , Ultrassonografia , Criança , Feminino , Humanos , Ovário/patologia , Anormalidade TorcionalRESUMO
The function of the nutritionist was to identify and anticipate nutritional problems, to facilitate complete care for each infant, and to serve as an educational resource to staff, patients, and families. Neonatal nutrition is an open and challenging field for nutritionists. An expanded role for the nutritionist as a member of the physician-nutritionist team, as demonstrated in this article, may provide direction for the organization of such a team in other health care facilities with neonatal intensive care units.
Assuntos
Fenômenos Fisiológicos da Nutrição do Lactente , Unidades de Terapia Intensiva Neonatal , Fenômenos Fisiológicos da Nutrição , Necessidades Nutricionais , Dietética , Feminino , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Doenças do Recém-Nascido/cirurgia , Recém-Nascido Prematuro , Masculino , Equipe de Assistência ao PacienteRESUMO
A nine generation kindred, the first generation dating back to the early 18th century, existing in the Mennonite population of central Pennsylvania is described in terms of the incidence of documented and presumptive Hirschsprung's disease. This kindred was developed by tracing back family lines, by the use of the "circle letter" and three family history books, and by personal interviews with key family members. In the ninth (current) generation, involving at least 5 families, 8 out of 14 children (57%) have documented evidence of Hirschsprung's disease; 4 out of 14 had congenital deafness (29%); 2 had Waardenburg's syndrome (14%); and 1 had Down's syndrome (7%). Only 1 out of the 14 had total colonic involvement. Investigation of the sixth-ninth (last 4) generations shows 22 out of 100 (22%) to have definite or strongly presumptive evidence of Hirschsprung's disease. The opportunity to study this unique kindred, which can be traced back to a single source, exhibiting a very high incidence of Hirschsprung's disease with an unusually high incidence of associated congenital anomalies and without significant association of total colonic disease has provided us with a better understanding of the genetics underlying this disease.
Assuntos
Doença de Hirschsprung/genética , Consanguinidade , Síndrome de Down/complicações , Feminino , Doença de Hirschsprung/complicações , Humanos , Masculino , LinhagemRESUMO
Explanted oviducts from 13- and 16-day embryonic female chicks responded to estradiol (1 to 4 micrograms/ml) in the culture medium by forming a thickened epithelium folded into crypts and containing goblet cells and by development of the stroma. In medium containing 3 micrograms/ml estradiol and 0.125 micrograms/ml hydrocortisone, 13-day embryonic oviducts exhibited further development: The columnar epithelial cells formed cilia and tubular glands were formed.