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Major Manifestation (major + manifestation)

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Pyruvate dehydrogenase deficiency presenting as dystonia in childhood

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 10 2004
R A Head MA
Two individuals with pyruvate dehydrogenase (PDH) deficiency due to missense mutations in the gene for the E1, subunit (PDHA1) presented during childhood with dystonia. The first patient, a male, presented at age 4 years with dystonia affecting the lower limbs, which responded to treatment with combined carbidopa and levodopa. The second patient, a female, was first investigated at age 6 years because of a dystonic gait disorder. In both patients, the main clue to the biochemical diagnosis was a raised concentration of lactate in the cerebrospinal fluid. PDH activity was significantly reduced in cultured fibroblasts in both cases. Dystonia is a previously unrecognized major manifestation of PDH deficiency and is of particular interest as the mutations in the PDHA1 gene in these patients have both been identified previously in individuals with typical presentations of the condition. [source]

Characteristics of skin aging in Korean men and women

INTERNATIONAL JOURNAL OF COSMETIC SCIENCE, Issue 1 2005
J. H. Chung
Introduction Korea is located between Japan and Mainland China. The people of these three countries have similar appearances and it is difficult to differentiate between them. Although the population of Asia is more than half of the total population of the Earth, the inherent characteristics of Asian skin have not been well investigated. Commercial markets for cosmetics and drugs for photoaged skin are rapidly expanding in many Asian countries. Therefore, many investigators in the field of dermatology and cosmetology have become interested in brown Asian skin. Clinical characteristics of skin aging and photoaging in Asians Skin aging can be divided into two basic processes: intrinsic aging and photoaging [1]. Intrinsic aging is characterized by smooth, dry, pale, and finely wrinkled skin, whereas photoaging, which indicates premature skin aging in chronically photodamaged skin, is characterized by severe wrinkling and irregular pigmentation. The pattern of wrinkling in Asians seems to differ from that in Caucasians. Asians have coarser, thicker and deep wrinkles, particularly in the forehead, perioral and Crow's foot areas. In contrast, Caucasians usually have relatively fine cheek and Crow's foot wrinkles. The reasons for these differences are not known and need further investigation. There are racial, ethnic and genetic differences, and differences of skin structure and function, between the brown skin of Asians and the white skin of Caucasians. As Asian skin is more pigmented, acute and chronic cutaneous responses to UV irradiation differ from those in white skin. Many people believe, based on clinical impressions, that the main process of photoaging in Asians involves pigmentary changes, rather than wrinkling. However, no study has been performed to confirm this belief. Risk factors for skin wrinkles and their relative risks in Korean skin [2] Various factors such as age, sun-exposure, and smoking are known to be important risk factors for wrinkles. However, the relative risks of each factor on wrinkles in the brown skin of Asians have not been investigated, and they could differ from those in Caucasians. An evaluation system for skin wrinkling is necessary for Asian skin [3]. Thus, we developed an eight-point photographic scale for assessing wrinkles in both Korean genders [2]. This scale can probably be applied to the populations of other Asian countries, at least to the Japanese and Chinese. The pattern of wrinkles in both genders appears to be similar. Age Age is an important risk factor for wrinkling in Asians, as in Caucasians. Korean subjects in their 60s showed a 12-fold increased risk of wrinkling, while subjects in their 70s have a 56-fold increased risk compared with young age group. UV light It is well known that the UV component in sunlight can cause and accelerate photoaging. The pigmented skin of Asian may better protect skin from acute and chronic UV damage. However, we found a strong association between sun-exposure and the development of wrinkling in Koreans. It was found that sun exposure of more than 5 h per day was associated with a 4.8-fold increased risk in wrinkling versus less than 2 h of sun-exposure in Koreans. Estrogen deficiency Korean females have more wrinkles than men, after controlling for age, sun exposure, and smoking, it was found that they have a 3.6-fold increased risk of developing wrinkles than their male counterparts [2]. It has also been reported, that the relative risk for wrinkling in women is higher than in men as for in white Caucasians [4]. The reason why women show more wrinkles remains to be determined. It is possible that a reduction in skin collagen because of estrogen deficiency in postmenopausal woman may aggravate wrinkling severity. Korean women with more than 10 years since menopause showed a 3.9-fold higher risk of wrinkling than the women 5 years of beyond menopause [5]. We demonstrated that women with a history of