Abstract：
:Congenital, X-linked, Nephrogenic Diabetes Insipidus (NDI) is a rare disorder in which the kidney is insensitive to the antidiuretic hormone, vasopressin. The gene responsible for this type of NDI, the V2 vasopressin receptor, has been cloned and mapped to Xq28. We report the case of a boy, 2.5 month old, who presented with nephrogenic diabetes insipidus (NDI). The mother and the 7 year old sister of the boy also had the NDI phenotype but did not seek medical attention until the presentation of the boy to our department. The mutational analysis of the patient showed the R337stop mutation, also founded to the mother's genotype analysis. The allele separation in mother revealed the second X chromosomal allele with a 12- bp in-frame deletion. The same in-frame deletion was also found in his sister's genotype. This deletion of four amino acids (Arg-247 to Gly-250) has been previously described but was suggested not to be linked with the NDI phenotype. However, in our case, the only possible cause of NDI phenotype in the boy's sister was the 12-bp in-frame deletion.
journal_name
Hippokratiajournal_title
Hippokratiaauthors
Tramma D,Kalamitsou Ssubject
Has Abstractpub_date
2011-10-01 00:00:00pages
356-7issue
4eissn
1108-4189issn
1790-8019journal_volume
15pub_type
相关文献
Hippokratia文献大全abstract：INTRODUCTION:Prostate cancer is one of the most common malignant neoplastic diseases in men. Early control of the disease progression contributes significantly to survival rates and patients' quality of life. Osteoprotegerin is a dimeric glycoprotein, which affects bone metabolism and inhibits osteoclastogenesis. In th...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2016-04-01 00:00:00
abstract：:Primary cytomegalovirus infection is rare among immunocompetent hosts. We present a case of acute cytomegalovirus infection in a young immunocompetent female with pulmonary and hepatic involvement, admitted to our department due to severe exertional dyspnea. Patient's symptoms were completely atypical. Ganciclovir was...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2009-07-01 00:00:00
abstract：AIM:The aim of this study is the presentation of the imaging findings in patients with pulmonary embolism, the diagnosis of which was made with the use of helical computed tomography. MATERIAL AND METHODS:The lung CT scans of 14 patients were retrospectively studied. The presence of hypoattenuating thrombus within the...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2006-07-01 00:00:00
abstract：BACKGROUND:Thyroid transcription factor-1 (TTF-1) has been considered a sensitive marker for thyroid and lung tumors. Recent data have shown that a wide range of neoplasms may express TTF-1. CASE SERIES:We performed an immunohistochemical study in a case series of 42 urothelial carcinomas (UCs) on tissue microarrays s...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2017-07-01 00:00:00
abstract：AIM:The aim of the current study was to evaluate the level of the basic knowledge of the Turkish gynecologists regarding electrosurgery. MATERIALS AND METHODS:A survey was undertaken to evaluate the level of basic knowledge and attitudes regarding electrosurgery use among gynecology specialists and residents. The ques...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2017-01-01 00:00:00
abstract：:Multiple myeloma is a haematologic malignancy caused by clonal expansion of malignant plasma cells and associated with bone disease and hypercalcaemia. Myeloma cells are in close proximity to sites of active bone resorption and the interactions between those cells, osteoblasts and osteoclasts, are crucial not only for...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2010-04-01 00:00:00
abstract：BACKGROUND:Trigger pain points are commonly found on the trunk, especially in the neck and shoulders. Dry needling is an effective treatment option in musculoskeletal pain caused by trigger pain points. CASE DESCRIPTION:A 28-year-old female patient who had persistent upper back pain underwent dry needling on both rhom...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2019-01-01 00:00:00
abstract：:Cardiovascular manifestations are very common in patients with end stage renal disease and those undergoing dialysis treatment. One of the factors, causing cardiovascular disorders due to mineral metabolism disturbances in uremia is the appearance of cardiovascular calcification. The precise mechanism of the mineral m...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2009-07-01 00:00:00
abstract：BACKGROUND:In the recent years, a new group of designer drugs, under the brand name of bath salts has emerged as a new trend. They are mainly b-ketone amphetamine analogs and are derivatives of cathinone, a monoamine alkaloid. They are abused for psychostimulant effects. Their primary ingredient 3,4-methylenedioxypyrov...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2015-10-01 00:00:00
abstract：:Enlargement of the submandibular gland is a condition that raises the alarm for further investigation as the risk of an underlying malignancy is higher in comparison to parotid gland enlargement. Chronic sclerosing sialadenitis or Küttner's tumour is usually mis-recognised as it is only after excision of the gland tha...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2008-01-01 00:00:00
abstract：:Pyeloureteritis cystica is a rare situation of the renal pelvis and ureters, characterized by cystical formations of the epithelium. The etiology is unknown and there is no specific treatment. It is usually diagnosed accidently during imaging of the upper urinary tract for different reasons. We present a case of pyelo...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2010-10-01 00:00:00
abstract：:The introduction of erythropoietin (Epo) in clinical practice, more than two decades ago, altered completely the management of patients with chronic kidney disease (CKD). The successful correction of anemia of CKD has resulted in reduction of associated morbidity and improvement of functionality, exercise tolerance, c...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2011-04-01 00:00:00
abstract：BACKGROUND:Marfan Syndrome occurs in 8 to 10 per 100,000 of population/year. Ocular features of this syndrome have been extensively reported. We report two patients in the same family with miscellaneous complications of this syndrome. CASE REPORT:Two sisters with Marfan Syndrome were examined in our clinic. They revea...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2010-01-01 00:00:00
abstract：BACKGROUND:A variety of organisms produce potent toxins that impact human health through compromising respiratory function. CASE REPORT:We describe a rare case of abrupt respiratory failure afterNicotiana glaucaingestion in a previously healthy sixty years old female patient. She presented complaining for gait instabi...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2013-04-01 00:00:00
abstract：OBJECTIVES:To investigate if pepsin is detected, with an activity assay, in the saliva of patients with a clinical diagnosis of laryngopharyngeal reflux (LPR) and can therefore be used as a diagnostic marker of laryngopharyngeal reflux. STUDY DESIGN:Pilot, prospective study. METHODS:Adult participants with a clinical...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2007-07-01 00:00:00
abstract：:Wernicke's encephalopathy is a reversible, neurologic disorder due to thiamine deficiency which is mainly related to chronic alcohol abuse. We report a case of a young male patient, who was bodybuilder and anabolic drug user, in whom encephalopathy was diagnosed after a short medical course in the ICU after a major up...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2012-10-01 00:00:00
abstract：INTRODUCTION:Matrix metalloproteinases (MMPs) are a family of zinc-dependent proteinases involved in remodeling the extracellular matrix. Tissue inhibitors of metalloproteinases (TIMPs) are a family of four proteins that act to limit the degradative actions of MMPs. Chronic kidney disease (CKD) and acute kidney injury ...
