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https://www.readbyqxmd.com/read/27922243/late-diagnosed-phenylketonuria-in-an-eight-year-old-boy-with-dyslexia-and-attention-deficit-hyperactivity-disorder
#1
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922230/consensus-statement-on-diagnosis-treatment-and-follow-up-of-cow-s-milk-protein-allergy-among-infants-and-children-in-turkey
#2
Aydan Kansu, Aysel Yüce, Buket Dalgıç, Bülent Enis Şekerel, Fügen Çullu-Çokuğraş, Haluk Çokuğraş
The present paper aims to provide experts' consensus on diagnosis and management of cow's milk protein allergy (CMPA) among infants and children in Turkey, based on review of available evidence-based guidelines, publications and experts' clinical experience. The experts agreed that CMPA diagnosis should be based on symptomatic evaluation and diagnostic elimination diet as followed by implementation of an open challenge test after disappearance of symptoms and confirmation of CMPA diagnosis in re-appearance of symptoms...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922183/the-significance-of-sampling-time-in-therapeutic-drug-monitoring-of-clozapine
#3
M I Jakobsen, J R Larsen, C K Svensson, S S Johansen, K Linnet, J Nielsen, A Fink-Jensen
OBJECTIVE: Therapeutic drug monitoring (TDM) of clozapine is standardized to 12-h postdose samplings. In clinical settings, sampling time often deviates from this time point, although the importance of the deviation is unknown. To this end, serum concentrations (s-) of clozapine and its metabolite N-desmethyl-clozapine (norclozapine) were measured at 12 ± 1 and 2 h postdose. METHOD: Forty-six patients with a diagnosis of schizophrenia, and on stable clozapine treatment, were enrolled for hourly, venous blood sampling at 10-14 h postdose...
December 6, 2016: Acta Psychiatrica Scandinavica
https://www.readbyqxmd.com/read/27921860/effects-of-cognitive-remediation-therapy-on-neurocognition-and-negative-symptoms-in-schizophrenia-an-italian-naturalistic-study
#4
Mariangela Lanfredi, Giacomo Deste, Clarissa Ferrari, Stefano Barlati, Laura Rosa Magni, Roberta Rossi, Luca de Peri, Marco Bonomi, Giuseppe Rossi, Antonio Vita
INTRODUCTION: Cognitive remediation therapy (CRT) has been reported to positively affect neurocognitive processes among patients with schizophrenia; however, the degree to which changes in cognition is linked to improved clinical symptoms, remains poorly understood. The current study aimed to investigate whether cognitive gains were associated to improvements in negative symptoms' severity in patients with schizophrenia living in two Italian psychiatric facilities. METHODS: Patients with a diagnosis of schizophrenia were consecutively assigned to CRT (n = 33) and compared with an historical control group (n = 28)...
December 6, 2016: Cognitive Neuropsychiatry
https://www.readbyqxmd.com/read/27921439/-history-of-diagnosis-and-therapy-of-diabetic-retinopathy
#5
Tomáš Sosna
The article surveys the fascinating historical milestones of the diagnosis of diabetic retinopathy. In the context of the discovery then it represents some of the famous characters of ophthalmology and documents the evolution of diagnostics, conservative treatment, as well as laser and surgical therapy for this serious diseaseKey words: diabetic retinopathy - history - therapy.
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921438/-heterogeneity-of-childhood-diabetes-and-its-therapeutic-implications
#6
Zdeněk Šumník, Štěpánka Průhová, Ondřej Cinek
The prevalence of diabetes in Czech children is 1 : 500-1 000. Its incidence rose about threefold over the past 25 years. Type 1 diabetes is the prevailing form of diabetes in childhood, but also monogenic forms are frequently diagnosed. The occurrence of type 2 diabetes is still marginal in Czech children, with a relative proportion of less than 1 % of all diabetic children. Etiological diagnosis is the basic prerequisite of an effective diabetes treatment. In this review we present novel aspects on etiology and therapy of diabetes diagnosed in childhood and adolescence...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921434/-actual-trends-in-diagnostics-and-treatment-of-congenital-hyperinsulinism
#7
Juraj Staník, Martina Škopková, Monika Rosoľanková, Iwar Klimeš, Daniela Gašperíková
Congenital hyperinsulinism (CHI) is the most common cause of severe persistent hypoglycemia in neonates and infants. Early diagnosis and effective treatment (based on the principles of pharmacogenetics) play the key role for the prognosis. The DNA anlysis, which can identify mutation in one of the 11 genes causing MODY, is crutial in the diagnostics. Moreover, The genotype determines also the optimal therapy approach (medicaments, diet or rarely surgery). There was a large progress of novel medicaments treating particularly most severe (diazoxide-resistant) forms of CHI...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921429/-congenital-hyperinsulinism-loss-of-b-cell-self-control
#8
Jan Lebl, Klára Roženková, Štěpánka Průhová
