Gitelman's Syndrome with Mental Retardation
Internal Medicine, 2006 A 56-year-old mentally retarded Japanese woman (intelligence quotient: 49) was admitted to our hospital with the chief complaints of headache, dizziness, vomiting, and lower limb paralysis. Laboratory tests showed severe hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. These findings suggested a diagnosis of Gitelman's syndrome (GS).
Rena, Morita +4 more
openaire +3 more sources
Visual attention in autism families: ‘unaffected’ sibs share atypical frontal activation [PDF]
, 2009 Background: In addition to their more clinically evident abnormalities of social cognition, people with autism spectrum conditions (ASC) manifest perturbations of attention and sensory perception which may offer insights into the underlying neural ...
Baron-Cohen, S, Belmonte, MK, Gomot, M
core +1 more source
From acute to chronic pain: tapentadol in the progressive stages of this disease entity [PDF]
, 2017 OBJECTIVE: Chronic pain is now recognized as a neural disease, which results from a maladaptive functional and structural transformation process occurring over time. In its chronic phase, pain is not just a symptom but also a disease entity.
Coluzzi, Flaminia +3 more
core
Chemotherapy-induced tubulopathy: a case report series
Frontiers in NephrologyAcquired tubulopathies are frequently underdiagnosed. They can be characterized by the renal loss of specific electrolytes or organic solutes, suggesting the location of dysfunction.
Mario Alamilla-Sanchez +6 more
doaj +1 more source
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core +1 more source
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions [PDF]
, 2002 Steroid 21-hydroxylase deficiency is caused by a defect in the CYP21A2 gene. CYP21A2, the adjacent complement C4 gene and parts of the flanking genes RP1 and TNXB constitute a tandemly duplicated arrangement in the central (class III ...
Degenhart, H.J. (Herman) +2 more
core +2 more sources
Young Female, Fatigue, Hypokalemia, Hyperglycemia
Xiehe Yixue ZazhiWe report a case of a young female patient with fatigue, hypokalemia, and hyperglycemia. She had past-history of diabetes mellitus, and was admitted to hospital with a history of fatigue and hypokalemia for 5 years.
CHEN Rong +6 more
doaj +1 more source
Diagnostic value of two dimensional shear wave elastography combined with texture analysis in early liver fibrosis. [PDF]
, 2019 BACKGROUND: Staging diagnosis of liver fibrosis is a prerequisite for timely diagnosis and therapy in patients with chronic hepatitis B. In recent years, ultrasound elastography has become an important method for clinical noninvasive assessment of liver ...
Hu, Xiang-Dong +7 more
core +1 more source
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2018 Gitelman syndrome (GS) is the most frequently inherited renal salt-wasting tubulointerstitial disease. It follows variable but usually asymptomatic benign course. We present a rare case of GS that remained clinical enigma. A 22-year male presented with severe episodic fatigue involving all limbs associated with episodes of sinking, palpitations, salt ...
Qurat Ul Ain, Mustafa +4 more
openaire +1 more source
Demographic, clinical, and treatment characteristics of the juvenile primary fibromyalgia syndrome cohort enrolled in the Childhood Arthritis and Rheumatology Research Alliance Legacy Registry. [PDF]
, 2019 BackgroundTo describe the demographic, clinical, and treatment characteristics of youth diagnosed with juvenile primary fibromyalgia syndrome (JPFS) who are seen in pediatric rheumatology clinics.MethodsInformation on demographics, symptoms, functioning,
Boneparth, Alexis D +4 more
core +1 more source