92 research outputs found
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation
No full textThe Al-Awadi-R aas-Rothschild syndrome (AARRS; OMIM 276820) and the Fuhrmann syndrome (FS; OMIM 228930) are distinct limb malformation disorders comprising different degrees of limb aplasia or hypoplasia. In 2006, Woods et al. found different recessive WNT7A mutations in one family segregating the AARRS phenotype and in a second family with FS. To explain the common genetic basis for the two clinically distinct disorders, functional studies were done showing that partial loss of WNT7A function resulted in FS, while complete loss of WNT7A function resulted in the more severe phenotype of AARRS. In spite of the elucidation of the molecular basis of AARRS, there remains to this day considerable diagnostic confusion that has culminated in the lumping of Schinzel phocomelia syndrome with AARRS; however, this phocomelic limb defect is quite different in its clinical aspect and pathogenesis from the limb findings of AARRS. Here, we report on a child with the AARRS phenotype and homozygosity for a non-conservative E72K mutation in WNT7A, underline the homogeneity of the WNT7A-associated AARRS phenotype, and propose differential diagnostic criteria for the AARRS reflecting the roles of WNT7A in limb development. © 2010 Wiley-Liss, Inc
Stratigraphy of the Dammam Formation in Umm-Gudair area, Kuwait
No full textThe Dammam Formation in Umm-Gudair area in Kuwait was stu¬ died using cores and electrical logs from water wells. The Dammam Formation is a limestone-dolomite sequence of Middle Eocene age. It is underlain by Early Eocene Rus evaporites and is overlain uncon-formably by the clastic sediments of the Kuwait Group. It is subdivided into three members in Umm-Gudair area. The lower member, A, is a nummulitic limestone with shale interlayers at its base. The middle member, B, is a highly silicified and dolomitized fossiliferous limestone which includes lignite and silty lignite interlayers. The upper member, C, is a friable, white dolomite which is silicified and karstified at the top, beneath the unconformity with the overlying Kuwait Group. Similar silicification and karstifikation occurs at the top of the B member, and that suggest a minor but significant unconformity between the B and C members.
The Dammam Formation was deposited on a shallow marine shelf experiencing minor fluctuations from lagoon to tidal flat and swamp environments. This tectonically stable period was interrupted by small pulses in the source land and minor fluctuations in the sea level, which caused alternating transgressive and regressive cycles.Stratigraphie de la Formation Dammam dans la region de Umm-Gudair, Koweit. Au Koweit, dans la région de Umm-Gudair la Formation Dammam a été étudiée à partir de carottes et de Logs électriques. Il s'agit d'un ensemble calcaire et dolomitique dâté de l'Eocène moyen. La Formation est encadrée, à sa base par les évapo-rites de l'Eocène inférieur et du sommet par les sédiments clastiques, discordants du Kuwait Group.
Dans la région de Umm-Gudair la Formation est subdivisée en 3 membres. Le membre inférieur (A) est un calcaire à Nummulites avec des inter-lits argileux à sa base. Le membre moyen (B) est un calcaire fossilifère fortement silicifié et dolomitisé admettant du lignite et des inter-lits silteux et ligniteux. Le membre supérieur (C) est une dolomite blanche et friable, silicifiée et karstifiée au sommet, sous la discordance du Kuwait Group sus-jacent.
Des siliciflcations et karstifications analogues apparaissent au sommet du membre B, ce qui suggère une petite mais significative inconformité entre les membres B et C.
La Formation Dammam s'est déposée sur une plate-forme marine peu profonde, soumise à de petites fluctuations depuis des milieux de lagon jusqu'à des dépôts de "tidal-flat" et des environnements de marais.
