[Increase of newborns with anorectal malformation in 2011. Is it just by chance?]. / Acumulación de neonatos con malformación anorrectal en 2011. Solo azar?

OBJECTIVE: In 2011 we have diagnosed 9 anorectal malformations (MAR). This means 13.3 cases/10.000 NB versusu the estimated incidence of 2 cases/10.000 NB. This accumulation of defects can not be due to chance, so we have decided to focus on its research. MATERIAL AND METHODS: The study included all the patients with anorrectal malformations born in 2011. In all of them we analyzed: geographic area, age and health status of parents, pregnancy, exposure to teratogens, especially lorazepam intake, sex, gestational age, weight at birth, exploration of the abdomen and perineum, birth defects associated, imaging studies performed, treatment and current situation. RESULTS: All patients came from our province, and maternal age is under 20 years in 2 patientes and older than 30 in 7; male-dominated (8/1); low forms in 4 of 9 patients. 100% of newborns have some type of associated malformation, in genitals, urinary system or costovertebral. Clinical assessment and imaging study provided the right diagnosis in all the cases. It must be noted the absence of difficulties in the surgery treatment and a favorable outcome in all children. CONCLUSIONS: To this accumulation of cases with anorrectal malformation cases it is added a male predominanced, and a high incidence of associatedmalformations and high defects. We have not found an epidemiological explanation for this concentration of patients with anorrectal malformations. This forces us to continue our investigation if detected for some reason, currently not known.

[Evaluation of the anal position in newborns and children with chronic constipation. Incidence of anterior ectopic anus]. / Valoración de la posición del ano en recién nacidos y en niños con estreñimiento crónico. Incidencia del ano anterior ectópico.

INTRODUCTION: Anterior ectopic anus (AEA), continues to be a controversial issue. The objective is to determine the normal position of the anus or anal ano-genital index (AGI) in newborns (NB) and in a group of infants with chronic constipation, know the incidence of AEA in both groups, and its relationship with constipation. METHODS: A prospective aleatory study is performed in where the AGI is determined in 529 NB and 64 older patients with chronic constipation. The AGI is obtained by dividing the distances (cm): vulvar fornix-anus/fornix-coccyx in females and scrotum-anus/scrotum-coccyx in males. The NB group is further studied for gestational age, weight, number of meconium discharges and anal calibration. The newborns with AEA are then controlled to exclude constipation. In patients with chronic constipation, their age, sex and AGI are evaluated. The statistical comparisons are made by a Student's t test and Welch's t test for independent samples. RESULTS: 49.5% of NB are male. The average gestational age is 38.95 +/- 2.08/w in NB females and 38.54 +/- 2.26/w in NB males. The average weight is 3101.91 +/- 511.41/g in newborn females and 3145.14 +/- 573.36/g in newborn males. The average AGI of NB females is 0.40 +/- 0.05 and NB males 0.53 +/- 0.06. AEA is considered with AGI < 0.30 in females and < 0.41 in males. 2.2% of NB females (6/267) and 1.1% of NB males (3/262) have AEA. There is a significant difference between the AGI of NB females and NB males (p < 0.0001). 98% of NB discharge meconium in the first 24 hours. 2 NB females with AGI 0,21 and 0,26 had severe constipation in the first months of life. In group with chronic constipation (64 pacients), 59.4% are female. The AGI is 0.36 +/- 0.1 in females and 0.47 +/- 0.1 in males (p < 0.0001). Concerning of AEA in the NB group (AGI < 0.30 in females and 0.41 in males) incidence of AEA in group with chronic constipation is 35% in males and 47% in females. CONCLUSIONS: The position of the anus in the perineal floor is anterior in females, with significant differences (p < 0.0001) to the AGI in males. AEA has more incidence in females (2.2%). In the constipated group 47% of females had AEA and it is considered the probable reason for this disorder in these patients. To conclude, each NB evaluation protocol should include determination of the AGI in the neonatal period to exclude AEA and to prevent clinical consequences.

Determination of the anal position in newborns and in children with chronic constipation: comparative study in two European healthcare centres.