journal_title：Hippokratia
pub_type： 杂志文章,评审
doi：
更新日期：2018-07-01 00:00:00
abstract：BACKGROUND:Crimean-Congo hemorrhagic fever (CCHF) is a viral disease with fatality rate up to 30%. Up to date, only one CCHF case has been reported in Greece, while a distinct virus strain (AP92) had been isolated in 1975 from ticks in Imathia prefecture, northern Greece. The aim of the present study was to estimate th...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2013-10-01 00:00:00
abstract：BACKGROUND:We evaluated the effects of tobacco smoking on functional outcomes of septoplasty and complication rates. METHODS:In total, 183 patients (127 males, 56 females) who had septum deviations and underwent septoplasties from January 2012 to December 2013 were evaluated. Subjects were divided into three groups: n...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2015-07-01 00:00:00
abstract：BACKGROUND:The involvement of the immune system in the pathogenesis of certain types of epilepsy has been supported in the past. The use of intravenous immunoglobulin in the treatment of neurologic diseases has shown a progressive trend over the last years. CASE REPORT:We report the case of a 9.5-year-old boy with ref...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2017-01-01 00:00:00
abstract：BACKGROUND:The rate of operative vaginal delivery has remained stable the last decade, however the rate of vacuum has increased against forceps application. Different maternal and neonatal outcomes have been proposed by many reports. The aim of the present study is to compare the short term maternal and neonatal outcom...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2009-01-01 00:00:00
abstract：AIM:To evaluate the effects of glutamine on the hepatic ischemia reperfusion injury in rats. METHODS:Thirty rats were divided into three groups as sham (Group 1), control (Group 2), and glutamine(gln) treatment group (Group 3). All rats underwent hepatic ischemia for 45 min followed by 60 min period of reperfusion. Ra...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2011-04-01 00:00:00
abstract：:Mesechymal stem cells as pluripotent cells are involved in the differentiation of adipocytes under regulation of genes and transcription factors. The plasticity observed between adipocytes and osteoblasts differentiation is the basis of transdifferentiation, observed in both experimental and clinical level. This revie...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2011-01-01 00:00:00
abstract：BACKGROUND:The syndrome of horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare human disease and while its association with scoliosis was first reported in 1974, thirty years later the responsible genetic mutations are being elucidated. This progress was due to the reporting of single interesting cases. ...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2013-10-01 00:00:00
abstract：BACKGROUND:Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare immune-mediated disease of the peripheral nervous system characterized by motor weakness, sensory symptoms, areflexia, and specific electrophysiological findings. Rarely, Anti-Tumor Necrosis Factor-alpha (anti-TNFa) agents, which are used as ...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2019-10-01 00:00:00
abstract：BACKGROUND AND AIM:Trisomy 13 (Patau syndrome) was first described by Patau et al in 1960. It is characterized by serious head, facial, and extremity anomalies, congenital heart defects, and mental abnormalities. The incidence rate of Trisomy 13 is 1/10.000 live births. Accompanying symptoms and findings vary in rate a...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2013-07-01 00:00:00
abstract：BACKGROUND:The aim of this study was to investigate the disease characteristics of children with juvenile idiopathic arthritis (JIA) in southeast Turkey. METHODS:The International League of Associations for Rheumatology (ILAR) criteria were used to diagnose JIA. Hospital records of the Pediatric Rheumatology Unit, of ...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2015-01-01 00:00:00
abstract：BACKGROUND:Metabolomics could provide valuable insights into hypoxemic-ischemic encephalopathy (HIE) revealing new disease-associated biochemical derangements. The study aimed to investigate urine metabolic changes in neonates with HIE compared to healthy controls, using targeted liquid chromatography-tandem mass spect...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2017-04-01 00:00:00
abstract：:Zygomycosis is an invasive mycotic disease caused by fungi of the class Zygomycetes. Infections caused by zygomycetes, are known for their difficulty of diagnosis and treatment. Cunninghamella bertholletiae (Cb), is a saprobic fungus commonly found in the soil of temperate climates. Pulmonary infections caused by Cb a...
journal_title：Hippokratia
pub_type：
doi：
更新日期：2008-01-01 00:00:00
abstract：:Schwannomas are generally benign, slow growing tumors, which can originate from any nerve that has a Schwann cell sheath. Digestive tract schwannomas are rare and are usually asymptomatic. We present the case of a 48-year-old woman with a symptomatic submucosal tumour of the gastric antrum. The patient underwent parti...
journal_title：Hippokratia
pub_type： 杂志文章
doi：
更新日期：2012-07-01 00:00:00
