Investigation of COVID-19 infection in subjects with Klinefelter syndrome.

PURPOSE: COVID-19 has worse clinical outcomes in males compared with females and testosterone may determine gender differences. Hypogonadism and supernumerary X chromosome may have a role in the SARS-CoV-2 infection in Klinefelter syndrome (KS). Aim of the study was evaluating COVID-19 frequency and severity in KS. METHODS: Participants were invited to complete a retrospective self-administered questionnaire containing multiple choice and open-ended answers. RESULTS: COVID-19 was detected in 10% of the evaluated KS subjects; none was hospitalized. 44.4% of COVID-19 patients had one cohabitant-infected versus 3% of non-infected (p < 0.01). Testosterone levels in infected patients were lower compared to those of non-infected subjects (3.1 ± 1.2 ng/ml vs. 5.2 ± 2 ng/ml, p < 0.05). CONCLUSIONS: The frequency of SARS-CoV-2 infection among KS subjects was 10%. All infected patients showed mild symptoms. The presence of one affected cohabitant significantly associated with SARS-CoV-2 infection. An association between SARS-CoV-2 and hypogonadism was confirmed.

GH/IGF-1 axis in a large cohort of ß-thalassemia major adult patients: a cross-sectional study.

PURPOSE: GH deficit (GHD) could represent an endocrine issue in ß-Thalassemia Major (ßTM) patients. GH/IGF-1 axis has not been extensively explored in ßTM adults, so far. We aim to assess GHD and IGF-1 deficiency prevalence in ßTM adult population, focusing on the relationship with liver disease. METHODS: Cross-sectional multi-centre study conducted on 81 adult ßTM patients (44 males, mean age 41 ± 8 years) on transfusion and chelation therapy. GHD was investigated by GHRH + arginine test. IGF-1 levels, routine biochemical exams, Fibroscan, Hepatic Magnetic Resonance Imaging (MRI) and pituitary MRI were collected. RESULTS: Eighteen patients were affected by GHD and 63 were not (nGHD) according to GHRH + arginine test, while basal GH levels did not differ. GHD was associated with a higher BMI and a worse lipid profile (p < 0.05). No significant differences were observed regarding liver function between the two groups. Pituitary MRI scan was normal except for one case of empty sella. The 94.4% and 93.6% of GHD and nGHD, respectively, presented lower IGF-1 levels than the reference range, and mean IGF-1 SDS was significantly lower in GHD patients. CONCLUSION: GHD is frequent in adult ßTM patients and is associated with higher BMI and worse lipid profile. nGHD patients present lower IGF-1 levels as well. There was no relationship between IGF-1 levels and liver disease. Further, multicentric studies with larger cohorts and standardized diagnostic protocols are needed.

Tumour-induced osteomalacia: 18 months of 2-weekly burosumab treatment.

Summary: Tumour-induced osteomalacia (TIO) is due to an overproduction of fibroblast growth factor 23 (FGF23) by mesenchymal tumours, causing hypophosphatemia, osteomalacia and muscle weakness. TIO is usually cured by tumour resection, but neoplasms may be unidentifiable and unresectable or the patient may refuse surgery. In these cases, medical treatment with oral phosphate and calcitriol is mandatory, but it is not fully effective and it is associated with low compliance. Burosumab, a human MAB against FGF23 employed to treat X-linked hypophosphatemia (XLH), has recently been approved for TIO in the USA. Maximum burosumab dose in XLH is 90 mg administered for 2 weeks; there are no data on clinical efficacy and safety of this dose in TIO. We reported the case of a 73 years old male with multiple non-traumatic fractures, low bone mineral density, pain and reduced independence of activities of daily living. Biochemical evaluation showed hypophosphatemia, high alkaline phosphatase (ALP) and C-terminal telopeptide (CTX) and normal albumin-corrected total calcium and parathyroid hormone. Tubular phosphate reabsorption was low (80%), whereas C-terminal tail of FGF23 (cFGF23) was elevated. A 68Ga-DOTATOC PET was performed, identifying a lesion in the first left rib. The patient refused surgery; therefore, burosumab therapy was started. After 18 months of treatment (maximum dose: 60 mg administered for 2 weeks), plasma phosphate normalized and ALP levels improved (138 U/L). Patient clinical symptoms as well as pain severity and fatigue improved. Neither adverse events nor tumour progression was reported during follow-up except for a painless fracture of the second right rib. Learning points: Our case shows efficacy and safety of burosumab treatment administered every 2 weeks in a tumour-induced osteomalacia (TIO) patient. After 18 months of treatment at a maximum dose of 60 mg every 2 weeks, we found plasma phosphate normalization and ALP reduction as well as improvement in clinical symptoms and fatigue. Neither adverse events nor tumour progression was reported during follow-up, except for a painless fracture of the second right rib.

Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?

Klinefelter syndrome (KS) is the most frequent sex chromosome aneuploidy in males. KS diagnosis disclosure has an important impact on diagnosis acceptance and the increase in prenatal diagnostic procedures raises questions regarding communication to children/adolescents. Limited data are currently available on this issue. The aim of the study was to investigate aspects like the best timing (when), topics (how), and healthcare professional (who), which, in the opinion of both KS patients and parents, may be considered the best for diagnosis communication to KS children/adolescents. We also analyzed how participants received the communication in real life and evaluated the differences between the responses given by parents who receive KS diagnosis before or after KS patient birth regarding disclosure of KS communication. KS adult patients, KS mothers, and KS fathers, not belonging to the same family, completed a questionnaire containing quantitative measures (5 points Likert scale), open-ended questions, and multiple choice questions. Parental responses were divided according to the timing at which the communication occurred: prenatal age diagnosis (PRE-D) or postnatal age diagnosis (POST-D). A total of 41 KS adults and 77 KS parents (53 PRE-D, 24 POST-D) were recruited. Most KS patients and most POST-D parents consider that communication should be provided before 14 years of age; most PRE-D parents consider 14-18 years of age the best period for communication. We suggest that communication should occur preferably before 18 years of age by a multidisciplinary team (endocrinologists, psychologists, geneticists, and parents) and that the information should deal not only fertility and hormonal aspects but also metabolic and cognitive features.

Variation of urinary enzymes N-acetyl-beta-glucosaminidase, alanine-aminopeptidase, and lysozyme in patients receiving radio-contrast agents.

A urinary enzyme pattern consisting of two lysosomal enzymes, N-acetyl-beta-glucosaminidase and lysozyme, and one enzyme originating from kidney tubular brush border membrane, alanine-aminopeptidase, were studied in 30 patients undergoing intravenous urography and arteriography. N-acetyl-beta-glucosaminidase and lysozyme showed the greatest diagnostic sensitivity and were still abnormal on the fifth day after the administration of radio contrast agent. The results, which are statistically significant (Student's t test), suggest that radio-contrast agents are potentially nephotoxic.

Diagnostic significance of urinary enzymes: development of a high performance liquid chromatographic method for the measurement of urinary lysozyme.

We describe a new high pressure liquid chromatography (HPLC) method for quantitative determination of urinary lysozyme. The method is simple, reproducible and with detection limit of 0.2 microgram. Before HPLC analysis the urine was purified using a Sep-Pak C18 cartridge. Lysozyme concentration was significantly higher in patients with chronic renal failure than in a control group (p less than 0.001). The concentration of lysozyme in urine is shown to be a sensitive indicator of renal damage.

[Urinary enzymes: early biochemical indicators in the biological monitoring study of subjects exposed to styrene]. / Gli enzimi urinari: indicatori biochimici precoci nello studio del monitoraggio biologico in soggetti esposti a stirene.

This paper studies the urinary enzymes N-acetyl-beta-glucosaminidase (NAG) and alanine aminopeptidase (AAP) in workers exposed to styrene. It is possible to consider these enzymes as early biochemical indicators of renal damage, owing to their ability to show alterations in the renal tubule when the creatinine clearance is still in the normal range. This preliminary study shows an increase in the two enzymes in workers exposed to styrene.

The flexible sigmoidoscope as a potential vector of infectious disease, including suggestions for decontamination of the flexible sigmoidoscope.

The flexible fiberoptic sigmoidoscope has gained widespread acceptance as a diagnostic tool in the detection and diagnosis of colorectal disease. Since its introduction nearly a decade ago, studies have thus far indicated that in the hands of experienced physicians, flexible sigmoidoscopy is a safe procedure affording greater patient comfort, greater depth of insertion, and a higher yield of neoplastic lesions than rigid sigmoidoscopy, with surprisingly few associated risks. Although reported infrequently, infection is an acknowledged risk of flexible sigmoidoscopy and other endoscopic procedures. The most efficient means of preventing endoscopy-associated infection is uncompromising aseptic practice. Clinical and experimental data obtained from studies designed to investigate endoscopic transmission of infectious organisms and from our own and others' experiences are reviewed. Guidelines for achieving high-level disinfection of the flexible fiberoptic sigmoidoscope are included.

Managing patient education: a perspective for the 1990s.

Changes in the delivery and complexity of health care make it imperative that the patient and family are provided with the information needed to make intelligent decisions and choices about health care alternatives. The intent of this paper is to outline the nurse manager's responsibilities for patient education and to provide a practical framework by which to structure patient teaching programs. Although the philosophies of self-care and self-determination are outlined and provide the primary orientation to the concept of patient education, the description of the nurse manager's clinical and aggregate skills provide both the training and practice guidelines.

Managing change: a practical perspective for the gastroenterology laboratory.

