Total osteocalcin levels are independently associated with worse testicular function and a higher degree of hypothalamic-pituitary-gonadal axis activation in Klinefelter syndrome.

PURPOSE: The role of osteocalcin (OCN) in pubertal development, male hypogonadism, and the effect of testosterone (Te) replacement therapy (TRT) remains unclear. We aimed to investigate the total OCN (tOCN) concentrations in male patients with Klinefelter syndrome (KS), a model of adult hypergonadotropic hypogonadism. METHODS: This retrospective longitudinal study investigated 254 male patients with KS (47,XXY) between 2007 and 2021 at an academic referral center, categorized as (1) prepubertal, (2) pubertal, and (3) adults. All prepubertal patients were Te-naïve. Adult patients were subcategorized as (1) eugonadal, (2) hypogonadal, and (3) receiving TRT. We also analyzed 18 adult patients with available tOCN levels before and 3 months after TRT commencement. RESULTS: The tOCN levels varied throughout the lifespan according to pubertal status, were highest in eugonadal and significantly lower in TRT subjects, correlated with both LH (p = 0.017) and FSH levels (p = 0.004) in adults, and significantly declined after 3 months of TRT (p = 0.006) in the adult KS cohort. HPG-axis hormones levels demonstrated no correlation in prepubertal boys. Adjustment for age and body mass index confirmed previous results and revealed significant inverse correlations with total Te (p = 0.004), calculated free Te (p = 0.016), the Te/LH (p = 0.010), and calculated free Te/LH ratios (p = 0.031). CONCLUSION: In KS, a model of male hypergonadotropic hypogonadism, tOCN levels were not associated with gonadal function during normal prepuberty and pubertal development but were associated with worse testicular function and a higher degree of HPG stimulation in adults. TRT acutely reduced tOCN levels in adults.

Adverse pathophysiological influence of early testosterone therapy on the testes of boys with higher grade sex chromosome aneuploidies (HGAs): a retrospective, cross-sectional study.

PURPOSE: Higher grade aneuploidies (HGAs) of the male sex chromosomes are a rare genetic group of pathologies caused by nondisjunction meiotic events. The aim of this study was to evaluate the impact of early androgenic therapy on the testicular secretory hormone profile, and the pathophysiological implications. PATIENTS AND METHODS: In this cross-sectional study, 18 HGA subjects aged 6-8 years were recruited. They were divided into two groups, based on whether or not they had previously undergone testosterone therapy (group 1: 11 untreated subjects; group 2: 7 treated subjects). Serum FSH, LH, testosterone (T), inhibin B (INHB) and anti-Müllerian hormone (AMH) were determined, and auxological parameters were assessed. Five group 1 patients and four group 2 patients were treated with hCG (human chorionic gonadotropin) for inguinal cryptorchidism; their hormone profile and auxological parameters were assessed both pre- and post-hCG treatment. RESULTS: Group 1 subjects showed significantly higher testicular volume and higher levels of AMH and INHB (p < 0.0001). Subjects who had undergone hCG therapy showed a significantly higher testicular volume, penis length (respectively, p = 0.008 and p = 0.0005 for group 1 and p = 0.04 and p = 0.001 for group 2) and T (p = 0.005 for group 1 and p = 0.004 for group 2). CONCLUSIONS: HGA patients undergoing early testosterone therapy show an earlier and persistent suppression of testicular secretory function. At this age, the testes are still responsive to stimulation with hCG. The selection of patients to be treated must be accompanied by a thorough clinical and hormonal evaluation.

First Lattice Calculation of the QED Corrections to Leptonic Decay Rates.

The leading-order electromagnetic and strong isospin-breaking corrections to the ratio of K_{µ2} and π_{µ2} decay rates are evaluated for the first time on the lattice, following a method recently proposed. The lattice results are obtained using the gauge ensembles produced by the European Twisted Mass Collaboration with N_{f}=2+1+1 dynamical quarks. Systematic effects are evaluated and the impact of the quenched QED approximation is estimated. Our result for the correction to the tree-level K_{µ2}/π_{µ2} decay ratio is -1.22(16)%, to be compared to the estimate of -1.12(21)% based on chiral perturbation theory and adopted by the Particle Data Group.

US and MRI features in venous vascular malformation of the abdominal wall. A case report.