INTRODUCTION: The objective of this study was to determine the normal anal position index (API) in neonates and in a group of older children with chronic constipation, and to identify the incidence of anterior ectopic anus (AEA) in the two groups. MATERIALS AND METHODS: A prospective random study was carried out in two European hospitals determining the API in 1,012 neonates (529 in Group A, and 483 in Group B) and in 64 children suffering chronic constipation of ages between 3 months and 12 years (Group C). The API is defined as the ratio between the fourchette-anal and fourchette-coccygeal distances in girls and the scroto-anal and scroto-coccygeal distances in boys. The gestational age, weight, meconium evacuation and anal calibre were recorded in Groups A and B, and age, sex, and API in Group C. Statistical comparisons were made using Student's t test and Welch's t test for independent sample groups. RESULTS: The mean API in Group A was 0.53 ± 0.06 in males and 0.40 ± 0.05 in females, and in Group B 0.51 ± 0.06 in males and 0.39 ± 0.08 in females, with significant differences between the sexes (p < 0.0001) in both groups; 1.7% of the neonates in Group A and 2.4% of Group B presented AEA. 4/13 newborns females with AEA presented with severe constipation during their first months of life. For the 64 patients in Group C: 59.3% were female; the mean API was 0.47 ± 0.1 in males and 0.36 ± 0.1 in females (p < 0.0001). The incidence of AEA was 47% in females and 35% in males. CONCLUSIONS: In the neonates (Groups A and B), the position of the anus in the perineum was more anterior in females than in males (p < 0.0001); 31% of the newborns females with AEA presented with constipation in their first months of life. In the Group C patients, there was a high incidence of AEA, especially in the females, and we consider it to be the probable cause of this defecation disorder.

[Small left colon syndrome: a review of our experience]. / Síndrome del colon izquierdo pequeño: revisión de nuestra experiencia.

OBJECTIVE: The object is to present our experience with the small left colon syndrome (SLCS) and to investigate the usefulness of the anorrectal manometry in the study of these patients. MATERIAL AND METHODS: This was a retrospective review of the clinical histories of 10 patients treated in our Hospital for SLCS. The following variables are valued: sex, mother precedents, type of childbirth, gestational age, birth weight, clinical presentation (low colonic obstruction), delayed meconium passage, contrast enema with gastrografin, anorrectal manometry and treatment (Nursing, days of digestive rest, time of parenteral nutrition). RESULTS: During the study period, 10 patient were identified (5 are men). SLCS is reported in 2 sets of twins; in one set both twins are affected and in the other set 1 twin is affected. Maternal diabetes was identified in 6 patients. The mean gestational age was 36.6 + 2.11 weeks, and the weight 3001 +/- 689.72 g. 2 patient presented anomalies associated: fetopatía diabetic, hemivértebras D11-L2. All 10 infants presented abdominal distention and vomiting at 48.73 +/- 45.39 hours of life. Only 2 presented meconium passage in the first 24 hours. The contrast enema with gastrografin performed show typical findings of this syndrome in all cases. The anorrectal manometry carries out in 8 patients and demonstrates presence of the recto-anal inhibitory reflex (RAIR) in 5 and absence in 3. In these 3 patients with no RAIR, the study was repeated weekly until the presence being observed (normally between 2a and 3a week of life). In 1 newborn was necessary colostomy; the suction rectal biopsy showed immaturity of ganglionars cells and the manometric control previously at the close of the colostomy (9 months) showed presence of the RAIR. Conservative treatment (nursing and digestive rest) was successful in all cases with a mean of duration the 6.40 +/- 5.10 days. 6 patient needed parenteral nutrition during 7.30 +/- 8.49 days. The mean of discharge was 17.78 +/- 13.28 days. The clinical development was favourable in all the cases. CONCLUSIONS: The contrast enema with gastrografin is diagnostic and therapeutic and together with the nursing, has allowed solve the distal intestinal obstruction in 9 cases (90%). In the newborns with absence of RIAR, the anomanometric controls have allowed to know the moment of the maturation of the anorectal function.

[Familial adenomatous polyposis: a follow-up of the extracolonic manifestations]. / Poliposis adenomatosa familiar: seguimiento de las manifestaciones extracolónicas.