Cette période, tectoniquement stable, a été interrompue par de petits pulsations continentales et des fluctuations mineures du niveau de la mer, qui ont déterminé des cycles alternativement transgressifs et régressifs.Al-Awadi E., Al-Ruwaih F., Ozkaya S.I. Stratigraphy of the Dammam Formation in Umm-Gudair area, Kuwait. In: Géologie Méditerranéenne. Tome 25, numéro 2, 1998. pp. 105-116
Modern-Day Management of the Dysglycemic Continuum: An Expert Viewpoint from the Arabian Gulf
No full textThamer Alessa,1 Fatheya Al Awadi,2 Juma Al Kaabi,3 Ali Al Mamari,4 Ebaa Al Ozairi,5 Dalal Alromaihi,6 Tarik Elhadd,7 Abdallah A Gunaid,8 Mohamed Hassanein,9 Amin A Jayyousi,10 Raya Kalimat,11 Kerstin MG Brand12 1Division of Endocrinology, Jaber Al-Ahmad Hospital, Kuwait City, Kuwait; 2Endocrine Department, Dubai Hospital, Dubai Academic Health Corporation (DAHC), Dubai, United Arab Emirates; 3Department of Internal Medicine, College of Medicine and Health Sciences, The United Arab Emirates University, Al-Ain, United Arab Emirates; 4Department of Medicine, Sultan Qaboos University Hospital, Muscat, Oman; 5Clinical Research Unit, Dasman Diabetes Institute, Dasman, Kuwait; 6Internal Medicine Department, Royal College of Surgeons in Ireland-Medical University of Bahrain, Adliya, Kingdom of Bahrain; 7Endocrine Section, Department of Medicine, Hamad Medical Corporation, Doha, Qatar; 8Internal Medicine, Sana’a University Faculty of Medicine, Sanaa, Yemen; 9Department of Endocrinology and Diabetes, Dubai Hospital, Dubai Academic Health Corporation (DAHC), Dubai, United Arab Emirates; 10Department of Endocrinology, Hamad Medical Corporation, Doha, Qatar; 11Medical Affairs, Merck Serono Middle East FZ-LLC, Dubai, United Arab Emirates; 12Global Research & Development Medical – MU CM&E, Merck Healthcare KGaA, Darmstadt, GermanyCorrespondence: Thamer Alessa, Division of Endocrinology, Jaber Al-Ahmad hospital, South Surra, Ministries Area, Kuwait City, 13060, Kuwait, Email [email protected]: Prediabetes is the first stage of a continuum that extends through the diagnosis of clinical type 2 diabetes towards long-standing diabetes with multiple comorbidities. The diagnosis of prediabetes provides an opportunity to interrupt the diabetes continuum at an early stage to ensure long-term optimization of clinical outcomes. All people with prediabetes should receive intervention to improve their lifestyles (quality of diet and level of physical activity), as this has been proven beyond doubt to reduce substantially the risk of conversion to diabetes. Additionally, a large base of clinical evidence supports the use of metformin in preventing or delaying the transition from prediabetes to clinical type 2 diabetes, for some people with prediabetes. For many years, guidelines for the management of type 2 diabetes focused on lowering blood glucose, with metformin prescribed first for those without contraindications. More recently, guidelines have shifted towards prevention of diabetes complications as the primary goal, with increased use of GLP-1 receptor agonists (or multi-agonist incretin peptides) or SGLT-2 inhibitors for patients with existing atherosclerotic cardiovascular disease, heart failure or chronic kidney disease. Access to these medications often remains challenging. Metformin remains a suitable option for initial pharmacologic intervention to manage glycemia for many people with prediabetes or type 2 diabetes along with other therapy to maintain control of blood glucose or to address specific comorbidities as the patient progresses along the diabetes continuum.Keywords: type 2 diabetes, prediabetes, diabetes continuum, metformin, antidiabetic therapy, diabetes complication
Structural changes in glomeruli and proteinuria in streptozotocin diabetic rats
No full textIn streptozotocin induced diabetes in rats,
excretion of urinary protein fractions were studied in
relation to structural changes in the renal glomeruli,
using light and transmission electron microscopy. After
six weeks of induced diabetes only 01 and B2 plasma
globulins were significantly elevated. The amount of
excreted proteins and degree of glomerular changes were
not proportional. In the initial stages (1-2 weeks)
glomerular structural changes were very mild and were
accompanied by significantly elevated proteinuria. This
progressed (4-8 weeks) to moderate to prominent
structural changes with intermittent proteinuria except
for the fractions 01 & B2 which were elevated throughout
the duration of the experiment. The amount of
proteinuria was not proportional to changes in the
plasma protein levels.