Insuring the quality of practice in our work environments is a concern shared by nurse managers and staff members alike. As in other areas of practice, improving quality involves changing practice to overcome problems of effectiveness and efficiency. In the following review article, change is defined, its salient characteristics are discussed, and its various models are described.

Enterococcal nosocomial infection: epidemiology and practice.

Caring for patients susceptible to enterococcal infections is a part of practice for nurses working in today's hospital units. While enterococci are not particularly virulent organisms, they are well suited to causing infection in hospitalized patients, especially in the very old, the seriously ill, and the immunosuppressed. Despite increased understanding of the clinical threat posed by multiresistant strains of enterococci, the incidence of nosocomial enterococcal infection is growing. In this article the author examines the epidemiology and risk factors for colonization and infection with enterococcal bacteria and provides a brief review of antibiotic sensitivities for the organisms. A case study illustrates the course and consequence of infection with multiresistant enterococcus for the seriously ill patient. The importance of education of health professionals in prevention and control of enterococcal infection and superinfection is discussed.

Managing esophageal achalasia: medical and nursing implications.

Achalasia is a motility disorder of the esophagus characterized by total loss of esophageal peristalsis and by defective lower esophageal sphincter function. The etiology of achalasia is poorly understood. Achalasia occurs across the lifespan, but is uncommon in children. Most patients have progressive dysphagia for both liquids and solids. This article describes the symptoms of achalasia, its diagnosis, and treatment. The emphasis is on primary achalasia. Case studies illustrate common findings in patients with achalasia. The importance of patient education for effective management of this chronic illness is discussed.

Liquid-chromatographic determination of inosine, xanthine, and hypoxanthine in uremic patients receiving hemodialysis treatment.

We used a liquid-chromatographic method to measure xanthine, hypoxanthine, and inosine in plasma of uremic patients before and after hemodialysis. The concentrations of all three were higher than in normal subjects. After dialysis treatment, the values were significantly lower than before dialysis, but still above normal.

Serum N-acetyl-beta-glucosaminidase activity in breast cancer.

N-acetyl-beta-glucosaminidase (NAG) and its isoenzymes were measured in 60 patients with breast cancer and in 30 patients suffering from benign breast tumors. NAG activity was significantly increased (P < 0.001) in cancer patients. The concentration of isoenzyme A always exceeded that of isoenzyme B, but isoenzyme B concentration was significantly (p < 0.001) higher in patients than in controls. An intermediate form, I, was more evident but not significant in patients. Evaluation of the predictive value of the NAG isoenzyme B, revealed a good sensitivity, efficiency and specificity. It seems from this study that the determination of the isoenzyme NAG B activity may be useful for better diagnosis of breast cancer.

N-acetyl-beta-glucosaminidase isoenzymes in serum and urine of patients with diabetes mellitus.

The isoenzyme pattern of N-acetyl-beta-glucosaminidase (NAG) in serum and urine was studied in two groups of patients with diabetes mellitus and in 30 control subjects. Total NAG activity was significantly (P less than 0.001) increased in the serum and urine of the 20 diabetics with vascular complications, but was insignificantly increased in the 20 diabetics without vascular complications. Ion-exchange chromatography demonstrated the presence of two major isoenzymes of NAG, A and B. The proportion of isoenzyme A activity always exceeded that of isoenzyme B. The proportion of isoenzyme B in serum of diabetics was lower than in controls; the reverse was true for urine of diabetics. The NAG isoenzymes pattern may provide additional diagnostic information regarding diabetic status and complications of diabetes.

[Values and limitations of the radioimmunological determination of plasma parathyroid hormone in the study of the functional activity of the parathyroid glands]. / Valori e limiti del dosaggio radioimmunologico del paratormone plasmatico nello studio dell'attivita' funziona le delle ghiandole paratiroidi.

Aim of the present study was to establish the limits and difficulties prevailing in RIA of PTH due to different specificity of antisera. Studies were carried out on normal volunteers and 36 patients with primary hyperparathyroidism (HPT) employing two different assay techniques a) 211/32 antiserum from Wellcome Lab. and b) Immuno Nuclear Corporation Kit. Plasma iPTH values were higher in most primary HPT patients than in normal subjects with both techniques. It is possible nevertheless to differentiate the primary HPT patients with normal plasma iPTH values from normal subjects by correlating plasma iPTH values with corresponding serum calcium values.

Clinical evaluation of serum N-acetyl-beta-D-glucosaminidase as a liver function test.

Serum N-acetyl-beta-D-glucosaminidase has been shown to be a sensitive indicator of liver function. The enzyme activity in serum from patients with different forms of hepatic disease was found to be elevated. A comparison is also made with routine liver parameters. The frequencies of pathological serum levels of the routine measurements made are in relatively good agreement with earlier reports.