INTRODUCTION: Total colectomy is the only effective treatment for prophylaxis against colon cancer in patients with familial adenomatous polyposis (FAP). We present our experience with 4 children colectomized for FAP, with a particular focus on the long-term surveillance to detect extracolonic manifestations. PATIENTS AND METHODS: We review the clinical histories of 4 patients from 10 to 16-years-old, with family histories of FAP. Performed for each patient were: genetic testing, colonoscopy, double contrast enema, gastro-oesophageal duodenoscopy, thyroid and abdominal ultrasound, fundus oculi, and tumour markers (CEA, CA 19.9). They underwent total colectomy with ileoanal anastomosis and anorectal mucosectomy with an ileal J-pouch. During follow-up, they were monitored regularly with imaging techniques (including a video capsule in one patient) and endoscopy. Also evaluated were faecal continence, food intake, and height-weight development. RESULTS: All had multiple polyps in the colon, and mutation of the APC gene. Hypertrophy of the retinal pigment epithelium was observed in three. Immediately postoperative, there were abundant diarrhoeic stools, two presented an episode of "pouchitis", and one moderate undernourishment. One patient had an intraperitoneal haemorrhage that was resolved by blood transfusion. All 4 have normal faecal continence. During the first months postoperative, two patients showed considerable weight loss. In the follow-up (> 3 years), moderate undernourishment was observed in one patient. Duodenal polyps were found in two patients--in one by duodenoscopy, and in the other with the video capsule. CONCLUSIONS: After colectomy, FAP patients may develop extracolonic clinical manifestations, some of which may be malignant such as thyroid and periampullary cancer. Careful surveillance of these patients is therefore very important, with annual checks using gastroduodenoscopy and thyroid and abdominal ultrasound.

[Anorectal manometry in the neonatal diagnosis of Hirschsprung's disease]. / La manometría anorrectal en el diagnóstico neonatal de la enfermedad de Hirschsprung.

OBJECTIVE: To determine the usefulness of anorectal manometry (AM) in neonatal screening for Hirschsprung's disease (HD). MATERIAL AND METHODS: We review the anomanometric studies of 98 newborn (63 males and 35 females) with clinical suspicion of HD, noting the indications of AM, gestational age, weight, age in days at the test, and whether or not other diagnostic methods were performed. Studied at rest were the pressures (mmHg) in the rectal ampulla (RA), proximal anal canal (PAC), and distal anal canal (DAC), and, in the stimulation phase, the presence or absence of a recto-anal inhibitory reflex (RAIR). In patients with no RAIR, the study was repeated weekly until the end of the first month, and if there was still no RAIR a suction rectal biopsy (SRB) was performed. In these patients and those with signs of intestinal obstruction, a contrast enema was carried out. RESULTS: The indications of AM are: delayed meconium passage, abdominal distension, and/or vomiting in 61.5% of the patients, intestinal obstruction in 16%, constipation in 15.1%, and other causes in 7.4%. The mean gestational age was 35.59 +/- 4.59 weeks, and the weight 2518 +/- 912.91 g. The mean age at the first test was 15.08 +/- 11.33 days. A RAIR was observed at the first study in 65 patients (healthy 54, meconium plug 2, meconium ileus 2, intestinal neuronal dysplasia 1, false negative 1, and other diagnoses 6), and was absent in 27 (HD 20, small left colon syndrome 4, hypoganglionism 1, and false positives 2). In 6 patients the first study was considered invalid. Histological studies confirmed HD in 21 newborn, in 11 of whom the contrast enema showed a transition zone. There were no differences between healthy and HD newborn in the RA, PAC, or DAC resting pressures. The sensitivity of AM for the diagnosis of HD was 95% and its specificity 90.24%. The sensitivity and specificity of rectal biopsy were 100%. The sensitivity of contrast enema was 52.3%, and its specificity 78.6%. CONCLUSIONS: AM is a simple and safe method with high sensitivity and specificity for the neonatal diagnosis of HD. We consider it indicated prior to SRB in every newborn with clinical suspicion of this disease.

[Familial adenomatous polyposis: Gardner's syndrome]. / Poliposis adenomatosa familiar: síndrome de Gardner.