Congenital hyperinsulinism is a serious blood glucose regulation defect that interferes with brain development, leading to mental retardation, neurological sequelae and secondary epilepsy and ultimately may be life-threatening. Congenital hyperinsulinism (CHI) is caused by genetic defects of regulation of insulin secretion that induce insulin oversecretion in intrauterine life and postnatally. The clinical consequence is fetal macrosomia and subsequently neonatal and infantile hypoglycaemia. The most severe form is caused by biallelic mutations of KCNJ11 and ABCC8 genes that encode both potassium channel subunits, whereas their heterozygous mutations as well as enzymatic defects (GLUD1, HADH, GCK) lead to milder presentation...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921419/-metabolic-syndrome-in-patients-with-diabetes-mellitus-type-1-prevalence-impact-on-morbidity-and-mortality
#9
Jitka Brožová, Daniela Čechurová, Silvie Lacigová
: Aim of this retrospective observational study was to determine the prevalence of metabolic syndrome (MS) in patients with diabetes mellitus type 1 (DM1Z) at baseline (in 2003) and find the parameters that determine the difference between group with (MS+) and without MS (MS-). Did the presence of MS affect morbidity and mortality in the subsequent 10 years? METHODS: 278 patients were enrolled to the study with age average 39 ± 13 years with medical history of diabetes 15...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921418/-diabetic-foot-syndrome-from-the-perspective-of-internist-educated-in-podiatry
#10
Alexandra Jirkovská
Podiatry is the science dealing with the diagnostics and treatment of the foot and ankle and associated tissues and structures by all appropriate methods and also with the local manifestation of the overall processes in this area. Diabetic foot disease is defined as infection, ulceration or destruction of tissues of the foot associated with neuropathy and/or peripheral artery disease in the lower extremity of people with diabetes according to the latest edition of the International Consensus. Successful treatment and prevention of diabetic foot syndrome depends on a holistic approach, in which it is seen as part of the multiple organ involvement...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921412/impacts-of-thermal-treatments-on-major-and-minor-allergens-of-sea-snail-cerithidea-obtusa-obtuse-horn-shell
#11
Rosmilah Misnan, Norazlin Salahudin Abd Aziz, Zailatul Hani Mohamad Yadzir, Faizal Bakhtiar, Noormalin Abdullah, Shahnaz Murad
Snail is one of the worst causes of food allergy. Thus, the aim of this study was to identify the major and minor allergens of the local marine snail (Cerithidea obtusa) and subsequently to investigate the impacts of heat treatment on the IgE-binding activity of snail allergens. Proteins from raw and heat-treated snails (boiled, roasted and fried) were extracted and then resolved by sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE). Immunoblotting of all extracts were then performed using sera from patients with snail allergy...
August 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27921251/skin-manifestations-of-insulin-resistance-from-a-biochemical-stance-to-a-clinical-diagnosis-and-management
#12
REVIEW
Gloria González-Saldivar, René Rodríguez-Gutiérrez, Jorge Ocampo-Candiani, José Gerardo González-González, Minerva Gómez-Flores
Worldwide, more than 1.9 billion adults are overweight, and around 600 million people suffer from obesity. Similarly, ~382 million individuals live with diabetes, and 40-50% of the global population is labeled at "high risk" (i.e., prediabetes). The impact of these two chronic conditions relies not only on the burden of illnesses per se (i.e., associated increased morbidity and mortality), but also on their increased cost, burden of treatment, and decreased health-related quality of life. For this review a comprehensive search in several databases including PubMed (MEDLINE), Ovid EMBASE, Web of Science, and Scopus was conducted...
December 5, 2016: Dermatology and Therapy
https://www.readbyqxmd.com/read/27921227/-nosocomial-pneumonia-from-a%C3%A2-radiological-perspective
#13
REVIEW
P Agarwal, A Wielandner
Due to the high morbidity and mortality, nosocomial pneumonia represents a serious risk in hospitalized patients. The increased risk of infections with multidrug-resistant (MDR) pathogens makes a timely diagnosis and prompt therapy indispensable. A newly occurring or progressive infiltrate in any patient who has been hospitalized for more than 48 h should be viewed with suspicion. In contrast to community acquired pneumonia (CAP), radiography plays a limited role in the diagnosis of hospital-acquired pneumonia (HAP)...
December 5, 2016: Der Radiologe
https://www.readbyqxmd.com/read/27921127/pre-authorization-processes-have-no-effect-on-patients-undergoing-knee-mri-in-a-pediatric-setting-when-evaluated-by-specialists
#14
Drew Pierce, J Herman Kan, Megan May, George S Bisset
OBJECTIVE: Pre-authorization processes are often used by medical insurance companies to reduce costs by managing the utilization of advanced diagnostic imaging, and their impact on patient care is unclear. The purpose of our study is to determine if a pre-authorization process increases the rate of surgically significant abnormal knee MRI and surgical referrals compared with patients referred from pediatric orthopedic specialists who do not undergo a pre-authorization process. MATERIALS AND METHODS: A retrospective study was performed; 124 patients were identified who were referred for knee MRI by a pediatric orthopedist...