HRT have a significantly lower risk, more specifically, one fifth of the risk of facial wrinkling relative to those who had no history of HRT. Interestingly, we found that wrinkle severity significantly increased with an increasing number of full term pregnancies. The relative risk for severe wrinkling is increased by approximately 1.8-fold per full term pregnancy. Smoking It is known that smoking causes skin wrinkling in Caucasians, and that it plays no role in Blacks [6, 7]. Koreans with have a smoking history of more than 30 pack years showed a more than 2.8-fold increased risk of wrinkles [2]. The relative risks of wrinkles associated with a 30,50 pack-years history of smoking were 2.8- and 5.5-fold, respectively. Dyspigmentation in Asian skin To follow pigmentary changes, six photographic standards for both genders were developed for Korean skin, to produce a 6-point scale [2, 8]. Hyperpigmented spots, mostly lentigines, were prominent among women, while seborrheic keratosis tended to be more prominent in men. Seborrheic keratosis in Korean men Seborrheic keratoses (SKs) are benign cutaneous tumors. They have diverse clinical and histopathological appearances and are very common in the elderly (over 50 years old). The etiology of SKs is not well understood, although patients with a great number of lesionsshow a familial trait with an autosomal dominant pattern, and human papilloma virus has been suggested as possible cause because of verrucous appearance of the lesions. Exposure to sunlight has been suggested to be a risk factor for SKs. However, there is still some debate in terms of the role of sunlight. Recently, we have investigated the clinical characteristics of SKs and relationship between SKs and sunlight exposure in Korean males [9]. The prevalence of SKs in Koreans increases with age; it rose from 78.9% at 40 years, to 93.9% at 50 years and 98.7% in those over 60 years. Exposed areas, i.e. the face, neck and dorsum of the hands, demonstrate a significant increase in the prevalence of SKs by decade, whereas partly exposed areas, although SKs tended to increase in prevalence with age, this trend was not significant. When the estimated body surface area (BSA) is taken into account, the number of SKs on both the face and dorsum of the hands (0.51 ± 0.08 per 1% BSA) was over-represented compared with the trunk. SKs were also concentrated on the neck (0.38 ± 0.07 per 1% BSA) and in the V-area (0.47 ± 0.09 per 1% BSA). Outer forearms also showed 3-fold more SKs per unit area than neighboring arms and inner forearms, which are classified as partly exposed area (0.09 ± 0.02, 0.03 ± 0.01, respectively). The total area covered by SKs on exposed area also became significantly larger with aging than on intermittently exposed areas. These results indicate that exposure to sunlight might be related to SK growth. Our results indicated that excessive sun exposure is an independent risk factor of SKs. After controlling for age, smoking, and skin type, subjects with a sun exposure history of more than 6 hours per day showed a 2.28-fold increased risk of having severe SKs (n , 6) compared with those exposed for less that 3 h per day. These findings indicated that sun-exposure may play an important role in SK development. In summary, SKs are very common in Korean males and represent one of the major pigmentary problems. SKs concentrate on exposed skin, especially on the face and dorsum of the hands. Both age and lifetime cumulative sunlight exposure are important contributing factors and may work in a synergistic manner. Conclusion Many people tend to believe that wrinkles are not a prominent feature of Asian photoaged skin, and that dyspigmentation is a major manifestation in Asian skin. Contrary to this impression, wrinkling is also a major problem in the photoaged skin of Asians, and Korean people showing severe pigmentary changes usually tend to have severe wrinkles. In conclusion, the wrinkling patterns and pigmentary changes of photoaged skin in East Asians differ from those of Caucasians, and the relative risks of aggravating factors may be different from those of Caucasian skin. References 1.,Gilchrest, B.A. Skin aging and photoaging: an overview. J. Am. Acad. Dermatol. 21, 610,613 (1989). 2.,Chung, J.H. et al. Cutaneous photodamage in Koreans: influence of sex, sun exposure, smoking, and skin color. Arch. Dermatol. 137, 1043,1051 (2001). 3.,Griffiths, C.E. et al. A photonumeric scale for the assessment of cutaneous photodamage. Arch. Dermatol. 128, 347,351 (1992). 4.,Ernster, V.L. et al. Facial wrinkling in men and women, by smoking status. Am. J. Public Health. 85, 78,82 (1995). 5.,Youn, C.S. et al. Effect of pregnancy and menopause on facial wrinkling in women. Acta Derm. Venereol. 83, 419,424 (2003). 6.,Kadunce, D.P. et al. Cigarette smoking: risk factor for premature facial wrinkling. Ann. Intern. Med. 114, 840,844 (1991). 7.,Allen, H.B., Johnson, B.L. and Diamond, S.M. Smoker's wrinkles? JAMA. 225, 1067,1069 (1973). 8.,Chung, J.H. Photoaging in Asians. Photodermatol. Photoimmunol. Photomed. 19, 109,121 (2003). 9.,Kwon, O.S. et al. Seborrheic keratosis in the Korean males: causative role of sunlight. Photodermatol. Photoimmunol. Photomed. 19, 73,80 (2003). [source]

