The sensitivity of acoustic cough recording relative to intraesophageal pressure recording and patient report during reflux testing.

BACKGROUND: One of the primary indications for reflux testing with multichannel intraluminal impedance with pH (pH-MII) is to correlate reflux events with symptoms such as cough. Adult and pediatric studies have shown, using cough as a model, that patient report of symptoms is inaccurate. Unfortunately, intraesophageal pressure recording (IEPR) to record coughs is more invasive which limits its utility in children. The primary aim of this study was to validate the use of acoustic cough recording (ACR) during pH-MII testing. METHODS: We recruited children undergoing pH-MII testing for the evaluation of cough. We simultaneously placed IEPR and pH-MII catheters and an ACR device in each patient. Each 24 h ACR, pH-MII, and IEPR tracing was scored by blinded investigators. Sensitivities for each method of symptom recording were calculated. KEY RESULTS: A total of 2698 coughs were detected; 1140 were patient reported PR, 2425 were IEPR detected, and 2400 were ACR detected. The sensitivity of PR relative to ACR was 45.9% and the sensitivity of IEPR relative to ACR was 93.6%. There was strong inter-rater reliability (κ = 0.78) for the identification of cough by ACR. CONCLUSIONS & INFERENCES: Acoustic recording is a non-invasive, sensitive method of recording cough during pH-MII testing that is well suited for the pediatric population.

The presence of pepsin in the lung and its relationship to pathologic gastro-esophageal reflux.

BACKGROUND: Pepsin has been proposed as a biomarker of reflux-related lung disease. The goal of this study was to determine (i) if there is a higher reflux burden as measured by pH-MII in patients that are pepsin positive in the lung, and (ii) the sensitivity of pepsin in predicting pathologic reflux by pH, MII, and EGD. METHODS: We recruited children between the ages of 1-21 with chronic cough or asthma undergoing bronchoscopy, esophagogastroduodenoscopy (EGD), and multichannel intraluminal impedance (pH-MII) probe placement. The reflux profiles were compared between those patients who were pepsin positive and negative; proportions were compared using Chi-squared analyses and means were compared using t-testing. KEY RESULTS: Only the mean number of non-acid reflux events was associated with pepsin positivity (0.04). The sensitivity and specificity of pepsin in predicting pathologic reflux by pH-MII or EGD was 57% and 65%, respectively. The positive predictive value of pepsin in predicting pathologic reflux by pH, MII or EGD was 50% (11/22), and the negative predictive value was 71% (20/28). There was a significantly higher mean LLMI in patients who were pepsin positive compared with pepsin negative patients (81 ± 54 vs 47 ± 26, P = 0.001). CONCLUSIONS & INFERENCES: Lung pepsin cannot predict pathologic reflux in the esophagus, but its correlation with lung inflammation suggests that pepsin may be an important biomarker for reflux-related lung disease.

The lipid laden macrophage index as a marker of aspiration in patients with type I and II laryngeal clefts.

OBJECTIVES: Laryngeal clefts are uncommon congenital anomalies that may cause pulmonary aspiration, leading to considerable morbidity including recurrent pneumonias. The lipid laden macrophage index (LLMI) is a potential marker of pulmonary aspiration. The objective of this study was to assess the utility of the lipid laden macrophage index as a marker of severity of pulmonary aspiration in children with laryngeal clefts and its role in the management of these patients. METHODS: An institutional review board approved retrospective review of all patients with laryngeal cleft who had also underwent direct laryngoscopy with rigid bronchoscopy and flexible bronchoscopy with bronchoalveolar lavage. The LLMI was measured from the lavage and compared to clinical and radiological data. RESULTS: Forty-four patients with laryngeal clefts (31 type I clefts and 13 type II clefts) underwent assessment with flexible bronchoscopy and bronchoalveolar lavage. The median age at first outpatient visit in our Center for Aero-digestive Disorder was 0.92 years in patients with type I clefts and 1.66 years in patients with type 2 clefts. All patients in this study had at least one modified barium swallow (MBS) performed to assess for aspiration. The mean LLMI was significantly higher in patients with type II (mean+/-SEM) 81.8+/-11.9 clefts compared to type I clefts 44.9+/-5.6. CONCLUSIONS: We recommend obtaining LLMI in patients with laryngeal cleft. The lipid laden macrophage index is increased in patients with more severe laryngeal clefts, thus potentially predicting those patients whom would most benefit from early surgical intervention.