The following conclusions may be made:
1) The mild early glomerular abnormalities seem to be
mainly due to acute metabolic disturbances.
2) An early indication of diabetic nephropathy is
provided not only by albuminuria, but may also be an
elevated excretion of betaglobulin fractions.
3) Decrease of albuminuria in the later stages of diabetes
may be related to the deposition of albumin as a
basement membrane - like material in the mesangium
ChemInform Abstract: Studies of Polyfunctionally Substituted Heteroaromatics: Synthesis of New Polyfunctionally Substituted Azabiaryls.
No full textConsanguinity, endogamy, and genetic disorders in Tunisia.
No full textInternational audienceConsanguinity refers to marriages between individuals who share at least one common ancestor. In clinical genetics, a consanguineous marriage is defined as a union between two individuals who are related as second cousins or closer, with the inbreeding coefficient (F) equal or higher than 0.0156 (Bittles2001). However, reports on consanguinity rates may sometimes include marriages between third cousins or more distantly related individuals (Hamamy2011). It is estimate that more than 690 million people in the world are consan- guineous (Bittles and Black 2010 ). Middle East, Northern Africa, and South Asia are regions that have historically and culturally had a high rate of consanguineous unions (Al- Awadi et al. 1985; Al-Gazali et al.1997; Jaber et al.1997;Bittles et al.2002; Bener and Alali2006). Recent studieshave shown that 20 % to 50 % of marriages in Arab countries are between relatives (Tadmouri et al. 2009;Bittles2011; Hamamy et al.2011). The rate was 68 % inEgypt (Mokhtar and Abdel-Fattah2001), 51-58 % in Jorda
Wastewater management in a dairy farm
No full textField sampling and laboratory experimentation were conducted on wastewater effluent generated at a dairy farm in order to characterise the wastewater, evaluate existing primary treatment facilities, and examine an appropriate wastewater treatment system to produce good quality effluents. It has been found that the farm contributes effluents containing considerable loads of organics, solids and nutrient pollutants. Existing treatment facilities which are limited to batch-operated primary settling tanks, are not capable of producing good quality effluent. Experimentation on an aerobic, suspended growth, biological system using sequencing batch reactors (SBR) indicated that the pollutant loads in the primary-treated effluent could be substantially reduced. The study showed that a wastewater treatment system involving primary settling tanks combined with additional aerobic biological treatment is capable of removing about 94% COD and 96% SS from the farm effluents. This system could be easily integrated and coordinated with existing facilities. A wastewater management scheme has been proposed to include waste minimisation, waste treatment and effluent reuse in irrigation.</jats:p
Evaluation of the three post-treatment systems at Doha seawater reverse osmosis plant — Kuwait
No full textImprovement of effluent quality for reuse in a dairy farm
No full textThis study examined the chemical treatment of wastewaters from a dairy farm in order to improve effluent quality and evaluated the reuse of treated effluent in irrigation. An extensive sampling and analysis program was conducted over a period of one year to determine wastewater characteristics at the plant. It has been found that the wastewater COD, BOD, solids, nitrogen and phosphorus content are relatively high but daily variations in pollution loads are not considerably high. Waste treatment in primary settling tanks was found to be insufficient since the effluent quality cannot satisfy the requirements set by the municipal. Experimental results on chemical treatment using alum as a coagulant indicated that the wastewater pollutants could be effectively reduced in order to obtain a good effluent for reuse in irrigation. A wastewater treatment system has been proposed based on the results of the industrial waste survey, evaluation of the existing treatment, and analysis of the jar tests on chemical treatment. The proposed system can be implemented to produce a good quality effluent for beneficial reuse in irrigation of farm land.</jats:p
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