Vascular anomalies are classified as vascular tumors and vascular malformations. Venous vascular malformations are the most common type of vascular malformation. They may be isolated or multiple and they rarely affect the trunk. The authors report a rare case of isolated venous vascular malformation of the abdominal wall with an emphasis on the related MRI and ultrasound (US) features.Vascular anomalies are classified as vascular tumors and vascular malformations. Venous vascular malformations are the most common type of vascular malformation. They may be isolated or multiple and they rarely affect the trunk. The authors report a rare case of isolated venous vascular malformation of the abdominal wall with an emphasis on the related MRI and ultrasound (US) features.

Angioma of the chest wall: A report of 2 cases.

Hemangiomas are benign congenital tumors of endothelial origin that are typically seen in childhood and that undergo spontaneous involution with time. They are usually found on the face or less commonly on the trunk. Very few cases of chest-wall angiomas have been reported. This report describes chest-wall angiomas in two children (a 7-year-old boy and a 1-year-old girl) with emphasis on their sonographic features.

Transient synovitis of the hip: Ultrasound appearance. Mini-pictorial essay.

We describe the ultrasound (US) appearance of transient synovitis. Transient synovitis of the hip typically occurs in 3 to 8-year-old children. The onset is clinically characterized by acute hip pain and limp with limited joint mobility, and the leg is usually held in a position of flexion and external rotation to avoid pain. US image is characterized by joint effusion in the hip joint anterior recess, as described in the literature. Our experience confirms the importance of the technique with which the US examination is performed. In order to obtain the best diagnostic information the hip must be examined with the patient in the supine position and the hip joint in a neutral position (abduction of the hip with extension and slight external rotation) by means of an anterior approach along the long axis of the femoral neck in the parasagittal plane.

Ultrasonography of the male breast.

The male breast has been insufficiently explored in the medical literature, particularly that dealing with ultrasonography, although this topic is almost as vast and varied as that of the female breast. The purpose of this article is to provide a schematic review of the most frequent breast lesions encountered in males and their sonographic appearances. After a brief introduction on the anatomy of the male breast, the authors review the non-neoplastic (gynecomastia, pseudogynecomastia, cysts, inflammatory diseases, and Mondor disease) and neoplastic (benign and malignant) lesions encountered in this organ.

Lymphoma of the scrotum in patients with Down's syndrome: US appearance. Mini-pictorial essay.

Down's syndrome is relatively common, and patients who are affected have an increased risk of developing acute leukemia, but not solid tumors. Studies performed in larger patient populations have shown that solid tumors, including lymphomas, are significantly less frequent in Down patients than in children and adults who are not Trisomy 21-affected.Testicular lymphomas are rare and extremely aggressive. Ultrasound (US) combined with color Doppler is essential in the diagnosis and evaluation of treatment results in these lesions. As they are very rare, it was decided to publish this mini-pictorial essay.

Tracheobronchial neuroendocrine carcinoma in a cat.

A tracheobronchial neuroendocrine carcinoma in a 10-year-old cat with a history of coughing, dyspnoea and anorexia is described. Endoscopic examination revealed a yellowish mass protruding into the trachea and partly obstructing the right bronchial lumen. Histological examination of biopsy samples revealed a hypercellular tumour consisting of sheets or ribbons of small hyperchromatic cells, with oval to spindle-shaped nuclei and minimal cytoplasm; nucleoli and mitotic activity were absent. The findings were confirmed on post-mortem examination. The small neoplastic cells were immunolabelled to varying degrees by antibodies against neuron-specific enolase, S-100 protein, synaptophysin and vimentin. Ultrastructural studies revealed scattered neurosecretory granules and scanty cellular junctional complexes, including desmosomes and tonofilaments, in neoplastic cells.

Granular cell tumour affecting the left vocal cord in a dog.

Granular cell tumours (GCTs) have been described in human vocal cords, but not in those of the dog. A single polyp in the left vocal cord, associated with laryngeal oedema and monolateral hyperplasia of the tonsil, was observed endoscopically in a 6-year-old male dog. Cytologically, the mass was characterized by well-defined polygonal cells, with granular cytoplasm and an eccentric nucleus. Histologically, the mass showed sheets of globoid to polygonal cells, filled with numerous diastase-resistant, periodic acid-Schiff-positive granules, and scanty stroma. Ultrastructurally, the granules were represented by heterogeneous lysosomes of variable size, suggesting a diagnosis of GCT. As reported in man, hyperplasia of the laryngeal and tonsillar epithelium and the presence of foci of pearl-like epithelial cells, mimicking invasive squamous cell carcinoma, were observed. Immunohistochemical examination revealed labelling of neoplastic cells for S-100 protein, CD68, collagen IV, and, focally, for glial fibrillary acidic protein, neuron-specific enolase and vimentin. These findings suggested a Schwann cell origin of the GCT.

