Congenital hypothyroidism with gland in situ: diagnostic re-evaluation.

In the past, most congenital hypothyroidism (CH) children with thyroid gland in situ were considered to be affected by hormonogenesis defect. Nowadays, the improved sensitivity of neonatal screening, novel insights into the pathogenic mechanisms and the advances of genetic analyses have reopened the discussion about the etiology of CH with thyroid in situ. We report the etiological re-evaluation of 31 children with thyroid in situ, who had been identified by the CH screening program. The purposes of this re-evaluation were: a) to investigate the definitive diagnosis and pathogenetic mechanism of CH with thyroid in situ in eligible children suspected of dyshormonogenetic defect and b) to verify the adequacy of the treatment schedules. Thirty out of 31 children were affected with permanent hypothyroidism and only one child was euthyroid at re-evaluation (transient CH). Thyroid hormone organification defects were present in less than half of the CH patients with thyroid in situ (13/30); a higher prevalence of partial defects of iodine organification than severe or complete forms was found. An inactivating TSH-receptor gene mutation was found in only one patient without iodine organification defect. Some questions remain unanswered concerning the adequacy of the schedules of treatment, particularly about the proper treatment of mild and borderline forms of CH.

Assessment of skeletal maturation in infants: comparison between two methods in hypothyroid patients.

BACKGROUND: Conventional skeletal radiography is the standard technique for assessing skeletal age. However, radiography cannot demonstrate cartilage and is therefore of lesser value in infancy when the ossification centres are composed mainly of cartilage. By comparison, US clearly demonstrates cartilage and bone. OBJECTIVE: In the present study, we compared radiography and sonography for the assessment of skeletal age in neonates and infants. MATERIALS AND METHODS: Because delayed skeletal maturation is a feature of congenital hypothyroidism and assessment of skeletal age is routinely performed in our centre, we studied 55 hypothyroid infants (aged 7-66 days). AP radiographs and sonograms, acquired using high-frequency scanners, were obtained and dimensions of the distal femoral epiphyseal ossification centre (DFE) were compared. RESULTS: Measurements of DFE by the two methods showed excellent correlation (R = 0.94, P = 0.0001). Radiographs did not demonstrate a DFE in 11 infants, and US did not show it in 6. In no infant did radiography demonstrate DFE not seen by US. Moreover, DFE dimensions on US were larger than those measured on radiographs. Infants with absent thyroid gland had a DFE significantly smaller than those infants with ectopic or normally placed glands (P < 0.001), on both radiographs and sonograms. CONCLUSION: Our data suggest that sonography is a valid alternative to standard radiography for the assessment of skeletal age in infants.

Multiple insulinomas of the pancreas: a patient report.

Whereas there is general agreement about the biochemical diagnosis of hyperinsulinism, the value of imaging to differentiate diffuse from focal pancreatic lesions is still a matter of debate. We describe a case of multiple adenomas of the pancreas in an eleven year-old boy. The source of hyperinsulinism was detected by pancreatic ultrasound examination and confirmed by MRI as a single adenoma of the pancreas. These radiological exams did not identify three other pancreatic adenomata. Our report outlines the difficulties in anatomically localizing the source of excessive insulin secretion in cases of hyperinsulinemic hypoglycemia.

[Is echography an adequate method for assessing the thickness of intra-abdominal fat? A comparison with computed tomography]. / L'ecografia è una metodica adeguata per la valutazione dello spessore del grasso intraaddominale? Confronto con la Tomografia Computerizzata.

PURPOSE: The methods to measure intraabdominal fat amount and to distinguish visceral from subcutaneous fat are useful and needed because visceral obese people are at risk of developing cardiovascular disorders. We investigated US capabilities in measuring intraabdominal fat thickness and distribution distinguishing visceral from subcutaneous fat. The results were compared with those obtained with CT, the gold standard, and with the waist-hip ratio (W/H). MATERIAL AND METHODS: Thirty obese women admitted to the Internal Medicine I Department, Ospedale S. Raffaele (Milan, Italy) were examined. The patients, aged 18-60 years and with BMI ranging 29.0-47.3, were submitted to consecutive double blind measurements with US and CT. The following anthropometric values were compared for every patient: W/H, US visceral/subcutaneous thickness, CT visceral/subcutaneous thickness, CT visceral area, CT subcutaneous adipose area and CT visceral/subcutaneous adipose area. RESULTS: The classification of visceral obesity by W/H (> .85) was confirmed by CT visceral/subcutaneous adipose area (> .491). The W/H correlated significantly with CT visceral/subcutaneous adipose thickness and CT visceral/subcutaneous adipose area (r = .52, p < .004; r = .51, p < .004), but not with US visceral/subcutaneous adipose thickness (r = .42, p < .06). Significant correlations were found between Ct visceral/subcutaneous adipose area and with both US and CT visceral/subcutaneous adipose thickness (r = .59, p < .006; = .71, p < .0001). A high correlation was found between US visceral/subcutaneous adipose thickness and CT visceral/subcutaneous adipose thickness (r = .96, p < .0001). CONCLUSION: Analyzing the results of the different methods, we conclude that US can always be used to study abdominal fat amount and distribution in obese women because this method exhibits significant correlations with CT, the gold standard. The W/H is not sufficient to distinguish visceral from subcutaneous intraabdominal fat.