Diabetes mellitus in newborns and infants.

Diabetes mellitus is uncommon in infancy and newborn period. The two common forms seen are the transient and permanent forms of diabetes mellitus of the newborn. They have to be differentiated from the transient hyperglycemic states (Blood sugar > 125 mg/dl) seen in newborns who receive parenteral glucose infusions and in those with septicemia and CNS disorders. Transient diabetes mellitus of the newborn (TDNB) is defined as hyperglycemia occurring within the first month of life lasting at least 2 weeks and requiring insulin therapy. Most of these cases resolve spontaneously by 4 months. It has a reported incidence of 1 in 45,000 to 60,000 live births. The most likely etiology is a maturational delay of cAMP mediated insulin release. The clinical features include small for datedness, proneness for birth asphyxia, open-eye alert facies, dehydration, emaciation, polyuria and poydipsia. These children are prone to septicemia and urinary tract infections. They have hyperglycemia, glucosuria, absent or mild ketonuria, low basal insulin, C-peptide and IGF-1 levels. Treatment consists of hydration and judicious administration of insulin with close monitoring. Thirty percent of these children are likely to develop permanent neonatal diabetes. Compared to transient form, permanent diabetes mellitus is uncommon. It is usually due to pancreatic dysgenesis often associated with other malformations and rarely due to type 1 diabetes mellitus. The diagnosis is based on the demonstration of both exocrine and endocrine pancreatic dysfunction. These children are managed as type 1 diabetes mellitus. They are prone to develop the vascular complications of diabetes at an earlier date.

Management of undescended testis.

The term cryptorchidism indicates a testis, which has failed to descend to the scrotum and is located at any point along the normal path of descent or at an ectopic site. Hormones play a pivotal role in testicular descent except during the migration to the level of internal inguinal ring. Cryptorchidism is present in about 4.5% of newborns with a higher incidence in preterms. The incidence decreases to 1.2% by the first year. It is classified as palpable and impalpable. The most common site of an ectopic testis is superficial inguinal pouch. Retractile testis is often bilateral and most common in boys between 5 and 6 years of age. Hypospadias and inguinal hernias are the most common associated anomalies seen with undescended testis. A thorough clinical examination helps in arriving at the etiology. A short hCG stimulation test helps to exclude anorchia. Different imaging techniques are of little help in diagnosis and require the help of an experienced radiologist. Laparoscopy has an important role in the diagnosis and management of undescended testis. The common complications include torsion and atrophy of testis. Infertility is seen in about 40% of unilateral and 70% of bilateral cryptorchidism. Undescended testis is 20 to 40 times more likely to undergo malignant transformation than normal testis. Both hCG and GnRH have been used with limited success in these children. All boys with cryptorchidism should be referred to a pediatric surgeon before 2 years of age. These children should be followed up every year after surgery to identify testicular tumors.

The child with micropenis.

Micropenis refers to an extremely small penis with a stretched penile length of less than 2.5 SD below the mean for age or stage of sexual development. It should be differentiated from a buried or hidden penis and aphallia. It is important to use a standard technique of stretched penile measurement and nomograms for age to identify children with micropenis. All children above 1 year of age with a stretched penile length of less than 1.9 cm need evaluation. Based on etiology they can be classified as hypogonadotropic hypogonadism (hypothalamic or pituitary failure), hypergonadotropic hypogonadism (testicular failure), partial androgen insensitivity syndrome and idiopathic groups. The help of a pediatric endocrinologist, geneticist, pediatric surgeon and/or urologist is often necessary. Growth velocity is an important determinant of associated hypothalamic or pituitary pathology. GnRH and/or hCG stimulation tests are often helpful in evaluating the etiology. Similarly chromosomal studies are indicated in a few. Often the diagnosis is inferred by the presence of clinical features suggestive of a syndrome usually associated with hypogonadotropic hypogonadism. Irrespective of the underlying cause a short course of testosterone should be tried in patients with micropenis and an assessment of the penis to respond should be made. Transdermal DHT has also been reported to be effective in prepubertal children. Children with hypopituitarism and GH deficiency respond to appropriate hormonal therapy. Surgical correction is not indicated in the common endocrine types of micropenis. Many studies have shown that most testosterone treated children have satisfactory gain in length of penis and sexual function. Thus sexual reassignment is done very infrequently now.