- Gastrointestinal disorders in Down syndrome. [Journal Article]
- AJAm J Med Genet A 2019 Jun 10
- Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to …
Down syndrome is the most common human chromosomal disorder. Among clinical findings, one constant concern is the high prevalence of gastrointestinal system alterations. The aim of this study was to determine the prevalence of gastrointestinal disorders at a Down syndrome outpatient clinic during a 10-year follow-up period. Data from medical files were retrospectively reviewed from 1,207 patients. Gastrointestinal changes occurred in 612 (50.7%). The most prevalent disorder was chronic intestinal constipation. Intestinal parasite occurred in 22% (mainly giardiasis), gastroesophageal reflux disease in 14%, digestive tract malformations occurred in 5%: 13 cases of duodenal atresia, 8 of imperforate anus, 4 annular pancreases, 2 congenital megacolon, 2 esophageal atresias, 2 esophageal compression by anomalous subclavian and 1 case of duodenal membrane. We had 38/1,207 (3.1%) patients with difficulty in sucking and only three with dysphagia that resolved before the second year of life. Peptic ulcer disease, celiac disease, and biliary lithiasis were less prevalent with 3% each. Awareness of the high prevalence of gastrointestinal disorders promotes outstanding clinical follow-up as well as adequate development and greater quality of life for patients with Down syndrome and their families.
- Two-Dimensional Shear-Wave Elastography for Kidney Stiffness Assessment. [Journal Article]
- UQUltrasound Q 2019 May 30
- This study aimed to analyze the utility of bidimensional shear-wave elastography for renal assessment and in the prediction of chronic kidney disease (CKD).The study included 92 subjects: 50 healthy …
This study aimed to analyze the utility of bidimensional shear-wave elastography for renal assessment and in the prediction of chronic kidney disease (CKD).The study included 92 subjects: 50 healthy volunteers and 42 patients with different degrees of CKD (mean age, 57.5 ± 13.4; 50% were female), excluding those undergoing renal replacement therapies, obstructive pathology, or renal lithiasis. We performed kidney shear-wave velocity (KSWV) determinations in the midportion of the parenchyma of each kidney. The median values were expressed in meters per second.We obtained successful assessments in 94% of the cases for the right kidney (RK) and 90.2% for the left kidney (LK), with an intraclass correlation coefficient of 0.96 (RK) and 0.91 (LK). We obtained significantly lower KSWV values in the CKD lot as opposed to the healthy volunteers: RK: 1.38 ± 0.1 versus 1.78 ± 0.1 m/s, P = 0.05; LK: 1.37 ± 0.1 m/s versus 1.72 ± 0.1 m/s. We could predict the presence of CKD with a sensitivity of 89.2% and a specificity of 76.9% for a KSWV of less than 1.47 m/s, with a tendency of KSWV to decrease with CKD progression.Our study shows that KSWV measured using bidimensional shear-wave elastography decreases in patients with CKD compared with normal subjects, and that for a cutoff value of below 1.47 m/s we could predict, with a good sensitivity and specificity, the presence of CKD.
- The idiopathic hypercalciuria reviewed. Metabolic abnormality or disease? [Review]
- NNefrologia 2019 May 31
- Idiopathic hypercalciuria (IH) is defined as that clinical situation in which an increase in urinary calcium excretion is observed, in the absence of hypercalcemia and other known causes of hypercalc…
Idiopathic hypercalciuria (IH) is defined as that clinical situation in which an increase in urinary calcium excretion is observed, in the absence of hypercalcemia and other known causes of hypercalciuria. In recent years, its diagnosis in pediatric age has been more frequent because it has been known that it can debut with very different symptoms, in the absence of kidney stone formation. The discovery of genetic hypercalciuric stone-forming rats has allowed us to glimpse the pathophysiological mechanism of IH since they show many data in common with humans with IH as normal levels of blood calcium, intestinal calcium hyperabsorption, increased bone resorption and a defect in the renal tubular calcium reabsorption. In 1993, it was shown that in these animals there is an increase in the number of vitamin D receptors (VDR) in the intestine, which favors an increase in the functional capacity of calcitriol-VDR complexes that explains the increase in intestinal transport of calcium. The same happens at the bone level producing a greater resorption. In our opinion, IH is a 'metabolic anomaly' or, better, an inheritable constitutive metabolic characteristic. In this sense, what patients with IH would inherit is the availability of having a greater number of VDRs in their cells than those with normal urinary calcium excretion. IH cannot be considered a sensu stricto disease, so pharmacological treatment must be individualized.
- [The basis of endoscopic stones recognition, a prospective monocentric study]. [Journal Article]
- PUProg Urol 2019 May - Jun; 29(6):312-317
- CONCLUSIONS: This first teaching experience of the urinary stone morphological endoscopic typing confirms the possibility to train urologists to gain this specific initial skill. Thereby, they could play a more important role in the etiological and diagnostic lithiasis research.