Plasma chromogranin A in patients with autoimmune chronic atrophic gastritis, enterochromaffin-like cell lesions and gastric carcinoids.

OBJECTIVE: In atrophic body gastritis (ABG) chronic hypergastrinaemia stimulates enterochromaffin-like (ECL) cell proliferation with development of cell hyperplasia, dysplasia and possibly type-1 gastric carcinoids. As circulating chromogranin A (CgA) levels are a marker of neuroendocrine tumours, we evaluated the clinical usefulness of CgA assay in ABG patients to detect those with carcinoids. DESIGN AND METHODS: Plasma CgA levels were measured using a commercial ELISA in 45 healthy volunteers, nine patients with type-1 gastric carcinoids and 43 consecutive ABG patients (21 without and 22 with ECL cell hyperplasia/dysplasia). RESULTS: CgA levels were significantly higher in ABG patients with and without gastric carcinoids than in healthy subjects (P < 0.001). The highest values occurred in patients with carcinoids (median (interquartile range): 58.1 (44.5-65.3) U/l) and with ECL cell hyperplasia/dysplasia (35.5 (31.8-48.65) U/l) but there were no significant differences in CgA among the various subgroups of ABG patients classified according to ECL cell status. Nevertheless, in ABG patients without carcinoids CgA values correlated with the presence and severity of ECL cell lesions (r(s) = 0.428, P < 0.01). The sensitivity and specificity of the CgA assay in identifying patients with carcinoids were 100 and 23% respectively. CONCLUSIONS: CgA plasma levels reflect the histological degree of ECL cell lesions in patients with ABG but the assay specificity is too low to detect among these patients those with gastric carcinoids.

High frequency of anti-endomysial reactivity in candidates to heart transplant.

BACKGROUND: A possible link between coeliac disease and dilated cardiomyopathy has recently been suggested. AIMS: . To assess the frequency of anti-endomysial antibodies, the marker for coeliac disease, in patients with different forms of heart failure, and to establish the clinical features of those endomysial antibody positive. SUBJECTS AND METHODS: . A total of 642 consecutive patients entering the waiting list for heart transplantation from 1995 through 1997 were studied. The prevalence of endomysial IgA antibodies, determined by indirect immunofluorescence, was compared to that observed in three surveys conducted in the Italian general population. RESULTS: Of the 642 patients, 12 (1.9%; 95% confidence interval 0.97-3.2) resulted endomysial antibody positive, versus 34/9,720 healthy controls (0.35%; 95% confidence interval, 0.23-0.47), accounting for a relative risk of 5.3 (95% confidence interval, 2.8-10.3). Anti-endomysial antibodies were found in 6/275 patients with dilated cardiomyopathy and 6/367 with other forms of heart failure (2.2% versus 1.6%; 95% confidence interval 0.8-4.7 and 0.6-3.5), with no statistical difference. The 12 endomysial antibody positive patients were leaner (body mass index, 22.0 +/- 1.9 vs 24.2 +/- 3. 1, p<0. 05) than 36 seronegative patients matched for baseline demographics and aetiology of cardiomyopathy No differences were observed as regards clinical, biochemical and echocardiographic features, mortality in waiting list and 2-year post-transplant survival. CONCLUSIONS: Patients with end-stage heart failure are at increased risk for coeliac disease as compared to the general population.

Leishmania infantum and Neospora caninum simultaneous skin infection in a young dog in Italy.

Leishmania infantum, the agent of canine leishmaniasis in Mediterranean countries, and Neospora caninum, a recently recognized protozoal pathogen in dogs, were diagnosed in a 9-month-old Argentine Dogo dog. Both skin lesions and neurological signs were present. Histopathology of cutaneous lesions revealed a suppurative, diffuse dermatitis with numerous intracellular protozoa. Serology was positive for both L. infantum (1:640) and N. caninum (1:800). Double-label immunohistochemical staining of skin samples with hyperimmune serum from L. infantum-infected dogs was positive for protozoa within macrophages, while the polyclonal antibody specific for N. caninum showed positive reactions for protozoa in endothelial cells and fibroblasts. Transmission electron microscopy (TEM) confirmed the infection with both protozoa. This is, to the authors' knowledge, the first case of simultaneous infection with L. infantum and N. caninum in a dog. It is possible that the immunosuppressive effects of Leishmania infection or long-term steroid therapy may have been a contributing factor to the development of N. caninum in this dog.