Familial adenomatous polyposis (PAF) associated to soft tissue tumors or osteomas constitutes the Gardner's syndrome of autosomal dominant inheritance. The risk of colorectal cancer in these patients is 100%. We present a patient with Gardner's syndrome who was had colectomy at early age. An eleven years old boy he was evaluated due to a family history of PAF and subcutaneous tumors (occipital and left thigh). Genetic profile shows a mutation in gene APC and the colonoscopy confirms the polyposis; the biopsy also suggested moderate dysplasia. When the patient reached the age of twelve, a total colectomy with colorectal mucosectomy was performed. Cystic subcutaneous lesions (epidermoid cysts) were also excised. In the postoperative period there were no complications. The prophylactic colectomy, is the only effective treatment to prevent the colorectal cancer. Gardner's syndrome patients requires periodic controls to rule out the appearance of new tumors or anomalies in the retine. The duodenoscopy is essential in the follow up of these patients because of the frequency of duodenal affectation.

[Utility of anorectal manometry in the diagnosis and treatment of encopresis]. / Utilidad de la manometría anorrectal para el diagnóstico y tratamiento de la encopresis.

BACKGROUND: Biofeedback based on anomanometric techniques has been shown to be effective in the treatment of children with encopresis. The long-term efficacy of biofeedback and which variables of anorectal manometry (anorectal manometry) could help to establish biofeedback indications are currently the subject of debate. OBJECTIVES: To identify which variables of anorectal manometry, in addition to symptoms, could be useful in deciding which patients could benefit from biofeedback therapy and to assess the outcome of this treatment. PATIENTS AND METHODS: Anorectal manometry was performed in 88 patients, who were referred to our service complaining of soiling at least once a month for a minimum of 6 months after a period of normal continence of 1 year or more. The chronological and mental age of the patients was 4 years. All patients were otherwise in good health and had shown no response to medical treatment. The following variables were studied: anal canal profile, rectoanal inhibitory reflex (RAIR), continence reflex, rectal sensitivity, external anal sphincter (EAS) activity and defecatory maneuver. The patients were divided into two groups, according to clinical and anomanometric impairment, and the most affected patients (n = 41) underwent biofeedback therapy. The indications and outcome of biofeedback were assessed through clinical course and anorectal manometry. In the statistical analysis, the mean and standard deviation were calculated. The chi-squared test with Yates' correction was used to compare clinical and manometric qualitative parameters; Student's t-test was used to compare quantitative parameters; nonparametric tests consisted of the Mann-Whitney test and the Wilcoxon test was used for paired data. RESULTS: Patients treated with biofeedback therapy presented shorter anal canal, greater pressure in the rectal ampulla (P < 0.001), decreased pressure in the anal canal (P < 0.05), lesser distension of the EAS on provoking RAIR, lower presence of the continence reflex (P < 0.01), lower rectal sensitivity, and a worse response of the striated sphincteric muscle and of the defecatory maneuver (P < 0.001). Seventy-eight percent of the patients had a good response to biofeedback therapy. Pressure in the anal canal and rectal sensitivity improved (P < 0.001) with normality on straining in 11 out of 15 patients. These good results persisted in a long-term follow-up of 10 patients. Eight of 10 patients who did not undergo biofeedback therapy showed persistent encopresis (P < 0.001). CONCLUSIONS: Anorectal manometry detected disturbances, chiefly in the activity of the EAS, which are useful in indicating biofeedback therapy in children with secondary encopresis. Biofeedback therapy seems to produce favorable long-term results in the majority of the most severely affected patients.

[Re-education of the anal sphincter in patients with myelomeningocele]. / Reeducación del esfínter anal en el mielomeningocele.

OBJECTIVE: The aim of this study was to analyze the usefulness of biofeedback techniques based on manometrical procedures in the treatment of defecation disorders in patients with myelomeningocele. PATIENTS AND METHODS: We studied 24 patients with myelomeningocele, aged 13 days to 15 years, who were referred to our Instrumental Diagnosis Unit for evaluation of anorectal function, or constipation and/or fecal incontinence study. Biofeedback was given to 12 patients who fulfilled the following criteria: age more than 5 years, existence of anorectal sensitivity with a perceptual threshold of less than 60 ml of rectal expansion, ability to contract and relax the gluteus muscles and thus be able to exercise pressure on the anal margin, and collaboration on the part of child and the family. As a complement defecatory maneuvers were performed. RESULTS: Between 4 and 65 sessions took place (35.14 19.97) after which rectal perceptual volume decreased from 24.66 14.13 to 3.33 2.95 ml and pressure on the anal margin increased from 45.62 17.82 to 114.37 13.99 mmHg. These differences were statistically significant (p < 0.001). Clear clinical improvement was produced in 10 of 12 patients who achieved good fecal continence with spontaneous depositions. Partial improvement was produced in 2 patients. CONCLUSIONS: We consider that biofeedback based on manometrical procedures is more useful than other conservative therapies in the treatment of defecatory problems in patients with myelomeningocele. In most patients this technique produces clinical improvement with satisfactory continence and without the drawbacks of other procedures.