[Current diagnostic-therapeutic trends in treatment of pediatric appendicitis]. / Attuali atteggiamenti diagnostici-terapeutici nel trattamento della appendicite in età infantile.

Acute appendicitis is the first cause of emergency surgery in children. Actually, emergency abdominal sonography has evolved in differential diagnosis of acute appendicitis in children to differentiate it from other causes of acute abdomen as mesenteric lymphoadenitis, acute right pyelonephritis, acute diverticulitis in Meckel's diverticulum, intestinal intussusception, regional enterits, primary peritonitis, anaphylactoid purpura of Henoch-Schonlein. The aim of this study is the evaluation of the usefulness of abdominal sonography in diagnosing acute appendicitis in our current series of pediatric patients. We have operated 102 patients afflicted by appendicitis admitted to the pediatric department of Ospedale San Raffaele, Milano in a period of 5 years and operated on for appendectomy. In the last 2 years 36 patients were evaluated with abdominal sonography. This diagnostic tool showed in 34 (94.4%) a liquid effusion, sometimes thick of the right iliac fossa. In 2 patients the appendix had thickened layers, was edematous and the lumen was clearly filled with debris. Abdominal sonography has given a clear cut picture of the acute inflammatory process of the appendix. None of these patients has suffered from septic or obstructive complications. Mean duration of hospital stay was 6.35 days (3-15 days). Differential diagnosis of acute appendicitis can be extremely variable, from simple, paradigmatic situations to the most intriguing ones. This concept is well emphasized by William Silen when he says that "differential diagnosis of acute appendicits is an encyclopedic compendium of every abdominal disease that causes pain" in the 11th edition of Harrison's Principles of Internal Medicine.(ABSTRACT TRUNCATED AT 250 WORDS)

High-pressure hemarthrosis: possible consequences to the vascularization of the femoral head.

The authors both detected hemarthrosis and calculated intraarticular pressure and blood supply to the femoral head using diagnostic tests (ultrasound, arthrography, manometric measurements, and bone scan tomography) in 18 patients with femoral neck fracture. The data obtained, in agreement with other reports in the literature, show a relationship between the condition of the joint capsule, the level of intraarticular pressure, and the arterial blood supply to the femoral head in cases of undisplaced or slightly displaced femoral neck fracture. The potential clinical implications are discussed.

[Neonatal common bile duct calculi. Description of a case]. / Calcolosi del coledoco neonatale. Descrizione di un caso.

Cholelithiasis as a cause of jaundice in the neonatal period is rare. We are going to describe a case of cholestasis with cholangitis due to calculus of choledochus. None of the causes favouring cholelithiasis described in medical studies proved to be present. The diagnosis was made through an ultrasonographic check of the upper abdomen. The case resolved spontaneously. Our case suggests a cautious attitude and careful clinical and echographic monitoring.

[Use of echocardiography for diagnosing anomalies of sex differentiation]. / Utilizzo dell'ecografia nella diagnostica delle anomalie della differenziazione sessuale.

Real-time ultrasonography of pelvic organs is a useful tool in diagnosing disorders in sexual development. US has proved to be rapid, accurate, non invasive method to visualize normal and pathologic pelvic structures and its role in intersex disorders lies in the capacity of demonstrate the anatomy of the genital and urinary tracts. The sonographic finding of feminine internal genitalia and bilateral enlargement of the adrenal glands in a newborn is suggestive for congenital adrenal hyperplasia (CAH) and allows to prevent the symptoms of a salt-losing syndrome.