Short vertical falls in infants.

OBJECTIVE: To define injuries from short vertical falls (SVF) in infants, and to compare those with minor or no injuries to those with significant injury. DESIGN: Descriptive, retrospective chart review. SETTING: Pediatric emergency department (PED) of an urban teaching hospital. SUBJECTS: Infants < or = 10 months treated between January 1990 and December 1992 presenting with a SVF (< or = 4 feet). RESULTS: 167 patients met the definition. The mean age was 5.2 months; 56% were male. The mechanisms of injury included rolling off a bed (55%), being dropped from a caretaker's arms (20%), rolling off a couch (16%), and falling from other objects (10%). The majority of patients (85 %) had minor or no injury. Significant injuries were sustained by 15% (n = 25), including 16 with a closed head injury (12 with skull fractures), two with intracranial bleed, and seven with a long bone fracture. Subsequently, the two patients with intracranial hemorrhages were confirmed as being from child abuse. After excluding cases of suspected abuse, the only characteristic found to be independently associated with significant injury was being dropped by the caretaker (odds ratio: 6.4 vs rolling or falling from furniture, 95% CI: 2.0, 21.5). CONCLUSION: The most common mechanism of a SVF was rolling off a bed. Most patients sustained minor or no injury. No child sustained an intracranial hemorrhage from a SVF. The child with intracranial injury and/or multiple injuries warrants an investigation. Being dropped appears to be a greater risk for significant injury than rolling off or falling from furniture.

Design of synthetic antimicrobial peptides based on sequence analogy and amphipathicity.

Novel alpha-helical antimicrobial peptides have been devised by comparing the N-terminal sequences of many of these peptides from insect, frog and mammalian families, extracting common features, and creating sequence templates with which to design active peptides. Determination of the most frequent amino acids in the first 20 positions for over 80 different natural sequences allowed the design of one peptide, while a further three were based on the comparison of the sequences of alpha-helical antimicrobial peptides derived from the mammalian cathelicidin family of precursors. These peptides were predicted to assume a highly amphipathic alpha-helical conformation, as indicated by high mean hydrophobic moments. In fact, circular dichroism experiments showed clear transitions from random coil in aqueous solution to an alpha-helical conformation on addition of trifluoroethanol. All four peptides displayed a potent antibacterial activity against selected gram-positive and gram-negative bacteria (minimum inhibitory concentrations in the range 1-8 microM), including some antibiotic resistant strains. Permeabilization of both the outer and cytoplasmic membranes of the gram-negative bacterium, Escherichia coli, by selected peptides was quite rapid and a dramatic drop in colony forming units was observed within 5 min in time-killing experiments. Permeabilization of the cytoplasmic membrane of the gram-positive bacterium, Staphylococcus aureus, was instead initially quite slow, gathering speed after 45 min, which corresponds to the time required for significant inactivation in time-killing studies. The cytotoxic activity of the peptides, determined on several normal and transformed cell lines, was generally low at values within the minimum inhibitory concentration range.

[Cefotetan treatment of suppurative bronchopulmonary syndromes sustained by anaerobic germs]. / Trattamento con cefotetan delle sindromi suppurative bronco-polmonari sostenute da germi anaerobi.

The Authors have analyzed the effect of Cefotetan in 20 patients affected by bronchopulmonary pathologies supported by anaerobic bacterium. During 7 days doses of 50 mg. pro Kg/pro die were given. From beginning to end of the treatment clinical, hematochemical and radiological data were evaluated. Bacteriological analysis was made on samples drawn with BFS according to a traditional method and with microbiology specimen brush. Almost all the patients (95%) realized improvements in clinical symptomatology and in radiological picture.

[Obstructive bronchopneumopathies in respiratory pathology in Taranto. Epidemiological data]. / Le broncopneumopatie ostruttive nella patologia respiratoria a Taranto. Dati epidemiologici.

The above epidemiological study was undertaken with the object of establishing the proportion of respiratory pathology represented by chronic bronchopulmonary obstructive bronchitis, emphysema, bronchial asthma in a highly industrialized city such as Taranto. The period covered was the years 1988, 1989 and first half of 1990. In addition, the distribution of chronic obstructive bronchopulmonary disease according to sex and age and the influence of smoking were analyzed.