[Comparative study of different methods of pleural drainage in an experimental model of pneumothorax]. / Estudio comparativo de distintos métodos de drenaje pleural en un modelo experimental de neumotórax.

OBJECTIVE: To observe the usefulness of several procedures for draining pneumothorax in an animal model and to identify the best pleural drainage system with minimal impairment of respiratory function. METHOD: Thirty-four New Zealand white rabbits weighting 1687 +/- 78 g and aged a mean 59 days were randomly placed in groups as follows. Unilateral pneumothorax was induced in the first problem group (P1) rabbits (n = 10) by thoracostomy, with pleural drainage. In the second problem group (P2) of rabbits (n = 10), bilateral pneumothorax was similarly induced by thoracostomy with pleural drainage. The control groups underwent unilateral (C1; n = 7) and bilateral (C2; n = 7) thoracostomy and drainage. Every 7 minutes the chest tube was connected successfully in each animal to an underwater seal with a dead-space volume of 35.58 ml (neonatal Bülau unit) or to a 3,940 ml system (chest drainage unit) and to pleural aspirations of -5 and -20 cmH2O. We analyzed mortality, fluctuations of the hydrostatic column of the underwater seal, heart rate (HR), respiratory rate (RR), PaCO2, SaO2, pH and arterial blood gas measures. RESULTS: Intraoperative mortality was significantly higher (particularly in the P2 group) when connection was to a large volume system without aspiration. Recovery after pneumothorax was more satisfactory with aspiration of -5 and -20 cmH2O. CONCLUSIONS: The results suggest that a pleural drainage unit with a large dead space between the pleural cavity and the underwater seal is a frequent cause of respiratory failure or insufficiency. We believe that when an underwater seal without pleural suction is applied, the Bülau unit should be used with the smallest possible volume.

[Malignant head-neck fibrous histiocytoma in an infant]. / Histiocitoma fibroso maligno cérvico-craneal en un lactante.

We describe one case of malignant fibrous histiocytoma variant myxoid in an eight month old infant. A review of the etiology of this tumor is made. Its unusual presentation in the cervical-cranial region may induce to misdiagnosis with lymphangioma in this location.

[Third and fourth cervical pouches remnants and branchial clefts]. / Restos cervicales de las bolsas y hendiduras branquiales tercera y cuarta.

We present our experience with nine patients who were operated on for having cervical cysts lesions with the purpose of providing more information about this type of pathology. Five patients presented a left low-jaw cervical mass, diagnosed in the neonatal period. All of them presented with respiratory distress and in four of them quick local inflammatory manifestations appeared. A plain radiograph demonstrated liquid and air in the lesion and we proceeded to the operation. We made four drainages with marsupialization and in another patient complete excision of the lesion was made. Two marsupializations closed spontaneously and the other two had to be reoperated for excision of a pharyngo-cutaneous fistula. In the wall of the cyst there were thyroid-follicles, considering them remnants from the fourth branchial pouch. Three patients were diagnosed at one, two and five years of age respectively with a cervical mass and were operated on with complete excision. Due to its anatomic situation and lack of relation with other structures, we thought as probably deriving from the cervical sinus. In one patient who presented a mass in the inner side of the sternocleidomastoid muscle, complete excision of the lesion was made which had a tract joining the piriform sinus area, and thymic and thyroid tissue, being diagnosed as a cervical thymic cyst. All the patients cured with the complete excision. The anatomic situation ot these lesions and their connexions with next structures provide the best data to know their probable embrionary origin.

[The hair-thread tourniquet syndrome of the toes and penis]. / Sindrome del torniquete por cabellos o hilos en dedos y pene.

