A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.
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PURPOSE: To identify the genetic defect causing autosomal recessive cataract in two inbred families. METHODS: Linkage analysis was performed with polymorphic markers close to 14 loci previously shown to be involved in autosomal dominant congenital cataract. In one of the families a gene segregating with the disease was analyzed by single-strand conformation polymorphism (SSCP) and eventually sequenced. RESULTS: Three polymorphic markers close to the CRYAA gene located on chromosome 21q segregated with the disease phenotype in one of the families, but not in the other. Sequencing of the CRYAA in this Jewish Persian family revealed a G-to-A substitution, resulting in the formation of a premature stop codon (W9X). CONCLUSIONS: A nonsense mutation in the CRYAA gene causes autosomal recessive cataract in one family. This constitutes the first description of the molecular defect underlying nonsyndromic autosomal recessive congenital cataract. That there was no linkage to this locus in another family provides evidence for genetic heterogeneity. (+info)
Hypertension in the Parsi community of Bombay: a study on prevalence, awareness and compliance to treatment.
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BACKGROUND: Uncontrolled hypertension (HT) is an established risk factor for the development of vascular diseases. Prevalence varies in different communities and no such study has been conducted in the Parsi community living in Bombay, India. The objectives of this study were to determine the prevalence, awareness, compliance to medication and control of HT in this community. METHOD: We used a 1 in 4 random selection of subjects who were > or = 20 years of age. A questionnaire was administered and the blood pressure (BP) was measured by a doctor. HT was defined as diastolic blood pressure (DBP) > or = 90 mm Hg +/- systolic pressure (SBP) > or = 140 mm Hg. Isolated systolic hypertension (ISH) was defined as SBP > or = 160 mm Hg with DBP < 90 mm Hg. Subsequently, we reanalysed the data using current definition of ISH as SBP > or = 140 mm Hg with DBP < 90 mm Hg. RESULTS: 2879 subjects > or = 20 years of age were randomly selected of which 2415 (84%) participated in the study. The overall prevalence of HT in the community was 36.4%, of whom 48.5% were unaware of their hypertensive status. Of those aware of having HT, 36.4% were non-compliant with their anti-hypertensive drugs and only 13.6% had optimally controlled HT. Prevalence of ISH using the present criteria was 19.5% and 73% of hypertensives > or = 60 years had ISH. CONCLUSION: This study shows that prevalence of HT in the Parsi community is high and nearly half are unaware of their hypertensive status. ISH is the dominant form of HT in the elderly. Compliance to treatment is poor and optimal BP control is achieved in only a small minority. The study highlights the need for regular screening coupled with educational programs to detect and optimally treat HT in the community. (+info)
The history of anatomy in Persia.
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The study of human anatomy can be found throughout the rich history of Persia. For thousands of years, morphological descriptions derived from this part of the world have contributed to and have helped form our current anatomical knowledge base. In this article we review the major influential Persian periods and the individuals who have contributed to the development of anatomy. We have divided the history of Persia into five eras: (1) the period of the Elamites, Medes, early Persians and Babylonians (10th millennium to 6th century BC); (2) following the establishment of the Persian Empire (6th century BC) to the 7th century AD; (3) after the Islamic conquest of Persia to the ascendency of Baghdad (7th to 13th century AD); (4) from the Mongol invasion of Persia to the foundations of modern anatomy (13th to 18th century AD); and (5) modern Persia/Iran (18th century AD to present). Evidence indicates that human dissection was commonplace in the first era, which led to a disciplined practice of surgery in the centuries leading to the foundation of the Persian Empire. By the emergence of Zoroastrianism in the Persian Empire, the microcosm theory was widely used to understand internal anatomy in relation to the external universe. The world's first cosmopolitan university and hospital were built in Gondishapur, south-western Persia, in the third century AD. Greek and Syriac knowledge influenced the second era. With the gradual ruin of Gondishapur and the foundation of Baghdad following the Islamic conquest of Persia (637-651 AD), a great movement took place, which led to the flourishing of the so-called Middle Age or Islamic Golden Age. Of the influential anatomists of this period, Mesue (777-857 AD), Tabbari (838-870 AD), Rhazes (865-925 AD), Joveini (?-983 AD), Ali ibn Abbas (930-994 AD), Avicenna (980-1037 AD) and Jorjani (1042-1137 AD) all hailed from Persia. There is evidence in the Persian literature as to the direct involvement of these scholars in human dissection. Syro-Indian, Byzantine, Greek, Chinese and Arabic knowledge all influenced the third era. In the fourth period, the first colour illustrated anatomical text (by Mansur, 14th century AD) was compiled. Chinese and Indian anatomical styles were embraced, though there was a strong religious siege of anatomy late in this era. By the 19th century, Persia had entered a new era of modernizing movements and academic contact with the West through the reforms of Mirza Tagi Khan Amir Kabir. Knowledge of anatomy for this region in the 20th century was greatly influenced by Europe and America. (+info)
Diseases of the kidney in medieval Persia the--Hidayat of Al-Akawayni.
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The centralization of socioeconomic resources following the rise of the Islamic empire in the 7th century nurtured an initial gathering and translation into Arabic of extant medical texts in Greek, Syriac, Hindu and Chinese. As Arabic became the lingua franca of scholarship, there followed a second period of assimilation, original observations, commentary and systematization of medical knowledge in Arabic texts, which became the basis of revival and learned medicine in the West in the 12th century. However, not all medical texts of the period were written in Arabic. As central power eroded, provincial principalities arose, and regional cultures flourished, medical texts began to be written in local dialects, particularly in Persia. Notable amongst those and probably the oldest is the Hidayat al-Muallimin fi-al-Tibb (Learner's; guide to medicine) written by Abubakr al-Akawayni al-Bokhari in the closing decades of the 10th century. Written in Farsi and dedicated to his son and other students of medicine, the Hidayat is a relatively short and simplified pandect of medicine at the time and provides a glimpse of the teaching of medicine of the period. The present article is a translation of the sections of the Hidayat related to the kidney and urinary tract and their diseases. These early writings provide insight into the care of patients with kidney disease during the Middle Ages in general, and in Persia in particular. (+info)
Honoring Avicenna, the great Persian physician on the world's postage stamps.
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