Did Gustav Mahler have Sydenham's chorea?,

MOVEMENT DISORDERS, Issue 3 2006
Francisco Cardoso MD
Abstract Sydenham's chorea (SC), a major manifestation of acute rheumatic fever (RF), is characterized by chorea and other motor and nonmotor features. Among the latter are behavioral symptoms, including obsessive,compulsive disorder. Although SC is typically a self-limited condition, up to 50% of patients may evolve with persistent chorea. There is evidence that Gustav Mahler had a movement disorder, but its nature remains undetermined. There are witnesses describing him as having facial dyskinesia and a gait disorder consistent with chorea. His conducting performance was notorious for obsessive attention to details of the staging and musical production. Mahler was diagnosed with a valvulopathy in 1907 and died of subacute bacterial endocarditis in 1911. It is possible that the composer suffered from RF in childhood with carditis and SC, which may left him with valvulopathy, obsessive,compulsive disorder, and persistent chorea. © 2006 Movement Disorder Society [source]

Clinical Immunology Review Series: An approach to the patient with recurrent infections in childhood

CLINICAL & EXPERIMENTAL IMMUNOLOGY, Issue 3 2008
M. A. Slatter
Summary Recurrent or persistent infection is the major manifestation of primary immunodeficiency, which also results in atypical infection with opportunistic organisms. Young children are also vulnerable to infection and recurrent infection is common. While most children with recurrent infection have a normal immunity, it is important to recognize the child with an underlying primary immunodeficiency and investigate and treat appropriately and yet not over investigate normal children. Prompt, accurate diagnosis directs the most appropriate treatment, and early and judicious use of prophylactic antibiotics and replacement immunoglobulin can prevent significant end organ damage and improve long-term outlook and quality of life. This paper describes important presenting features of primary immunodeficiency and indicates when further investigation is warranted. [source]

Effects Of The Na+/H+ Exchange Inhibitor Cariporide (HOE 642) On Cardiac Function And Cardiomyocyte Cell Death In Rat Ischaemic,Reperfused Heart

CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY, Issue 5-6 2000
Hajime Otani
SUMMARY 1. Na+/H+ exchange has been implicated in the mechanism of reperfusion injury. We examined the effects of the cardiac-specific Na+/H+ exchange inhibitor cariporide (HOE 642) on postischaemic recovery of cardiac function and cardiomyocyte cell death (i.e. necrosis and apoptosis). 2. Rat isolated and buffer-perfused hearts were subjected to 25 min normothermic global ischaemia followed by 120 min reperfusion. Cariporide (10 ,mol/L) or its vehicle (0.01% dimethylsulphoxide) was administered for 15 min before ischaemia and for the first 30 min after reperfusion. 3. Cariporide significantly improved the recovery of isovolumic left ventricular function (heart rate, left ventricular developed pressure and left ventricular end-diastolic pressure) and coronary flow throughout reperfusion. Creatine kinase release during reperfusion was significantly less in the cariporide-treated heart. In situ terminal deoxynucleotidyl transferase-mediated dUTP nick-end labelling (TUNEL)- positive cardiomyocytes were also significantly less in the cariporide-treated heart after 120 min reperfusion. Electron microscopy showed necrotic changes without typical apoptotic features in cardiomyocytes after reperfusion. Such necrotic changes were mitigated by cariporide. Simultaneous detection of necrotic and apoptotic cardiomyocytes using propidium iodide (PI) and Annexin V revealed that cardiomyocytes in the infarct area were stained with only PI or both PI and Annexin V. Cariporide did not alter the pattern of cardiomyocyte staining with PI and Annexin V, although the number of cardiomyocytes stained with PI or PI plus Annexin V was less than that in vehicle-treated hearts. 4. These results suggest that apoptosis is not a major manifestation of cardiomyocyte cell death in the ischaemic, reperfused myocardium and a cariporide-sensitive mechanism of reperfusion injury promotes both necrotic and apoptotic processes of cell death. [source]