We present eight cases of the hair-thread tourniquet syndrome which affected the toes in 6 cases and presented strangulation of the penis in two. All patients were infants and the mechanism of injury was the strangulation by hair or thread wrapped around an appendage. Neither lesions were promptly recognized by their physicians and the patients were seen in the emergency room with swelling, erythema and a circumferential scar with the typical distal edema. The lesions had ischemic signs, but without tissue necrosis. All patients were treated by immediate removal of the constricting fibers and sometimes a simple vertical, short and deep incision over the area of strangulation, avoiding injury to tendons and digital nerves and vessels, was performed. The potential risk of amputation and the need for a premature diagnosis and treatment are stressed.

[Ovarian cysts in childhood]. / Quistes de ovario en la infancia.

It's perform a descriptive study about a series of events with the purpose of discover the own characteristics of ovarian cysts and which characteristics determine its treatment. In the 41 patients (10 newborn, 14 prepubertal females and 17 post-menarchal females) we analyzed their symptoms, pathological findings, ecographics details, treatment, diagnostic and follow-up. The predominant symptom has been the abdominal pain (18 patients). In 8 newborn the cyst was find before born by prenatal sonography. The cyst was palped like abdominal mass in 22 patients and it was like a picture of acute abdomen in 11. It was found in the right ovary in 24 patients and bilaterally in 7. By pelvic ultrasonography was observed a superior size of 5 cm of diameter in 28 occasions, in 17 there were imagine of complex and in 3 there were hemorrhagic. In 16 patients the suspicion diagnostic was of torsion and in 5 of appendicitis. The torsion was confirmed in 11. In 16 patients it was a follicular cyst, in 9 was a dermoidal and in 9 hemorrhagic. Was realized a surgical treatment (cystectomy or ooforectomy in 36 girls, in 4 was realized a puncture and evacuation (bigger of 5 cm with clear liquid) and in 7 was hope the spontaneous evolution (clear liquid and infer size of 5 cm). There were not relapses. The clinic manifestations are presents with own characteristics depending of the cyst affected to newborn, premenarchal or menarchal females. The indications of surgery are: symptoms which are not resolved after a observation time (24-49 hours) and cysts of big volume associated a complications.(ABSTRACT TRUNCATED AT 250 WORDS)

[The clinical characteristics of patients with torsion of the testicular and epididymal appendages]. / Características clínicas en pacientes con torsión de los apéndices testiculares y epididimarios.

With the aim of describe a typology that will result in a more precise diagnostic which in turn will permit the selection of the most direct method approach, an analysis was made of the clinical characteristics of patients we treated due to the presence of torsion of the testicular and epididymal appendages. A retrospective review was made of 91 patients, taking into account this age, time of appearance, time of evolution, symptoms, physical examination, histological study and effects. The average age was 9.47 years with a greater incidence occurring between the eight and twelve years old. No influence due to a seasonal phase was detected. The time span between the initial appearance of the symptoms and the time of admittance was 39.5 hours, being somewhat less in patients below the age of six. The common symptom was pain. In addition, 58.2% of the patients also suffered scrotal affectation. In 31 patients the hydatid was palpable and in 19 the "blue dot sign" rendered positive. In 83 cases, surgery was done via the scrotum, resulting in the confirmation of the initial diagnosis. The affectation of the left side was more frequent (62.5%). The hospital discharge was possible in less than 48 hours with no visible long-term effects. Thus, we believe that it is possible to almost always make a diagnosis based on the clinical data, and the type of treatment to be applied should be the extirpation of the hydatid to be carried out via the scrotum.

Ano-rectal malformation and recurring orchioepididymitis in infants.

The case of a newborn boy is reported, incorrectly diagnosed as anal agenesis without urethrae fistula and treated by anoplasty. The patient later suffered several episodes of urinary infection and left epididymo-orchitis-orchioepididymitis, reflux of contrast being shown at micturating cystourethrography into the right vas deferens, the seminal vesicle, epididymis and left testicle. Rectal endoscopy revealed a rectourethral fistula, confirmed by fistulography. The patient improved after surgical removal of the fistula.

[Methods of assessing postoperative pain in children]. / Métodos de valoración del dolor postoperatorio en el niño.

A study of the evaluation of postoperative pain in 210 children using physiological, reference and observation methods. A comparison with other methods leads to the conclusion that observation is the best choice and that some children do not need analgesics during the postoperative period.