December 5, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27921113/-musculoskeletal-related-chest-pain
#15
C Sturm, T Witte
BACKGROUND: Approximately 10-50% of chest pains are caused by musculoskeletal disorders. The association is twice as frequent in primary care as in emergency admissions. AIM: This article provides an overview of the most important musculoskeletal causes of chest pain and on the diagnostics and therapy. METHODS: A selective search and analysis of the literature related to the topic of musculoskeletal causes of chest pain were carried out. RESULTS AND CONCLUSION: Non-inflammatory diseases, such as costochondritis and fibromyalgia are frequent causes of chest pain...
December 5, 2016: Der Internist
https://www.readbyqxmd.com/read/27921061/acute-liver-failure-secondary-to-hemophagocytic-lymphohistiocytosis-during-pregnancy
#16
Jeanne-Marie Giard, Kerry A Decker, Jennifer C Lai, Ryan M Gill, Aaron C Logan, Oren K Fix
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of excessive immune activation that mimics and occurs with other systemic diseases. A 35-year-old female presented with signs of viral illness at 13 weeks of pregnancy and progressed to acute liver failure (ALF). We discuss the diagnosis of HLH and Kikuchi-Fujimoto (KF) lymphadenitis in the context of pregnancy and ALF. HLH may respond to comorbid disease-specific therapy, and more toxic treatment can be avoided.
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/27921053/metastatic-esophageal-cancer-presenting-as-an-orbital-mass
#17
Sunil Pokharel, Ghassan Kabbach, Seth J Richter, Laura Chiu
We report a case of adenocarcinoma of the esophagus presenting as an orbital metastasis prior to the primary diagnosis. A 66-year-old white male presented to his ophthalmologist with right orbital swelling for several months. Magnetic resonance imaging revealed a supraorbital infiltrative mass. Pathology from the mass revealed findings consistent with adenocarcinoma of gastrointestinal origin. Upper endoscopy revealed distal esophageal stricture and irregularities. Pathology from the esophagus showed the same malignancy found in the orbit...
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/27921045/clinical-scenario-of-the-metabolic-syndrome
#18
REVIEW
Swantje Brede, Georg Serfling, Johanna Klement, Sebastian M Schmid, Hendrik Lehnert
The term metabolic syndrome (MeS) refers to a cluster of associated symptoms composed of impaired fasting glucose, abdominal obesity, hypertension, and dyslipidemia. MeS is associated with an increased risk of cardiovascular and diabetes-associated morbidity and mortality. The increased amount of visceral fat together with a chronic inflammatory state predisposes to the development of arteriosclerosis. Furthermore, insulin resistance (IR) and dyslipidemia are associated with fatty liver disease. In addition, MeS is linked to non-cardiovascular diseases such as cancer as well as psychiatric or endocrine disorders...
October 2016: Visceral Medicine
https://www.readbyqxmd.com/read/27921038/the-clinical-manifestation-and-management-of-autosomal-dominant-polycystic-kidney-disease-in-china
#19
REVIEW
Cheng Xue, Chen-Chen Zhou, Ming Wu, Chang-Lin Mei
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic hereditary kidney disease characterized by progressive enlargement of renal cysts. The incidence is 1-2‰ worldwide. Mutations in two genes (PKD1 and PKD2) cause ADPKD. Currently, there is no pharmaceutical treatment available for ADPKD patients in China. Summary: This review focused on advances in clinical manifestation, gene diagnosis, risk factors, and management of ADPKD in China. There is an age-dependent increase in total kidney volume (TKV) and decrease in renal function in Chinese ADPKD patients...
October 2016: Kidney Diseases
https://www.readbyqxmd.com/read/27921004/a-rare-case-of-gestational-gigantomastia-with-hypercalcemia-the-challenges-of-management-and-follow-up
#20
Bahram Moazzami, Shahla Chaichian, Mohammad Reza Farahvash, Saeedeh Taheri, Seyed Ali Ahmadi, Majid Mokhtari, Kourosh Sheibani
BACKGROUND: Gigantomastia is a breast disorder marked by exaggerated rapid growth of the breasts, generally bilaterally. Since this disorder is very rare and has been reported only in sparse case reports its etiology has yet to be fully established. Treatment is aimed at improving the clinical and psychological symptoms and reducing the treatment side effects; however, the best therapeutic option varies from case to case. CASE PRESENTATION: The present report described a case of gestational gigantomastia in a 30-year-old woman, gravida 2, parity 1, 17 week pregnant admitted to Pars Hospital, Tehran, Iran, on May 2014...
October 2016: Journal of Reproduction & Infertility
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