- OBESITY: A DELICATE ISSUE CHOOSING THE ESWL TREATMENT FOR PATIENTS WITH KIDNEY AND URETERAL STONES? [Journal Article]
- AEActa Endocrinol (Buchar) 2019 Jan-Mar; -5(1):133-138
- CONCLUSIONS: In patients with grade II obesity, pyelocaliceal calculus and increased hardness, other urological alternatives to lithiasis should be considered from the beginning.
- [Voluminous juvenile prostatic lithiasis complicated by perineal fistula: about a case reported at the regional hospital in Gao]. [Case Reports]
- PAPan Afr Med J 2019; 32:23
- Prostatic lithiases are characterized by the development of stones in the prostatic tissue (acini, channels). They rarely occur in children but they are frequent in men. We report the case of a 24-ye…
Prostatic lithiases are characterized by the development of stones in the prostatic tissue (acini, channels). They rarely occur in children but they are frequent in men. We report the case of a 24-year old patient with a few month-history of micturation disorders including dysuria and pollakiuria followed by perineal urinary leakage during minction. Reno-vesico-prostatic ultrasound showed voluminous prostatic calcification. Standard radiographic evaluation of the urinary tract and fistulography of the perineal orifice showed a communication with the bladder and showed large calcification projecting over the pubis. The diagnosis of prostatic lithiasis was retained. The patient was treated with antibiotic therapy before, during and after surgical extraction of the voluminous lithiasis. Surgical outcomes were favorable.
- Percutaneous Nephrolithotomy (PCNL): Standard Technique Versus Tubeless - 125 Procedures. [Journal Article]
- CCureus 2019 Mar 14; 11(3):e4251
- CONCLUSIONS: According to the majority of authors, tubeless PCNL is considered a safe and efficient technique. It also provides advantages with less postoperative pain and duration of hospitalization. We believe that a selection bias may exist in most published work concerning routine nephrostomy tube placement.
- Why primary obesity is a disease? [Review]
- JTJ Transl Med 2019 May 22; 17(1):169
- Obesity must be considered a real pathology. In the world wide, obesity represent one of the major public health issue associated with increased morbidity and mortality. Overweight or obesity, in fac…
Obesity must be considered a real pathology. In the world wide, obesity represent one of the major public health issue associated with increased morbidity and mortality. Overweight or obesity, in fact, significantly increases the risk of contracting diseases, such as: arterial hypertension, dyslipidemia, type 2 diabetes mellitus, coronary heart disease, cerebral vasculopathy, gallbladder lithiasis, arthropathy, ovarian polycytosis, sleep apnea syndrome, and some neoplasms. Despite numerous informative campaigns, unfortunately, the fight against obesity does not seem to work: in the last years, the prevalence continued to increase. The progressive and rapid increase in the incidence of obesity, which has characterized most of the economically advanced countries in the last decade, has been the main stimulus for the research of the mechanisms underlying this pathology and the related disorders. The aims of this review is to provide a revision of the literature in order to define obesity as diseases, secondly to highlight the limits and the inaccuracy of common tools used for the diagnosis of obesity, and as a third thing to strengthen the concept of the complexity of obesity as a disease among political health care providers. Obesity may be viewed as a multifactorial pathology and chronic low-grade inflammatory disease. In fact, people affected by obesity have greater risk of developing comorbility and morbility, respect to healthy. Hence, the absolute therapeutic benefit is directly proportional to the basic risk. So, internationally interest on early diagnosis of obesity is growing to avoid under- and overdiagnosis consequences. Therefore, the consequences are an aggravation of the disease and an increase in obesity related pathology like diabetes, cardiovascular disease, and cancer. The most widely used parameter for diagnosis, body mass index (BMI) is not suitable for assessing the body fat. In fact, several studies demonstrate that BMI alone cannot define obesity, which consists not so much in weight gain as in excess fat mass. The use of suitable tools for the assessment of fat mass percentage combined with clinical and genetic analysis allowed to identify different phenotypes of obesity, which explain the various paradoxes of obesity. It is essential to adopt all possible strategies to be able to combat obesity, ameliorate the suffering of patients, and reduce the social and treatment costs of obesity.
- Use of Cone-Beam Computed Tomography in Performing Submandibular Sialolithotomy. [Journal Article]
- JOJ Oral Maxillofac Surg 2019 Apr 23
- CONCLUSIONS: We found that preoperative CBCT allows for an optimal understanding of the individual stone configuration in relation to the patient's anatomy. It allows for easy identification of the calculi during sialolithotomy, leading to greater confidence in approaching proximal and hilar stones.
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- Level of knowledge on radiation exposure and compliance to wearing protective equipment: where do endourologists stand? An ESUT/EULIS survey. [Journal Article]
- WJWorld J Urol 2019 May 15
- CONCLUSIONS: Our study revealed that majority of modern urologists advocate radiation protection during endourology practice. Senior consultants and academic urologists performing a high volume of procedures seem to understand physics and rules of radiation use.