We report an extremely specific case of Pendred's syndrome, originally described with an association of thyroid organification defect and hearing impairment; normal-sized thyroid, severe hypothyroidism manifested by profoundly retarded physical and mental development, cardiomegaly and severe hypochromic & microcytic anemia associated with asymmetrical septal hypertrophy.
Adolescent* ; Anemia* ; Cardiomegaly ; Hearing Loss ; Humans ; Hypertrophy* ; Hypothyroidism ; Thyroid Gland

No abstract available.
Biopsy, Fine-Needle* ; Thyroid Gland* ; Thyroid Nodule*

Condyloma lata is a common manifestation of secondary syphilis, but involvement of the lip mucosa is rare. Nodular lesions, especially solitary nodules, are uncommon manifestations of secondary syphilis, and only a few cases have been described. Failure to recognize condyloma lata of the lip mucosa may delay diagnosis and treatment. A 20-year-old man presented with a 4-month history of a solitary nodule on his upper lip mucosa. A diagnosis of condyloma lata was made on the basis of serologic tests for syphilis and pathological findings. We report an interesting case of condyloma lata on the upper lip mucosa that showed an unusual clinical manifestation of secondary syphilis.
Humans ; Lip ; Mucous Membrane ; Serologic Tests ; Syphilis ; Young Adult

BACKGROUND AND OBJECTIVES: here are several reports of cardiac rehabilitation (CR) having beneficial effects on the reduction of cardiovascular mortality and in the prevention of recurrent coronary events in patient with myocardial infarction (MI). An 8-week CR program was investigated to see if it affected the prognostic factors, such as inflammatory markers, after acute MI. SUBJECTS AND METHODS: 33 male and 5 female patients, with a mean age of 55+/-10 yrs, were consecutively assigned to the CR (n=19) and the control (n=19) groups three weeks after acute MI. The 8-week CR program consisted of life style modification and aerobic exercise training. At the baseline, and after 8 weeks, the symptom limited exercise test and peripheral blood sampling were performed to measure the physiologic capacity, the serum levels of high sensitive C-reactive protein (hs-CRP) and the plasma levels of interleukin (IL)-6 and tumor necrosis factor (TNF)-alpha. The interval changes of each parameter were compared between the two groups. RESULTS: The interval increments of the maximal oxygen uptake (14.3% vs. 10.6%, CR vs. control group, p=0.014), anaerobic threshold (18.8% vs. 7.0%, CR vs. control group, p=0.044) and exercise duration (9.4% vs. 3.1%, CR vs. control group, p=0.009) were larger in the CR than in the control group. The magnitudes of the interval changes in hs-CRP, IL-6 and TNF-alpha, as inflammatory markers, did not differ between the two groups (p>0.05). CONCLUSION: This 8-week CR program demonstrated an improved exercise capacity for MI patients, but a larger clinical trial, with modified exercise intensity and duration, will be necessary to detect any possible effect on the inflammatory markers.
Anaerobic Threshold ; C-Reactive Protein ; Exercise ; Exercise Test ; Female ; Humans ; Interleukin-6 ; Interleukins ; Life Style ; Male ; Mortality ; Myocardial Infarction* ; Oxygen ; Plasma ; Rehabilitation* ; Tumor Necrosis Factor-alpha

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 (p.Gln213*). To our knowledge, this is a novel mutation in GNAS.
Amino Acid Substitution ; Basal Ganglia ; Brachydactyly ; Child ; Codon ; Codon, Nonsense ; Codon, Terminator ; Exons ; Humans ; Hyperphosphatemia ; Hypocalcemia ; Intellectual Disability ; Intelligence ; Male ; Obesity ; Osteoma ; Parathyroid Hormone ; Pseudohypoparathyroidism* ; Siblings

Background: and Purpose: The Movement Disorder Society-Sponsored Revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) is widely used for estimating the symptoms of Parkinson’s disease. Translation and validation of the MDS-UPDRS is necessary for non-English speaking countries and regions. The aim of this study was to validate the Korean version of the MDS-UPDRS. Methods: Altogether, 362 patients in 19 centers were recruited for this study. We translated the MDS-UPDRS to Korean using the translation-back translation method and cognitive pretesting. We performed both confirmatory and exploratory factor analyses to validate the scale.We calculated the comparative fit index (CFI) for confirmatory factor analysis, and used unweighted least squares for exploratory factor analysis. Results: The CFI was higher than 0.90 for all parts of the scale. Exploratory factor analysis also showed that the Korean MDS-UPDRS has the same number of factors in each part as the English version. Conclusions The Korean MDS-UPDRS has the same overall structure as the English MDSUPDRS. Our translated scale can be designated as the official Korean MDS-UPDRS.